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Article: Differentiating campomelic dysplasia from Cumming syndrome.

Watiker, Valerie / Lachman, Ralph S / Wilcox, William R / Barroso, Inês / Schafer, Alan J / Scherer, Gerd

American journal of medical genetics. Part A

2005 Volume 135, Issue 1, Page(s) 110–112

MeSH term(s)	Abnormalities, Multiple/genetics ; Abnormalities, Multiple/pathology ; Bone and Bones/abnormalities ; DNA/chemistry ; DNA/genetics ; DNA Mutational Analysis ; Diagnosis, Differential ; Face/abnormalities ; Fatal Outcome ; Female ; Fetal Death ; High Mobility Group Proteins/genetics ; Humans ; Male ; Micrognathism/pathology ; Mutation ; Osteochondrodysplasias/genetics ; Osteochondrodysplasias/pathology ; Polymorphism, Single-Stranded Conformational ; Pregnancy ; SOX9 Transcription Factor ; Syndrome ; Transcription Factors/genetics
Chemical Substances	High Mobility Group Proteins ; SOX9 Transcription Factor ; SOX9 protein, human ; Transcription Factors ; DNA (9007-49-2)
Language	English
Publishing date	2005-02-08
Publishing country	United States
Document type	Case Reports ; Letter ; Research Support, Non-U.S. Gov't ; Research Support, U.S. Gov't, P.H.S.
ZDB-ID	2108614-X
ISSN	1552-4825
ISSN	1552-4825
DOI	10.1002/ajmg.a.30650
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Zs.A 1376/A: Show issues

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Article: Association study of candidate genes for the prevalence and progression of knee osteoarthritis.

Valdes, Ana M / Hart, Deborah J / Jones, Karen A / Surdulescu, Gabriela / Swarbrick, Peter / Doyle, David V / Schafer, Alan J / Spector, Tim D

Arthritis and rheumatism

2004 Volume 50, Issue 8, Page(s) 2497–2507

Abstract: Objective: Osteoarthritis (OA), characterized by late-onset degeneration of articular cartilage, is recognized to have a genetic component. We examined the role of 26 single-nucleotide polymorphisms (SNPs) from 24 candidate genes in OA susceptibility ... ...

Abstract	Objective: Osteoarthritis (OA), characterized by late-onset degeneration of articular cartilage, is recognized to have a genetic component. We examined the role of 26 single-nucleotide polymorphisms (SNPs) from 24 candidate genes in OA susceptibility and progression. Methods: We compared human complementary DNA libraries from OA-affected and normal cartilage and synovium and selected 22 genes in addition to the estrogen receptor alpha and vitamin D receptor genes. Based on the availability of polymorphisms, we proceeded to test whether genetic variation at those genes affected susceptibility to or progression of radiographic knee OA over a 10-year period in 749 women (mean age 64 years) from the longitudinal Chingford Study. Results: After adjusting for age and body mass index, we observed significant associations at ADAM12, BMP2, CD36, COX2, and NCOR2 with 3 OA susceptibility traits (presence/absence of joint space narrowing [JSN], presence/absence of osteophytes, and Kellgren/Lawrence [K/L] score). For the OA progression traits (change over 10 years in the K/L score, osteophyte grade, and JSN grade), we found significant associations with ADAM12, CILP, OPG, and TNA. Overall, we observed 15 associations with nominal significance (P < 0.05) and, by permutation analysis, found that such a number would be observed by chance only 3.8% of the time. Although these tests require replication, the stronger genetic associations observed are unlikely to be attributable simply to multiple comparisons. Conclusion: Our results suggest that OA severity and progression have a multigenic and feature-specific nature. These findings should encourage the development of genetic diagnostics for OA progression based on multiple SNPs and help unravel some of the complex disease mechanisms in OA.
MeSH term(s)	Adult ; Aged ; Disease Progression ; Disease Susceptibility ; Female ; Gene Library ; Genetic Predisposition to Disease/genetics ; Genotype ; Humans ; Middle Aged ; Osteoarthritis, Knee/epidemiology ; Osteoarthritis, Knee/genetics ; Osteoarthritis, Knee/physiopathology ; Polymorphism, Single Nucleotide ; Prevalence
Language	English
Publishing date	2004-08-25
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	127294-9
ISSN	1529-0131 ; 0004-3591 ; 2326-5191
ISSN (online)	1529-0131
ISSN	0004-3591 ; 2326-5191
DOI	10.1002/art.20443
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Zs.A 24: Show issues			Location: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular Jg. 1995 - 2021: Lesesall (1.OG) ab Jg. 2022: Lesesaal (EG)
Zs.MO 523: Show issues

