Results 181 to 190 of about 136,200 (251)

Function of untranslated regions in the mouse spermatogenesis-specific gene Tcp10 evaluated in transgenic mice.

, 1997
The mouse Tcp10 genes are transcribed exclusively in male germ cells and display multiple 5\u27 and 3\u27 untranslated variations generated by alternative splicing and polyadenylation signal usage.
Schimenti, J C, Ewulonu, U K
core  

Genetic Insights Into AVP Deficiency: Identification of a Novel AVP Variant and Compilation of a Curated Catalogue of Pathogenic Variants

Clinical Genetics, EarlyView.
We identified a novel pathogenic AVP variant in two Danish families with autosomal dominant inheritance of symptoms of AVP deficiency. In addition, we compiled a catalogue of additionally 109 AVP variants that cause AVP deficiency and demonstrated the advantage of combining expert‐assisted curation, literature search, and online repositories to ensure ...
Jennifa Joseph, Esben Søndergaard, Sine Knorr, Jane Hagelskjær Knudsen, Søren Rittig, Jane Hvarregaard Christensen   +5 more
wiley   +1 more source

Molecular Analysis of Nucleocapsid Gene and 3' Untranslated Regions of an Infectious Bronchitis Virus Isolate Originated from Broilers in Maragheh. [PDF]

Arch Razi Inst
Majdani R, Shaki MA.
europepmc   +1 more source

A polymorphic CACA repeat in the 3′ untranslated region of dystrophin

Nucleic Acids Research, 1990
A H, Beggs, L M, Kunkel
openaire   +3 more sources

USP34 Haploinsufficiency as a Cause of Neurodevelopmental Phenotypes

Clinical Genetics, EarlyView.
Heterozygous loss‐of‐function variants in USP34 cause a novel neurodevelopmental disorder characterized by global developmental delay, speech impairment, autism, hypotonia, craniofacial dysmorphism, and distal limb anomalies. Disrupted Wnt/β‐catenin signaling via reduced Axin stabilization refines gene‐specific contributions within 2p15p16.1 ...
Helena Wigoda, Amjad Khan, Bryce A. Mendelsohn, Noriko Miyake, Nobuhiko Okamoto, Naomichi Matsumoto, Patricia J. C. Knijnenburg, Johanna M. van Hagen, Jiddeke van de Kamp, Quinten Waisfisz, Bryn D. Webb   +10 more
wiley   +1 more source

A Specific tRNA Half, 3'tiRNA‐GlyGCC, Regulates Hypoxic Pulmonary Artery Smooth Muscle Cell Proliferation via Myrf‐Mediated Endoplasmic Reticulum Stress

Cell Proliferation, EarlyView.
A schematic diagram illustrating how 3′tiRNA‐GlyGCC promotes the endoplasmic reticulum stress (ERS) and proliferation in hypoxic pulmonary artery smooth muscle cells (PASMCs) by inhibiting the expression of myelin regulatory factor (Myrf), ultimately leading to pulmonary hypertension (PH).
Lixin Zhang, Xiaoyu Guan, Xiangrui Zhu, Yingying Hao, Ya Xu, Hao Yuan, Danni Gao, Hongxia Du, Jiayu Li, Weiwei Cao, Cui Ma, Xiaoying Wang   +11 more
wiley   +1 more source

Mechanisms of Thrombocytosis in Iron‐Deficiency Anemia

European Journal of Haematology, EarlyView.
ABSTRACT Iron‐deficiency anemia is frequently accompanied by reactive thrombocytosis, yet the mechanisms underlying this association remain incompletely understood. Beyond impaired erythropoiesis, iron availability has emerged as an active regulator of hematopoietic lineage decisions.
João Vitor Facco, Diane S. Krause, Sara T. Olalla Saad   +2 more
wiley   +1 more source

Behind the scenes: how the EMILIN/Multimerin family shapes the cancer landscape

The FEBS Journal, EarlyView.
The EMILIN/Multimerin family members regulate key hallmarks of cancer—including apoptosis, angiogenesis, metastasis, and tumor microenvironment remodeling. As indicated, their function in immune evasion, drug resistance, and metabolic reprogramming remains largely unexplored.
Evelina Poletto, Naike Casagrande, Emanuele Di Siena, Greta Carobolante, Lucrezia Camicia, Giorgia Schinello, Samanta Muzzin, Enrica Timis, Paola Spessotto, Maurizio Mongiat   +9 more
wiley   +1 more source

GCN2 in proteostasis: structural logic, signalling networks and disease

The FEBS Journal, EarlyView.
Threats to protein synthesis activate the kinase GCN2, initiating the integrated stress response (ISR). GCN2 is triggered by stalled ribosomes and uncharged tRNAs, which accumulate when amino acids are scarce. The ISR adjusts cellular physiology by promoting redox balance, protein quality control, and mitochondrial optimisation.
JiaYi Zhu, Stefan J. Marciniak
wiley   +1 more source