Endre søk
Begrens søket
1 - 14 of 14
RefereraExporteraLink til resultatlisten
Permanent link
Referera
Referensformat
  • apa
  • harvard1
  • ieee
  • modern-language-association-8th-edition
  • vancouver
  • Annet format
Fler format
Språk
  • de-DE
  • en-GB
  • en-US
  • fi-FI
  • nn-NO
  • nn-NB
  • sv-SE
  • Annet språk
Fler språk
Utmatningsformat
  • html
  • text
  • asciidoc
  • rtf
Treff pr side
  • 5
  • 10
  • 20
  • 50
  • 100
  • 250
Sortering
  • Standard (Relevans)
  • Forfatter A-Ø
  • Forfatter Ø-A
  • Tittel A-Ø
  • Tittel Ø-A
  • Type publikasjon A-Ø
  • Type publikasjon Ø-A
  • Eldste først
  • Nyeste først
  • Skapad (Eldste først)
  • Skapad (Nyeste først)
  • Senast uppdaterad (Eldste først)
  • Senast uppdaterad (Nyeste først)
  • Disputationsdatum (tidligste først)
  • Disputationsdatum (siste først)
  • Standard (Relevans)
  • Forfatter A-Ø
  • Forfatter Ø-A
  • Tittel A-Ø
  • Tittel Ø-A
  • Type publikasjon A-Ø
  • Type publikasjon Ø-A
  • Eldste først
  • Nyeste først
  • Skapad (Eldste først)
  • Skapad (Nyeste først)
  • Senast uppdaterad (Eldste først)
  • Senast uppdaterad (Nyeste først)
  • Disputationsdatum (tidligste først)
  • Disputationsdatum (siste først)
Merk
Maxantalet träffar du kan exportera från sökgränssnittet är 250. Vid större uttag använd dig av utsökningar.
  • 1.
    Arzoo, Pakeeza Shaiq
    et al.
    Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University, Uppsala, Sweden.
    Klar, Joakim
    Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University, Uppsala, Sweden.
    Bergendal, Birgitta
    National Oral Disability Centre, The Institute for Postgraduate Dental Education, Jönköping, Sweden.
    Norderyd, Johanna
    Högskolan i Jönköping, Hälsohögskolan, HHJ. CHILD.
    Dahl, Niklas
    Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University, Uppsala, Sweden.
    WNT10A mutations account for ¼ of population-based isolated oligodontia and show phenotypic correlations2014Inngår i: American Journal of Medical Genetics. Part A, ISSN 1552-4825, E-ISSN 1552-4833, Vol. 164, nr 2, s. 353-359Artikkel i tidsskrift (Fagfellevurdert)
    Abstract [en]

    A large proportion (>50%) of patients with isolated oligodontia were recently reported with WNT10A mutations. We have analyzed a population-based cohort of 102 individuals diagnosed with non-syndromic oligodontia and a mean of 8.2 missing teeth. The cohort included 94 families and screening of WNT10A identified that 26 probands (27.7%) had at least one WNT10A variant. When we included the MSX1, PAX9, AXIN2, EDA, EDAR, and EDARADD genes, 38.3% of probands were positive for a mutation. Biallelic WNT10A mutations were strongly associated with a larger number of missing teeth (11.09) when compared to both monoallelic WNT10 mutations (6.82) and the group without mutations in WNT10A, MSX1, PAX9, AXIN2, EDA, EDAR, or EDARADD (7.77). Genotype–phenotype analysis of individuals with WNT10A mutations showed that premolars were the most common missing teeth. Furthermore, biallelic WNT10A mutations were associated with absence of maxillary and mandibular molars as well as mandibular central incisors. Maxillary central incisors were always present. Thus, our study indicates that WNT10A mutations are associated with both the type and numbers of missing teeth. Furthermore, we show that this population-based cohort of isolated oligodontia had a considerably lower frequency of mutated WNT10A alleles and a lower mean number of missing teeth when compared to patients recruited from dental specialist centers.

  • 2.
    Bergendal, Birgitta
    et al.
    Odontologiska Institutionen i Jönköping.
    Klar, Joakim
    Uppsala University.
    Stecksén-Blicks, Christina
    Umeå University.
    Norderyd, Johanna
    Odontologiska Institutionen i Jönköping.
    Dahl, Niklas
    Uppsala University.
    Isolated oligodontia associated with mutations in EDARADD, AXIN2, MSX1, and PAX9 genes2011Inngår i: American Journal of Medical Genetics. Part A, ISSN 1552-4825, E-ISSN 1552-4833, Vol. 155, nr 7, s. 1616-1622Artikkel i tidsskrift (Fagfellevurdert)
    Abstract [en]

    Oligodontia is defined as the congenital lack of six or more permanent teeth, excluding third molars. Oligodontia as well as hypodontia (lack of one or more permanent teeth) are highly heritable conditions associated with mutations in the AXIN2, MSX1, PAX9, EDA, and EDAR genes. Here we define the prevalence of mutations in the AXIN2, MSX1, PAX9, EDA, and EDAR genes, and the novel candidate gene EDARADD in a cohort of 93 Swedish probands with non-syndromic, isolated oligodontia. Mutation screening was performed using denaturing gradient gel electrophoresis and DNA sequence analysis. Analyses of the coding sequences of the six genes showed sequence alterations predicted to be damaging or potentially damaging in ten of 93 probands (10.8%). Mutations were identified in the EDARADD (n = 1), AXIN2 (n = 3), MSX1 (n = 2), and PAX9 (n = 4) genes, respectively. None of the 10 probands with mutations had other self-reported symptoms from ectodermal tissues. The oral parameters were similar when comparing individuals with and without mutations but a family history of oligodontia was three times more frequent for probands with mutations. EDARADD mutations have previously been reported in a few families segregating hypohidrotic ectodermal dysplasia and this is, to our knowledge, the first report of an EDARADD mutation associated with isolated oligodontia.

  • 3.
    Bergman, Annika
    et al.
    Department of Medical and Clinical genetics, Sahlgrenska Academy, Gothenburg, Sweden.
    Abel, Frida
    Department of Medical and Clinical genetics, Sahlgrenska Academy, Gothenburg, Sweden.
    Behboudi, Afrouz
    Department of Medical and Clinical genetics, Sahlgrenska Academy, Gothenburg, Sweden.
    Yhr, Maria
    Department of Medical and Clinical genetics, Sahlgrenska Academy, Gothenburg, Sweden.
    Mattsson, Jan
    Department of Medical and Clinical genetics, Sahlgrenska Academy, Gothenburg, Sweden.
    Svensson, Jan H.
    Department of Medical and Clinical genetics, Sahlgrenska Academy, Gothenburg, Sweden.
    Karlsson, Per
    Department of Medical and Clinical genetics, Sahlgrenska Academy, Gothenburg, Sweden.
    Nordling, Margareta
    Department of Medical and Clinical genetics, Sahlgrenska Academy, Gothenburg, Sweden.
    No germline mutations in supposed tumour suppressor genes SAFB1 and SAFB2 in familial breast cancer with linkage to 19p.2008Inngår i: BMC Medical Genetics, ISSN 1471-2350, E-ISSN 1471-2350, Vol. 9Artikkel i tidsskrift (Fagfellevurdert)
    Abstract [en]

    BACKGROUND: The scaffold attachment factor B1 and B2 genes, SAFB1/SAFB2 (both located on chromosome 19p13.3) have recently been suggested as tumour suppressor genes involved in breast cancer development. The assumption was based on functional properties of the two genes and loss of heterozygosity of intragenic markers in breast tumours further strengthened the postulated hypothesis. In addition, linkage studies in Swedish breast cancer families also indicate the presence of a susceptibility gene for breast cancer at the 19p locus. Somatic mutations in SAFB1/SAFB2 have been detected in breast tumours, but to our knowledge no studies on germline mutations have been reported. In this study we investigated the possible involvement of SAFB1/SAFB2 on familiar breast cancer by inherited mutations in either of the two genes.

