Results 61 to 70 of about 1,993 (190)

Hemolytic Uremic Syndrome Due to Methylmalonic Acidemia and Homocystinuria in an Infant: A Case Report and Literature Review

Children, 2021
Methylmalonic acidemia and homocystinuria cobalamin C (cblC) type is the most common inborn error of the intracellular cobalamin metabolism, associated with multisystem involvement and high mortality rates, especially in the early-onset form of the ...
Vasiliki Karava, Antonia Kondou, John Dotis, Georgia Sotiriou, Spyridon Gerou, Helen Michelakakis, Euthymia Vargiami, Marina Economou, Dimitrios Zafeiriou, Nikoleta Printza   +9 more
doaj   +1 more source

Adult-onset combined methylmalonic acidemia and hyperhomocysteinemia, cblC type with aortic dissection and acute kidney injury: a case report

BMC Nephrology
Background Combined methylmalonic acidemia (MMA) and hyperhomocysteinemia, cobalamin C (cblC) type, also named cblC deficiency is a rare autosomal recessive genetic metabolic disease.
Qiufa Hao, Bei Jiang, Yuying Zhao, Zhao Hu   +3 more
doaj   +1 more source

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

SRC recruits CBLC to the Golgi apparatus.

, 2015
(A) CBL and CBLC localize to the Golgi apparatus. MannII-GFP and endogenous CBL, CBLB, or CBLC staining in HeLa cells. (B) SRC activation enhances recruitment of CBLC to the Golgi apparatus.
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

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 regulates Golgi ribbon formation.

, 2015
(A) Immunostaining of Golgi using Mannosidase II (green), TGN46 (red) and Giantin (white). Scale bar = 10 μm (B, C) Electron microscopy reveals intact but shorter Golgi stacks in CBLC-depleted cells. Scale bar = 0.5 μm.
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

Case report: An asymptomatic mother with an inborn error of cobalamin metabolism (cblC) detected through high homocysteine levels during prenatal diagnosis

Frontiers in Nutrition, 2023
BackgroundThe most common disorder of the intracellular cobalamin metabolism pathway is the combined methylmalonic acidemia and homocysteinemia, cblC type (cblC). There is a variation in its clinical spectrum ranging from severe neonatal-onset forms that
Yu-Peng Liu, Yu-Peng Liu, Ru-Xuan He, Zhe-Hui Chen, Lu-Lu Kang, Jin-Qing Song, Yi Liu, Chun-Yan Shi, Jun-Ya Chen, Hui Dong, Yao Zhang, Meng-Qiu Li, Ying Jin, Jiong Qin, Yan-Ling Yang   +14 more
doaj   +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

Retinal dysfunction in combined methylmalonic aciduria and homocystinuria (Cblc) disease: a spectrum of disorders.

, 2008
BACKGROUND: Cobalamin C methylmalonic aciduria with homocystinuria (cblC disease) is a rare hereditary inborn error of cobalamin metabolism, characterised by neurological, haematological and ophthalmological abnormalities.
Matthieu, J.M., Borruat, F.X., Gaillard, M.C.   +2 more
core   +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