Works matching IS 09646906 AND DT 2019 AND VI 28
Results: 361
Colocalization of GWAS and eQTL signals at loci with multiple signals identifies additional candidate genes for body fat distribution.
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- Human Molecular Genetics, 2019, v. 28, n. 24, p. 4161, doi. 10.1093/hmg/ddz263
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Methylation changes in the peripheral blood of Filipinos with type 2 diabetes suggest spurious transcription initiation at TXNIP.
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- Human Molecular Genetics, 2019, v. 28, n. 24, p. 4208, doi. 10.1093/hmg/ddz262
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Splicing factor DHX15 affects tp53 and mdm2 expression via alternate splicing and promoter usage.
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- Human Molecular Genetics, 2019, v. 28, n. 24, p. 4173, doi. 10.1093/hmg/ddz261
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Insights into wild-type dynamin 2 and the consequences of DNM2 mutations from transgenic zebrafish.
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- Human Molecular Genetics, 2019, v. 28, n. 24, p. 4186, doi. 10.1093/hmg/ddz260
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Histone demethylase KDM5C is a SAHA-sensitive central hub at the crossroads of transcriptional axes involved in multiple neurodevelopmental disorders.
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- Human Molecular Genetics, 2019, v. 28, n. 24, p. 4089, doi. 10.1093/hmg/ddz254
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BRCA1 mislocalization leads to aberrant DNA damage response in heterozygous ABRAXAS1 mutation carrier cells.
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- Human Molecular Genetics, 2019, v. 28, n. 24, p. 4148, doi. 10.1093/hmg/ddz252
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Different in vivo impacts of dynamin 2 mutations implicated in Charcot–Marie–Tooth neuropathy or centronuclear myopathy.
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- Human Molecular Genetics, 2019, v. 28, n. 24, p. 4067, doi. 10.1093/hmg/ddz249
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PRCD is concentrated at the base of photoreceptor outer segments and is involved in outer segment disc formation.
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- Human Molecular Genetics, 2019, v. 28, n. 24, p. 4078, doi. 10.1093/hmg/ddz248
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The consequences of increased 4E-BP1 in polycystic kidney disease.
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- Human Molecular Genetics, 2019, v. 28, n. 24, p. 4132, doi. 10.1093/hmg/ddz244
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A genome-wide association study implicates multiple mechanisms influencing raised urinary albumin–creatinine ratio.
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- Human Molecular Genetics, 2019, v. 28, n. 24, p. 4197, doi. 10.1093/hmg/ddz243
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Elmod3 knockout leads to progressive hearing loss and abnormalities in cochlear hair cell stereocilia.
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- Human Molecular Genetics, 2019, v. 28, n. 24, p. 4103, doi. 10.1093/hmg/ddz240
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Long-term environmental impact on object recognition, spatial memory and reversal learning capabilities in Cacna1c-haploinsufficient rats.
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- Human Molecular Genetics, 2019, v. 28, n. 24, p. 4113, doi. 10.1093/hmg/ddz235
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ADAMTS9 and ADAMTS20 are differentially affected by loss of B3GLCT in mouse model of Peters plus syndrome.
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- Human Molecular Genetics, 2019, v. 28, n. 24, p. 4053, doi. 10.1093/hmg/ddz225
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Microtubule cytoskeleton regulates Connexin 43 localization and cardiac conduction in cardiomyopathy caused by mutation in A-type lamins gene.
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- Human Molecular Genetics, 2019, v. 28, n. 24, p. 4043, doi. 10.1093/hmg/ddy227
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Genome-wide association analysis of 350 000 Caucasians from the UK Biobank identifies novel loci for asthma, hay fever and eczema.
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- Human Molecular Genetics, 2019, v. 28, n. 23, p. 4022, doi. 10.1093/hmg/ddz175
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Curcumin dietary supplementation ameliorates disease phenotype in an animal model of Huntington's disease.
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- Human Molecular Genetics, 2019, v. 28, n. 23, p. 4012, doi. 10.1093/hmg/ddz247
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Physiological and pathological roles of LRRK2 in the nuclear envelope integrity.