    RESULTS: Mutation analysis in families showing linkage to the SAFB1/2 locus was performed by DNA sequencing. The complete coding sequence of the two genes SAFB1 and SAFB2 was analyzed in germline DNA from 31 affected women. No missense or frameshift mutations were detected. One polymorphism was found in SAFB1 and eight polymorphisms were detected in SAFB2. MLPA-anlysis showed that both alleles of the two genes were preserved which excludes gene inactivation by large deletions.

    CONCLUSION: SAFB1 and SAFB2 are not likely to be causative of the hereditary breast cancer syndrome in west Swedish breast cancer families.

  • 4.
    Bergman, Annika
    et al.
    Department of Clinical Genetics, Göteborg University, Sahlgrenska University Hospital, Göteborg, Sweden.
    Einbeigi, Zakaria
    Department of Oncology, Göteborg University, Sahlgrenska University Hospital, Göteborg, Sweden.
    Olofsson, Ulrica
    Department of Mathematical Statistics, Chalmers University of Technology, Göteborg University, Göteborg, Sweden.
    Taib, Ziad
    Department of Mathematical Statistics, Chalmers University of Technology, Göteborg University, Göteborg, Sweden.
    Wallgren, Arne
    Department of Oncology, Göteborg University, Sahlgrenska University Hospital, Göteborg, Sweden.
    Karlsson, Per
    Department of Oncology, Göteborg University, Sahlgrenska University Hospital, Göteborg, Sweden.
    Wahlström, Jan
    Department of Clinical Genetics, Göteborg University, Sahlgrenska University Hospital, Göteborg, Sweden.
    Martinsson, Tommy
    Department of Clinical Genetics, Göteborg University, Sahlgrenska University Hospital, Göteborg, Sweden.
    Nordling, Margareta
    Department of Clinical Genetics, Göteborg University, Sahlgrenska University Hospital, Göteborg, Sweden.
    The western Swedish BRCA1 founder mutation 3171ins5; a 3.7 cM conserved haplotype of today is a reminiscence of a 1500-year-old mutation2001Inngår i: European Journal of Human Genetics, ISSN 1018-4813, E-ISSN 1476-5438, Vol. 9, nr 10, s. 787-793Artikkel i tidsskrift (Fagfellevurdert)
    Abstract [en]

    The most recurrent BRCA1/BRCA2 mutation in Sweden is the BRCA1 mutation 3171ins5. In the western part of Sweden this mutation accounts for as much as 77% of identified mutations in these two genes. Our aim was to analyse in detail the haplotype and founder effects of the 3171ins5 and furthermore attempt to estimate the time of origin of the mutation. In the study we included eighteen apparently unrelated families with hereditary breast and/or ovarian cancer. At least one individual in each family had previously tested positive for the 3171ins5 mutation. Polymorphic microsatellite markers were used for the haplotype analyses. The markers were located within or flanking the BRCA1 gene spanning a region of 17.3 cΜ. We found several different haplotypes both for disease alleles and for the normal alleles. However, a conserved haplotype of 3.7 cΜ was observed in the 3171ins5 carriers spanning over four markers located within or very close to the BRCA1 gene. As this haplotype was not present in any of the normal controls it is highly likely that this is a mutation identical by descent, i.e. a true founder. The results from the haplotype analyses were used to estimate the age of the mutation. Estimations based on the Pexcess and linkage disequilibrium gives a first appearance of the mutation sometime around the 6th century, approximately 50 generations ago.

  • 5.
    Dimberg, Jan
    et al.
    Högskolan i Jönköping, Hälsohögskolan, HHJ, Avd. för naturvetenskap och biomedicin. Högskolan i Jönköping, Hälsohögskolan, HHJ. Biomedicinsk plattform.
    Hong, Thaitrinh
    Vietnam National University.
    Nguyen, Linh Tu Thi
    Vietnam National University.
    Skarstedt, Marita
    Ryhov County Hospital, Jönköping, Sweden.
    Löfgren, Sture
    Ryhov County Hospital, Jönköping, Sweden.
    Matussek, Andreas
    Ryhov County Hospital, Jönköping, Sweden.
    Common 4977 bp deletion and novel alterations in mitochondrial DNA in Vietnamese patients with breast cancer2015Inngår i: SpringerPlus, E-ISSN 2193-1801, Vol. 4, s. 1-7, artikkel-id 58Artikkel i tidsskrift (Fagfellevurdert)
    Abstract [en]

    Mitochondrial DNA (mtDNA) has been proposed to be involved in carcinogenesis and ageing. The mtDNA 4977 bp deletion is one of the most frequently observed mtDNA mutations in human tissues and may play a role in breast cancer (BC). The aim of this study was to investigate the frequency of mtDNA 4977 bp deletion in BC tissue and its association with clinical factors.

    We determined the presence of the 4977 bp common deletion in cancer and normal paired tissue samples from 106 Vietnamese patients with BC by sequencing PCR products.

    The mtDNA 4977 bp deletion was significantly more frequent in normal tissue in comparison with paired cancer tissue. Moreover, the incidence of the 4977 bp deletion in BC tissue was significantly higher in patients with estrogen receptor (ER) positive as compared with ER negative BC tissue. Preliminary results showed, in cancerous tissue, a significantly higher incidence of novel deletions in the group of patients with lymph node metastasis in comparison with the patients with no lymph node metastasis.

    We have found 4977 bp deletion in mtDNA to be a common event in BC and with special reference to ER positive BC. In addition, the novel deletions were shown to be related to lymph node metastasis. Our finding may provide complementary information in prediction of clinical outcome including metastasis, recurrence and survival of patients with BC.

