Results 231 to 240 of about 667,667 (355)

Mechanisms involved in aminoacidurias: impacts of genetic and environmental factors. [PDF]

Curr Res Physiol
Ajayi JA, Ananias EN, Issa-Lawal M, Gambari AM, Aribatise AB, Ojulari LS, Alagbonsi AI.   +6 more
europepmc   +1 more source

Base pairing between the 3' exon and an internal guide sequence increases 3' splice site specificity in the Tetrahymena self-splicing rRNA intron. [PDF]

, 1990
E R Suh, Richard B. Waring
openalex   +1 more source

ADAR1 as a Placental Innate Immune Rheostat Sustaining the Homeostatic Balance of Intrinsic Interferon Response at the Maternal‐Fetal Interface

Advanced Science, EarlyView.
This study reveals that ADAR1, an RNA‐editing enzyme, fine‐tunes immune responses in the placenta by preventing the accumulation of immunogenic double‐stranded RNAs (dsRNAs) from interferon‐stimulated genes. The loss of ADAR1 in the placenta leads to excessive interferon signaling restricted to the junctional zone, disrupting placental development and ...
Xiaogang Chen, Xiangchao Xu, Jiahao Chen, Huiru Zhang, Wanshan Zheng, Wenzhe Yu, Xiaoqian Hu, Bin Cao   +7 more
wiley   +1 more source

Three intronic variants altering RNA splicing were identified in the CLCN5 gene by minigene assay. [PDF]

BMC Med Genomics
Qiao D, Liu X, Bottillo I, Zhang R, Shao L.   +4 more
europepmc   +1 more source

Sequence of the intron/exon junctions of the coding region of the human androgen receptor gene and identification of a point mutation in a family with complete androgen insensitivity.

, 1989
Dennis B. Lubahn, T. R. Brown, J A Simental, Henry N. Higgs, Claude J. Migeon, Elizabeth M. Wilson, Frank S. French   +6 more
openalex   +1 more source

Sequence homology between bacteriorhodopsin and G‐protein coupled receptors: exon shuffling or evolution by duplication? [PDF]

, 1993
Ethan Will Taylor, Atul Agarwal
openalex   +1 more source

Pathogenicity of Mediator Complex Subunit 27 (MED27) in a Neurodevelopmental Disorder with Cerebellar Atrophy

Advanced Science, EarlyView.
MED27 is one of the 26 subunits in the human Mediator complex (MED). Neurodevelopmental disorder‐causing MED27 genetic variants induce instability of MED, leading to disrupted DNA occupancy, altered chromatin interaction, and subsequent transcriptional dysregulation of critical downstream genes, including master regulatory transcription factors ...
Nuermila Yiliyaer, Xiaocheng Li, Tianyu Guo, Haiying Zhou, Lihai Gong, Luowei Yuan, Yang Fu, Yulong Qiao, Ying Lam Lui, Nuo Chen, Pengfei Lin, Hoi Hung Cheung, Ho Ko, Linyan Meng, Xiao Chen, Yong Lei, Kin Ming Kwan, Huating Wang, Shen Gu   +18 more
wiley   +1 more source

From paleness to albinism: Contribution of OCA2 exon 10 skipping to hypopigmentation. [PDF]

PLoS Genet
Mercier E, Trégouët DA, Campagne S, Michaud V, Green DJ, Mesdaghi S, Le Gallais O, Jouannigot-Castano O, Rigden DJ, Estay-Ahumada C, Hicks D, Sergouniotis PI, Arveiler B, Javerzat S.   +13 more
europepmc   +1 more source

Individual exons encode the integral membrane domains of human myelin proteolipid protein.

, 1986
H J Diehl, Markus Schaich, Ralph-Michael BUDZINSKI, W. Stoffel   +3 more
openalex   +1 more source

BLOC1S1 Attenuates B. Melitensis 16M LPS‐Triggered Autophagy by Spatial Confinement of TDP‐43

Advanced Science, EarlyView.
This study explores how B. melitensis 16M LPS and BLOC1S1 regulate autophagy in goat spermatogonial stem cells. The 16M LPS is activating AMPK‐dependent autophagy, increasing LC3B‐II/I ratios and lysosomal genes, while Escherichia coli LPS shows no effect.
Shicheng Wan, Miao Han, Mengfei Zhang, Wenbo Chen, Fangde Xie, Xuan Luo, Wenping Wu, Congliang Wang, Donghui Yang, Bin Han, Haijing Zhu, Haisheng Yu, Na Li, Jinlian Hua   +13 more
wiley   +1 more source