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- Human Molecular Genetics, 2019, v. 28, n. 23, p. 3982, doi. 10.1093/hmg/ddz245
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Point of Care Exome Sequencing Reveals Allelic and Phenotypic Heterogeneity Underlying Mendelian disease in Qatar.
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- Human Molecular Genetics, 2019, v. 28, n. 23, p. 3970, doi. 10.1093/hmg/ddz134
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Model system identification of novel congenital heart disease gene candidates: focus on RPL13.
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- Human Molecular Genetics, 2019, v. 28, n. 23, p. 3954, doi. 10.1093/hmg/ddz213
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Smcr8 deficiency disrupts axonal transport-dependent lysosomal function and promotes axonal swellings and gain of toxicity in C9ALS/FTD mouse models.
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- Human Molecular Genetics, 2019, v. 28, n. 23, p. 3940, doi. 10.1093/hmg/ddz230
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Conditional targeting in mice reveals that hepatic homogentisate 1,2-dioxygenase activity is essential in reducing circulating homogentisic acid and for effective therapy in the genetic disease alkaptonuria.
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- Human Molecular Genetics, 2019, v. 28, n. 23, p. 3928, doi. 10.1093/hmg/ddz234
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Loss of the nucleoporin Aladin in central nervous system and fibroblasts of Allgrove Syndrome.
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- Human Molecular Genetics, 2019, v. 28, n. 23, p. 3921, doi. 10.1093/hmg/ddz236
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The variability of SMCHD1 gene in FSHD patients: evidence of new mutations.
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- Human Molecular Genetics, 2019, v. 28, n. 23, p. 3912, doi. 10.1093/hmg/ddz239
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Mutations in CHCHD2 cause α-synuclein aggregation.
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- Human Molecular Genetics, 2019, v. 28, n. 23, p. 3895, doi. 10.1093/hmg/ddz241
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Using human Pompe disease-induced pluripotent stem cell-derived neural cells to identify compounds with therapeutic potential.
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- Human Molecular Genetics, 2019, v. 28, n. 23, p. 3880, doi. 10.1093/hmg/ddz218
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Neonatal brain-directed gene therapy rescues a mouse model of neurodegenerative CLN6 Batten disease.
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- Human Molecular Genetics, 2019, v. 28, n. 23, p. 3867, doi. 10.1093/hmg/ddz210
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PAICS deficiency, a new defect of de novo purine synthesis resulting in multiple congenital anomalies and fatal outcome.
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- Human Molecular Genetics, 2019, v. 28, n. 22, p. 3805, doi. 10.1093/hmg/ddz237
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Imprinting effects of UBE3A loss on synaptic gene networks and Wnt signaling pathways.
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- Human Molecular Genetics, 2019, v. 28, n. 22, p. 3842, doi. 10.1093/hmg/ddz221
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Phenome-wide investigation of health outcomes associated with genetic predisposition to loneliness.
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- Human Molecular Genetics, 2019, v. 28, n. 22, p. 3853, doi. 10.1093/hmg/ddz219
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FUS-mediated dysregulation of Sema5a, an autism-related gene, in FUS mice with hippocampus-dependent cognitive deficits.
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- Human Molecular Genetics, 2019, v. 28, n. 22, p. 3777, doi. 10.1093/hmg/ddz217
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Functional assessment of variants associated with Wolfram syndrome.
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- Human Molecular Genetics, 2019, v. 28, n. 22, p. 3815, doi. 10.1093/hmg/ddz212
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Acute manganese treatment restores defective autophagic cargo loading in Huntington's disease cell lines.
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- Human Molecular Genetics, 2019, v. 28, n. 22, p. 3825, doi. 10.1093/hmg/ddz209
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Molecular genetic investigations identify new clinical phenotypes associated with BCS1L-related mitochondrial disease.
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- Human Molecular Genetics, 2019, v. 28, n. 22, p. 3766, doi. 10.1093/hmg/ddz202
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Somatic double-hit in MTOR and RPS6 in hemimegalencephaly with intractable epilepsy.