  • 6.
    Jelenkovic, Aline
    et al.
    Univ Helsinki, Dept Social Res, FIN-00014 Helsinki, Finland.;Univ Basque Country UPV EHU, Dept Genet Phys Anthropol & Anim Physiol, Leioa, Spain..
    Yokoyama, Yoshie
    Osaka City Univ, Dept Publ Hlth Nursing, Osaka 558, Japan..
    Sund, Reijo
    Univ Helsinki, Dept Social Res, FIN-00014 Helsinki, Finland..
    Honda, Chika
    Osaka Univ, Osaka Univ Grad Sch Med, Osaka, Japan..
    Bogl, Leonie H.
    Univ Helsinki, Dept Publ Hlth, FIN-00014 Helsinki, Finland..
    Aaltonen, Sari
    Univ Helsinki, Dept Social Res, FIN-00014 Helsinki, Finland.;Univ Helsinki, Dept Publ Hlth, FIN-00014 Helsinki, Finland..
    Ji, Fuling
    Qingdao Ctr Dis Control & Prevent, Dept Noncommunicable Dis Prevent, Qingdao, Peoples R China..
    Ning, Feng
    Qingdao Ctr Dis Control & Prevent, Dept Noncommunicable Dis Prevent, Qingdao, Peoples R China..
    Pang, Zengchang
    Qingdao Ctr Dis Control & Prevent, Dept Noncommunicable Dis Prevent, Qingdao, Peoples R China..
    Ordonana, Juan R.
    Univ Murcia, Dept Human Anat & Psychobiol, Murcia, Spain.;IMIB Arrixaca, Murcia, Spain..
    Sanchez-Romera, Juan F.
    IMIB Arrixaca, Murcia, Spain.;Univ Murcia, Dept Dev & Educ Psychol, Murcia, Spain..
    Colodro-Conde, Lucia
    Univ Murcia, Dept Human Anat & Psychobiol, Murcia, Spain.;QIMR Berghofer Med Res Inst, Brisbane, Qld, Australia..
    Burt, S. Alexandra
    Michigan State Univ, E Lansing, MI 48824 USA..
    Klump, Kelly L.
    Michigan State Univ, E Lansing, MI 48824 USA..
    Medland, Sarah E.
    QIMR Berghofer Med Res Inst, Brisbane, Qld, Australia..
    Montgomery, Grant W.
    QIMR Berghofer Med Res Inst, Brisbane, Qld, Australia..
    Kandler, Christian
    Univ Bielefeld, Dept Psychol, D-33615 Bielefeld, Germany..
    McAdams, Tom A.
    Kings Coll London, Inst Psychiat Psychol & Neurosci, MRC Social Genet & Dev Psychiat Ctr, London WC2R 2LS, England..
    Eley, Thalia C.
    Kings Coll London, Inst Psychiat Psychol & Neurosci, MRC Social Genet & Dev Psychiat Ctr, London WC2R 2LS, England..
    Gregory, Alice M.
    Univ London, Dept Psychol, London, England..
    Saudino, Kimberly J.
    Boston Univ, Dept Psychol & Brain Sci, Boston, MA 02215 USA..
    Dubois, Lise
    Univ Ottawa, Sch Epidemiol Publ Hlth & Prevent Med, Ottawa, ON, Canada..
    Boivin, Michel
    Univ Laval, Ecole Psychol, Quebec City, PQ, Canada.;Tomsk State Univ, Inst of Genet Neurobiol & Social Fdn Child Dev, Tomsk 634050, Russia..
    Tarnoki, Adam D.
    Semmelweis Univ, Dept Radiol & Oncotherapy, H-1085 Budapest, Hungary..
    Tarnoki, David L.
    Semmelweis Univ, Dept Radiol & Oncotherapy, H-1085 Budapest, Hungary..
    Haworth, Claire M. A.
    Univ Bristol, MRC Integrat Epidemiol Unit, Bristol, Avon, England..
    Plomin, Robert
    Kings Coll London, Inst Psychiat Psychol & Neurosci, MRC Social Genet & Dev Psychiat Ctr, London WC2R 2LS, England..
    Oncel, Sevgi Y.
    Kirikkale Univ, Fac Arts & Sci, Dept Stat, Kirikkale, Turkey..
    Aliev, Fazil
    Virginia Commonwealth Univ, Virginia Inst Psychiat & Behav Genet, Dept Psychiat, Richmond, VA USA.;Virginia Commonwealth Univ, Virginia Inst Psychiat & Behav Genet, Dept Psychol, Richmond, VA USA.;Virginia Commonwealth Univ, Virginia Inst Psychiat & Behav Genet, Dept Human & Mol Genet, Richmond, VA USA.;Karabuk Univ, Dept Actuaria & Risk Management, Karabuk, Turkey..
    Stazi, Maria A.
    Natl Ctr Epidemiol Surveillance & Hlth Promot, Ist Super Sanita, Rome, Italy..
    Fagnani, Corrado
    Natl Ctr Epidemiol Surveillance & Hlth Promot, Ist Super Sanita, Rome, Italy..
    D'Ippolito, Cristina
    Natl Ctr Epidemiol Surveillance & Hlth Promot, Ist Super Sanita, Rome, Italy..
    Craig, Jeffrey M.
    Royal Childrens Hosp, Murdoch Childerens Res Inst, Melbourne, Vic, Australia.;Univ Melbourne, Dept Paediat, Melbourne, Vic, Australia..
    Saffery, Richard
    Royal Childrens Hosp, Murdoch Childerens Res Inst, Melbourne, Vic, Australia.;Univ Melbourne, Dept Paediat, Melbourne, Vic, Australia..
    Siribaddana, Sisira H.
    Inst Res & Dev, Battaramulla, Sri Lanka.;Rajarata Univ Sri Lanka, Fac Med & Allied Sci, Saliyapura, Sri Lanka..
    Hotopf, Matthew
    South London & Maudsley NHS Fdn Trust, NIHR Mental Hlth Biomed Res Ctr, London, England.;Kings Coll London, Inst Psychiat Psychol & Neurosci, London WC2R 2LS, England..
    Sumathipala, Athula
    Inst Res & Dev, Battaramulla, Sri Lanka.;Keele Univ, Fac Hlth, Sch Primary Care Res, Res Inst Primary Care & Hlth Sci, Keele, Staffs, England..
    Rijsdijk, Fruhling
    Kings Coll London, Inst Psychiat Psychol & Neurosci, MRC Social Genet & Dev Psychiat Ctr, London WC2R 2LS, England..
    Spector, Timothy
    Kings Coll London, Dept Twin Res & Genet Epidemiol, London WC2R 2LS, England..
    Mangino, Massimo
    Kings Coll London, Dept Twin Res & Genet Epidemiol, London WC2R 2LS, England..
    Lachance, Genevieve
    Kings Coll London, Dept Twin Res & Genet Epidemiol, London WC2R 2LS, England..
    Gatz, Margaret
    Univ So Calif, Dept Psychol, Los Angeles, CA 90089 USA.;Karolinska Inst, Dept Med Epidemiol & Biostat, Stockholm, Sweden..
    Butler, David A.
    Natl Acad Sci, Inst Med, Washington, DC 20418 USA..
    Bayasgalan, Gombojav
    Hlth Twin Assoc Mongolia, Ulaanbaatar, Mongol Peo Rep..
    Narandalai, Danshiitsoodol
    Hlth Twin Assoc Mongolia, Ulaanbaatar, Mongol Peo Rep.;Hiroshima Univ, Grad Sch Biomed & Hlth Sci, Hiroshima, Japan..
    Freitas, Duarte L.
    Univ Madeira, Dept Phys Educ & Sport, Funchal, Portugal..
    Maia, Jose Antonio
    Univ Porto, Fac Sport, CIFI2D, P-4100 Oporto, Portugal..
    Harden, K. Paige
    Univ Texas Austin, Dept Psychol, Austin, TX 78712 USA..
    Tucker-Drob, Elliot M.
    Univ Texas Austin, Dept Psychol, Austin, TX 78712 USA..
    Kim, Bia
    Pusan Natl Univ, Dept Psychol, Busan, South Korea..
    Chong, Youngsook
    Hong, Changhee
    Pusan Natl Univ, Dept Psychol, Busan, South Korea..
    Shin, Hyun Jung
    Pusan Natl Univ, Dept Psychol, Busan, South Korea..
    Christensen, Kaare
    Univ Southern Denmark, Inst Publ Hlth Epidemiol Biostat & Biodemog, Danish Twin Registry, Odense, Denmark.;Odense Univ Hosp, Dept Biochem & Clin Pharmacol, DK-5000 Odense, Denmark.;Odense Univ Hosp, Dept Clin Genet, DK-5000 Odense, Denmark..
    Skytthe, Axel
    Univ Southern Denmark, Inst Publ Hlth Epidemiol Biostat & Biodemog, Danish Twin Registry, Odense, Denmark..
    Kyvik, Kirsten O.
    Univ Southern Denmark, Dept Clin Res, Odense, Denmark.;Odense Univ Hosp, Odense Patient Data Explorat Network OPEN, DK-5000 Odense, Denmark..
    Derom, Catherine A.
    Univ Hosp Leuven, Ctr Human Genet, Leuven, Belgium..
    Vlietinck, Robert F.
    Univ Hosp Leuven, Ctr Human Genet, Leuven, Belgium..
    Loos, Ruth J. F.
    Icahn Sch Med Mt Sinai, Mindich Child Hlth & Dev Inst, Charles Bronfman Inst Personalized Med, New York, NY 10029 USA..
    Cozen, Wendy
    Univ So Calif, Keck Sch Med, Dept Prevent Med, Los Angeles, CA 90033 USA.;Univ So Calif, Kenneth Norris Jr Comprehens Canc Ctr, Los Angeles, CA 90033 USA..
    Hwang, Amie E.
    Univ So Calif, Keck Sch Med, Dept Prevent Med, Los Angeles, CA 90033 USA..
    Mack, Thomas M.
    Univ So Calif, Keck Sch Med, Dept Prevent Med, Los Angeles, CA 90033 USA.;Univ So Calif, Kenneth Norris Jr Comprehens Canc Ctr, Los Angeles, CA 90033 USA..
    He, Mingguang
    Sun Yat Sen Univ, State Key Lab Ophthalmol, Zhongshan Ophthalm Ctr, Guangzhou 510275, Guangdong, Peoples R China.;Univ Melbourne, Ctr Eye Res Australia, Melbourne, Vic, Australia..
    Ding, Xiaohu
