Results 41 to 50 of about 4,716 (190)
Circadian Entrainment Triggers Maturation of Human In Vitro Islets
, 2020 Stem-cell-derived tissues could transform disease research and therapy, yet most methods generate functionally immature products. We investigate how human pluripotent stem cells (hPSCs) differentiate into pancreatic islets in vitro by profiling DNA ...
Alvarez-Dominguez, J. +8 more
core +1 more source
Nail-patella syndrome--a novel mutation in the LMX1B gene [PDF]
Clinical Kidney Journal, 2013 Nail-patella syndrome (NPS) is an autosomal-dominant pleiotropic disorder characterized by dyplasia of finger nails, skeletal anomalies and frequently renal disease. In the reported case, genetic analysis revealed a new missense mutation in the homeodomain of LMX1B, presumed to abolish DNA binding (c.725T>C, p.Val242Ala).
Nair, Rajesh R. +6 more
openaire +2 more sources
A novel small deletion of LMX1B in a large Chinese family with nail-patella syndrome
BMC Medical Genetics, 2019 Background Nail-patella syndrome (NPS) is an autosomal dominant developmental disorder most commonly characterized by dyplasia of nail or patella, the radial head or the humeral head hypoplasia, and, frequently ocular abnormalities and renal disease.
Xiaoyi Yan +6 more
doaj +1 more source
Lmx1b-targeted cis -regulatory modules involved in limb dorsalization [PDF]
Development, 2017 Lmx1b is a homeodomain transcription factor responsible for limb dorsalization. Despite striking double-ventral (loss-of-function) and double-dorsal (gain-of-function) limb phenotypes, no direct gene targets in the limb have been confirmed. To determine direct targets, we performed a chromatin immunoprecipitation against Lmx1b at E12.5 followed by next
Endika Haro +6 more
openaire +2 more sources
Lmx1b and FoxC Combinatorially Regulate Podocin Expression in Podocytes [PDF]
Journal of the American Society of Nephrology, 2014 Podocin is a key protein of the kidney podocyte slit diaphragm protein complex, an important part of the glomerular filtration barrier. Mutations in the human podocin gene NPHS2 cause familial or sporadic forms of renal disease owing to the disruption of filtration barrier integrity.
He, B +8 more
openaire +2 more sources
Gata2 and Gata3 regulate the differentiation of serotonergic and glutamatergic neuron subtypes of the dorsal raphe [PDF]
, 2016 Peer ...
Achim, Kaia +4 more
core +1 more source
PLoS Genetics, 2014 Mutations in the LIM-homeodomain transcription factor LMX1B cause nail-patella syndrome, an autosomal dominant pleiotrophic human disorder in which nail, patella and elbow dysplasia is associated with other skeletal abnormalities and variably nephropathy
Sally H Cross +17 more
doaj +1 more source
Mechanisms controlling midbrain dopaminergic neuron development [PDF]
, 2016 The degeneration of midbrain dopaminergic (mDA) neurons accounts for some of the main motor symptoms of Parkinson’s disease (PD). Efforts during the last decades have focused on understanding how mDA neurons are generated and maintained with the hope ...
Yang, Shanzheng
core +1 more source
Evidence for gliadin antibodies as causative agents in schizophrenia. [PDF]
, 2010 Antibodies to gliadin, a component of gluten, have frequently been reported in schizophrenia. Highly immunogenic B cell epitopes along its length are homologous to numerous proteins relevant to schizophrenia, including members of the DISC1 interactome ...
Chris J. Carter
core +2 more sources
Fine mapping of bone structure and strength QTLs in heterogeneous stock rat [PDF]
, 2015 We previously demonstrated that skeletal structure and strength phenotypes vary considerably in heterogeneous stock (HS) rats. These phenotypes were found to be strongly heritable, suggesting that the HS rat model represents a unique genetic resource for
Alam, Imranul +16 more
core +1 more source