Works matching IS 09646906 AND DT 2015 AND VI 24 AND IP 24
Results: 23
A non-synonymous single-nucleotide polymorphism associated with multiple sclerosis risk affects the EVI5 interactome.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 24, p. 7151, doi. 10.1093/hmg/ddv412
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- Article
APP overexpression in the absence of NPC1 exacerbates metabolism of amyloidogenic proteins of Alzheimer's disease.
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- Human Molecular Genetics, 2015, v. 24, n. 24, p. 7132, doi. 10.1093/hmg/ddv413
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- Article
Genome-wide disruption of 5-hydroxymethylcytosine in a mouse model of autism.
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- Human Molecular Genetics, 2015, v. 24, n. 24, p. 7121, doi. 10.1093/hmg/ddv411
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- Article
SCN4A pore mutation pathogenetically contributes to autosomal dominant essential tremor and may increase susceptibility to epilepsy.
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- Human Molecular Genetics, 2015, v. 24, n. 24, p. 7111, doi. 10.1093/hmg/ddv410
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- Article
Use of the HPRT gene to study nuclease-induced DNA double-strand break repair.
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- Human Molecular Genetics, 2015, v. 24, n. 24, p. 7097, doi. 10.1093/hmg/ddv409
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- Article
Mutsβ generates both expansions and contractions in a mouse model of the Fragile X-associated disorders.
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- Human Molecular Genetics, 2015, v. 24, n. 24, p. 7087, doi. 10.1093/hmg/ddv408
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- Article
Impaired bone remodeling and its correction by combination therapy in a mouse model of mucopolysaccharidosis-I.
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- Human Molecular Genetics, 2015, v. 24, n. 24, p. 7075, doi. 10.1093/hmg/ddv407
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- Article
Photoreceptor phagosome processing defects and disturbed autophagy in retinal pigment epithelium of Cln3<sup>Δex1-6</sup> mice modelling juvenile neuronal ceroid lipofuscinosis (Batten disease).
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- Human Molecular Genetics, 2015, v. 24, n. 24, p. 7060, doi. 10.1093/hmg/ddv406
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- Article
Molecular and biochemical alterations in tubular epithelial cells of patients with isolated methylmalonic aciduria.
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- Human Molecular Genetics, 2015, v. 24, n. 24, p. 7049, doi. 10.1093/hmg/ddv405
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- Article
Neuronopathic Gaucher disease: dysregulated mRNAs and miRNAs in brain pathogenesis and effects of pharmacologic chaperone treatment in a mouse model.
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- Human Molecular Genetics, 2015, v. 24, n. 24, p. 7031, doi. 10.1093/hmg/ddv404
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- Article
A study of whirlin isoforms in the mouse vestibular system suggests potential vestibular dysfunction in DFNB31-deficient patients.
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- Human Molecular Genetics, 2015, v. 24, n. 24, p. 7017, doi. 10.1093/hmg/ddv403
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- Article
A neural crest origin for cohesinopathy heart defects.
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- Human Molecular Genetics, 2015, v. 24, n. 24, p. 7005, doi. 10.1093/hmg/ddv402
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- Article
Genetic inhibition of JNK3 ameliorates spinal muscular atrophy.
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- Human Molecular Genetics, 2015, v. 24, n. 24, p. 6986, doi. 10.1093/hmg/ddv401
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- Article
The cumulative effect of assisted reproduction procedures on placental development and epigenetic perturbations in a mouse model.
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- Human Molecular Genetics, 2015, v. 24, n. 24, p. 6975, doi. 10.1093/hmg/ddv400
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- Article
Disruption of murine Adamtsl4 results in zonular fiber detachment from the lens and in retinal pigment epithelium dedifferentiation.
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- Human Molecular Genetics, 2015, v. 24, n. 24, p. 6958, doi. 10.1093/hmg/ddv399
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- Article
Individual USH2 proteins make distinct contributions to the ankle link complex during development of the mouse cochlear stereociliary bundle.
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- Human Molecular Genetics, 2015, v. 24, n. 24, p. 6944, doi. 10.1093/hmg/ddv398
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- Article
Expanded GAA repeats impede transcription elongation through the FXN gene and induce transcriptional silencing that is restricted to the FXN locus.
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- Human Molecular Genetics, 2015, v. 24, n. 24, p. 6932, doi. 10.1093/hmg/ddv397
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- Article
Targeting estrogen receptor β as preventive therapeutic strategy for Leber's hereditary optic neuropathy.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 24, p. 6921, doi. 10.1093/hmg/ddv396
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- Article
3'UTR shortening and EGF signaling: implications for breast cancer.
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- Human Molecular Genetics, 2015, v. 24, n. 24, p. 6910, doi. 10.1093/hmg/ddv391
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- Article
Identification of dietary alanine toxicity and trafficking dysfunction in a Drosophila model of hereditary sensory and autonomic neuropathy type 1.
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- Human Molecular Genetics, 2015, v. 24, n. 24, p. 6899, doi. 10.1093/hmg/ddv390
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- Article
Fragile X protein mitigates TDP-43 toxicity by remodeling RNA granules and restoring translation.
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- Human Molecular Genetics, 2015, v. 24, n. 24, p. 6886, doi. 10.1093/hmg/ddv389
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- Article
Overexpression of KLC2 due to a homozygous deletion in the non-coding region causes SPOAN syndrome.
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- Human Molecular Genetics, 2015, v. 24, n. 24, p. 6877, doi. 10.1093/hmg/ddv388
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- Article
onAltered glycolipid and glycerophospholipid signaling drive inflammatory cascades in adrenomyeloneuropathy.
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- Human Molecular Genetics, 2015, v. 24, n. 24, p. 6861, doi. 10.1093/hmg/ddv375
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- Article