Works matching IS 09646906 AND DT 2017 AND VI 26 AND IP 18
Results: 17
Identification of the molecular dysfunction caused by glutamate dehydrogenase S445L mutation responsible for hyperinsulinism/hyperammonemia.
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- Human Molecular Genetics, 2017, v. 26, n. 18, p. 3453, doi. 10.1093/hmg/ddx213
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- Article
HDAC6 deficiency or inhibition blocks FGFR3 accumulation and improves bone growth in a model of achondroplasia.
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- Human Molecular Genetics, 2017, v. 26, n. 18, p. 3651, doi. 10.1093/hmg/ddx272
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- Article
Trans-ethnic meta-regression of genome-wide association studies accounting for ancestry increases power for discovery and improves fine-mapping resolution.
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- Human Molecular Genetics, 2017, v. 26, n. 18, p. 3639, doi. 10.1093/hmg/ddx280
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- Article
Mutations of conserved non-coding elements of PITX2 in patients with ocular dysgenesis and developmental glaucoma.
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- Human Molecular Genetics, 2017, v. 26, n. 18, p. 3630, doi. 10.1093/hmg/ddx251
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- Article
Amyotrophic lateral sclerosis-related mutant superoxide dismutase 1 aggregates inhibit 14-3-3-mediated cell survival by sequestration into the JUNQ compartment.
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- Human Molecular Genetics, 2017, v. 26, n. 18, p. 3615, doi. 10.1093/hmg/ddx250
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- Article
A zebrafish model of X-linked adrenoleukodystrophy recapitulates key disease features and demonstrates a developmental requirement for abcd1 in oligodendrocyte patterning and myelination.
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- Human Molecular Genetics, 2017, v. 26, n. 18, p. 3600, doi. 10.1093/hmg/ddx249
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- Article
Gene expression profiling of puberty-associated genes reveals abundant tissue and sex-specific changes across postnatal development.
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- Human Molecular Genetics, 2017, v. 26, n. 18, p. 3585, doi. 10.1093/hmg/ddx246
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- Article
Pathogenicity of a novel missense variant associated with choroideremia and its impact on gene replacement therapy.
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- Human Molecular Genetics, 2017, v. 26, n. 18, p. 3573, doi. 10.1093/hmg/ddx244
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- Article
Circular RNA profiling reveals that circular RNAs from ANXA2 can be used as new biomarkers for multiple sclerosis.
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- Human Molecular Genetics, 2017, v. 26, n. 18, p. 3564, doi. 10.1093/hmg/ddx243
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- Article
BMP4 uses several different effector pathways to regulate proliferation and differentiation in the epithelial and mesenchymal tissue compartments of the developing mouse ureter.
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- Human Molecular Genetics, 2017, v. 26, n. 18, p. 3553, doi. 10.1093/hmg/ddx242
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- Article
Homozygous EEF1A2 mutation causes dilated cardiomyopathy, failure to thrive, global developmental delay, epilepsy and early death.
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- Human Molecular Genetics, 2017, v. 26, n. 18, p. 3545, doi. 10.1093/hmg/ddx239
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- Article
Enhanced vulnerability of human proteins towards disease-associated inactivation through divergent evolution.
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- Human Molecular Genetics, 2017, v. 26, n. 18, p. 3531, doi. 10.1093/hmg/ddx238
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- Article
The neurosteroid pregnenolone reverts microtubule derangement induced by the loss of a functional CDKL5-IQGAP1 complex.
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- Human Molecular Genetics, 2017, v. 26, n. 18, p. 3520, doi. 10.1093/hmg/ddx237
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- Article
Evolution of the sperm methylome of primates is associated with retrotransposon insertions and genome instability.
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- Human Molecular Genetics, 2017, v. 26, n. 18, p. 3508, doi. 10.1093/hmg/ddx236
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- Article
Age-dependent effects of Armc5 haploinsufficiency on adrenocortical function.
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 18, p. 3495, doi. 10.1093/hmg/ddx235
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- Publication type:
- Article
Rescue of peripheral vestibular function in Usher syndrome mice using a splice-switching antisense oligonucleotide.
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- Human Molecular Genetics, 2017, v. 26, n. 18, p. 3482, doi. 10.1093/hmg/ddx234
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- Publication type:
- Article
Loss of native α-synuclein multimerization by strategically mutating its amphipathic helix causes abnormal vesicle interactions in neuronal cells.
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 18, p. 3466, doi. 10.1093/hmg/ddx227
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- Article