    Sun Yat Sen Univ, State Key Lab Ophthalmol, Zhongshan Ophthalm Ctr, Guangzhou 510275, Guangdong, Peoples R China..
    Chang, Billy
    Sun Yat Sen Univ, State Key Lab Ophthalmol, Zhongshan Ophthalm Ctr, Guangzhou 510275, Guangdong, Peoples R China..
    Silberg, Judy L.
    Virginia Commonwealth Univ, Virginia Inst Psychiat & Behav Genet, Dept Human & Mol Genet, Richmond, VA USA..
    Eaves, Lindon J.
    Virginia Commonwealth Univ, Virginia Inst Psychiat & Behav Genet, Dept Human & Mol Genet, Richmond, VA USA..
    Maes, Hermine H.
    Virginia Commonwealth Univ, Psychiat & Massey Canc Ctr, Dept Human & Mol Genet, Richmond, VA USA..
    Cutler, Tessa L.
    Univ Melbourne, Ctr Biostat & Epidemiol, Australian Twin Registry, Melbourne, Vic, Australia..
    Hopper, John L.
    Univ Melbourne, Ctr Biostat & Epidemiol, Australian Twin Registry, Melbourne, Vic, Australia.;Seoul Natl Univ, Sch Publ Hlth, Dept Epidemiol, Seoul, South Korea..
    Aujard, Kelly
    Univ Melbourne, Ctr Biostat & Epidemiol, Melbourne, Vic, Australia..
    Magnusson, Patrik K. E.
    Karolinska Inst, Dept Med Epidemiol & Biostat, Stockholm, Sweden..
    Pedersen, Nancy L.
    Karolinska Inst, Dept Med Epidemiol & Biostat, Stockholm, Sweden..
    Aslan, Anna K. Dahl
    Högskolan i Jönköping, Hälsohögskolan, HHJ, Institutet för gerontologi. Högskolan i Jönköping, Hälsohögskolan, HHJ. Åldrande - livsvillkor och hälsa.
    Song, Yun-Mi
    Sungkyunkwan Univ, Sch Med, Samsung Med Ctr, Dept Family Med, Seoul, South Korea..
    Yang, Sarah
    Seoul Natl Univ, Sch Publ Hlth, Dept Epidemiol, Seoul, South Korea.;Seoul Natl Univ, Inst Hlth & Environm, Seoul, South Korea..
    Lee, Kayoung
    Inje Univ, Coll Med, Busan Paik Hosp, Dept Family Med, Busan, South Korea..
    Baker, Laura A.
    Univ So Calif, Dept Psychol, Los Angeles, CA 90089 USA..
    Tuvblad, Catherine
    Univ So Calif, Dept Psychol, Los Angeles, CA 90089 USA.;Univ Orebro, Sch Law Psychol & Social Work, SE-70182 Orebro, Sweden..
    Bjerregaard-Andersen, Morten
    INDEPTH Network, Bandim Hlth Project, Bissau, Guinea Bissau.;Statens Serum Inst, Res Ctr Vitamines & Vaccines, DK-2300 Copenhagen, Denmark.;Odense Univ Hosp, Dept Endocrinol, DK-5000 Odense, Denmark..
    Beck-Nielsen, Henning
    Odense Univ Hosp, Dept Endocrinol, DK-5000 Odense, Denmark..
    Sodemann, Morten
    Odense Univ Hosp, Dept Infect Dis, DK-5000 Odense, Denmark..
    Heikkila, Kauko
    Univ Helsinki, Dept Publ Hlth, FIN-00014 Helsinki, Finland..
    Tan, Qihua
    Univ Southern Denmark, Inst Publ Hlth, Epidemiol Biostat & Biodemog, Odense, Denmark..
    Zhang, Dongfeng
    Qingdao Univ, Coll Med, Dept Publ Hlth, Qingdao 266071, Peoples R China..
    Swan, Gary E.
    Stanford Univ, Dept Med, Sch Med, Stanford Prevent Res Ctr, Stanford, CA 94305 USA..
    Krasnow, Ruth
    SRI Int, Ctr Hlth Sci, Menlo Pk, CA 94025 USA..
    Jang, Kerry L.
    Univ British Columbia, Dept Psychiat, Vancouver, BC, Canada..
    Knafo-Noam, Ariel
    Hebrew Univ Jerusalem, Jerusalem, Israel..
    Mankuta, David
    Hebrew Univ Jerusalem, Sch Med, Hadassah Hosp, Dept Obstet & Gynecol, IL-91010 Jerusalem, Israel..
    Abramson, Lior
    Hebrew Univ Jerusalem, Jerusalem, Israel..
    Lichtenstein, Paul
    Karolinska Inst, Dept Med Epidemiol & Biostat, Stockholm, Sweden..
    Krueger, Robert F.
    Univ Minnesota, Dept Psychol, Minneapolis, MN 55455 USA..
    McGue, Matt
    Univ Minnesota, Dept Psychol, Minneapolis, MN 55455 USA..
    Pahlen, Shandell
    Univ Minnesota, Dept Psychol, Minneapolis, MN 55455 USA..
    Tynelius, Per
    Karolinska Inst, Dept Publ Hlth Sci, Stockholm, Sweden..
    Duncan, Glen E.
    Univ Washington, Ctr Clin & Epidemiol Res, Seattle, WA 98195 USA..
    Buchwald, Dedra
    Univ Washington, Ctr Clin & Epidemiol Res, Seattle, WA 98195 USA..
    Corley, Robin P.
    Univ Colorado, Inst Behav Genet, Boulder, CO 80309 USA..
    Huibregtse, Brooke M.
    Univ Colorado, Inst Behav Genet, Boulder, CO 80309 USA..
    Nelson, Tracy L.
    Colorado State Univ, Dept Hlth & Exercise Sci, Ft Collins, CO 80523 USA.;Colorado State Univ, Colorado Sch Publ Hlth, Ft Collins, CO 80523 USA..
    Whitfield, Keith E.
    Duke Univ, Psychol & Neurosci, Durham, NC USA..
    Franz, Carol E.
    Univ Calif San Diego, Dept Psychiat, San Diego, CA 92103 USA..
    Kremen, William S.
    Univ Calif San Diego, Dept Psychiat, San Diego, CA 92103 USA.;VA San Diego Ctr Excellence Stress & Mental Hlth, La Jolla, CA USA..
    Lyons, Michael J.
    Boston Univ, Dept Psychol, Boston, MA 02215 USA..
    Ooki, Syuichi
    Ishikawa Prefectural Nursing Univ, Dept Hlth Sci, Kahoku, Ishikawa, Japan..
    Brandt, Ingunn
    Norwegian Inst Publ Hlth, Div Epidemiol, Dept Genes & Environm, Oslo, Norway..
    Nilsen, Thomas Sevenius
    Norwegian Inst Publ Hlth, Div Epidemiol, Dept Genes & Environm, Oslo, Norway..
    Inui, Fujio
    Osaka Univ, Osaka Univ Grad Sch Med, Osaka, Japan.;Kio Univ, Fac Hlth Sci, Nara, Japan..
    Watanabe, Mikio
    Osaka Univ, Osaka Univ Grad Sch Med, Osaka, Japan..
    Bartels, Meike
    Vrije Univ Amsterdam, Dept Biol Psychol, Amsterdam, Netherlands..
    van Beijsterveldt, Toos C. E. M.
    Vrije Univ Amsterdam, Dept Biol Psychol, Amsterdam, Netherlands..
    Wardle, Jane
    UCL, Inst Epidemiol & Hlth Care, Hlth Behav Res Ctr, Dept Epidemiol & Publ Hlth, London, England..
    Llewellyn, Clare H.
    UCL, Inst Epidemiol & Hlth Care, Hlth Behav Res Ctr, Dept Epidemiol & Publ Hlth, London, England..
    Fisher, Abigail
    UCL, Inst Epidemiol & Hlth Care, Hlth Behav Res Ctr, Dept Epidemiol & Publ Hlth, London, England..
    Rebato, Esther
    Univ Basque Country UPV EHU, Dept Genet Phys Anthropol & Anim Physiol, Leioa, Spain..
    Martin, Nicholas G.
    QIMR Berghofer Med Res Inst, Brisbane, Qld, Australia..
    Iwatani, Yoshinori
    Osaka Univ, Osaka Univ Grad Sch Med, Osaka, Japan..
    Hayakawa, Kazuo
    Osaka Univ, Osaka Univ Grad Sch Med, Osaka, Japan..
    Sung, Joohon
    Seoul Natl Univ, Sch Publ Hlth, Dept Epidemiol, Seoul, South Korea.;Seoul Natl Univ, Inst Hlth & Environm, Seoul, South Korea..
    Harris, Jennifer R.
    Norwegian Inst Publ Hlth, Div Epidemiol, Dept Genes & Environm, Oslo, Norway..
    Willemsen, Gonneke
    Vrije Univ Amsterdam, Dept Biol Psychol, Amsterdam, Netherlands..
    Busjahn, Andreas
    HealthTwist GmbH, Berlin, Germany..
    Goldberg, Jack H.
    Univ Washington, Sch Publ Hlth, Dept Epidemiol, Seattle, WA 98195 USA..
    Rasmussen, Finn
    Karolinska Inst, Dept Publ Hlth Sci, Stockholm, Sweden..
    Hur, Yoon-Mi
    Mokpo Natl Univ, Dept Educ, Jeonnam, South Korea..
    Boomsma, Dorret I.
    Vrije Univ Amsterdam, Dept Biol Psychol, Amsterdam, Netherlands..
    Sorensen, Thorkild I. A.
    Univ Bristol, MRC Integrat Epidemiol Unit, Bristol, Avon, England.;Univ Copenhagen, Fac Med & Hlth Sci, Novo Nordisk Fdn, Ctr Basic Metab Res,Sect Metab Genet, Copenhagen, Denmark.;Bispebjerg and Frederiksberg Hosp, Inst Prevent Med, Copenhagen, Denmark..
    Kaprio, Jaakko
    Univ Helsinki, Dept Publ Hlth, FIN-00014 Helsinki, Finland.;Natl Inst Hlth & Welfare, Helsinki, Finland.;FIMM, Inst Mol Med, Helsinki, Finland..
    Silventoinen, Karri
    Univ Helsinki, Dept Social Res, FIN-00014 Helsinki, Finland.;Osaka Univ, Osaka Univ Grad Sch Med, Osaka, Japan..
    Zygosity Differences in Height and Body Mass Index of Twins From Infancy to Old Age: A Study of the CODATwins Project2015Inngår i: Twin Research and Human Genetics, ISSN 1832-4274, E-ISSN 1839-2628, Vol. 18, nr 5, s. 557-570Artikkel i tidsskrift (Fagfellevurdert)
    Abstract [en]

