The Meckel–Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation.
- Published in:
- Human Molecular Genetics, 2007, v. 16, n. 2, p. 173, doi. 10.1093/hmg/ddl459
- By:
- Publication type:
- Article
Works matching IS 09646906 AND DT 2007 AND VI 16 AND IP 2
Results: 11
1
2
A Gne knockout mouse expressing human V572L mutation develops features similar to distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy.
- Published in:
- Human Molecular Genetics, 2007, v. 16, n. 2, p. 115, doi. 10.1093/hmg/ddl446
- By:
- Publication type:
- Article
3
Parkinson's disease-associated mutations in LRRK2 link enhanced GTP-binding and kinase activities to neuronal toxicity.
- Published in:
- Human Molecular Genetics, 2007, v. 16, n. 2, p. 223, doi. 10.1093/hmg/ddl471
- By:
- Publication type:
- Article
4
Long-range conserved non-coding SHOX sequences regulate expression in developing chicken limb and are associated with short stature phenotypes in human patients.
- Published in:
- Human Molecular Genetics, 2007, v. 16, n. 2, p. 210
- By:
- Publication type:
- Article
5
Tissue-specific effects of wild-type and mutant connexin 31: a role in neurite outgrowth.
- Published in:
- Human Molecular Genetics, 2007, v. 16, n. 2, p. 165, doi. 10.1093/hmg/ddl452
- By:
- Publication type:
- Article
6
Disease-associated intronic variants in the ErbB4 gene are related to altered ErbB4 splice-variant expression in the brain in schizophrenia.
- Published in:
- Human Molecular Genetics, 2007, v. 16, n. 2, p. 129, doi. 10.1093/hmg/ddl449
- By:
- Publication type:
- Article
7
Fine mapping of a linkage region on chromosome 17p13 reveals that GABARAP and DLG4 are associated with vulnerability to nicotine dependence in European-Americans.
- Published in:
- Human Molecular Genetics, 2007, v. 16, n. 2, p. 142, doi. 10.1093/hmg/ddl450
- By:
- Publication type:
- Article
8
Truncated APC regulates the transcriptional activity of β-catenin in a cell cycle dependent manner.
- Published in:
- Human Molecular Genetics, 2007, v. 16, n. 2, p. 199, doi. 10.1093/hmg/ddl464
- By:
- Publication type:
- Article
9
Effect of ATM, CHEK2 and ERBB2 TAGSNPs and haplotypes on endometrial cancer risk.
- Published in:
- Human Molecular Genetics, 2007, v. 16, n. 2, p. 154
- By:
- Publication type:
- Article
10
Nuclear import and export signals are essential for proper cellular trafficking and function of ZIC3.
- Published in:
- Human Molecular Genetics, 2007, v. 16, n. 2, p. 187, doi. 10.1093/hmg/ddl461
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- Publication type:
- Article
11
Effects of genome-wide heterozygosity on a range of biomedically relevant human quantitative traits.
- Published in:
- Human Molecular Genetics, 2007, v. 16, n. 2, p. 233, doi. 10.1093/hmg/ddl473
- By:
- Publication type:
- Article