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Article: Variation in the eNOS gene modifies the association between total energy expenditure and glucose intolerance.

Franks, Paul W / Luan, Jian'an / Barroso, Inês / Brage, Søren / Gonzalez Sanchez, Jose Luis / Ekelund, Ulf / Ríos, Manuel Serrano / Schafer, Alan J / O'Rahilly, Stephen / Wareham, Nicholas J

Diabetes

2005 Volume 54, Issue 9, Page(s) 2795–2801

Abstract: Endothelium-derived nitric oxide (NO) facilitates skeletal muscle glucose uptake. Energy expenditure induces the endothelial NO synthase (eNOS) gene, providing a mechanism for insulin-independent glucose disposal. The object was to test 1) the ... ...

Abstract	Endothelium-derived nitric oxide (NO) facilitates skeletal muscle glucose uptake. Energy expenditure induces the endothelial NO synthase (eNOS) gene, providing a mechanism for insulin-independent glucose disposal. The object was to test 1) the association of genetic variation in eNOS, as assessed by haplotype-tagging single nucleotide polymorphisms (htSNPs) with type 2 diabetes, and 2) the interaction between eNOS haplotypes and total energy expenditure on glucose intolerance. Using multivariate models, we tested associations between eNOS htSNPs and diabetes (n = 461 and 474 case and control subjects, respectively) and glucose intolerance (two cohorts of n = 706 and 738 U.K. and Spanish Caucasians, respectively), and we tested eNOS x total energy expenditure interactions on glucose intolerance. An overall association between eNOS haplotype and diabetes was observed (P = 0.004). Relative to the most common haplotype (111), two haplotypes (121 and 212) tended to increase diabetes risk (OR 1.22, 95% CI 0.96-1.55), and one (122) was associated with decreased risk (0.58, 0.39-0.86). In the cohort studies, no association was observed between haplotypes and 2-h glucose (P > 0.10). However, we observed a significant total energy expenditure-haplotype interaction (P = 0.007). Genetic variation at the eNOS locus is associated with diabetes, which may be attributable to an enhanced effect of total energy expenditure on glucose disposal in individuals with specific eNOS haplotypes. Gene-environment interactions such as this may help explain why replication of genetic association frequently fails.
MeSH term(s)	Aged ; Diabetes Mellitus, Type 2/genetics ; Diabetes Mellitus, Type 2/physiopathology ; Energy Metabolism/physiology ; Female ; Glucose Intolerance/physiopathology ; Haplotypes ; Humans ; Male ; Middle Aged ; Odds Ratio ; Polymorphism, Genetic
Language	English
Publishing date	2005-09-01
Publishing country	United States
Document type	Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't ; Research Support, U.S. Gov't, P.H.S.
ZDB-ID	80085-5
ISSN	1939-327X ; 0012-1797
ISSN (online)	1939-327X
ISSN	0012-1797
DOI	10.2337/diabetes.54.9.2795
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Article: Genetic variants in human sterol regulatory element binding protein-1c in syndromes of severe insulin resistance and type 2 diabetes.

