Results 121 to 130 of about 714,611 (262)

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 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

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

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

Identification of a missense mutation in the alphaA-crystallin

, 1999
PURPOSE: The mouse lop18 (lens opacity 18) mutation causes a white cataract obvious at weaning age. It soon progresses to a large white nuclear cataract with mild cortical changes.
Chang, B, Horwitz, J, Roderick, T H, Hawes, N L, Smith, R S, Heckenlively, J R, Davisson, M T   +6 more
core   +1 more source

Dual Repression by IPA1 Fine‐Tunes OsbZIP79‐Mediated Salt Tolerance in Rice

Advanced Science, EarlyView.
Dual repression by IPA1 fine‐tunes OsbZIP79‐mediated salt tolerance in rice: direct transcriptional inhibition under normal conditions and salt‐induced degradation under stress. This dual mechanism activates OsbZIP79 to regulate Na+/K+ homeostasis and redox balance via downstream genes, enabling optimal salt stress response.
Hui Wang, Bo Liu, Can Hu, Chenfan Zheng, Yuting Wei, Xier Xu, Wei Yang, Yu Fang, Guangle Shen, Pedro García‐Caparros, Conghe Zhang, Qingyao Shu, Meng Jiang   +12 more
wiley   +1 more source

Ciliary Membrane Lipid Homeostasis in Health and Disease

Advanced Science, EarlyView.
This review systematically delineates the distinct lipid landscapes of ciliary membranes, including the spatial organization of phosphoinositides, cholesterol, and sphingolipids. It elucidates how these lipids orchestrate ciliogenesis, signal transduction, and membrane dynamics in cilia beating, and highlights how their dysregulation drives ...
Zhenzhou Huang, Yuan‐yuan Liu, Hanqi Sun, Peiwei Liu   +3 more
wiley   +1 more source

Galactokinase 1 Positively Regulates Mitochondrial Respiration by Phosphorylating TIMM13 as a Protein Kinase

Advanced Science, EarlyView.
GALK1 acts as a protein kinase beyond the phosphorylation of galactose. GALK1 phosphorylates TIMM13 at Y73 in the cytoplasm. This phosphorylation prevents premature oxidative folding of TIMM13 and ensures its entrance into the intermembrane space of mitochondrion, positively regulating mitochondrial respiration.
Chang Woo Ko, Dongyoon Shin, Junho Park, June Huh, Youngsoo Kim, Jong‐Wan Park   +5 more
wiley   +1 more source