Works matching IS 09646906 AND DT 2017 AND VI 26
Results: 445
The FUT2 secretor variant p.Trp154Ter influences serum vitamin B12 concentration via holo-haptocorrin, but not holo-transcobalamin, and is associated with haptocorrin glycosylation.
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 24, p. 4975, doi. 10.1093/hmg/ddx369
- By:
- Publication type:
- Article
Potentiation of excitatory synaptic transmission ameliorates aggression in mice with Stxbp1 haploinsufficiency.
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 24, p. 4961, doi. 10.1093/hmg/ddx379
- By:
- Publication type:
- Article
Thrombospondin-1 and disease progression in dysferlinopathy.
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 24, p. 4951, doi. 10.1093/hmg/ddx378
- By:
- Publication type:
- Article
Biallelic mutations in the ferredoxin reductase gene cause novel mitochondriopathy with optic atrophy.
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 24, p. 4937, doi. 10.1093/hmg/ddx377
- By:
- Publication type:
- Article
Rescue of cell death and inflammation of a mouse model of complex 1-mediated vision loss by repurposed drug molecules.
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 24, p. 4929, doi. 10.1093/hmg/ddx373
- By:
- Publication type:
- Article
Nuclear localized C9orf72-associated argininecontaining dipeptides exhibit age-dependent toxicity in C. elegans.
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 24, p. 4916, doi. 10.1093/hmg/ddx372
- By:
- Publication type:
- Article
Comparison of the in vivo induction and transmission of α-synuclein pathology by mutant α-synuclein fibril seeds in transgenic mice.
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 24, p. 4906, doi. 10.1093/hmg/ddx371
- By:
- Publication type:
- Article
The role of the ER stress-response protein PERK in rhodopsin retinitis pigmentosa.
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 24, p. 4896, doi. 10.1093/hmg/ddx370
- By:
- Publication type:
- Article
Rare germline variants in known melanoma susceptibility genes in familial melanoma.
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 24, p. 4886, doi. 10.1093/hmg/ddx368
- By:
- Publication type:
- Article
Mutation-specific downregulation of CFTR2 variants by gating potentiators.
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 24, p. 4873, doi. 10.1093/hmg/ddx367
- By:
- Publication type:
- Article
Progranulin-mediated deficiency of cathepsin D results in FTD and NCL-like phenotypes in neurons derived from FTD patients.
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 24, p. 4861, doi. 10.1093/hmg/ddx364
- By:
- Publication type:
- Article
De novo, deleterious sequence variants that alter the transcriptional activity of the homeoprotein PBX1 are associated with intellectual disability and pleiotropic developmental defects.
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 24, p. 4849, doi. 10.1093/hmg/ddx363
- By:
- Publication type:
- Article
Copb2 is essential for embryogenesis and hypomorphic mutations cause human microcephaly.
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 24, p. 4836, doi. 10.1093/hmg/ddx362
- By:
- Publication type:
- Article
Genetic reduction of Nrf2 exacerbates cognitive deficits in a mouse model of Alzheimer's disease.
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 24, p. 4823, doi. 10.1093/hmg/ddx361
- By:
- Publication type:
- Article
FBN1 mutations largely contribute to sporadic non-syndromic aortic dissection.
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 24, p. 4814, doi. 10.1093/hmg/ddx360
- By:
- Publication type:
- Article
Myosin storage myopathy mutations yield defective myosin filament assembly in vitro and disrupted myofibrillar structure and function in vivo.
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 24, p. 4799, doi. 10.1093/hmg/ddx359
- By:
- Publication type:
- Article
Tacrolimus rescues the signaling and gene expression signature of endothelial ALK1 loss-of-function and improves HHT vascular pathology.
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 24, p. 4786, doi. 10.1093/hmg/ddx358
- By:
- Publication type:
- Article
Suppression of leptin signaling reduces polyglucosan inclusions and seizure susceptibility in a mouse model for Lafora disease.
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 24, p. 4778, doi. 10.1093/hmg/ddx357
- By:
- Publication type:
- Article
C9orf72 poly GA RAN-translated protein plays a key role in amyotrophic lateral sclerosis via aggregation and toxicity.
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 24, p. 4765, doi. 10.1093/hmg/ddx350
- By:
- Publication type:
- Article
Increased steroidogenesis promotes early-onset and severe vision loss in females with OPA1 dominant optic atrophy.
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 23, p. 4764, doi. 10.1093/hmg/ddx376
- Publication type:
- Article
Discovery of susceptibility loci associated with tuberculosis in Han Chinese.
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 23, p. 4752, doi. 10.1093/hmg/ddx365
- By:
- Publication type:
- Article
A mutation in IFT43 causes non-syndromic recessive retinal degeneration.
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 23, p. 4741, doi. 10.1093/hmg/ddx356
- By:
- Publication type:
- Article
Neurodevelopmental disease-associated de novo mutations and rare sequence variants affect TRIO GDP/GTP exchange factor activity.
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 23, p. 4728, doi. 10.1093/hmg/ddx355
- By:
- Publication type:
- Article
Activated Braf induces esophageal dilation and gastric epithelial hyperplasia in mice.
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 23, p. 4715, doi. 10.1093/hmg/ddx354
- By:
- Publication type:
- Article
A novel SYN1 missense mutation in non-syndromic X-linked intellectual disability affects synaptic vesicle life cycle, clustering and mobility.
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 23, p. 4699, doi. 10.1093/hmg/ddx352
- By:
- Publication type:
- Article
Trichothiodystrophy causative TFIIEβ mutation affects transcription in highly differentiated tissue.
