Found: 15
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PTEN induces apoptosis and cell cycle arrest through phosphoinositol-3-kinase/Akt-dependent and -independent pathways.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 3, p. 237, doi. 10.1093/hmg/10.3.237
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- Publication type:
- Article
Identification of mutations in the cardiac ryanodine receptor gene in families affected with arrhythmogenic right ventricular cardiomyopathy type 2 (ARVD2).
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 3, p. 189, doi. 10.1093/hmg/10.3.189
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- Publication type:
- Article
Transient ectopic expression of PTEN in thyroid cancer cell lines induces cell cycle arrest and cell type-dependent cell death.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 3, p. 251, doi. 10.1093/hmg/10.3.251
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- Article
Hay-Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 3, p. 221, doi. 10.1093/hmg/10.3.221
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- Article
Triple A syndrome is caused by mutations in AAAS, a new WD-repeat protein gene.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 3, p. 283, doi. 10.1093/hmg/10.3.283
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- Publication type:
- Article
The spatial organization of human chromosomes within the nuclei of normal and emerin-mutant cells.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 3, p. 211, doi. 10.1093/hmg/10.3.211
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- Publication type:
- Article
A translocation breakpoint cluster disrupts the newly defined 3 ′ end of the SNURF - SNRPN transcription unit on chromosome 15.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 3, p. 201, doi. 10.1093/hmg/10.3.201
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- Publication type:
- Article
Transgenic mice expressing mutant caveolin-3 show severe myopathy associated with increased nNOS activity.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 3, p. 173, doi. 10.1093/hmg/10.3.173
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- Publication type:
- Article
Maternal sex chromosome non-disjunction: evidence for X chromosome-specific risk factors.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 3, p. 243, doi. 10.1093/hmg/10.3.243
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- Publication type:
- Article
Distinct roles for two N-terminal cleaved domains in mitochondrial import of the yeast frataxin homolog, Yfh1p.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 3, p. 259, doi. 10.1093/hmg/10.3.259
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- Publication type:
- Article
Congenital insensitivity to pain with anhidrosis (CIPA): effect of TRKA (NTRK1 ) missense mutations on autophosphorylation of the receptor tyrosine kinase for nerve growth factor.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 3, p. 179, doi. 10.1093/hmg/10.3.179
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- Publication type:
- Article
High resolution deletion analysis of constitutional DNA from neurofibromatosis type 2 (NF2) patients using microarray-CGH.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 3, p. 271, doi. 10.1093/hmg/10.3.271
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- Publication type:
- Article
Mutations in the human forkhead transcription factor FOXE3 associated with anterior segment ocular dysgenesis and cataracts.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 3, p. 231, doi. 10.1093/hmg/10.3.231
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- Publication type:
- Article
Mutations in the transcriptional activator EYA4 cause late-onset deafness at the DFNA10 locus.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 3, p. 195, doi. 10.1093/hmg/10.3.195
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- Publication type:
- Article
Gentamicin-mediated suppression of Hurler syndrome stop mutations restores a low level of α -l -iduronidase activity and reduces lysosomal glycosaminoglycan accumulation.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 3, p. 291, doi. 10.1093/hmg/10.3.291
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- Publication type:
- Article