Laudes, Matthias / Barroso, Inês / Luan, Jian'an / Soos, Maria A / Yeo, Giles / Meirhaeghe, Aline / Logie, Lisa / Vidal-Puig, Antonio / Schafer, Alan J / Wareham, Nick J / O'Rahilly, Stephen

Diabetes

2004 Volume 53, Issue 3, Page(s) 842–846

Abstract: The transcription factor sterol regulatory element binding protein (SREBP)-1c is intimately involved in the regulation of lipid and glucose metabolism. To investigate whether mutations in this gene might contribute to insulin resistance, we screened the ... ...

Abstract	The transcription factor sterol regulatory element binding protein (SREBP)-1c is intimately involved in the regulation of lipid and glucose metabolism. To investigate whether mutations in this gene might contribute to insulin resistance, we screened the exons encoding the aminoterminal transcriptional activation domain in a cohort of 85 unrelated human subjects with severe insulin resistance. Two missense mutations (P87L and P416A) were found in single affected patients but not in 47 control subjects. However, these variants were indistinguishable from the wild-type in their ability to bind DNA or to transactivate an SREBP-1 responsive promoter construct. We also identified a common intronic single nucleotide polymorphism (C/T) located between exon 18c and 19c. In a case-control study of 517 U.K. Caucasian case subjects and 517 age- and sex-matched control subjects, the T-allele at this locus was significantly associated with type 2 diabetes in men (odds ratio = 1.42 [1.11-1.82], P = 0.005) but not women. In a separate population-based study of 1,100 Caucasians, carriers of the T-allele showed significantly higher levels of total and LDL cholesterol (P < 0.05) compared with wild-type individuals. In summary, we have conducted the first study of the SREBP-1c gene as a candidate for human insulin resistance. Although the rare mutations identified were functionally silent in the assays used, we obtained some evidence, which requires conformation in other populations, that a common variant in the SREBP-1c gene might influence diabetes risk and plasma cholesterol level.
MeSH term(s)	Base Sequence ; CCAAT-Enhancer-Binding Proteins/genetics ; Case-Control Studies ; Cholesterol/blood ; DNA Primers ; DNA-Binding Proteins/genetics ; Diabetes Mellitus, Type 2/genetics ; European Continental Ancestry Group/genetics ; Female ; Genetic Variation ; Humans ; Insulin Resistance/genetics ; Introns ; Male ; Polymorphism, Single Nucleotide ; Reference Values ; Reverse Transcriptase Polymerase Chain Reaction ; Sterol Regulatory Element Binding Protein 1 ; Transcription Factors
Chemical Substances	CCAAT-Enhancer-Binding Proteins ; DNA Primers ; DNA-Binding Proteins ; SREBF1 protein, human ; Sterol Regulatory Element Binding Protein 1 ; Transcription Factors ; Cholesterol (97C5T2UQ7J)
Language	English
Publishing date	2004-02-01
Publishing country	United States
Document type	Comparative Study ; Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	80085-5
ISSN	1939-327X ; 0012-1797
ISSN (online)	1939-327X
ISSN	0012-1797
DOI	10.2337/diabetes.53.3.842
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Article ; Online: Candidate gene association study in type 2 diabetes indicates a role for genes involved in beta-cell function as well as insulin action.

Barroso, Inês / Luan, Jian'an / Middelberg, Rita P S / Harding, Anne-Helen / Franks, Paul W / Jakes, Rupert W / Clayton, D / Schafer, Alan J / O'Rahilly, Stephen / Wareham, Nicholas J

PLoS biology

2003 Volume 1, Issue 1, Page(s) E20

Abstract: Type 2 diabetes is an increasingly common, serious metabolic disorder with a substantial inherited component. It is characterised by defects in both insulin secretion and action. Progress in identification of specific genetic variants predisposing to the ...

