Works matching IS 09646906 AND DT 2007 AND VI 16 AND IP 9
Results: 12
A heterozygous c-Maf transactivation domain mutation causes congenital cataract and enhances target gene activation.
- Published in:
- Human Molecular Genetics, 2007, v. 16, n. 9, p. 1030, doi. 10.1093/hmg/ddm048
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- Article
MTHFR C677T has differential influence on risk of MSI and MSS colorectal cancer.
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- Human Molecular Genetics, 2007, v. 16, n. 9, p. 1072, doi. 10.1093/hmg/ddm055
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- Article
RCAN1 (DSCR1) increases neuronal susceptibility to oxidative stress: a potential pathogenic process in neurodegeneration.
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- Human Molecular Genetics, 2007, v. 16, n. 9, p. 1039, doi. 10.1093/hmg/ddm049
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- Article
Mpp4 is required for proper localization of plasma membrane calcium ATPases and maintenance of calcium homeostasis at the rod photoreceptor synaptic terminals.
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- Human Molecular Genetics, 2007, v. 16, n. 9, p. 1017, doi. 10.1093/hmg/ddm047
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- Article
Neurofibromatosis-1 (Nf1) heterozygous brain microglia elaborate paracrine factors that promote Nf1-deficient astrocyte and glioma growth.
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- Human Molecular Genetics, 2007, v. 16, n. 9, p. 1098, doi. 10.1093/hmg/ddm059
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- Article
Loss of MMP-2 disrupts skeletal and craniofacial development and results in decreased bone mineralization, joint erosion and defects in osteoblast and osteoclast growth.
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- Human Molecular Genetics, 2007, v. 16, n. 9, p. 1113, doi. 10.1093/hmg/ddm060
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- Article
Missense mutation of the COQ2 gene causes defects of bioenergetics and de novo pyrimidine synthesis.
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- Human Molecular Genetics, 2007, v. 16, n. 9, p. 1091
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- Article
Absence of Btn1p in the yeast model for juvenile Batten disease may cause arginine to become toxic to yeast cells.
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- Human Molecular Genetics, 2007, v. 16, n. 9, p. 1007, doi. 10.1093/hmg/ddm046
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- Article
Comparative genomic and functional analyses reveal a novel cis-acting PTEN regulatory element as a highly conserved functional E-box motif deleted in Cowden syndrome.
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- Human Molecular Genetics, 2007, v. 16, n. 9, p. 1058, doi. 10.1093/hmg/ddm053
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- Article
Hsp27 overexpression in the R6/2 mouse model of Huntington's disease: chronic neurodegeneration does not induce Hsp27 activation.
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- Human Molecular Genetics, 2007, v. 16, n. 9, p. 1078, doi. 10.1093/hmg/ddm057
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- Article
Single nucleotide polymorphism associated with mature miR-125a alters the processing of pri-miRNA.
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- Human Molecular Genetics, 2007, v. 16, n. 9, p. 1124, doi. 10.1093/hmg/ddm062
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- Article
Counting potentially functional variants in BRCA1, BRCA2 and ATM predicts breast cancer susceptibility.
- Published in:
- Human Molecular Genetics, 2007, v. 16, n. 9, p. 1051, doi. 10.1093/hmg/ddm050
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- Article