Works matching IS 09646906 AND DT 2001 AND VI 10 AND IP 5
Results: 13
Mice deficient in methylenetetrahydrofolate reductase exhibit hyperhomocysteinemia and decreased methylation capacity, with neuropathology and aortic lipid deposition.
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- Human Molecular Genetics, 2001, v. 10, n. 5, p. 433, doi. 10.1093/hmg/10.5.433
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- Article
Fgd1, the Cdc42 guanine nucleotide exchange factor responsible for faciogenital dysplasia, is localized to the subcortical actin cytoskeleton and Golgi membrane.
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- Human Molecular Genetics, 2001, v. 10, n. 5, p. 485, doi. 10.1093/hmg/10.5.485
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- Article
A Ser[sup 365] → Cys mutation of fibroblast growth factor receptor 3 in mouse downregulates Ihh/PTHrP signals and causes severe achondroplasia.
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- Human Molecular Genetics, 2001, v. 10, n. 5, p. 457, doi. 10.1093/hmg/10.5.457
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WFS1 (Wolfram syndrome 1) gene product: predominant subcellular localization to endoplasmic reticulum in cultured cells and neuronal expression in rat brain.
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- Human Molecular Genetics, 2001, v. 10, n. 5, p. 477, doi. 10.1093/hmg/10.5.477
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- Article
Increased tumour risk for BWS patients correlates with aberrant H19 and not KCNQ1OT1 methylation: occurrence of KCNQ1OT1 hypomethylation in familial cases of BWS.
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- Human Molecular Genetics, 2001, v. 10, n. 5, p. 467, doi. 10.1093/hmg/10.5.467
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- Article
A nonsense mutation in the NDUFS4 gene encoding the 18 kDa (AQDQ) subunit of complex I abolishes assembly and activity of the complex in a patient with Leigh-like syndrome.
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- Human Molecular Genetics, 2001, v. 10, n. 5, p. 529, doi. 10.1093/hmg/10.5.529
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Evolution of instability at coding and non-coding repeat sequences in human MSI-H colorectal cancers.
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- Human Molecular Genetics, 2001, v. 10, n. 5, p. 513, doi. 10.1093/hmg/10.5.513
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- Article
Increased bone density in sclerosteosis is due to the deficiency of a novel secreted protein (SOST).
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- Human Molecular Genetics, 2001, v. 10, n. 5, p. 537, doi. 10.1093/hmg/10.5.537
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- Article
Ulcerative colitis and Crohn's disease: distinctive gene expression profiles and novel susceptibility candidate genes.
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- Human Molecular Genetics, 2001, v. 10, n. 5, p. 445, doi. 10.1093/hmg/10.5.445
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The genome-wide distribution of background linkage disequilibrium in a population isolate.
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- Human Molecular Genetics, 2001, v. 10, n. 5, p. 545, doi. 10.1093/hmg/10.5.545
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- Article
Co-regulation of survival of motor neuron (SMN) protein and its interactor SIP1 during development and in spinal muscular atrophy.
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- Human Molecular Genetics, 2001, v. 10, n. 5, p. 497, doi. 10.1093/hmg/10.5.497
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- Article
Extra-chromosomal telomeric DNA in cells from Atm [sup -/-] mice and patients with ataxia-telangiectasia.
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- Human Molecular Genetics, 2001, v. 10, n. 5, p. 519, doi. 10.1093/hmg/10.5.519
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- Article
The mouse slalom mutant demonstrates a role for Jagged1 in neuroepithelial patterning in the organ of Corti.
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- Human Molecular Genetics, 2001, v. 10, n. 5, p. 507, doi. 10.1093/hmg/10.5.507
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- Article