Results 71 to 80 of about 1,500 (175)

CDG due to Defective Membrane Transporters: Update

Journal of Inherited Metabolic Disease, Volume 49, Issue 1, January 2026.
ABSTRACT Congenital disorders of glycosylation are genetic defects in the glycoprotein and glycolipid glycan assembly and attachment. Some 200 CDG have been reported since the first clinical description in 1980. Most CDG are enzymatic deficiencies, but 13 (6.5%) are defects in the ER, Golgi apparatus (GA), and plasma membrane transporters.
D. Quelhas, C. R. Ferreira, J. Jaeken
wiley   +1 more source

Analysis of the genes SLC7A9 and SLC3A1 in unclassified cystinurics: Mutation detection rates and association between variants in SLC7A9 and the disease [PDF]

, 2002
Cystinuria is a common inherited disorder of defective renal reabsorption of cystine and dibasic amino acids. Recently, 2 responsible genes have been identified: mutations in the SLC3A1 gene encoding the glycoprotein rBAT cause cystinuria type I, while ...
LAHME S, TOMIUK J, ALBERS A, CAPASSO, Giovambattista, EGGERMANN K, LANG F, ZERRES K, EGGERMANN T., SCHMIDT C, WAGNER C, HESSE A   +10 more
core   +1 more source

Lactobacillus reuteri‐mediated dietary xylooligosaccharides enhance jejunal cell survival via suppression of oxygen‐dependent apoptotic processes in a pig model

iMeta, Volume 4, Issue 5, October 2025.
Interactions between functional oligosaccharides and small intestinal cells are increasingly recognized as critical for maintaining intestinal health. Using xylooligosaccharides (XOS) as a model, we demonstrate that XOS promote growth in piglets primarily by enhancing nutrient transport and increasing villus height in the jejunum.
Fuli Deng, Chang Yin, Chengzeng Luo, Ye Xu, Yuxia Chen, Ruqing Zhong, Shanlong Tang, Hongfu Zhang, Liang Chen   +8 more
wiley   +1 more source

The Life of a Kidney Podocyte

Acta Physiologica, Volume 241, Issue 8, August 2025.
ABSTRACT Aim Podocytes, highly specialized epithelial cells located in the glomerulus of the kidney, are essential to the filtration barrier that ensures separation of blood and urine. These cells exhibit a unique architecture, characterized by an intricate network of foot processes interconnected by slit diaphragms, which serve as a critical selective
Desiree Loreth, Wiebke Sachs, Catherine Meyer‐Schwesinger   +2 more
wiley   +1 more source

Gene Dosage Sensitivity and Human Genetic Diseases

Journal of Inherited Metabolic Disease, Volume 48, Issue 4, July 2025.
ABSTRACT Here we review the historical background and contemporary insights into genetic dominance, focusing on haploinsufficiency (HI), that is, when the function of only one allele of a gene is not enough to ensure a normal phenotype in a diploid organism.
Reiner A. Veitia, Johannes Zschocke, James A. Birchler   +2 more
wiley   +1 more source

Characterization of lithiasic phenotype. [PDF]

, 2015
A. Graph shows kidney calculi weight. Mean ± S.E.M of calculi weight (mg) of single mutants (Slc7a9-/-Slc3a1+/+ and Slc7a9+/+Slc3a1-/-) and double mutant (Slc7a9-/-Slc3a1-/-) are represented.
Eduardo Salido (179852), Esther Prat (794256), Clara Vilches (794255), Mariona Font-Llitjós (562770), Meritxell Espino (794254), Miguel López de Heredia (40876), Virginia Nunes (40884), Manuel Palacín (5649286)   +7 more
core   +1 more source

Detection and Isolation of Tissue‐Specific Extracellular Vesicles From the Blood

Journal of Extracellular Biology, Volume 4, Issue 6, June 2025.
ABSTRACT Extracellular vesicles (EVs) are nanosized, membrane‐bound particles released by virtually all cell types, serving as messengers within tissues and across organs via the bloodstream. EVs encapsulate diverse molecular cargo that reflects the phenotypic state of their originating cells, making them promising candidates for liquid biopsy ...
Lauren Newman, Andrew Rowland
wiley   +1 more source

Western blot of brush‐border kidney membranes. [PDF]

, 2015
Protein analysis of rBAT and b0,+AT in kidney brush‐border membranes of different genotypes. Fifty micrograms of protein were loaded in all lanes and run in non‐reducing conditions in 7% acrylamide SDS-page. Molecular mass standard (kDa) are indicated. A.
Eduardo Salido (179852), Esther Prat (794256), Clara Vilches (794255), Mariona Font-Llitjós (562770), Meritxell Espino (794254), Miguel López de Heredia (40876), Virginia Nunes (40884), Manuel Palacín (5649286)   +7 more
core   +1 more source

A Case of Hypotonia-Cystinuria Syndrome With Genito-Urinary Malformations and Extrarenal Involvement

Frontiers in Pediatrics, 2019
Hypotonia-Cystinuria syndrome (HCS) is a rare disease, caused by a mutation in two contiguous genes (SLC3A1 and PREPL) localized on chromosome 2p21, and it is characterized by both renal involvement with cystine stones and nervous involvement with ...
Francesca Taroni, Valentina Capone, Alfredo Berrettini, Erika Adalgisa De Marco, Gian Antonio Manzoni, Giovanni Montini, Giovanni Montini   +6 more
doaj   +1 more source

Epidemiological Evaluation of Neuter Status, Sex, and Breed in Dogs With Cystine Uroliths

Journal of Veterinary Internal Medicine, Volume 39, Issue 3, May/June 2025.
ABSTRACT Background The majority of cystine uroliths occur in intact male dogs. Androgen‐dependent (Type III) cystinuria is considered the most common cause. Objectives Identify dog breeds in which castration is likely to decrease the risk of cystine uroliths, the potential effect of delaying castration on cystine urolith formation, and urolith ...
Jody P. Lulich, Rachael Ulrich, Eva Furrow   +2 more
wiley   +1 more source