Abstract	Type 2 diabetes is an increasingly common, serious metabolic disorder with a substantial inherited component. It is characterised by defects in both insulin secretion and action. Progress in identification of specific genetic variants predisposing to the disease has been limited. To complement ongoing positional cloning efforts, we have undertaken a large-scale candidate gene association study. We examined 152 SNPs in 71 candidate genes for association with diabetes status and related phenotypes in 2,134 Caucasians in a case-control study and an independent quantitative trait (QT) cohort in the United Kingdom. Polymorphisms in five of 15 genes (33%) encoding molecules known to primarily influence pancreatic beta-cell function-ABCC8 (sulphonylurea receptor), KCNJ11 (KIR6.2), SLC2A2 (GLUT2), HNF4A (HNF4alpha), and INS (insulin)-significantly altered disease risk, and in three genes, the risk allele, haplotype, or both had a biologically consistent effect on a relevant physiological trait in the QT study. We examined 35 genes predicted to have their major influence on insulin action, and three (9%)-INSR, PIK3R1, and SOS1-showed significant associations with diabetes. These results confirm the genetic complexity of Type 2 diabetes and provide evidence that common variants in genes influencing pancreatic beta-cell function may make a significant contribution to the inherited component of this disease. This study additionally demonstrates that the systematic examination of panels of biological candidate genes in large, well-characterised populations can be an effective complement to positional cloning approaches. The absence of large single-gene effects and the detection of multiple small effects accentuate the need for the study of larger populations in order to reliably identify the size of effect we now expect for complex diseases.
MeSH term(s)	ATP-Binding Cassette Transporters/genetics ; Aged ; Case-Control Studies ; Cloning, Molecular ; Diabetes Mellitus, Type 2/genetics ; Genotype ; Glucose Transporter Type 2/genetics ; Haplotypes ; Hepatocyte Nuclear Factor 4/genetics ; Humans ; Insulin/genetics ; Insulin/metabolism ; Insulin-Secreting Cells/metabolism ; Middle Aged ; Models, Genetic ; Models, Statistical ; Odds Ratio ; Phosphatidylinositol 3-Kinases/genetics ; Polymorphism, Single Nucleotide ; Polymorphism, Single-Stranded Conformational ; Potassium Channels/genetics ; Potassium Channels, Inwardly Rectifying/genetics ; Receptor, Insulin/genetics ; Receptors, Drug/genetics ; SOS1 Protein/genetics ; Sulfonylurea Receptors
Chemical Substances	ATP-Binding Cassette Transporters ; Glucose Transporter Type 2 ; HNF4A protein, human ; Hepatocyte Nuclear Factor 4 ; Insulin ; Kir6.2 channel ; Potassium Channels ; Potassium Channels, Inwardly Rectifying ; Receptors, Drug ; SLC2A2 protein, human ; SOS1 Protein ; Sulfonylurea Receptors ; Phosphatidylinositol 3-Kinases (EC 2.7.1.-) ; Receptor, Insulin (EC 2.7.10.1)
Language	English
Publishing date	2003-10-13
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2126776-5
ISSN	1545-7885 ; 1544-9173
ISSN (online)	1545-7885
ISSN	1544-9173
DOI	10.1371/journal.pbio.0000020
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Article: PGC-1alpha genotype modifies the association of volitional energy expenditure with [OV0312]O2max.

Franks, Paul W / Barroso, Inês / Luan, Jian'an / Ekelund, Ulf / Crowley, Vivion E F / Brage, Søren / Sandhu, Manjinder S / Jakes, Rupert W / Middelberg, Rita P S / Harding, Anne-Helen / Schafer, Alan J / O'Rahilly, Stephen / Wareham, Nicholas J

Medicine and science in sports and exercise

2003 Volume 35, Issue 12, Page(s) 1998–2004

Abstract: Unlabelled: Sedentary lifestyles are increasingly common and result in low cardiorespiratory fitness ([OV0312]O2max), a well-established predictor of early mortality and coronary heart disease (CHD). Adaptation in [OV0312]O2max after exercise training ... ...

