Results 31 to 40 of about 4,807 (209)
LMX1B transactivation and expression in nail-patella syndrome [PDF]
Human Molecular Genetics, 2000 Lmx1b, a member of the LIM homeodomain protein family, is essential for the specification of dorsal limb fates at the zeugopodal and autopodal level in vertebrates. We and others have shown that a skeletal dysplasia, nail-patella syndrome (NPS), results from mutations in LMX1B.
S D, Dreyer +8 more
openaire +2 more sources
Neurochemical characterization of pERK-expressing spinal neurons in histamine-induced itch [PDF]
, 2015 Date of Acceptance: 08/07/2015 Acknowledgements This work was supported by grants from the Ministry of Science and Technology of China (2012CB966904, 2011CB51005), National Natural Science Foundation of China (31271182, 81200692, 91232724, 81200933 ...
Chai, Guo-Dong +11 more
core +1 more source
The FASEB Journal, 2006 The tetrapod limb develops asymmetrically along several axes. Lmx1b is responsible for dorsalization of the distal limb; knockout (KO) mice show ventral‐ventral limb patterning and reduction of the scapula, a dorsal structure of the limb girdle. However, the mechanism and downstream targets of Lmx1b are still unknown.
Charmaine Pira +2 more
openaire +1 more source
Frontiers in Pediatrics, 2021 Nail-patella syndrome (NPS) is a rare autosomal-dominant disorder characterized by the classic tetrad of absent or hypoplastic finger and toe nails, absent or hypoplastic patella, skeletal deformities involving the elbow joints, and iliac horns.
Ling Hou +4 more
doaj +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 Case Report of Nail-Patella Syndrome
罕见病研究, 2023 Nail-patella syndrome (NPS) is a hereditary rare disease that can involve fingernail, patella, elbow, and iliac bones. In this article, we report a case of a girl-9 and 1 quarter years old who had asthmatic contractures in both elbows, thumbnail ...
CHEN Dan +3 more
doaj +1 more source
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
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
Frontiers in Genetics, 2021 Objective: Recent studies have demonstrated an association of single nucleotide polymorphisms (SNPs) rs35934224 in TXNRD2 and rs6478746 near LMX1B genes in primary open-angle glaucoma (POAG) among Europeans.
Altaf A. Kondkar +11 more
doaj +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