Results 31 to 40 of about 2,585 (164)

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 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, SUN Liying, ZHONG Wenyao, TIAN Wen   +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, Ebarasi, L, Zhao, Z, Guo, J, Ojala, JR, Hultenby, K, De Val, S, Betsholtz, C, Tryggvason, K   +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, 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

LMX1B is Essential for the Maintenance of Differentiated Podocytes in Adult Kidneys [PDF]

Journal of the American Society of Nephrology, 2013
Mutations of the LMX1B gene cause nail-patella syndrome, a rare autosomal-dominant disorder affecting the development of the limbs, eyes, brain, and kidneys. The characterization of conventional Lmx1b knockout mice has shown that LMX1B regulates the development of podocyte foot processes and slit diaphragms, but studies using podocyte-specific Lmx1b ...
Burghardt, T., Kastner, J., Suleiman, H., Rivera-Milla, E., Stepanova, N., Lottaz, C., Kubitza, M., Boeger, C., Schmidt, S., Gorski, M., de Vries, U., Schmidt, H., Hertting, I., Kopp, J., Rascle, A., Moser, M., Heid, I., Warth, R., Spang, R., Wegener, J., Mierke, C., Englert, C., Witzgall, R.   +22 more
openaire   +3 more sources

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

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 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