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- Human Molecular Genetics, 2019, v. 28, n. 22, p. 3755, doi. 10.1093/hmg/ddz194
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AAV9-Stathmin1 gene delivery improves disease phenotype in an intermediate mouse model of spinal muscular atrophy.
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- Human Molecular Genetics, 2019, v. 28, n. 22, p. 3742, doi. 10.1093/hmg/ddz188
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Disease modeling of core pre-mRNA splicing factor haploinsufficiency.
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- Human Molecular Genetics, 2019, v. 28, n. 22, p. 3704, doi. 10.1093/hmg/ddz169
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Atypical chromosome 22q11.2 deletions are complex rearrangements and have different mechanistic origins.
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- Human Molecular Genetics, 2019, v. 28, n. 22, p. 3724, doi. 10.1093/hmg/ddz166
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Strategies to prevent cleavage of the linker region between ligand-binding repeats 4 and 5 of the LDL receptor.
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- Human Molecular Genetics, 2019, v. 28, n. 22, p. 3734, doi. 10.1093/hmg/ddz164
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Deregulating mitochondrial metabolite and ion transport has beneficial effects in yeast and human cellular models for NARP syndrome.
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- Human Molecular Genetics, 2019, v. 28, n. 22, p. 3792, doi. 10.1093/hmg/ddz160
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Ibuprofen enhances synaptic function and neural progenitors proliferation markers and improves neuropathology and motor coordination in Machado–Joseph disease models.
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- Human Molecular Genetics, 2019, v. 28, n. 22, p. 3691, doi. 10.1093/hmg/ddz097
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Identification of genes involved in glaucoma pathogenesis using combined network analysis and empirical studies.
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- Human Molecular Genetics, 2019, v. 28, n. 21, p. 3637, doi. 10.1093/hmg/ddz222
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Intrathecal AAVrh10 corrects biochemical and histological hallmarks of mucopolysaccharidosis VII mice and improves behavior and survival.
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- Human Molecular Genetics, 2019, v. 28, n. 21, p. 3610, doi. 10.1093/hmg/ddz220
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Molecular mechanism for the multiple sclerosis risk variant rs17594362.
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- Human Molecular Genetics, 2019, v. 28, n. 21, p. 3600, doi. 10.1093/hmg/ddz216
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Aberrant mitochondrial function in patient-derived neural cells from CDKL5 deficiency disorder and Rett syndrome.
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- Human Molecular Genetics, 2019, v. 28, n. 21, p. 3625, doi. 10.1093/hmg/ddz208
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SNV identification from single-cell RNA sequencing data.
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- Human Molecular Genetics, 2019, v. 28, n. 21, p. 3569, doi. 10.1093/hmg/ddz207
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RAB8, RAB10 and RILPL1 contribute to both LRRK2 kinase–mediated centrosomal cohesion and ciliogenesis deficits.
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- Human Molecular Genetics, 2019, v. 28, n. 21, p. 3552, doi. 10.1093/hmg/ddz201
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A hypomorphic allele of SLC35D1 results in Schneckenbecken-like dysplasia.
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- Human Molecular Genetics, 2019, v. 28, n. 21, p. 3543, doi. 10.1093/hmg/ddz200
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Gene replacement therapy after neuropathy onset provides therapeutic benefit in a model of CMT1X.
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- Human Molecular Genetics, 2019, v. 28, n. 21, p. 3528, doi. 10.1093/hmg/ddz199
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Lamin A/C dysregulation contributes to cardiac pathology in a mouse model of severe spinal muscular atrophy.
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- Human Molecular Genetics, 2019, v. 28, n. 21, p. 3515, doi. 10.1093/hmg/ddz195
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Genome-wide association analysis of 95 549 individuals identifies novel loci and genes influencing optic disc morphology.
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- Human Molecular Genetics, 2019, v. 28, n. 21, p. 3680, doi. 10.1093/hmg/ddz193
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