    A trend toward greater body size in dizygotic (DZ) than in monozygotic (MZ) twins has been suggested by some but not all studies, and this difference may also vary by age. We analyzed zygosity differences in mean values and variances of height and body mass index (BMI) among male and female twins from infancy to old age. Data were derived from an international database of 54 twin cohorts participating in the COllaborative project of Development of Anthropometrical measures in Twins (CODATwins), and included 842,951 height and BMI measurements from twins aged 1 to 102 years. The results showed that DZ twins were consistently taller than MZ twins, with differences of up to 2.0 cm in childhood and adolescence and up to 0.9 cm in adulthood. Similarly, a greater mean BMI of up to 0.3 kg/m(2) in childhood and adolescence and up to 0.2 kg/m(2) in adulthood was observed in DZ twins, although the pattern was less consistent. DZ twins presented up to 1.7% greater height and 1.9% greater BMI than MZ twins; these percentage differences were largest in middle and late childhood and decreased with age in both sexes. The variance of height was similar in MZ and DZ twins at most ages. In contrast, the variance of BMI was significantly higher in DZ than in MZ twins, particularly in childhood. In conclusion, DZ twins were generally taller and had greater BMI than MZ twins, but the differences decreased with age in both sexes.

  • 7.
    Kanter-Smoler, Gunilla
    et al.
    Department of Molecular and Clinical Genetics, Institute of Biomedicine, University of Gothenburg, Gothenburg, Sweden.
    Fritzell, Kaisa
    The Swedish Polyposis Registry, Department of Medicine, Karolinska Institute, Stockholm, Sweden.
    Rohlin, Anna
    Department of Molecular and Clinical Genetics, Institute of Biomedicine, University of Gothenburg, Gothenburg, Sweden.
    Engwall, Yvonne
    Department of Molecular and Clinical Genetics, Institute of Biomedicine, University of Gothenburg, Gothenburg, Sweden.
    Hallberg, Birgitta
    Department of Molecular and Clinical Genetics, Institute of Biomedicine, University of Gothenburg, Gothenburg, Sweden.
    Bergman, Annika
    Department of Molecular and Clinical Genetics, Institute of Biomedicine, University of Gothenburg, Gothenburg, Sweden.
    Meuller, Johan
    Department of Molecular and Clinical Genetics, Institute of Biomedicine, University of Gothenburg, Gothenburg, Sweden.
    Grönberg, Henrik
    Department of Medical Epidemiology, Biostatistics Karolinska Institutet, Stockholm, Sweden.
    Karlsson, Per
    Department of Oncology, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden.
    Björk, Jan
    The Swedish Polyposis Registry, Department of Medicine, Karolinska Institute, Stockholm, Sweden.
    Nordling, Margareta
    AstraZeneca RandD Mölndal, Structural Chemistry Laboratory, SC425, Mölndal, Sweden.
    Clinical characterization and the mutation spectrum in Swedish adenomatous polyposis families2008Inngår i: BMC Medicine, ISSN 1741-7015, E-ISSN 1741-7015, Vol. 6, artikkel-id 6Artikkel i tidsskrift (Fagfellevurdert)
    Abstract [en]

