Results 141 to 150 of about 714,661 (305)

TECTB Variants Reveal Tectorial Membrane Vulnerability in Dominant Non‐Syndromic Hearing Loss

Advanced Science, EarlyView.
TECTB is a non‐collagenous protein of the tectorial membrane – an extracellular matrix of the cochlea. This study identifies dominant missense variants in TECTB linked to human hereditary deafness in two unrelated families. Genetically engineered mice homozygous for one of the variants are profoundly deaf, whereas heterozygous mice have normal hearing ...
Evan B. Hale, Barbara Vona, Richard J. Goodyear, Richard T. Osgood, Jun Shen, Sami S. Amr, Karen Mojica, Michaela A. H. Hofrichter, Jörg Schröder, Sophie Flandin, Paul Gratias, Ricardo Vera‐Monroy, Katherine Callahan, Kerry L. Gudlewski, Rolen Quadros, Masato Ohtsuka, JoAnn McGee, Edward J. Walsh, Cynthia C. Morton, Thomas Haaf, Channabasavaiah Gurumurthy, James E. Saunders, Guy P. Richardson, Artur A. Indzhykulian   +23 more
wiley   +1 more source

A de novo loss-of-function GRIN2A mutation associated with childhood focal epilepsy and acquired epileptic aphasia.

PLoS ONE, 2017
ObjectiveN-methyl-D-aspartate receptors (NMDAR) subunit GRIN2A/GluN2A mutations have been identified in patients with various neurological diseases, such as epilepsy and intellectual disability / developmental delay (ID/DD).
Kai Gao, Anel Tankovic, Yujia Zhang, Hirofumi Kusumoto, Jin Zhang, Wenjuan Chen, Wenshu XiangWei, Gil H Shaulsky, Chun Hu, Stephen F Traynelis, Hongjie Yuan, Yuwu Jiang   +11 more
doaj   +1 more source

Carpenter Syndrome: Extended RAB23 Mutation Spectrum and Analysis of Nonsense-mediated mRNA Decay

, 2011
Carpenter syndrome, a rare autosomal recessive disorder characterized by a combination of craniosynostosis, polysyndactyly, obesity, and other congenital malformations, is caused by mutations in RAB23, encoding a member of the Rab-family of small GTPases.
ELÇİOĞLU, HURİYE NURSEL
core   +1 more source

TNAP and PHOSPHO1 Function Synergistically to Afford Critical Control Over the Mineralization of the Postnatal Murine Skeleton

Advanced Science, EarlyView.
Biomineralization underpins skeletal development, yet its molecular control remains incompletely understood. Using a novel murine knockout model, this study reveals the essential and complementary roles of PHOSPHO1 and TNAP in postnatal skeletal development.
Lucie E. Bourne, Aikta Sharma, Scott Dillon, Jacob Keen, Soher N. Jayash, Natalie Crump, Lucinda A.E. Evans, Maya Karmali, Worachet Promruk, Claire E. Clarkin, Sonoko Narisawa, Louise Stephen, Brian L. Foster, José Luis Millán, Colin Farquharson, Katherine A. Staines   +15 more
wiley   +1 more source

MAFA missense mutation causes familial insulinomatosis and diabetes mellitus [PDF]

, 2018
The β cell-enriched MAFA transcription factor plays a central role in regulating glucose-stimulated insulin secretion while also demonstrating oncogenic transformation potential in vitro.
P Gabrovska (21875081), S Jenni (21875090), B Sipos (21875093), R Quezado (21875066), D Iacovazzo (21875063), S Ellard (13734760), R Stein (7721111), E Christ (21875087), P Chanson (21875099), G Kloppel (21875108), M Guo (9874145), M Brandle (14582945), MN Dang (21875078), K Dhatariya (13537942), W de Herder (21875102), A Frilling (21027596), F Antonio de Sousa (21875069), E Walker (13278144), M Korbonits (100247), R Caswell (21852980), MBJ Johnson (21875072), M Nieser (21875096), B Niederle (21875084), S Flanagan (16154129), M Wakeling (21875075), B Konukiewitz (21875105)   +25 more
core   +3 more sources

A Novel Subtype of Spondylocostal Dysplasia Associated With a Heterozygous Missense FLNA Variant

Orthopaedic Surgery
Background Spondylocostal dysplasia (SCD) is characterized by vertebral defects and rib abnormalities. Following radiological diagnosis, further genetic testing is conducted to confirm the mutant loci and identify the subtype of SCD.
Haoyu Cai, Xu'an Huang, Haojie Chen, Junduo Zhao, Heng Sun, Yizhen Huang, Jiayue Guo, Jianxiong Shen   +7 more
doaj   +1 more source

A novel missense KIT mutation causing piebaldism in one Chinese family associated with café-au-lait macules and intertriginous freckling

, 2015
Wei-Xue Jia,1,2 Xue-Min Xiao,1,2 Jian-Bing Wu,1,2 Yi-Ping Ma,1,2 Yi-Ping Ge,1,2 Qi Li,1,2 Qiu-Xia Mao,1,2 Cheng-Rang Li1,2 1Institute of Dermatology, Chinese Academy of Medical Sciences and Peking Union Medical College, Nanjing, Jiangsu, China; 2Jiangsu
Mao QX, Jia WX, Wu JB, Ma YP, Li Q, Xiao XM, Li CR, Ge YP   +7 more
core  

TP53 Loss Elevates NF‐κB‐IFN‐β‐MHC‐Ia Signaling to Promote NK Cell Resistance in Osteosarcoma

Advanced Science, EarlyView.
TP53 loss in a transforming or osteosarcoma cell promotes cytosolic DNA accumulation, activating NF‐κB‐dependent IFN‐β production. Autocrine IFN‐β signaling increases cell‐surface HLA‐Ia expression, strengthens inhibitory KIR signaling in natural killer cells, and thereby enables the affected cell to evade NK cell‐mediated cytotoxicity.
Guihui Qin, Cheung Kwan Yeung, Ye Yi, Dejin Zheng, Miaoman Ye, Chi‐Chong Chio, Jinjie Wu, Siyi Fu, Chu‐Xia Deng, Ren‐He Xu   +9 more
wiley   +1 more source

LIS1 Missense Mutations [PDF]

Journal of Biological Chemistry, 2003
Michal Caspi, Frédéric M. Coquelle, Cynthia Koifman, Talia Levy, Hiroyuki Arai, Junken Aoki, Jan R. De Mey, Orly Reiner   +7 more
openaire   +1 more source

Transposable Element Dynamics Drive the Genomic Evolution and Phenotypic Diversification of Allotetraploid Common Carp

Advanced Science, EarlyView.
By integrating 516 whole‐genome resequencing datasets and 236 transcriptomes of allotetraploid common carp, this study establishes the first population‐scale atlas of transposable element (TE) variation in teleost species. TE bursts, relaxed purifying selection, and lineage‐specific loss of ancient insertions shape genome evolution and phenotypic ...
Shuimu Hu, Zhou Jiang, Lin Chen, Gowena Ling Yi Goh, Weijing Li, Qian He, Xintong Chen, Rui Li, Yuxuan Liu, Ning Li, Tao Zhou, Peng Xu   +11 more
wiley   +1 more source