Works matching IS 09646906 AND DT 2019 AND VI 28 AND IP 19
Results: 16
LMO2 gene deletions significantly worsen the prognosis of Wilms' tumor development in patients with WAGR syndrome.
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- Human Molecular Genetics, 2019, v. 28, n. 19, p. 3323, doi. 10.1093/hmg/ddz168
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- Article
Established PABPN1 intranuclear inclusions in OPMD muscle can be efficiently reversed by AAV-mediated knockdown and replacement of mutant expanded PABPN1.
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- Human Molecular Genetics, 2019, v. 28, n. 19, p. 3301, doi. 10.1093/hmg/ddz167
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- Article
Loss of Cln5 leads to altered Gad1 expression and deficits in interneuron development in mice.
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- Human Molecular Genetics, 2019, v. 28, n. 19, p. 3309, doi. 10.1093/hmg/ddz165
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- Article
A trans-ancestral meta-analysis of genome-wide association studies reveals loci associated with childhood obesity.
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- Human Molecular Genetics, 2019, v. 28, n. 19, p. 3327, doi. 10.1093/hmg/ddz161
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- Article
Loss of FLCN inhibits canonical WNT signaling via TFE3.
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- Human Molecular Genetics, 2019, v. 28, n. 19, p. 3270, doi. 10.1093/hmg/ddz158
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- Article
Integrating Mendelian randomization and multiple-trait colocalization to uncover cell-specific inflammatory drivers of autoimmune and atopic disease.
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- Human Molecular Genetics, 2019, v. 28, n. 19, p. 3293, doi. 10.1093/hmg/ddz155
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- Article
G-quadruplex-mediated reduction of a pathogenic mitochondrial heteroplasmy.
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- Human Molecular Genetics, 2019, v. 28, n. 19, p. 3163, doi. 10.1093/hmg/ddz153
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- Article
Combining P301L and S320F tau variants produces a novel accelerated model of tauopathy.
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- Human Molecular Genetics, 2019, v. 28, n. 19, p. 3255, doi. 10.1093/hmg/ddz151
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- Article
Motor neuron loss in SMA is not associated with somal stress-activated JNK/c-Jun signaling.
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- Human Molecular Genetics, 2019, v. 28, n. 19, p. 3282, doi. 10.1093/hmg/ddz150
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- Article
A mutation inactivating the distal SF1 binding site on the human anti-Müllerian hormone promoter causes persistent Müllerian duct syndrome.
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- Human Molecular Genetics, 2019, v. 28, n. 19, p. 3211, doi. 10.1093/hmg/ddz147
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- Article
YWHAE long non-coding RNA competes with miR-323a-3p and miR-532-5p through activating K-Ras/Erk1/2 and PI3K/Akt signaling pathways in HCT116 cells.
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- Human Molecular Genetics, 2019, v. 28, n. 19, p. 3219, doi. 10.1093/hmg/ddz146
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- Article
Transcription of PIK3CD in human brain and schizophrenia: regulation by proinflammatory cytokines.
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- Human Molecular Genetics, 2019, v. 28, n. 19, p. 3188, doi. 10.1093/hmg/ddz144
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- Publication type:
- Article
AAV9-mediated delivery of miR-23a reduces disease severity in Smn<sup>2B/−</sup>SMA model mice.
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- Human Molecular Genetics, 2019, v. 28, n. 19, p. 3199, doi. 10.1093/hmg/ddz142
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- Article
Functionalization of the TMEM175 p.M393T variant as a risk factor for Parkinson disease.
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- Human Molecular Genetics, 2019, v. 28, n. 19, p. 3244, doi. 10.1093/hmg/ddz136
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- Article
Mitochondrial clearance and maturation of autophagosomes are compromised in LRRK2 G2019S familial Parkinson's disease patient fibroblasts.
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- Human Molecular Genetics, 2019, v. 28, n. 19, p. 3232, doi. 10.1093/hmg/ddz126
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- Article
Overexpression of the Cdk5 inhibitory peptide in motor neurons rescue of amyotrophic lateral sclerosis phenotype in a mouse model.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 19, p. 3175, doi. 10.1093/hmg/ddz118
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- Article