Works matching IS 09646906 AND DT 2014 AND VI 23 AND IP 20
Results: 27
Genome-wide association study and mouse expression data identify a highly conserved 32 kb intergenic region between WNT3 and WNT9b as possible susceptibility locus for isolated classic exstrophy of the bladder.
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- Human Molecular Genetics, 2014, v. 23, n. 20, p. 5536, doi. 10.1093/hmg/ddu259
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- Article
Contents Page.
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- Human Molecular Genetics, 2014, v. 23, n. 20, p. NP, doi. 10.1093/hmg/ddu481
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- Article
Subscription Page.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 20, p. NP, doi. 10.1093/hmg/ddu484
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- Article
Analysis of FMRP mRNA target datasets reveals highly associated mRNAs mediated by G-quadruplex structures formed via clustered WGGA sequences.
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- Human Molecular Genetics, 2014, v. 23, n. 20, p. 5479, doi. 10.1093/hmg/ddu272
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- Article
STRA6 is critical for cellular vitamin A uptake and homeostasis.
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- Human Molecular Genetics, 2014, v. 23, n. 20, p. 5402, doi. 10.1093/hmg/ddu258
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- Article
Genome-wide association study yields variants at 20p12.2 that associate with urinary bladder cancer.
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- Human Molecular Genetics, 2014, v. 23, n. 20, p. 5545, doi. 10.1093/hmg/ddu264
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- Article
A comprehensive examination of breast cancer risk loci in African American women.
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- Human Molecular Genetics, 2014, v. 23, n. 20, p. 5518, doi. 10.1093/hmg/ddu252
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- Article
Caspase-12 ablation preserves muscle function in the mdx mouse.
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- Human Molecular Genetics, 2014, v. 23, n. 20, p. 5325, doi. 10.1093/hmg/ddu249
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- Article
mTOR pathway is activated by PKA in adrenocortical cells and participates in vivo to apoptosis resistance in primary pigmented nodular adrenocortical disease (PPNAD).
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- Human Molecular Genetics, 2014, v. 23, n. 20, p. 5418, doi. 10.1093/hmg/ddu265
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- Article
Editorial Board.
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- Human Molecular Genetics, 2014, v. 23, n. 20, p. NP, doi. 10.1093/hmg/ddu483
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- Article
NIM811, a cyclophilin inhibitor without immunosuppressive activity, is beneficial in collagen VI congenital muscular dystrophy models.
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- Human Molecular Genetics, 2014, v. 23, n. 20, p. 5353, doi. 10.1093/hmg/ddu254
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- Article
Genetic factors affecting gene transcription and catalytic activity of UDP-glucuronosyltransferases in human liver.
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- Human Molecular Genetics, 2014, v. 23, n. 20, p. 5558, doi. 10.1093/hmg/ddu268
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- Article
Bardet–Biedl syndrome proteins 1 and 3 regulate the ciliary trafficking of polycystic kidney disease 1 protein.
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- Human Molecular Genetics, 2014, v. 23, n. 20, p. 5441, doi. 10.1093/hmg/ddu267
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- Article
Inheritance of rare functional GCKR variants and their contribution to triglyceride levels in families.
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- Human Molecular Genetics, 2014, v. 23, n. 20, p. 5570, doi. 10.1093/hmg/ddu269
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- Article
DUX4-induced gene expression is the major molecular signature in FSHD skeletal muscle.
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- Human Molecular Genetics, 2014, v. 23, n. 20, p. 5342, doi. 10.1093/hmg/ddu251
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- Article
Gene dosage of the transcription factor Fingerin (bHLHA9) affects digit development and links syndactyly to ectrodactyly.
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- Human Molecular Genetics, 2014, v. 23, n. 20, p. 5394, doi. 10.1093/hmg/ddu257
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- Article
Cover Page.
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- Human Molecular Genetics, 2014, v. 23, n. 20, p. NP, doi. 10.1093/hmg/ddu482
- Publication type:
- Article
ACVR1 p.Q207E causes classic fibrodysplasia ossificans progressiva and is functionally distinct from the engineered constitutively active ACVR1 p.Q207D variant.
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- Human Molecular Genetics, 2014, v. 23, n. 20, p. 5364, doi. 10.1093/hmg/ddu255
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- Article
P38α MAPK underlies muscular dystrophy and myofiber death through a Bax-dependent mechanism.
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- Human Molecular Genetics, 2014, v. 23, n. 20, p. 5452, doi. 10.1093/hmg/ddu270
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- Article
Deletion of ameloblastin exon 6 is associated with amelogenesis imperfecta.
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- Human Molecular Genetics, 2014, v. 23, n. 20, p. 5317, doi. 10.1093/hmg/ddu247
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- Article
Comparative epigenetic analyses reveal distinct patterns of oncogenic pathways activation in breast cancer subtypes.
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- Human Molecular Genetics, 2014, v. 23, n. 20, p. 5378, doi. 10.1093/hmg/ddu256
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- Article
Atmin mediates kidney morphogenesis by modulating Wnt signaling.
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- Human Molecular Genetics, 2014, v. 23, n. 20, p. 5303, doi. 10.1093/hmg/ddu246
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- Article
Meta-analysis of genome-wide association studies in East Asian-ancestry populations identifies four new loci for body mass index.
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- Human Molecular Genetics, 2014, v. 23, n. 20, p. 5492, doi. 10.1093/hmg/ddu248
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- Article
Genome-wide association study identifies a novel susceptibility gene for serum TSH levels in Chinese populations.
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- Human Molecular Genetics, 2014, v. 23, n. 20, p. 5505
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- Article
A comprehensive picture of the mutations associated with aromatic amino acid decarboxylase deficiency: from molecular mechanisms to therapy implications.
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- Human Molecular Genetics, 2014, v. 23, n. 20, p. 5429, doi. 10.1093/hmg/ddu266
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- Article
PMD patient mutations reveal a long-distance intronic interaction that regulates PLP1/DM20 alternative splicing.
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- Human Molecular Genetics, 2014, v. 23, n. 20, p. 5464, doi. 10.1093/hmg/ddu271
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Enrichment of pathogenic alleles in the brittle cornea gene, ZNF469, in keratoconus.
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- Human Molecular Genetics, 2014, v. 23, n. 20, p. 5527, doi. 10.1093/hmg/ddu253
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- Article