Works matching IS 09646906 AND DT 2012 AND VI 21 AND IP 1
Results: 24
Impaired functionality and homing of Fancg-deficient hematopoietic stem cells.
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- Human Molecular Genetics, 2012, v. 21, n. 1, p. 121, doi. 10.1093/hmg/ddr447
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- Article
What are the determinants of gene expression levels and breadths in the human genome?
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- Human Molecular Genetics, 2012, v. 21, n. 1, p. 46, doi. 10.1093/hmg/ddr436
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- Article
Dysfunctions in endosomal–lysosomal and autophagy pathways underlie neuropathology in a mouse model for Lafora disease.
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- Human Molecular Genetics, 2012, v. 21, n. 1, p. 175, doi. 10.1093/hmg/ddr452
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- Article
Cardiovascular defects in a mouse model of HOXA1 syndrome.
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- Human Molecular Genetics, 2012, v. 21, n. 1, p. 26, doi. 10.1093/hmg/ddr434
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- Article
Subscription Page.
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- Human Molecular Genetics, 2012, v. 21, n. 1, p. NP, doi. 10.1093/hmg/ddr566
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- Article
IRE1 plays an essential role in ER stress-mediated aggregation of mutant huntingtin via the inhibition of autophagy flux.
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- Human Molecular Genetics, 2012, v. 21, n. 1, p. 101, doi. 10.1093/hmg/ddr445
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Protein interacting with C kinase (PICK1) is a suppressor of spinocerebellar ataxia 3-associated neurodegeneration in Drosophila.
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- Human Molecular Genetics, 2012, v. 21, n. 1, p. 76, doi. 10.1093/hmg/ddr439
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- Article
Cover Page.
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- Human Molecular Genetics, 2012, v. 21, n. 1, p. NP, doi. 10.1093/hmg/ddr562
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- Article
ALS mutations in FUS cause neuronal dysfunction and death in Caenorhabditis elegans by a dominant gain-of-function mechanism.
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- Human Molecular Genetics, 2012, v. 21, n. 1, p. 1, doi. 10.1093/hmg/ddr417
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- Article
Transcriptional responses to loss or gain of function of the leucine-rich repeat kinase 2 (LRRK2) gene uncover biological processes modulated by LRRK2 activity.
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- Human Molecular Genetics, 2012, v. 21, n. 1, p. 163, doi. 10.1093/hmg/ddr451
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- Article
Reprogramming somatic cells into iPS cells activates LINE-1 retroelement mobility.
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- Human Molecular Genetics, 2012, v. 21, n. 1, p. 208, doi. 10.1093/hmg/ddr455
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Charcot–Marie–Tooth disease CMT4A: GDAP1 increases cellular glutathione and the mitochondrial membrane potential.
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- Human Molecular Genetics, 2012, v. 21, n. 1, p. 150, doi. 10.1093/hmg/ddr450
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- Article
Editorial Board.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 1, p. NP, doi. 10.1093/hmg/ddr564
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- Article
Thymidine kinase 2 mutations in autosomal recessive progressive external ophthalmoplegia with multiple mitochondrial DNA deletions.
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- Human Molecular Genetics, 2012, v. 21, n. 1, p. 66, doi. 10.1093/hmg/ddr438
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- Article
Severe neuromuscular denervation of clinically relevant muscles in a mouse model of spinal muscular atrophy.
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- Human Molecular Genetics, 2012, v. 21, n. 1, p. 185, doi. 10.1093/hmg/ddr453
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Modeling abnormal early development with induced pluripotent stem cells from aneuploid syndromes.
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- Human Molecular Genetics, 2012, v. 21, n. 1, p. 32, doi. 10.1093/hmg/ddr435
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- Article
Retrotransposon activation contributes to fragile X premutation rCGG-mediated neurodegeneration.
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- Human Molecular Genetics, 2012, v. 21, n. 1, p. 57, doi. 10.1093/hmg/ddr437
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- Article
Methylation of L1Hs promoters is lower on the inactive X, has a tendency of being higher on autosomes in smaller genomes and shows inter-individual variability at some loci.
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- Human Molecular Genetics, 2012, v. 21, n. 1, p. 219, doi. 10.1093/hmg/ddr456
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- Article
Isoleucyl-tRNA synthetase levels modulate the penetrance of a homoplasmic m.4277T>C mitochondrial tRNAIle mutation causing hypertrophic cardiomyopathy.
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- Human Molecular Genetics, 2012, v. 21, n. 1, p. 85, doi. 10.1093/hmg/ddr440
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The KCNQ1OT1 imprinting control region and non-coding RNA: new properties derived from the study of Beckwith–Wiedemann syndrome and Silver–Russell syndrome cases.
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- Human Molecular Genetics, 2012, v. 21, n. 1, p. 10, doi. 10.1093/hmg/ddr419
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Mitochondrial complex III stabilizes complex I in the absence of NDUFS4 to provide partial activity.
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- Human Molecular Genetics, 2012, v. 21, n. 1, p. 115, doi. 10.1093/hmg/ddr446
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Contents Page.
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- Human Molecular Genetics, 2012, v. 21, n. 1, p. NP, doi. 10.1093/hmg/ddr560
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- Article
Survival of pancreatic beta cells is partly controlled by a TCF7L2-p53-p53INP1-dependent pathway.
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- Human Molecular Genetics, 2012, v. 21, n. 1, p. 196, doi. 10.1093/hmg/ddr454
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- Article
Arginine methylation by PRMT1 regulates nuclear-cytoplasmic localization and toxicity of FUS/TLS harbouring ALS-linked mutations.
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- Human Molecular Genetics, 2012, v. 21, n. 1, p. 136, doi. 10.1093/hmg/ddr448
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- Article