Works matching IS 09646906 AND DT 2016 AND VI 25 AND IP 20
Results: 21
Cystic fibrosis gene modifier SLC26A9 modulates airway response to CFTR-directed therapeutics.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 20, p. 4590, doi. 10.1093/hmg/ddw290
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- Article
CORRIGENDUM.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 20, p. 4610, doi. 10.1093/hmg/ddx023
- Publication type:
- Article
A genetic variation associated with plasma erythropoietin and a non-coding transcript of PRKAR1A in sickle cell disease.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 20, p. 4601, doi. 10.1093/hmg/ddw299
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- Article
Mouse Dux is myotoxic and shares partial functional homology with its human paralog DUX4.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 20, p. 4577, doi. 10.1093/hmg/ddw287
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- Article
Permanent inactivation of Huntington's disease mutation by personalized allele-specific CRISPR/Cas9.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 20, p. 4566, doi. 10.1093/hmg/ddw286
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- Article
Identification and validation of seven new loci showing differential DNA methylation related to serum lipid profile: an epigenome-wide approach. The REGICOR study.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 20, p. 4556, doi. 10.1093/hmg/ddw285
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- Article
Mutations in the polyglutamylase gene TTLL5, expressed in photoreceptor cells and spermatozoa, are associated with cone-rod degeneration and reduced male fertility.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 20, p. 4546, doi. 10.1093/hmg/ddw282
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- Article
Prenylated retinal ciliopathy protein RPGR interacts with PDE6δ and regulates ciliary localization of Joubert syndrome-associated protein INPP5E.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 20, p. 4533, doi. 10.1093/hmg/ddw281
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- Article
Exploiting the CRISPR/Cas9 system to study alternative splicing in vivo: application to titin.
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- Human Molecular Genetics, 2016, v. 25, n. 20, p. 4518, doi. 10.1093/hmg/ddw280
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- Article
Impaired striatal dopamine release in homozygous Vps35 D620N knock-in mice.
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- Human Molecular Genetics, 2016, v. 25, n. 20, p. 4507, doi. 10.1093/hmg/ddw279
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- Article
Effect of genetic background on the phenotype of the Smn<sup>2B/-</sup> mouse model of spinal muscular atrophy.
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- Human Molecular Genetics, 2016, v. 25, n. 20, p. 4494, doi. 10.1093/hmg/ddw278
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- Article
Mutations in SDR9C7 gene encoding an enzyme for vitamin A metabolism underlie autosomal recessive congenital ichthyosis.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 20, p. 4484, doi. 10.1093/hmg/ddw277
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- Article
Reduced stress granule formation and cell death in fibroblasts with the A382T mutation of TARDBP gene: evidence for loss of TDP-43 nuclear function.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 20, p. 4473, doi. 10.1093/hmg/ddw276
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- Publication type:
- Article
HDAC inhibition in the cpfl1 mouse protects degenerating cone photoreceptors in vivo.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 20, p. 4462, doi. 10.1093/hmg/ddw275
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- Publication type:
- Article
Posterior cerebellar Purkinje cells in an SCA5/SPARCA1 mouse model are especially vulnerable to the synergistic effect of loss of β-III spectrin and GLAST.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 20, p. 4448, doi. 10.1093/hmg/ddw274
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- Publication type:
- Article
RpA1 ameliorates symptoms of mutant ataxin-1 knock-in mice and enhances DNA damage repair.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 20, p. 4432, doi. 10.1093/hmg/ddw272
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- Article
Model systems of DUX4 expression recapitulate the transcriptional profile of FSHD cells.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 20, p. 4419, doi. 10.1093/hmg/ddw271
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- Publication type:
- Article
Regulation of neuronal morphogenesis by 14-3-3epsilon (Ywhae) via the microtubule binding protein, doublecortin.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 20, p. 4405, doi. 10.1093/hmg/ddw270
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- Article
Exclusive expression of MeCP2 in the nervous system distinguishes between brain and peripheral Rett syndrome-like phenotypes.
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- Human Molecular Genetics, 2016, v. 25, n. 20, p. 4389, doi. 10.1093/hmg/ddw269
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- Article
Transcriptome analysis reveals rod/cone photoreceptor specific signatures across mammalian retinas.
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- Human Molecular Genetics, 2016, v. 25, n. 20, p. 4376, doi. 10.1093/hmg/ddw268
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- Article
Vitamin B12 ameliorates the phenotype of a mouse model of DiGeorge syndrome.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 20, p. 4369, doi. 10.1093/hmg/ddw267
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- Article