    Background: The dominantly inherited condition familial adenomatous polyposis (FAP) is caused by germline mutations in the APC gene. Finding the causative mutations has great implications for the families. Correlating the genotypes to the phenotypes could help to improve the diagnosis and follow-up of patients.

    Methods: Mutation screening of APCand the clinical characterization of 96 unrelated FAP patients from the Swedish Polyposis Registry was performed. In addition to generally used mutation screening methods, analyses of splicing-affecting mutations and investigations of the presence of low-frequency mutation alleles, indicating mosaics, have been performed, as well as quantitative real-time polymerase chain reaction to detect lowered expression of APC.

    Results: Sixty-one different APC mutations in 81 of the 96 families were identified and 27 of those are novel. We have previously shown that 6 of the 96 patients carried biallelic MUTYH mutations. The 9 mutation-negative cases all display an attenuated or atypical phenotype. Probands with a genotype (codon 1250-1464) predicting a severe phenotype had a median age at diagnosis of 21.8 (range, 11-49) years compared with 34.4 (range, 14-57) years among those with mutations outside this region (P < 0.017). Dense polyposis (> 1000) occurred in 75% of the probands with a severe phenotype compared with 30% in those with mutations outside this region. The morbidity in colorectal cancer among probands was 25% at a mean age of 37.5 years and 29% at a mean age of 46.6 years.

    Conclusion: Using a variety of mutation-detection techniques, we have achieved a 100% detection frequency in classical FAP. Probands with APC mutations outside codon 1250-1464, although exhibiting a less-severe phenotype, are at high risk of having a colorectal cancer at diagnosis indicating that age at diagnosis is as important as the severity of the disease for colorectal cancer morbidity. © 2008 Kanter-Smoler et al; licensee BioMed Central Ltd.

  • 8.
    Karlsson, Ida K.
    et al.
    Karolinska Institutet, Stockholm, Sweden.
    Ploner, Alexander
    Karolinska Institutet, Stockholm, Sweden.
    Wang, Yunzhang
    Karolinska Institutet, Stockholm, Sweden.
    Pedersen, Nancy L.
    Karolinska Institutet, Stockholm, Sweden.
    Hagg, Sara
    Karolinska Institutet, Stockholm, Sweden.
    DNA methylation in Alzheimer's disease associated genes2017Inngår i: Behavior Genetics, ISSN 0001-8244, E-ISSN 1573-3297, Vol. 47, nr 6, s. 709-709Artikkel i tidsskrift (Fagfellevurdert)
  • 9.
    Konki, Mikko
    et al.
    Turku Bioscience Centre, University of Turku, Åbo Akademi University, Turku, Finland.
    Malonzo, Maia
    Department of Computer Science, Aalto University School of Science, Helsinki, Finland.
    Karlsson, Ida K.
    Högskolan i Jönköping, Hälsohögskolan, HHJ, Institutet för gerontologi. Högskolan i Jönköping, Hälsohögskolan, HHJ. ARN-J (Aging Research Network - Jönköping). Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
    Lindgren, Noora
    Drug Research Doctoral Program, University of Turku, Turku, Finland.
    Ghimire, Bishwa
    Turku Bioscience Centre, University of Turku, Åbo Akademi University, Turku, Finland.
    Smolander, Johannes
    Turku Bioscience Centre, University of Turku, Åbo Akademi University, Turku, Finland.
    Scheinin, Noora M.
    Turku PET Centre, University of Turku, Turku, Finland.
    Ollikainen, Miina
    Institute for Molecular Medicine Finland, University of Helsinki, Helsinki, Finland.
    Laiho, Asta
    Turku Bioscience Centre, University of Turku, Åbo Akademi University, Turku, Finland.
    Elo, Laura L.
    Turku Bioscience Centre, University of Turku, Åbo Akademi University, Turku, Finland.
    Lönnberg, Tapio
    Turku Bioscience Centre, University of Turku, Åbo Akademi University, Turku, Finland.
    Röyttä, Matias
    Department of Pathology/Neuropathology, Turku University Hospital, University of Turku, Turku, Finland.
    Pedersen, Nancy L.
    Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
    Kaprio, Jaakko
    Institute for Molecular Medicine Finland, University of Helsinki, Helsinki, Finland.
    Lähdesmäki, Harri
    Department of Computer Science, Aalto University School of Science, Helsinki, Finland.
    Rinne, Juha O.
    Division of Clinical Neurosciences, Turku University Hospital, Turku, 4, Finland.
    Lund, Riikka J.
    Turku Bioscience Centre, University of Turku, Åbo Akademi University, Turku, Finland.
    Peripheral blood DNA methylation differences in twin pairs discordant for Alzheimer's disease.2019Inngår i: Clinical Epigenetics, E-ISSN 1868-7083, Vol. 11, nr 1, artikkel-id 130Artikkel i tidsskrift (Fagfellevurdert)
    Abstract [en]

    BACKGROUND: Alzheimer's disease results from a neurodegenerative process that starts well before the diagnosis can be made. New prognostic or diagnostic markers enabling early intervention into the disease process would be highly valuable. Environmental and lifestyle factors largely modulate the disease risk and may influence the pathogenesis through epigenetic mechanisms, such as DNA methylation. As environmental and lifestyle factors may affect multiple tissues of the body, we hypothesized that the disease-associated DNA methylation signatures are detectable in the peripheral blood of discordant twin pairs.