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 23, p. 4689, doi. 10.1093/hmg/ddx351
- By:
- Publication type:
- Article
A constitutive BCL2 down-regulation aggravates the phenotype of PKD1-mutant-induced polycystic kidney disease.
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 23, p. 4680, doi. 10.1093/hmg/ddx349
- By:
- Publication type:
- Article
Amyotrophic lateral sclerosis-associated mutant SOD1 inhibits anterograde axonal transport of mitochondria by reducing Miro1 levels.
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 23, p. 4668, doi. 10.1093/hmg/ddx348
- By:
- Publication type:
- Article
A human patient-derived cellular model of Joubert syndrome reveals ciliary defects which can be rescued with targeted therapies.
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 23, p. 4657, doi. 10.1093/hmg/ddx347
- By:
- Publication type:
- Article
Pyroglutamate-amyloid-β peptide expression in Drosophila leads to caspase-dependent and endoplasmic reticulum stress-related progressive neurodegeneration.
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 23, p. 4642, doi. 10.1093/hmg/ddx346
- By:
- Publication type:
- Article
Heterozygous loss of TSC2 alters p53 signaling and human stem cell reprogramming.
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 23, p. 4629, doi. 10.1093/hmg/ddx345
- By:
- Publication type:
- Article
The mitochondrial metallochaperone SCO1 maintains CTR1 at the plasma membrane to preserve copper homeostasis in the murine heart.
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 23, p. 4617, doi. 10.1093/hmg/ddx344
- By:
- Publication type:
- Article
Loss of the imprinted, non-coding Snord116 gene cluster in the interval deleted in the Prader Willi syndrome results in murine neuronal and endocrine pancreatic developmental phenotypes.
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 23, p. 4606, doi. 10.1093/hmg/ddx342
- By:
- Publication type:
- Article
Low-dose rapamycin extends lifespan in a mouse model of mtDNA depletion syndrome.
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 23, p. 4588, doi. 10.1093/hmg/ddx341
- By:
- Publication type:
- Article
Activating the unfolded protein response in osteocytes causes hyperostosis consistent with craniodiaphyseal dysplasia.
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 23, p. 4572, doi. 10.1093/hmg/ddx339
- By:
- Publication type:
- Article
GLI1 inactivation is associated with developmental phenotypes overlapping with Ellis-van Creveld syndrome.
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 23, p. 4556, doi. 10.1093/hmg/ddx335
- By:
- Publication type:
- Article
In vitro characterization of mitochondrial function and structure in rat and human cells with a deficiency of the NADH: ubiquinone oxidoreductase Ndufc2 subunit.
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 23, p. 4541, doi. 10.1093/hmg/ddx333
- By:
- Publication type:
- Article
Vitamin B12 ameliorates the phenotype of a mouse model of DiGeorge syndrome.
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 22, p. 4540, doi. 10.1093/hmg/ddx353
- Publication type:
- Article
Modeling prior information of common genetic variants improves gene discovery for neuroticism.
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 22, p. 4530, doi. 10.1093/hmg/ddx340
- By:
- Publication type:
- Article
Pseudoexfoliation and Alzheimer's associated CLU risk variant, rs2279590, lies within an enhancer element and regulates CLU, EPHX2 and PTK2B gene expression.
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 22, p. 4519, doi. 10.1093/hmg/ddx329
- By:
- Publication type:
- Article
TUBB4A mutations result in specific neuronal and oligodendrocytic defects that closely match clinically distinct phenotypes.
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 22, p. 4506, doi. 10.1093/hmg/ddx338
- By:
- Publication type:
- Article
LRRK2 interacts with ATM and regulates Mdm2-p53 cell proliferation axis in response to genotoxic stress.
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 22, p. 4495, doi. 10.1093/hmg/ddx337
- By:
- Publication type:
- Article
SETD6 dominant negative mutation in familial colorectal cancer type X.
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 22, p. 4481, doi. 10.1093/hmg/ddx336
- By:
- Publication type:
- Article
The integrity and organization of the human AIPL1 functional domains is critical for its role as a HSP90-dependent co-chaperone for rod PDE6.
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 22, p. 4465, doi. 10.1093/hmg/ddx334
- By:
- Publication type:
- Article
Peptides of the variable IgG domain as potential biomarker candidates in primary open-angle glaucoma (POAG).
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 22, p. 4451, doi. 10.1093/hmg/ddx332
- By:
- Publication type:
- Article
Alpha-synuclein induces the unfolded protein response in Parkinson's disease SNCA triplication iPSC-derived neurons.
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 22, p. 4441, doi. 10.1093/hmg/ddx331
- By:
- Publication type:
- Article
PLK1-mediated phosphorylation of WDR62/MCPH2 ensures proper mitotic spindle orientation.
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 22, p. 4429, doi. 10.1093/hmg/ddx330
- By:
- Publication type:
- Article
FOXOs modulate proteasome activity in human-induced pluripotent stem cells of Huntington's disease and their derived neural cells.
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 22, p. 4416, doi. 10.1093/hmg/ddx327
- By:
- Publication type:
- Article
A pathogenic S250F missense mutation results in a mouse model of mild aromatic L-amino acid decarboxylase (AADC) deficiency.
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 22, p. 4406, doi. 10.1093/hmg/ddx326
- By:
- Publication type:
- Article
Liver-directed gene therapy for murine glycogen storage disease type Ib.
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 22, p. 4395, doi. 10.1093/hmg/ddx325
- By:
- Publication type:
- Article