Prader–Willi locus Snord116 RNA processing requires an active endogenous allele and neuron-specific splicing by Rbfox3/NeuN.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 23, p. 4051, doi. 10.1093/hmg/ddy296
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- Publication type:
- Article
Works matching IS 09646906 AND DT 2018 AND VI 27 AND IP 23
Results: 13
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A patient-derived iPSC model revealed oxidative stress increases facioscapulohumeral muscular dystrophy-causative DUX4.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 23, p. 4024, doi. 10.1093/hmg/ddy293
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- Publication type:
- Article
3
SP140 regulates the expression of immune-related genes associated with multiple sclerosis and other autoimmune diseases by NF-κB inhibition.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 23, p. 4012, doi. 10.1093/hmg/ddy284
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- Publication type:
- Article
4
A severe mouse model of spinal muscular atrophy develops early systemic inflammation.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 23, p. 4061, doi. 10.1093/hmg/ddy300
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- Publication type:
- Article
5
Sarcolipin deletion in mdx mice impairs calcineurin signalling and worsens dystrophic pathology.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 23, p. 4094, doi. 10.1093/hmg/ddy302
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- Publication type:
- Article
6
Whole-exome sequencing revealed HKDC1 as a candidate gene associated with autosomal-recessive retinitis pigmentosa.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 23, p. 4157, doi. 10.1093/hmg/ddy281
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- Publication type:
- Article
7
Mutations of the mitochondrial carrier translocase channel subunit TIM22 cause early-onset mitochondrial myopathy.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 23, p. 4135, doi. 10.1093/hmg/ddy305
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- Publication type:
- Article
8
MeCP2 isoform e1 mutant mice recapitulate motor and metabolic phenotypes of Rett syndrome.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 23, p. 4077, doi. 10.1093/hmg/ddy301
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- Publication type:
- Article
9
Mechanism suppressing H3K9 trimethylation in pluripotent stem cells and its demise by polyQ-expanded huntingtin mutations.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 23, p. 4117, doi. 10.1093/hmg/ddy304
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- Publication type:
- Article
10
Loss of hierarchical imprinting regulation at the Prader–Willi/Angelman syndrome locus in human iPSCs.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 23, p. 3999, doi. 10.1093/hmg/ddy274
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- Publication type:
- Article
11
Hypermorphic and hypomorphic AARS alleles in patients with CMT2N expand clinical and molecular heterogeneities.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 23, p. 4036, doi. 10.1093/hmg/ddy290
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- Publication type:
- Article
12
FUS-induced neurotoxicity in Drosophila is prevented by downregulating nucleocytoplasmic transport proteins.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 23, p. 4103, doi. 10.1093/hmg/ddy303
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- Publication type:
- Article
13
Combining common genetic variants and non-genetic risk factors to predict risk of cutaneous melanoma.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 23, p. 4145, doi. 10.1093/hmg/ddy282
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- Publication type:
- Article