Works matching IS 09646906 AND DT 2014 AND VI 23 AND IP 2
Results: 28
CHD7 and retinoic acid signaling cooperate to regulate neural stem cell and inner ear development in mouse models of CHARGE syndrome.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 2, p. 434, doi. 10.1093/hmg/ddt435
- By:
- Publication type:
- Article
Mid-stage intervention achieves similar efficacy as conventional early-stage treatment using gene therapy in a pre-clinical model of retinitis pigmentosa.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 2, p. 514, doi. 10.1093/hmg/ddt452
- By:
- Publication type:
- Article
Cover Page.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 2, p. NP, doi. 10.1093/hmg/ddt648
- Publication type:
- Article
Evidence for dysregulation of genome-wide recombination in oocytes with nondisjoined chromosomes 21.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 2, p. 408, doi. 10.1093/hmg/ddt433
- By:
- Publication type:
- Article
Chemical chaperone treatment reduces intracellular accumulation of mutant collagen IV and ameliorates the cellular phenotype of a COL4A2 mutation that causes haemorrhagic stroke.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 2, p. 283, doi. 10.1093/hmg/ddt418
- By:
- Publication type:
- Article
Minimally invasive transplantation of iPSC-derived ALDHhiSSCloVLA4+ neural stem cells effectively improves the phenotype of an amyotrophic lateral sclerosis model.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 2, p. 342, doi. 10.1093/hmg/ddt425
- By:
- Publication type:
- Article
A mutation in a ganglioside biosynthetic enzyme, ST3GAL5, results in salt & pepper syndrome, a neurocutaneous disorder with altered glycolipid and glycoprotein glycosylation.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 2, p. 418, doi. 10.1093/hmg/ddt434
- By:
- Publication type:
- Article
Evaluating the effects of CELF1 deficiency in a mouse model of RNA toxicity.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 2, p. 293, doi. 10.1093/hmg/ddt419
- By:
- Publication type:
- Article
Tumor-derived exosomes are enriched in ΔNp73, which promotes oncogenic potential in acceptor cells and correlates with patient survival.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 2, p. 467, doi. 10.1093/hmg/ddt437
- By:
- Publication type:
- Article
Rescue of behavioral and EEG deficits in male and female Mecp2-deficient mice by delayed Mecp2 gene reactivation.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 2, p. 303, doi. 10.1093/hmg/ddt421
- By:
- Publication type:
- Article
Variants in two adjacent genes, EGLN2 and CYP2A6, influence smoking behavior related to disease risk via different mechanisms.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 2, p. 555, doi. 10.1093/hmg/ddt432
- By:
- Publication type:
- Article
Three SNPs in chromosome 11q23.3 are independently associated with systemic lupus erythematosus in Asians.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 2, p. 524, doi. 10.1093/hmg/ddt424
- By:
- Publication type:
- Article
The familial dementia gene revisited: a missense mutation revealed by whole-exome sequencing identifies ITM2B as a candidate gene underlying a novel autosomal dominant retinal dystrophy in a large family.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 2, p. 491, doi. 10.1093/hmg/ddt439
- By:
- Publication type:
- Article
Education influences the association between genetic variants and refractive error: a meta-analysis of five Singapore studies.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 2, p. 546, doi. 10.1093/hmg/ddt431
- By:
- Publication type:
- Article
LIS1 controls mitosis and mitotic spindle organization via the LIS1–NDEL1–dynein complex.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 2, p. 449, doi. 10.1093/hmg/ddt436
- By:
- Publication type:
- Article
Editorial Board.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 2, p. NP, doi. 10.1093/hmg/ddt649
- Publication type:
- Article
Laminin-111 improves muscle repair in a mouse model of merosin-deficient congenital muscular dystrophy.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 2, p. 383, doi. 10.1093/hmg/ddt428
- By:
- Publication type:
- Article
Contents Page.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 2, p. NP, doi. 10.1093/hmg/ddt650
- Publication type:
- Article
A novel estrogen receptor-microRNA 190a-PAR-1-pathway regulates breast cancer progression, a finding initially suggested by genome-wide analysis of loci associated with lymph-node metastasis.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 2, p. 355, doi. 10.1093/hmg/ddt426
- By:
- Publication type:
- Article
BSCL2/seipin regulates adipogenesis through actin cytoskeleton remodelling.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 2, p. 502, doi. 10.1093/hmg/ddt444
- By:
- Publication type:
- Article
Epigenetics meets metabolomics: an epigenome-wide association study with blood serum metabolic traits.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 2, p. 534, doi. 10.1093/hmg/ddt430
- By:
- Publication type:
- Article
Small RNAs derived from lncRNA RNase MRP have gene-silencing activity relevant to human cartilage–hair hypoplasia.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 2, p. 368, doi. 10.1093/hmg/ddt427
- By:
- Publication type:
- Article
Subscription Page.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 2, p. NP, doi. 10.1093/hmg/ddt651
- Publication type:
- Article
HNRNPA1 regulates HMGCR alternative splicing and modulates cellular cholesterol metabolism.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 2, p. 319, doi. 10.1093/hmg/ddt422
- By:
- Publication type:
- Article
Wt1 functions in ovarian follicle development by regulating granulosa cell differentiation.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 2, p. 333, doi. 10.1093/hmg/ddt423
- By:
- Publication type:
- Article
Extensive transcriptional complexity during hypoxia-regulated expression of the myoglobin gene in cancer.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 2, p. 479, doi. 10.1093/hmg/ddt438
- By:
- Publication type:
- Article
Multilineage somatic activating mutations in HRAS and NRAS cause mosaic cutaneous and skeletal lesions, elevated FGF23 and hypophosphatemia.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 2, p. 397, doi. 10.1093/hmg/ddt429
- By:
- Publication type:
- Article
A pathway-based analysis provides additional support for an immune-related genetic susceptibility to Parkinson's disease.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 2, p. 562
- By:
- Publication type:
- Article