Results 41 to 50 of about 3,237 (188)

Analysis of different mutations in the transcription factor LMX1B leading to nail-patella syndrome [PDF]

, 2022
Nail-patella syndrome (NPS) is an autosomal-dominant genetic disorder characterized by malformed fingernails and hypoplastic or completely absent kneecaps.
Lucke, Lisa
core   +1 more source

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

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

Charakterisierung induzierbarer, podozytenspezifischer Lmx1b Knock-out Mäuse [PDF]

, 2014
Das Nagel-Patella Syndrom (NPS) zeigt eine Inzidenz von etwa 1:50.000 und ist durch Nagel-, Knie-, Ellbogen- und Hüftfehlbildungen sowie durch eine Nieren- und Augenbeteiligung gekennzeichnet (Sweeney E et al., 2003).
Schaffer, Magdalena Emma
core   +1 more source

A dominant-negative mutation of mouse Lmx1b causes glaucoma and is semi-lethal via LDB1-mediated dimerization [corrected].

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, Danilo G Macalinao, Lisa McKie, Lorraine Rose, Alison L Kearney, Joe Rainger, Caroline Thaung, Margaret Keighren, Shalini Jadeja, Katrine West, Stephen C Kneeland, Richard S Smith, Gareth R Howell, Fiona Young, Morag Robertson, Rob van T' Hof, Simon W M John, Ian J Jackson   +17 more
doaj   +1 more source

LMX1B-associated nephropathy that showed myelin figures on electron microscopy [PDF]

CEN Case Reports, 2021
The mutation of LIM homeodomain transcription factor LMX1B gene leads to nail-patella syndrome (NPS), which is characterized by dysplastic nails, hypoplastic patellae, iliac horns and nephropathy. The characteristic renal histological finding of NPS nephropathy is irregular thickening of the glomerular basement membrane with patchy lucent areas ...
Homare Shimohata, Yusuke Miyake, Yu Yoshida, Joichi Usui, Takayasu Mori, Eisei Sohara, Shinichi Uchida, Kouichi Hirayama, Masaki Kobayashi   +8 more
openaire   +2 more sources

Mechanism of Lmx1b-regulated Limb Dorsalization [PDF]

, 2012
Lmx1b, a LIM homeodomain transcription factor is necessary for limb, kidney, eye, and central nervous system development. Lmx1b knockout (KO) mice display; abnormal limb dorsalization with distal ventral-ventral limbs, nephropathy, ocular malformations ...
Feenstra, Jennifer
core   +1 more source

LMX1B co-immunoprecipitated protein identification.

, 2013
(A) IP against HIS, PSPC1 and LMX1B on LMX1B-HIS OE MN9D cell lysate, followed by separation on silver-stained SDS gel. The PSPC1 IP shows two protein bands that might represent both PSPC1 isoforms.
Marten P. Smidt (53462), Willem A. de Munnik (290579), Elisa J. Hoekstra (290576), Simone Mesman (290577)   +3 more
core   +1 more source

LMX1B Activated Circular RNA GFRA1 Modulates the Tumorigenic Properties and Immune Escape of Prostate Cancer

Journal of Immunology Research, 2022
Prostate cancer (PCa) is the most common cancer affecting men, with increasing global mortality and morbidity rates. Despite the progress in the diagnosis and treatment of PCa, patient outcomes remain poor, and novel therapeutic targets for PCa are ...
Min Meng, Yi-chen Wu
doaj   +1 more source

Sox, Fox, and Lmx1b binding sites differentially regulate a Gdf5-Associated regulatory region during elbow development

Frontiers in Cell and Developmental Biology, 2023
Introduction: The articulating ends of limb bones have precise morphology and asymmetry that ensures proper joint function. Growth differentiation factor 5 (Gdf5) is a secreted morphogen involved in cartilage and bone development that contributes to the ...
Ruth-Love Yeboah, Charmaine U. Pira, Matthew Shankel, Allen M. Cooper, Endika Haro, Van-Dai Ly, Kenrick Wysong, Michael Zhang, Nicole Sandoval, Kerby C. Oberg   +9 more
doaj   +1 more source