Abstract	Unlabelled: Sedentary lifestyles are increasingly common and result in low cardiorespiratory fitness ([OV0312]O2max), a well-established predictor of early mortality and coronary heart disease (CHD). Adaptation in [OV0312]O2max after exercise training varies considerably between people. Because there are hereditary components to fitness, it is likely that genetic factors explain some of this variability. PPARGC1 (PGC-1alpha) coactivates genes involved in energy transduction and mitochondrial biogenesis. Transgenic mouse data demonstrate that overexpression of PGC-1alpha mRNA increases endurance capacity by transformation of nonoxidative to oxidative skeletal muscle tissue. Other murine studies demonstrate that exercise increases PGC-1alpha mRNA expression. Purpose: To explore whether a candidate polymorphism in the PGC-1alpha gene modifies the association between physical activity energy expenditure (PAEE) and predicted [OV0312]O2max ([OV0312]O2max.pred). Method: We examined whether the Gly482Ser polymorphism of PGC-1alpha modified the relationship between objectively measured PAEE and [OV0312]O2max.pred in a population-based sample of 599 healthy middle-aged people. PAEE was assessed using individual calibration with 4 d of heart rate monitoring. [OV0312]O2max.pred was measured during a submaximal exercise stress test on a bicycle ergometer. Results: Homozygosity at the Ser482 allele was found in 12.7% of the cohort, whereas 38.9% and 48.4% carried the Gly482Gly and Gly482Ser genotypes, respectively. The association between PAEE and [OV0312]O2max.pred (mL x kg(-1) x min(-1)) was strongest in people homozygous for the Ser482 allele (beta = 12.03; P < 0.00001) compared with carriers of the Gly allele (beta = 5.61; P < 0.00001). In a recessive model for the Ser482 allele, the interaction between PAEE and genotype on [OV0312]O2max.pred (L x min(-1)) was highly significant (P = 0.009). Conclusion: Our results indicate that Ser482 homozygotes may be most capable of improving cardiorespiratory fitness when physically active, and that Gly482Ser may explain some of the between-person variance previously reported in cardiorespiratory adaptation after exercise training.
MeSH term(s)	Adult ; Aged ; Energy Metabolism/genetics ; Exercise/physiology ; Female ; Genotype ; Humans ; Male ; Middle Aged ; Oxygen Consumption/genetics ; Physical Fitness/physiology ; Polymorphism, Genetic ; Trans-Activators/genetics ; Transcription Factors/genetics
Chemical Substances	Trans-Activators ; Transcription Factors ; peroxisome-proliferator-activated receptor-gamma coactivator-1
Language	English
Publishing date	2003-12
Publishing country	United States
Document type	Comparative Study ; Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	603994-7
ISSN	1530-0315 ; 0195-9131 ; 0025-7990
ISSN (online)	1530-0315
ISSN	0195-9131 ; 0025-7990
DOI	10.1249/01.MSS.0000099109.73351.81
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Zs.A 869: Show issues

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Article ; Online: A family with severe insulin resistance and diabetes due to a mutation in AKT2.

George, Stella / Rochford, Justin J / Wolfrum, Christian / Gray, Sarah L / Schinner, Sven / Wilson, Jenny C / Soos, Maria A / Murgatroyd, Peter R / Williams, Rachel M / Acerini, Carlo L / Dunger, David B / Barford, David / Umpleby, A Margot / Wareham, Nicholas J / Davies, Huw Alban / Schafer, Alan J / Stoffel, Markus / O'Rahilly, Stephen / Barroso, Inês

Science (New York, N.Y.)

2003 Volume 304, Issue 5675, Page(s) 1325–1328

Abstract: Inherited defects in signaling pathways downstream of the insulin receptor have long been suggested to contribute to human type 2 diabetes mellitus. Here we describe a mutation in the gene encoding the protein kinase AKT2/PKBbeta in a family that shows ... ...