    RESULTS: Comparison of 23 disease discordant Finnish twin pairs with reduced representation bisulfite sequencing revealed peripheral blood DNA methylation differences in 11 genomic regions with at least 15.0% median methylation difference and FDR adjusted p value ≤ 0.05. Several of the affected genes are primarily associated with neuronal functions and pathologies and do not display disease-associated differences in gene expression in blood. The DNA methylation mark in ADARB2 gene was found to be differentially methylated also in the anterior hippocampus, including entorhinal cortex, of non-twin cases and controls. Targeted bisulfite pyrosequencing of the DNA methylation mark in ADARB2 gene in 62 Finnish and Swedish twin pairs revealed that, in addition to the disease status, DNA methylation of this region is influenced by gender, age, zygosity, APOE genotype, and smoking. Further analysis of 120 Swedish twin pairs indicated that this specific DNA methylation mark is not predictive for Alzheimer's disease and becomes differentially methylated after disease onset.

    CONCLUSIONS: DNA methylation differences can be detected in the peripheral blood of twin pairs discordant for Alzheimer's disease. These DNA methylation signatures may have value as disease markers and provide insights into the molecular mechanisms of pathogenesis. We found no evidence that the DNA methylation marks would be associated with gene expression in blood. Further studies are needed to elucidate the potential importance of the associated genes in neuronal functions and to validate the prognostic or diagnostic value of the individual marks or marker panels.

  • 10.
    Lehto, Kelli
    et al.
    Karolinska Institutet, Stockholm, Sweden.
    Karlsson, Ida K.
    Karolinska Institutet, Stockholm, Sweden.
    Lundholm, Cecilia
    Karolinska Institutet, Stockholm, Sweden.
    Pedersen, Nancy L.
    Karolinska Institutet, Stockholm, Sweden.
    Early life stress and genetic risk for neuroticism predicting health outcomes in older Swedish twins2017Inngår i: Behavior Genetics, ISSN 0001-8244, E-ISSN 1573-3297, Vol. 47, nr 6, s. 669-669Artikkel i tidsskrift (Fagfellevurdert)
  • 11.
    Pedersen, Nancy L.
    et al.
    Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
    Gatz, Margaret
    Center for Economic and Social Research, University of Southern California, Los Angeles, CA, United States.
    Finch, Brian K
    Center for Economic and Social Research, University of Southern California, Los Angeles, CA, United States.
    Finkel, Deborah
    Department of Psychology, Indiana University Southeast, New Albany, IN, United States.
    Butler, David A.
    Office of Military and Veterans Health, Health and Medicine Division, National Academies of Sciences, Engineering, and Medicine, Washington, DC, United States.
    Dahl Aslan, Anna K.
    Högskolan i Jönköping, Hälsohögskolan, HHJ, Institutet för gerontologi. Högskolan i Jönköping, Hälsohögskolan, HHJ. ARN-J (Aging Research Network - Jönköping).
    Franz, Carol E.
    Department of Psychiatry, University of California San Diego, San diego, CA, United States.
    Kaprio, Jaakko
    Department of Public Health,Faculty of Medicine, Institute for Molecular Medicine FIMM, HiLIFE, University of Helsinki, Helsinki, Finland.
    Lapham, Susan
    Research and Evaluation, American Institutes for Research, Washington, DC, United States.
    McGue, Matt
    Department of Psychology, University of Minnesota, Minneapolis, MN, United States.
    Mosing, Miriam A.
    Department of Neuroscience, Karolinska Institutet, Stockholm, Sweden.
    Neiderhiser, Jenae
    Department of Psychology, Penn State University, University Park, PA, United States.
    Nygaard, Marianne
    Danish Twin Registry, University of Southern Denmark, Odense C, Denmark.
    Panizzon, Matthew
    Department of Psychiatry, University of California San Diego, San diego, CA, United States.
    Prescott, Carol A.
    Department of Psychology, University of Southern California, Los Angeles, CA, United States.
    Reynolds, Chandra A.
    Department of Psychology, University of California-Riverside, Riverside, CA, United States.
    Sachdev, Perminder
    Centre for Healthy Brain Ageing (CHeBA), University of New South Wales, Sydney, NSW, Australia.
    Whitfield, Keith E.
    Department of Psychology, Wayne State University, Detroit, MI, United States.
    IGEMS: The Consortium on Interplay of Genes and Environment Across Multiple Studies - An Update2019Inngår i: Twin Research and Human Genetics, ISSN 1832-4274, E-ISSN 1839-2628, s. 1-8Artikkel i tidsskrift (Fagfellevurdert)
    Abstract [en]

    The Interplay of Genes and Environment across Multiple Studies (IGEMS) is a consortium of 18 twin studies from 5 different countries (Sweden, Denmark, Finland, United States, and Australia) established to explore the nature of gene-environment (GE) interplay in functioning across the adult lifespan. Fifteen of the studies are longitudinal, with follow-up as long as 59 years after baseline. The combined data from over 76,000 participants aged 14-103 at intake (including over 10,000 monozygotic and over 17,000 dizygotic twin pairs) support two primary research emphases: (1) investigation of models of GE interplay of early life adversity, and social factors at micro and macro environmental levels and with diverse outcomes, including mortality, physical functioning and psychological functioning; and (2) improved understanding of risk and protective factors for dementia by incorporating unmeasured and measured genetic factors with a wide range of exposures measured in young adulthood, midlife and later life.

