Works matching IS 09646906 AND DT 2014 AND VI 23 AND IP 21
Results: 26
Hypermethylation of the CpG-island near the C9orf72 G4C2-repeat expansion in FTLD patients.
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- Human Molecular Genetics, 2014, v. 23, n. 21, p. 5630, doi. 10.1093/hmg/ddu279
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- Article
Role of OVCA1/DPH1 in craniofacial abnormalities of Miller–Dieker syndrome.
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- Human Molecular Genetics, 2014, v. 23, n. 21, p. 5579, doi. 10.1093/hmg/ddu273
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- Article
Gene expression in mdx mouse muscle in relation to age and exercise: aberrant mechanical–metabolic coupling and implications for pre-clinical studies in Duchenne muscular dystrophy.
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- Human Molecular Genetics, 2014, v. 23, n. 21, p. 5720, doi. 10.1093/hmg/ddu287
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- Article
Folliculin (Flcn) inactivation leads to murine cardiac hypertrophy through mTORC1 deregulation.
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- Human Molecular Genetics, 2014, v. 23, n. 21, p. 5706, doi. 10.1093/hmg/ddu286
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- Article
POMK mutations disrupt muscle development leading to a spectrum of neuromuscular presentations.
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- Human Molecular Genetics, 2014, v. 23, n. 21, p. 5781, doi. 10.1093/hmg/ddu296
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- Article
Genetic dissection reveals that Akt is the critical kinase downstream of LRRK2 to phosphorylate and inhibit FOXO1, and promotes neuron survival.
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- Human Molecular Genetics, 2014, v. 23, n. 21, p. 5649, doi. 10.1093/hmg/ddu281
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- Article
Pharmacologic rescue of axon growth defects in a human iPSC model of hereditary spastic paraplegia SPG3A.
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- Human Molecular Genetics, 2014, v. 23, n. 21, p. 5638, doi. 10.1093/hmg/ddu280
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- Article
Bent bone dysplasia syndrome reveals nucleolar activity for FGFR2 in ribosomal DNA transcription.
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- Human Molecular Genetics, 2014, v. 23, n. 21, p. 5659, doi. 10.1093/hmg/ddu282
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- Article
New syndrome with retinitis pigmentosa is caused by nonsense mutations in retinol dehydrogenase RDH11.
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- Human Molecular Genetics, 2014, v. 23, n. 21, p. 5774, doi. 10.1093/hmg/ddu291
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- Article
Latent TGF-β binding protein-2 is essential for the development of ciliary zonule microfibrils.
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- Human Molecular Genetics, 2014, v. 23, n. 21, p. 5672, doi. 10.1093/hmg/ddu283
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- Article
Inhibition of protein translation by the DISC1-Boymaw fusion gene from a Scottish family with major psychiatric disorders.
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- Human Molecular Genetics, 2014, v. 23, n. 21, p. 5683, doi. 10.1093/hmg/ddu285
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- Article
Contents Page.
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- Human Molecular Genetics, 2014, v. 23, n. 21, p. NP, doi. 10.1093/hmg/ddu527
- Publication type:
- Article
Peroxidasin is essential for eye development in the mouse.
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- Human Molecular Genetics, 2014, v. 23, n. 21, p. 5597, doi. 10.1093/hmg/ddu274
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- Article
TNNI3K mutation in familial syndrome of conduction system disease, atrial tachyarrhythmia and dilated cardiomyopathy.
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- Human Molecular Genetics, 2014, v. 23, n. 21, p. 5793, doi. 10.1093/hmg/ddu297
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- Article
Cover Page.
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- Human Molecular Genetics, 2014, v. 23, n. 21, p. NP, doi. 10.1093/hmg/ddu528
- Publication type:
- Article
The chaperone-like protein 14-3-3η interacts with human α-synuclein aggregation intermediates rerouting the amyloidogenic pathway and reducing α-synuclein cellular toxicity.
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- Human Molecular Genetics, 2014, v. 23, n. 21, p. 5615, doi. 10.1093/hmg/ddu275
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- Article
Gaucher disease due to saposin C deficiency is an inherited lysosomal disease caused by rapidly degraded mutant proteins.
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- Human Molecular Genetics, 2014, v. 23, n. 21, p. 5814, doi. 10.1093/hmg/ddu299
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- Article
Loss of TFB1M results in mitochondrial dysfunction that leads to impaired insulin secretion and diabetes.
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- Human Molecular Genetics, 2014, v. 23, n. 21, p. 5733, doi. 10.1093/hmg/ddu288
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- Article
Editorial Board.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 21, p. NP, doi. 10.1093/hmg/ddu529
- Publication type:
- Article
Novel genetic associations with serum level metabolites identified by phenotype set enrichment analyses.
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- Human Molecular Genetics, 2014, v. 23, n. 21, p. 5847, doi. 10.1093/hmg/ddu301
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- Article
Extensive investigation of the IGF2/H19 imprinting control region reveals novel OCT4/SOX2 binding site defects associated with specific methylation patterns in Beckwith-Wiedemann syndrome.
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- Human Molecular Genetics, 2014, v. 23, n. 21, p. 5763, doi. 10.1093/hmg/ddu290
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- Article
Human skin color is influenced by an intergenic DNA polymorphism regulating transcription of the nearby BNC2 pigmentation gene.
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- Human Molecular Genetics, 2014, v. 23, n. 21, p. 5750, doi. 10.1093/hmg/ddu289
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- Article
Tuning intracellular homeostasis of human uroporphyrinogen III synthase by enzyme engineering at a single hotspot of congenital erythropoietic porphyria.
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- Human Molecular Genetics, 2014, v. 23, n. 21, p. 5805, doi. 10.1093/hmg/ddu298
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- Article
Subscription Page.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 21, p. NP, doi. 10.1093/hmg/ddu530
- Publication type:
- Article
Rare and common variants in extracellular matrix gene Fibrillin 2 (FBN2) are associated with macular degeneration.
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- Human Molecular Genetics, 2014, v. 23, n. 21, p. 5827, doi. 10.1093/hmg/ddu276
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- Article
Coding variants in TREM2 increase risk for Alzheimer's disease.
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- Human Molecular Genetics, 2014, v. 23, n. 21, p. 5838, doi. 10.1093/hmg/ddu277
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- Article