Abstract	Inherited defects in signaling pathways downstream of the insulin receptor have long been suggested to contribute to human type 2 diabetes mellitus. Here we describe a mutation in the gene encoding the protein kinase AKT2/PKBbeta in a family that shows autosomal dominant inheritance of severe insulin resistance and diabetes mellitus. Expression of the mutant kinase in cultured cells disrupted insulin signaling to metabolic end points and inhibited the function of coexpressed, wild-type AKT. These findings demonstrate the central importance of AKT signaling to insulin sensitivity in humans.
MeSH term(s)	Active Transport, Cell Nucleus ; Adipocytes/cytology ; Adipocytes/metabolism ; Adult ; Aged ; Amino Acid Motifs ; Amino Acid Sequence ; Amino Acid Substitution ; Catalytic Domain ; Cell Differentiation ; Cell Line ; Cell Nucleus/metabolism ; Cytosol/metabolism ; DNA-Binding Proteins/metabolism ; Diabetes Mellitus/genetics ; Diabetes Mellitus/metabolism ; Female ; Genes, Dominant ; Hepatocyte Nuclear Factor 3-beta ; Humans ; Hyperinsulinism/genetics ; Hyperinsulinism/metabolism ; Insulin/metabolism ; Insulin Resistance/genetics ; Lipid Metabolism ; Male ; Middle Aged ; Molecular Sequence Data ; Mutation, Missense ; Nuclear Proteins/metabolism ; Pedigree ; Phosphorylation ; Protein Serine-Threonine Kinases/chemistry ; Protein Serine-Threonine Kinases/genetics ; Protein Serine-Threonine Kinases/metabolism ; Proto-Oncogene Proteins/chemistry ; Proto-Oncogene Proteins/genetics ; Proto-Oncogene Proteins/metabolism ; Proto-Oncogene Proteins c-akt ; Signal Transduction ; Transcription Factors
Chemical Substances	DNA-Binding Proteins ; FOXA2 protein, human ; Insulin ; Nuclear Proteins ; Proto-Oncogene Proteins ; Transcription Factors ; Hepatocyte Nuclear Factor 3-beta (135845-92-0) ; AKT1 protein, human (EC 2.7.11.1) ; AKT2 protein, human (EC 2.7.11.1) ; Protein Serine-Threonine Kinases (EC 2.7.11.1) ; Proto-Oncogene Proteins c-akt (EC 2.7.11.1)
Language	English
Publishing date	2003-02-21
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	128410-1
ISSN	1095-9203 ; 0036-8075
ISSN (online)	1095-9203
ISSN	0036-8075
DOI	10.1126/science.1096706
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Zs.A 27: Show issues			Location: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular Jg. 1995 - 2021: Lesesall (1.OG) ab Jg. 2022: Lesesaal (EG)
Zs.MG 77: Show issues

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Article: Digenic inheritance of severe insulin resistance in a human pedigree.

Nature genetics

2002 Volume 31, Issue 4, Page(s) 379–384

Abstract: Impaired insulin action is a key feature of type 2 diabetes and is also found, to a more extreme degree, in familial syndromes of insulin resistance. Although inherited susceptibility to insulin resistance may involve the interplay of several genetic ... ...

