Results 41 to 50 of about 4,772 (187)

Lack of Association Between Polymorphisms in TXNRD2 and LMX1B and Primary Open-Angle Glaucoma in a Saudi Cohort

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, Altaf A. Kondkar, Altaf A. Kondkar, Taif A. Azad, Abdullah S. Alobaidan, Tahira Sultan, Essam A. Osman, Faisal A. Almobarak, Faisal A. Almobarak, Glenn P. Lobo, Saleh A. Al-Obeidan, Saleh A. Al-Obeidan   +11 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., Unni, Vavullipathy N., Indu, Kadevalappil N., Nampoothiri, Sheela, Mathew, Anil, Kurian, George, Vimala, Avadaiammal   +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, Jie Lin, Yifan Wang, Junli Xuan, Ping Yu, Tingwei Guo, Fan Jin   +6 more
doaj   +1 more source

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., Charlton, J., Donaghey, J., Helman, A., Kenty, J., Meissner, A., Melton, D., Rasouli, N., Straubhaar, J.   +8 more
core   +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, Billy A. Watson, Jennifer M. Feenstra, Luke Tegeler, Charmaine U. Pira, Subburaman Mohan, Kerby C. Oberg   +6 more
openaire   +2 more sources

The aetiology of idiopathic Parkinson's disease [PDF]

, 2001
Agents potentially involved in the aetiology of idiopathic Parkinson's disease are discussed. These include factors regulating dopaminergic neurogenesis (Nurr 1, Ptx-3, and Lmx1b) and related proteins, together with genes involved in familial Parkinson's
Ho, SL, Parsons, RB, Ramsden, DB, Waring, RH   +3 more
core   +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, Ebarasi, L, Zhao, Z, Guo, J, Ojala, JR, Hultenby, K, De Val, S, Betsholtz, C, Tryggvason, K   +8 more
openaire   +2 more sources

Genomic Analysis Identifies Risk Factors in Restless Legs Syndrome. [PDF]

Ann Neurol
Objective Restless legs syndrome (RLS) is a neurological condition that causes uncomfortable sensations in the legs and an irresistible urge to move them, typically during periods of rest. The genetic basis and pathophysiology of RLS are incompletely understood.
Akçimen F, Chia R, Saez-Atienzar S, Ruffo P, Rasheed M, Ross JP, Liao C, Ray A, Dion PA, Scholz SW, Rouleau GA, Traynor BJ.   +11 more
europepmc   +2 more sources

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

Gata2 and Gata3 regulate the differentiation of serotonergic and glutamatergic neuron subtypes of the dorsal raphe [PDF]

, 2016
Peer ...
Achim, Kaia, Haugas, Maarja, Partanen, Juha Matti, Salminen, Marjo Hannele, Tikker, Laura   +4 more
core   +1 more source