Works matching IS 09646906 AND DT 2005 AND VI 14 AND IP 22
Results: 19
Two single-nucleotide polymorphisms in the human vitamin D receptor promoter change protein–DNA complex formation and are associated with height and vitamin D status in adolescent girls.
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- Human Molecular Genetics, 2005, v. 14, n. 22, p. 3539
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- Article
Abnormal development of the apical ectodermal ridge and polysyndactyly in Megf7-deficient mice.
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- Human Molecular Genetics, 2005, v. 14, n. 22, p. 3523, doi. 10.1093/hmg/ddi381
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- Article
Mutant SPTLC1 dominantly inhibits serine palmitoyltransferase activity in vivo and confers an age-dependent neuropathy.
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- Human Molecular Genetics, 2005, v. 14, n. 22, p. 3507, doi. 10.1093/hmg/ddi380
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- Article
Cancer development induced by graded expression of Snail in mice.
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- Human Molecular Genetics, 2005, v. 14, n. 22, p. 3449, doi. 10.1093/hmg/ddi373
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- Article
Binding sites for metabolic disease related transcription factors inferred at base pair resolution by chromatin immunoprecipitation and genomic microarrays.
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- Human Molecular Genetics, 2005, v. 14, n. 22, p. 3435, doi. 10.1093/hmg/ddi378
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- Article
Mitochondrial import and enzymatic activity of PINK1 mutants associated to recessive parkinsonism.
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- Human Molecular Genetics, 2005, v. 14, n. 22, p. 3477, doi. 10.1093/hmg/ddi377
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- Article
Multiple mutations in mouse Chd7 provide models for CHARGE syndrome.
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- Human Molecular Genetics, 2005, v. 14, n. 22, p. 3463, doi. 10.1093/hmg/ddi375
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- Article
Mutations in the beta-subunit of the epithelial Na+ channel in patients with a cystic fibrosis-like syndrome.
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- Human Molecular Genetics, 2005, v. 14, n. 22, p. 3493, doi. 10.1093/hmg/ddi374
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- Article
Single nucleotide polymorphisms in TNFSF15 confer susceptibility to Crohn's disease.
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- Human Molecular Genetics, 2005, v. 14, n. 22, p. 3499, doi. 10.1093/hmg/ddi379
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- Article
Overexpression of yeast hsp104 reduces polyglutamine aggregation and prolongs survival of a transgenic mouse model of Huntington's disease.
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- Human Molecular Genetics, 2005, v. 14, n. 22, p. 3425, doi. 10.1093/hmg/ddi372
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- Article
A Caenorhabditis elegans Parkin mutant with altered solubility couples α-synuclein aggregation to proteotoxic stress.
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- Human Molecular Genetics, 2005, v. 14, n. 22, p. 3407, doi. 10.1093/hmg/ddi371
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- Article
Cannabinoid receptor type 2 gene is associated with human osteoporosis.
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- Human Molecular Genetics, 2005, v. 14, n. 22, p. 3389, doi. 10.1093/hmg/ddi370
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- Article
Detecting tissue-specific alternative splicing and disease-associated aberrant splicing of the PTCH gene with exon junction microarrays.
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- Human Molecular Genetics, 2005, v. 14, n. 22, p. 3379, doi. 10.1093/hmg/ddi369
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- Article
Human microRNA (miR29b) expression controls the amount of branched chain α-ketoacid dehydrogenase complex in a cell.
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- Human Molecular Genetics, 2005, v. 14, n. 22, p. 3371, doi. 10.1093/hmg/ddi368
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- Article
RNAi-mediated suppression of the mitochondrial iron chaperone, frataxin, in Drosophila.
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- Human Molecular Genetics, 2005, v. 14, n. 22, p. 3397, doi. 10.1093/hmg/ddi367
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- Article
E-cadherin and vitamin D receptor regulation by SNAIL and ZEB1 in colon cancer: clinicopathological correlations.
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- Human Molecular Genetics, 2005, v. 14, n. 22, p. 3361, doi. 10.1093/hmg/ddi366
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- Article
Expression of the homeobox gene Pitx2 in neural crest is required for optic stalk and ocular anterior segment development.
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- Human Molecular Genetics, 2005, v. 14, n. 22, p. 3347, doi. 10.1093/hmg/ddi365
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- Publication type:
- Article
Development of MPS IVA mouse (Galnstm(hC79S·mC76S)slu) tolerant to human N-acetylgalactosamine-6-sulfate sulfatase.
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- Human Molecular Genetics, 2005, v. 14, n. 22, p. 3321, doi. 10.1093/hmg/ddi364
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- Article
Whole genome linkage scan of recurrent depressive disorder from the depression network study.
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- Human Molecular Genetics, 2005, v. 14, n. 22, p. 3337, doi. 10.1093/hmg/ddi363
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- Article