Results 51 to 60 of about 452,408 (160)

Population Genomic Analysis in Wild Medaka Populations: Identifying Candidate Loci for Balancing Selection

Ecology and Evolution, Volume 16, Issue 10, October 2026.
We explored genomic signatures of balancing selection and selective sweep in the northern medaka, Oryzias sakaizumii in Japan by performing whole‐genome resequencing of wild individuals. In addition, we reevaluated the population genetic structure and admixture of Oryzias latipes and O.
Shingo Fujimoto, Taijun Myosho, Hirozumi Kobayashi, Hiroaki Aoyama, Iki Murase, Bayu K. A. Sumarto, Mitsuharu Yagi, Taiga Kunishima, Masatoshi Matsunami, Ryosuke Kimura   +9 more
wiley   +1 more source

The neuropsychological impact of early childhood trauma on cognitive development: A narrative review of mechanisms, outcomes, and interventions

Psychiatry and Clinical Neurosciences Reports, Volume 5, Issue 3, September 2026.
Abstract Research indicates that early traumatic experiences can profoundly affect a child's ability to manage emotions, develop social skills, and adapt effectively. Still, the impact of trauma on children goes beyond just emotional and behavioral dimensions.
Kalliopi Megari, Kremena Dinkova Genova
wiley   +1 more source

CBLC ubiquitin ligase activity is required for Golgi but not SRC levels regulation.

, 2015
(A) Requirement of CBLC RING domain. HeLa wild type (WT) or stably expressing siRNA-resistant-CBLC (CBLC-GFP) or siRNA-resistant-CBLC RING mutant (C351A-GFP) cells were transfected with deconvoluted CBLC-7 siRNA. Golgi stained with Giantin.
Adrian Boey (573783), Frederic Bard (798730), Germaine Goh (798727), Joanne Chia (798728), Natalia V. Gunko (798729), Wan Yin Lee (798726)   +5 more
core   +1 more source

Ubiquitin and ubiquitin‐like modifications in the endoplasmic reticulum stress response

The FEBS Journal, Volume 293, Issue 18, Page 5481-5513, September 2026.
Endoplasmic reticulum (ER) stress activates various proteostasis control processes, including the unfolded protein response, ribosome‐associated quality control, and ER‐associated degradation. Ubiquitin and ubiquitin‐like modifications dynamically regulate these processes to determine cell fate, promoting adaptation or inducing cell death.
Tony Avril, Matthieu Le Gallo, Elodie Lafont   +2 more
wiley   +1 more source

Expanded Newborn Screening for Inborn Errors of Metabolism and Genetic Characteristics in a Chinese Population

Frontiers in Genetics, 2018
The incidence of inborn errors of metabolisms (IEMs) varies dramatically in different countries and regions. Expanded newborn screening for IEMs by tandem mass spectrometry (MS/MS) is an efficient approach for early diagnosis and presymptomatic treatment
Kejian Guo, Xuan Zhou, Xuan Zhou, Xigui Chen, Yili Wu, Yili Wu, Yili Wu, Chuanxin Liu, Chuanxin Liu, Qingsheng Kong, Qingsheng Kong   +10 more
doaj   +1 more source

First Revision of the Guidelines for the Diagnosis and Management of Remethylation Disorders

Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.
ABSTRACT This guideline summarizes diagnostic and therapeutic approaches based on a systematic literature review and evidence evaluation using the GRADE methodology. Given the limited high‐quality data, expert consensus was additionally obtained through a modified Delphi process.
Giorgia Olivieri, Andrea Bordugo, Birute Burnyte, Alessandro Costetti, Maria‐Luz Couce, Luisa Diogo, Francois Feillet, D. Sean Froese, Benedetta Greco, Jean‐Louis Gueant, Luciana Hannibal, Friederike Hörster, Viktor Kožich, Giancarlo La Marca, Irini Manoli, Fanny Mochel, Lorenzo Orazi, Belén Pérez, Manuel Schiff, Bernd C. Schwahn, Ida Schwartz, Karolina M. Stepien, Jolanta Sykut‐Cegielska, Trine Tangeraas, Rolf H. Zetterström, Carlo Dionisi‐Vici, Martina Huemer   +26 more
wiley   +1 more source

Multiomic analysis in fibroblasts of patients with inborn errors of cobalmin metabolism reveals concordance with clinical and metabolic variabilityResearch in context

EBioMedicine
Summary: Background: The high variability in clinical and metabolic presentations of inborn errors of cobalamin (cbl) metabolism (IECM), such as the cblC/epicblC types with combined deficits in methylmalonyl-coA mutase (MUT) and methionine synthase (MS),
Arnaud Wiedemann, Abderrahim Oussalah, Rosa-Maria Guéant Rodriguez, Elise Jeannesson, Marc Mertens, Irina Rotaru, Jean-Marc Alberto, Okan Baspinar, Charif Rashka, Ziad Hassan, Youssef Siblini, Karim Matmat, Manon Jeandel, Celine Chery, Aurélie Robert, Guillaume Chevreux, Laurent Lignières, Jean-Michel Camadro, François Feillet, David Coelho, Jean-Louis Guéant   +20 more
doaj   +1 more source

Immune Dysregulation in Branched Chain Organic Acidemias

Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.
ABSTRACT Organic acidemias (OAs) are a group of inherited disorders, most commonly caused by defects in mitochondrial enzymes involved in amino acid and fatty acid metabolism. While they characteristically present with metabolic and neurological crises, growing evidence reveals a significant burden of chronic immune dysregulation in some disorders and ...
Abdul L. Shakerdi, Jack Drda, Justin A. Dutta, Jerry Vockley   +3 more
wiley   +1 more source

CBLC and SRC antagonistic effect on the Golgi apparatus.

, 2015
Giantin staining in HeLa cells. Fragmentation Index measured in quadruplicates on at least 400 cells per condition. Error bars show SD statistical significance (p) measured by unpaired Student’s t-test.
Adrian Boey (573783), Frederic Bard (798730), Germaine Goh (798727), Joanne Chia (798728), Natalia V. Gunko (798729), Wan Yin Lee (798726)   +5 more
core   +1 more source

Cobalamin C defect-hemolytic uremic syndrome caused by new mutation in MMACHC

, 2016
Atypical hemolytic uremic syndrome (aHUS) is mostly linked to defects in the regulation of alternative complement pathway, but a rare form is caused by an inherited defect of cobalamin 1 metabolism. Cobalamin C (cblC) deficiency is an autosomal recessive
Adrovic, Amra, Canpolat, Nur, Kıykım, Ertugrul, Sever, Lale, Baumgartner, Matthias R; https://orcid.org/, Caliskan, Salim, Agbas, Ayse, Agbas A, Adrovic A, Baumgartner MR, Sever L, Caliskan S, Canpolat N, Kıykım E, Kiykim, Ertugrul, BAUMGARTNER, Matthias R.   +15 more
core   +2 more sources