Works matching IS 09646906 AND DT 2014 AND VI 23 AND IP 14
Results: 29
Statistical insights into major human muscular diseases.
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- Human Molecular Genetics, 2014, v. 23, n. 14, p. 3772, doi. 10.1093/hmg/ddu090
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Neuronal Tsc1/2 complex controls autophagy through AMPK-dependent regulation of ULK1.
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- Human Molecular Genetics, 2014, v. 23, n. 14, p. 3865, doi. 10.1093/hmg/ddu101
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CtIP mediates replication fork recovery in a FANCD2-regulated manner.
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- Human Molecular Genetics, 2014, v. 23, n. 14, p. 3695, doi. 10.1093/hmg/ddu078
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The ALS gene FUS regulates synaptic transmission at the Drosophila neuromuscular junction.
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- Human Molecular Genetics, 2014, v. 23, n. 14, p. 3810, doi. 10.1093/hmg/ddu094
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Methylene blue upregulates Nrf2/ARE genes and prevents tau-related neurotoxicity.
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- Human Molecular Genetics, 2014, v. 23, n. 14, p. 3716, doi. 10.1093/hmg/ddu080
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A piggyBac insertion disrupts Foxl2 expression that mimics BPES syndrome in mice.
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- Human Molecular Genetics, 2014, v. 23, n. 14, p. 3792, doi. 10.1093/hmg/ddu092
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- Article
DLX5, FGF8 and the Pin1 isomerase control ΔNp63α protein stability during limb development: a regulatory loop at the basis of the SHFM and EEC congenital malformations.
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- Human Molecular Genetics, 2014, v. 23, n. 14, p. 3830, doi. 10.1093/hmg/ddu096
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- Article
Evaluation of genome-wide loci of iron metabolism in hereditary hemochromatosis identifies PCSK7 as a host risk factor of liver cirrhosis.
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- Human Molecular Genetics, 2014, v. 23, n. 14, p. 3883, doi. 10.1093/hmg/ddu076
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Genetic instability in lymphoblastoid cell lines expressing biallelic and monoallelic variants in the human MUTYH gene.
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- Human Molecular Genetics, 2014, v. 23, n. 14, p. 3843, doi. 10.1093/hmg/ddu097
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Histone deacetylase 3 modulates Tbx5 activity to regulate early cardiogenesis.
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- Human Molecular Genetics, 2014, v. 23, n. 14, p. 3801, doi. 10.1093/hmg/ddu093
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Contents Page.
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- Human Molecular Genetics, 2014, v. 23, n. 14, p. NP, doi. 10.1093/hmg/ddu324
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- Article
Respiratory failure, cleft palate and epilepsy in the mouse model of human Xq22.1 deletion syndrome.
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- Human Molecular Genetics, 2014, v. 23, n. 14, p. 3823, doi. 10.1093/hmg/ddu095
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Cover Page.
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- Human Molecular Genetics, 2014, v. 23, n. 14, p. NP, doi. 10.1093/hmg/ddu325
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- Article
Mutations in the FOG2/ZFPM2 gene are associated with anomalies of human testis determination.
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- Human Molecular Genetics, 2014, v. 23, n. 14, p. 3657, doi. 10.1093/hmg/ddu074
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Analysis of non-synonymous-coding variants of Parkinson's disease-related pathogenic and susceptibility genes in East Asian populations.
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- Human Molecular Genetics, 2014, v. 23, n. 14, p. 3891, doi. 10.1093/hmg/ddu086
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- Article
Aberrant cell cycle reentry in human and experimental inclusion body myositis and polymyositis.
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- Human Molecular Genetics, 2014, v. 23, n. 14, p. 3681, doi. 10.1093/hmg/ddu077
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- Article
Induced pluripotent stem cells as a model for telomeric abnormalities in ICF type I syndrome.
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- Human Molecular Genetics, 2014, v. 23, n. 14, p. 3629, doi. 10.1093/hmg/ddu071
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- Article
CRB2 acts as a modifying factor of CRB1-related retinal dystrophies in mice.
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- Human Molecular Genetics, 2014, v. 23, n. 14, p. 3759, doi. 10.1093/hmg/ddu089
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- Article
Unveiling the degradative route of the V247M α-sarcoglycan mutant responsible for LGMD-2D.
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- Human Molecular Genetics, 2014, v. 23, n. 14, p. 3746, doi. 10.1093/hmg/ddu088
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Forced expression of DNA methyltransferases during oocyte growth accelerates the establishment of methylation imprints but not functional genomic imprinting.
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- Human Molecular Genetics, 2014, v. 23, n. 14, p. 3853, doi. 10.1093/hmg/ddu100
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Contesting the dogma of an age-related heat shock response impairment: implications for cardiac-specific age-related disorders.
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- Human Molecular Genetics, 2014, v. 23, n. 14, p. 3641, doi. 10.1093/hmg/ddu073
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Estimating the heritability of colorectal cancer.
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- Human Molecular Genetics, 2014, v. 23, n. 14, p. 3898, doi. 10.1093/hmg/ddu087
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- Article
β-III spectrin underpins ankyrin R function in Purkinje cell dendritic trees: protein complex critical for sodium channel activity is impaired by SCA5-associated mutations.
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- Human Molecular Genetics, 2014, v. 23, n. 14, p. 3875, doi. 10.1093/hmg/ddu103
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Subscription Page.
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- Human Molecular Genetics, 2014, v. 23, n. 14, p. NP, doi. 10.1093/hmg/ddu327
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- Article
Rbm20-deficient cardiogenesis reveals early disruption of RNA processing and sarcomere remodeling establishing a developmental etiology for dilated cardiomyopathy.
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- Human Molecular Genetics, 2014, v. 23, n. 14, p. 3779, doi. 10.1093/hmg/ddu091
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Comprehensive annotation of splice junctions supports pervasive alternative splicing at the BRCA1 locus: a report from the ENIGMA consortium.
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- Human Molecular Genetics, 2014, v. 23, n. 14, p. 3666
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Enhanced Ca2+ influx from STIM1–Orai1 induces muscle pathology in mouse models of muscular dystrophy.
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- Human Molecular Genetics, 2014, v. 23, n. 14, p. 3706, doi. 10.1093/hmg/ddu079
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The histone deacetylase HDAC3 is essential for Purkinje cell function, potentially complicating the use of HDAC inhibitors in SCA1.
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- Human Molecular Genetics, 2014, v. 23, n. 14, p. 3733, doi. 10.1093/hmg/ddu081
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Editorial Board.
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- Human Molecular Genetics, 2014, v. 23, n. 14, p. NP, doi. 10.1093/hmg/ddu326
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- Article