  • 12.
    Pettersson, Maria
    et al.
    Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
    Bergendal, Birgitta
    Högskolan i Jönköping, Hälsohögskolan. National Oral Disability Centre for Rare Disorders, The Institute for Postgraduate Dental Education, Jönköping, Sweden.
    Norderyd, Johanna
    Högskolan i Jönköping, Hälsohögskolan, HHJ. CHILD. National Oral Disability Centre for Rare Disorders, The Institute for Postgraduate Dental Education, Jönköping, Sweden.
    Nilsson, Daniel
    Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
    Anderlid, Britt-Marie
    Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
    Nordgren, Ann
    Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
    Lindstrand, Anna
    Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
    Further evidence for specific IFIH1 mutation as a cause of Singleton-Merten syndrome with phenotypic heterogeneity2017Inngår i: American Journal of Medical Genetics. Part A, ISSN 1552-4825, E-ISSN 1552-4833, Vol. 173, nr 5, s. 1396-1399Artikkel i tidsskrift (Fagfellevurdert)
    Abstract [en]

    Singleton-Merten syndrome (MIM 182250) is an autosomal dominant inherited disorder characterized by early onset periodontitis, root resorption, osteopenia, osteoporosis, and aortic valve or thoracic aorta calcification. The disorder can have significant intrafamilial phenotypic variability. Here, we present a mother and daughter with Singleton-Merten syndrome harboring a previously described pathogenic missense mutation, c.2465G>A p.(Arg822Gln), in IFIH1 (interferon induced with helicase C domain 1), encoding MDA5 (Melanoma Differentiation-Associated protein 5). These data confirm the pathogenicity of IFIH1 c.2465G>A p.(Arg822Gln) for Singleton-Merten syndrome and affirm the striking phenotypic heterogeneity of this disorder. In addition, we expand the Singleton-Merten phenotype by adding severe systemic lupus erythematosus (SLE) to the clinical picture. Investigations of known SLE genes as well as a single nucleotide polymorphism suggested to be involved in development of SLE were normal. 

  • 13.
    Thorell, Kaisa
    et al.
    Department of Clinical Genetics, Gothenburg University, Gothenburg, Sweden.
    Bergman, Annika
    Department of Pathology, Lundberg Laboratory for Cancer Research, SU/Sahlgrenska, Gothenburg, Sweden.
    Carén, Helena
    Department of Clinical Genetics, Gothenburg University, Gothenburg, Sweden.
    Nilsson, Staffan
    Department of Mathematical Statistics, Chalmers University of Technology, Gothenburg, Sweden.
    Kogner, Per
    Childhood Cancer Research Unit, Karolinska Institute, Astrid Lindgren Childrens Hospital, Stockholm, Sweden.
    Martinsson, Tommy
    Department of Clinical Genetics, Gothenburg University, Gothenburg, Sweden.
    Abel, Frida
    Department of Clinical Genetics, Gothenburg University, Gothenburg, Sweden.
    Verification of genes differentially expressed in neuroblastoma tumours: A study of potential tumour suppressor genes2009Inngår i: BMC Medical Genomics, ISSN 1755-8794, E-ISSN 1755-8794, Vol. 2, artikkel-id 53Artikkel i tidsskrift (Fagfellevurdert)
    Abstract [en]

    Background: One of the most striking features of the childhood malignancy neuroblastoma (NB) is its clinical heterogeneity. Although there is a great need for better clinical and biological markers to distinguish between tumours with different severity and to improve treatment, no clear-cut prognostic factors have been found. Also, no major NB tumour suppressor genes have been identified.

    Methods: In this study we performed expression analysis by quantitative real-time PCR (QPCR) on primary NB tumours divided into two groups, of favourable and unfavourable outcome respectively. Candidate genes were selected on basis of lower expression in unfavourable tumour types compared to favourables in our microarray expression analysis. Selected genes were studied in two steps: (1) using TaqMan Low Density Arrays (TLDA) targeting 89 genes on a set of 12 NB tumour samples, and (2) 12 genes were selected from the TLDA analysis for verification using individual TaqMan assays in a new set of 13 NB tumour samples.

    Results: By TLDA analysis, 81 out of 87 genes were found to be significantly differentially expressed between groups, of which 14 have previously been reported as having an altered gene expression in NB. In the second verification round, seven out of 12 transcripts showed significantly lower expression in unfavourable NB tumours, ATBF1, CACNA2D3, CNTNAP2, FUSIP1, GNB1, SLC35E2, and TFAP2B. The gene that showed the highest fold change in the TLDA analysis, POU4F2, was investigated for epigenetic changes (CpG methylation) and mutations in order to explore the cause of the differential expression. Moreover, the fragile site gene CNTNAP2 that showed the largest fold change in verification group 2 was investigated for structural aberrations by copy number analysis. However, the analyses of POU4F2 and CNTNAP2 showed no genetic alterations that could explain a lower expression in unfavourable NB tumours.

    Conclusion: Through two steps of verification, seven transcripts were found to significantly discriminate between favourable and unfavourable NB tumours. Four of the transcripts, CACNA2D3, GNB1, SLC35E2, and TFAP2B, have been observed in previous microarray studies, and are in this study independently verified. Our results suggest these transcripts to be markers of malignancy, which could have a potential usefulness in the clinic. 

  • 14.
    Vujic, Mihailo
    et al.
    Department of Clinical Genetics, Sahlgrenska University Hospital/East, Göteborg, Sweden.
    Bergman, Annika
    Department of Clinical Genetics, Sahlgrenska University Hospital/East, Göteborg, Sweden.
    Romanus, Bertil
    Department of Clinical Genetics, Sahlgrenska University Hospital/East, Göteborg, Sweden.
    Wahlström, Jan
    Department of Clinical Genetics, Sahlgrenska University Hospital/East, Göteborg, Sweden.
    Martinsson, Tommy
    Department of Clinical Genetics, Sahlgrenska University Hospital/East, Göteborg, Sweden.
    Hereditary multiple and isolated sporadic exostoses in the same kindred: identification of the causative gene (EXT2) and detection of a new mutation, nt112delAT, that distinguishes the two phenotypes.2004Inngår i: International Journal of Molecular Medicine, ISSN 1107-3756, E-ISSN 1791-244X, Vol. 13, nr 1, s. 47-52Artikkel i tidsskrift (Fagfellevurdert)
    Abstract [en]

    Hereditary multiple exostoses (HME) is a well known autosomal dominant hereditary orthopedic disorder. Isolated exostoses, on the other hand, occur as sporadic events or as secondary post-traumatic sequel. The occurrence of solitary exostoses in individuals from pedigrees affected with HME may distort conclusions about carrier status and/or diagnosis. Both conditions are potentially malignant and both are associated with genetic alterations in either EXT1 or EXT2 genes. In this study, we present a seven-generation family from western Sweden consisting of 170 blood relatives, 38 of whom had multiple cartilaginous exostoses, while 8 had isolated exostoses. Linkage analysis aimed to discern one of the known EXT genes demonstrated linkage of the HME phenotype to the EXT2 gene. Subsequent mutation analysis revealed a novel mutation, nt112delAT, in this gene. All carriers of the detected mutation had multiple exostoses, indicating full penetrance. None of the pedigree members with isolated exostoses were carriers of the detected mutation. Two of the mutation carriers developed chondrosarcoma yielding a 5.2% risk of malignant development for this mutation. The detection of this mutation has enabled us to provide appropriate genetic counseling concerning this complex situation.

1 - 14 of 14
RefereraExporteraLink til resultatlisten
Permanent link
Referera
Referensformat
  • apa
  • harvard1
  • ieee
  • modern-language-association-8th-edition
  • vancouver
  • Annet format
Fler format
Språk
  • de-DE
  • en-GB
  • en-US
  • fi-FI
  • nn-NO
  • nn-NB
  • sv-SE
  • Annet språk
Fler språk
Utmatningsformat
  • html
  • text
  • asciidoc
  • rtf