Works matching IS 09646906 AND DT 2008 AND VI 17 AND IP 2
Results: 15
Alpha-cardiac actin mutations produce atrial septal defects.
- Published in:
- Human Molecular Genetics, 2008, v. 17, n. 2, p. 256, doi. 10.1093/hmg/ddm302
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- Article
HYPK, a Huntingtin interacting protein, reduces aggregates and apoptosis induced by N-terminal Huntingtin with 40 glutamines in Neuro2a cells and exhibits chaperone-like activity.
- Published in:
- Human Molecular Genetics, 2008, v. 17, n. 2, p. 240, doi. 10.1093/hmg/ddm301
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- Article
Susceptibility to sequelae of human ocular chlamydial infection associated with allelic variation in IL10 cis-regulation.
- Published in:
- Human Molecular Genetics, 2008, v. 17, n. 2, p. 323, doi. 10.1093/hmg/ddm310
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- Article
ASAP is a novel substrate of the oncogenic mitotic kinase Aurora-A: phosphorylation on Ser625 is essential to spindle formation and mitosis.
- Published in:
- Human Molecular Genetics, 2008, v. 17, n. 2, p. 215, doi. 10.1093/hmg/ddm298
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- Article
A rational mechanism for combination treatment of Huntington's disease using lithium and rapamycin.
- Published in:
- Human Molecular Genetics, 2008, v. 17, n. 2, p. 170, doi. 10.1093/hmg/ddm294
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- Article
LETM1, deleted in Wolf–Hirschhorn syndrome is required for normal mitochondrial morphology and cellular viability.
- Published in:
- Human Molecular Genetics, 2008, v. 17, n. 2, p. 201
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- Article
Mutation in the splicing factor Hprp3p linked to retinitis pigmentosa impairs interactions within the U4/U6 snRNP complex.
- Published in:
- Human Molecular Genetics, 2008, v. 17, n. 2, p. 225, doi. 10.1093/hmg/ddm300
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- Article
The grainyhead like 2 gene (GRHL2), alias TFCP2L3, is associated with age-related hearing impairment.
- Published in:
- Human Molecular Genetics, 2008, v. 17, n. 2, p. 159, doi. 10.1093/hmg/ddm292
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- Article
R91W mutation in Rpe65 leads to milder early-onset retinal dystrophy due to the generation of low levels of 11-cis-retinal.
- Published in:
- Human Molecular Genetics, 2008, v. 17, n. 2, p. 281
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- Article
hVAPB, the causative gene of a heterogeneous group of motor neuron diseases in humans, is functionally interchangeable with its Drosophila homologue DVAP-33A at the neuromuscular junction.
- Published in:
- Human Molecular Genetics, 2008, v. 17, n. 2, p. 266, doi. 10.1093/hmg/ddm303
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- Article
ubiquilin antagonizes presenilin and promotes neurodegeneration in Drosophila.
- Published in:
- Human Molecular Genetics, 2008, v. 17, n. 2, p. 293, doi. 10.1093/hmg/ddm305
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- Article
Association of the gastric alcohol dehydrogenase gene ADH7 with variation in alcohol metabolism.
- Published in:
- Human Molecular Genetics, 2008, v. 17, n. 2, p. 179
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- Publication type:
- Article
Sodium-potassium ATPase β1 subunit is a molecular partner of Wolframin, an endoplasmic reticulum protein involved in ER stress.
- Published in:
- Human Molecular Genetics, 2008, v. 17, n. 2, p. 190
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- Publication type:
- Article
CHMP2B C-truncating mutations in frontotemporal lobar degeneration are associated with an aberrant endosomal phenotype in vitro.
- Published in:
- Human Molecular Genetics, 2008, v. 17, n. 2, p. 313, doi. 10.1093/hmg/ddm309
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- Publication type:
- Article
A function retained by the common mutant CLN3 protein is responsible for the late onset of juvenile neuronal ceroid lipofuscinosis.
- Published in:
- Human Molecular Genetics, 2008, v. 17, n. 2, p. 303
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- Publication type:
- Article