Abstract	Impaired insulin action is a key feature of type 2 diabetes and is also found, to a more extreme degree, in familial syndromes of insulin resistance. Although inherited susceptibility to insulin resistance may involve the interplay of several genetic loci, no clear examples of interactions among genes have yet been reported. Here we describe a family in which five individuals with severe insulin resistance, but no unaffected family members, were doubly [corrected] heterozygous with respect to frameshift/premature stop mutations in two unlinked genes, PPARG and PPP1R3A these encode peroxisome proliferator activated receptor gamma, which is highly expressed in adipocytes, and protein phosphatase 1, regulatory subunit 3, the muscle-specific regulatory subunit of protein phosphatase 1, which are centrally involved in the regulation of carbohydrate and lipid metabolism, respectively. That mutant molecules primarily involved in either carbohydrate or lipid metabolism can combine to produce a phenotype of extreme insulin resistance provides a model of interactions among genes that may underlie common human metabolic disorders such as type 2 diabetes.
MeSH term(s)	Adult ; Aged ; Animals ; CHO Cells ; Cricetinae ; DNA-Binding Proteins/genetics ; DNA-Binding Proteins/metabolism ; Diabetes Mellitus, Type 2/genetics ; Female ; Frameshift Mutation ; Heterozygote ; Humans ; Insulin Resistance/genetics ; Male ; Middle Aged ; Pedigree ; Phosphoprotein Phosphatases/genetics ; Phosphoprotein Phosphatases/metabolism ; Protein Phosphatase 1 ; Receptors, Cytoplasmic and Nuclear/genetics ; Receptors, Cytoplasmic and Nuclear/metabolism ; Recombinant Proteins/genetics ; Recombinant Proteins/metabolism ; Transcription Factors/genetics ; Transcription Factors/metabolism
Chemical Substances	DNA-Binding Proteins ; Receptors, Cytoplasmic and Nuclear ; Recombinant Proteins ; Transcription Factors ; PPP1R3A protein, human (EC 3.1.3.-) ; Phosphoprotein Phosphatases (EC 3.1.3.16) ; Protein Phosphatase 1 (EC 3.1.3.16)
Language	English
Publishing date	2002-07-15
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	1108734-1
ISSN	1546-1718 ; 1061-4036
ISSN (online)	1546-1718
ISSN	1061-4036
DOI	10.1038/ng926
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Zs.A 3613: Show issues			Location: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular Jg. 1995 - 2021: Lesesall (2.OG) ab Jg. 2022: Lesesaal (EG)
Zs.MG 46: Show issues

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Article ; Online: International network of cancer genome projects.

Hudson, Thomas J / Anderson, Warwick / Artez, Axel / Barker, Anna D / Bell, Cindy / Bernabé, Rosa R / Bhan, M K / Calvo, Fabien / Eerola, Iiro / Gerhard, Daniela S / Guttmacher, Alan / Guyer, Mark / Hemsley, Fiona M / Jennings, Jennifer L / Kerr, David / Klatt, Peter / Kolar, Patrik / Kusada, Jun / Lane, David P /

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Nature

2010 Volume 464, Issue 7291, Page(s) 993–998

Abstract: The International Cancer Genome Consortium (ICGC) was launched to coordinate large-scale cancer genome studies in tumours from 50 different cancer types and/or subtypes that are of clinical and societal importance across the globe. Systematic studies of ... ...

Abstract	The International Cancer Genome Consortium (ICGC) was launched to coordinate large-scale cancer genome studies in tumours from 50 different cancer types and/or subtypes that are of clinical and societal importance across the globe. Systematic studies of more than 25,000 cancer genomes at the genomic, epigenomic and transcriptomic levels will reveal the repertoire of oncogenic mutations, uncover traces of the mutagenic influences, define clinically relevant subtypes for prognosis and therapeutic management, and enable the development of new cancer therapies.
MeSH term(s)	DNA Methylation ; DNA Mutational Analysis/trends ; Databases, Genetic ; Genes, Neoplasm/genetics ; Genetics, Medical/organization & administration ; Genetics, Medical/trends ; Genome, Human/genetics ; Genomics/organization & administration ; Genomics/trends ; Humans ; Intellectual Property ; International Cooperation ; Mutation ; Neoplasms/classification ; Neoplasms/genetics ; Neoplasms/pathology ; Neoplasms/therapy
Language	English
Publishing date	2010-02-24
Publishing country	England
Document type	Journal Article
ZDB-ID	120714-3
ISSN	1476-4687 ; 0028-0836
ISSN (online)	1476-4687
ISSN	0028-0836
DOI	10.1038/nature08987
Database	MEDical Literature Analysis and Retrieval System OnLINE

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