Results 141 to 150 of about 911,373 (309)

The genetics of feto-placental development: A study of acid phosphatase locus 1 and adenosine deaminase polymorphisms in a consecutive series of newborn infants [PDF]

, 2008
F. Gloria‐Bottini, Adalgisa Pietropolli, Luca Coppeta, Andrea Magrini, Antonio Bergamaschi, E. Bottini   +5 more
openalex   +1 more source

Analysis of Treacher Collins syndrome 4‐associated mutations in Schizosaccharomyces pombe

FEBS Open Bio, EarlyView.
Fission yeast models carrying Treacher Collins syndrome type 4‐associated mutations reveal that impaired processivity of RNA polymerase I leads to defective rRNA transcription. This study highlights the essential role of a conserved arginine residue in Pol I elongation and provides mechanistic insight into the pathogenesis of ribosomopathies.
Kei Kawakami, Hiroaki Kato
wiley   +1 more source

DDX3X induces mesenchymal transition of endothelial cells by disrupting BMPR2 signaling

FEBS Open Bio, EarlyView.
Elevated DDX3X expression led to downregulation of BMPR2, a key regulator of endothelial homeostasis and function. Our co‐immunoprecipitation assays further demonstrated a molecular interaction between DDX3X and BMPR2. Notably, DDX3X promoted lysosomal degradation of BMPR2, thereby impairing its downstream signaling and facilitating endothelial‐to ...
Yu Zhang, Jing Wang, De‐Hui Qian, Yang‐Fan Lv, Tian‐Le Cheng, Da‐Peng Wang, Jing Zhang, Ye Fan   +7 more
wiley   +1 more source

Population genetics of a sex-linked locus in Drosophila melanogaster [PDF]

, 2009
J. S. F. Barker
openalex   +1 more source

Genome-wide Meta-analysis Finds the ACSL5-ZDHHC6 Locus Is Associated with ALS and Links Weight Loss to the Disease Genetics [PDF]

, 2020
Alfredo Iacoangeli, Tian Lin, Ahmad Al Khleifat, Ashley Jones, Sarah Opie-Martin, Jonathan R. I. Coleman, Aleksey Shatunov, William Sproviero, Kelly L. Williams, Fleur C. Garton, Restuadi Restuadi, Anjali K. Henders, Karen A. Mather, Merrilee Needham, Susan Mathers, Garth A. Nicholson, Dominic B. Rowe, Robert D. Henderson, Pamela McCombe, Roger Pamphlett, Ian P. Blair, David Schultz, Perminder S. Sachdev, Stephen Newhouse, Petroula Proitsi, Isabella Fogh, Shyuan T. Ngo, Richard Dobson, Naomi R. Wray, Frederik J. Steyn, Ammar Al‐Chalabi   +30 more
openalex   +1 more source

TMC4 localizes to multiple taste cell types in the mouse taste papillae

FEBS Open Bio, EarlyView.
Transmembrane channel‐like 4 (TMC4), a voltage‐dependent chloride channel, plays a critical role in amiloride‐insensitive salty taste transduction. TMC4 is broadly expressed in all mature taste cell types, suggesting a possible involvement of multiple cell types in this pathway.
Momo Murata, Yoshikazu Saito, Yoichi Kasahara, Wataru Fujii, Takumi Misaka, Tomiko Asakura, Masataka Narukawa   +6 more
wiley   +1 more source

Population genetics of the ABO locus within the rhesus (Macaca mulatta) and cynomolgus (M. fascicularis) macaque hybrid zone [PDF]

, 2018
Robert F. Oldt, Sreetharan Kanthaswamy, M. Montes, Laura Schumann, Jose Grijalva, Srichan Bunlungsup, Paul Houghton, David Glenn Smith, Suchinda Malaivijitnond   +8 more
openalex   +1 more source

Down‐regulation of Shh in the hair follicles of mice during chemotherapy‐induced hair loss is mediated by the JAK/STAT1 signaling pathway

FEBS Open Bio, EarlyView.
We found that during chemotherapy‐induced alopecia (CIA), Sonic hedgehog (Shh) expression significantly decreased in hair follicle Shh+ cells, whereas the Janus‐activated kinase/signal transducer and activator of transcription 1 (JAK/STAT1) signaling pathway was markedly activated.
Ruifang Fan, Jingling Huang, Xiang Lin, Tingjiao Lan, Yuli Tang, Ling Sun, Guixuan Zhou   +6 more
wiley   +1 more source

A Schizophrenia Gene Locus on Chromosome 17q21 in a New Set of Families of Mexican and Central American Ancestry: Evidence From the NIMH Genetics of Schizophrenia in Latino Populations Study

, 2009
Michael Escamilla, Elizabeth Hare, Albana Dassori, Juan M. Peralta, Alfonso Ontiveros, Humberto Nicolini, Henriette Raventós, Rolando Medina, Ricardo Mendoza, Alvaro Jerez, Rodrigo Muñoz, Laura Almasy   +11 more
openalex   +2 more sources

The molecular genetics and epigenetics of COLGALT2, a risk locus for osteoarthritis [PDF]

, 2020
Yulia S. Kehayova, J. Mark Wilkinson, John Loughlin, Sarah J. Rice   +3 more
openalex   +1 more source