Results 11 to 20 of about 2,410 (172)

Single Nucleotide Polymorphisms in SLC5A1, CCNA1, and ABCC1 and the Association with Litter Size in Small-Tail Han Sheep [PDF]

Animals, 2019
SLC5A1, CCNA1, and ABCC1 have been extensively studied as candidate genes because of their great influence on the reproductive traits of animals. However, little is known about the association between polymorphisms of the SLC5A1, CCNA1, and ABCC1 genes ...
Yongfu La, Qiuyue Liu, Liping Zhang, Mingxing Chu   +3 more
doaj   +4 more sources

Importance of Genetic Sequencing Studies in Managing Chronic Neonatal Diarrhea: A Case Report of a Novel Variant in the Glucose–Galactose Transporter SLC5A1 [PDF]

Frontiers in Pediatrics
IntroductionCongenital glucose–galactose malabsorption (CGGM) is a rare autosomal recessive disorder that primarily causes chronic intractable diarrhea.
Sara Guillén, Marcela Vela-Amieva, Lizbeth López-Mejía   +2 more
exaly   +6 more sources

XBP1-mediated transcriptional regulation of SLC5A1 in human epithelial cells in disease conditions

Cell & Bioscience, 2023
Background Sodium-Glucose cotransporter 1 and 2 (SGLT1/2) belong to the family of glucose transporters, encoded by SLC5A1 and SLC5A2, respectively. SGLT2 is almost exclusively expressed in the renal proximal convoluted tubule cells. SGLT1 is expressed in
Yifei Sun, Yihan Zhang, Jifeng Zhang, Y. Eugene Chen, Jian-Ping Jin, Kezhong Zhang, Hongmei Mou, Xiubin Liang, Jie Xu   +8 more
doaj   +5 more sources

A family-based genome-wide association study of chronic rhinosinusitis with nasal polyps implicates several genes in the disease pathogenesis. [PDF]

PLoS ONE, 2017
The pathogenesis of chronic rhinosinusitis with nasal polyps is largely unknown. Previous studies have given valuable information about genetic variants associated with this disease but much is still unexplained.
Anton Bohman, Julius Juodakis, Martin Oscarsson, Jonas Bacelis, Mats Bende, Åsa Torinsson Naluai   +5 more
doaj   +3 more sources

Congenital glucose–galactose malabsorption: a novel deletion within the SLC5A1 gene

European Journal of Pediatrics, 2012
Glucose-galactose malabsorption (GGM) is an autosomal recessive disease caused by mutations in the Na(+)/glucose cotransporter gene SLC5A1 (OMIM 182380, phenotype number 606824). Patients with GGM present with neonatal onset of severe life-threatening diarrhoea and dehydration. We describe a 5-day-old girl with the typical clinical course of GGM.
Vallaeys, L., Van Biervliet, S., De Bruyn, G., Loeys, B., Moring, A.S., Van Deynse, E., Cornette, L.   +6 more
openaire   +4 more sources

Hesperidin Inhibits Colon Cancer Progression by Downregulating SLC5A1 to Suppress EGFR Phosphorylation [PDF]

Journal of Cancer
Objective: Hesperidin, an active constituent of traditional Chinese medicine, Chenpi, exhibits anticancer properties across different cancers. This study aimed to clarify the efficacy of Hesperidin against tumors and its mechanisms of action in colon cancer.
Lebin Yuan, Zhao Wu
exaly   +4 more sources

Novel Mutation in the SLC5A1 Gene Causing Glucose‐Galactose Malabsorption: First Confirmed Case From Central America

JPGN Reports, 2023
Congenital glucose‐galactose malabsorption is a rare cause of life‐threatening diet‐induced diarrhea in infants. Mutations in the SLC5A1 gene, which encodes for the sodium‐dependent glucose transporter, result in large‐volume diarrhea due to aberrant glucose and galactose transport across the intestinal brush border.
Katz, Daphna T., Curia, Suzzette, Fifi, Amanda C., Febo-Rodriguez, Liz, Llanos-Chea, Alejandro   +4 more
openaire   +3 more sources

Bitterness of Glucose/Galactose

Journal of Pediatric Gastroenterology and Nutrition, 2014
ABSTRACTGlucose galactose malabsorption (GGM) is a rare autosomal recessive disorder characterized by life‐threatening osmotic diarrhea at infancy. When the intake of the offending sugars (namely, glucose, galactose and lactose) is ceased, the diarrhea promptly stops.
Pode-Shakked, Ben, Reish, Orit, Aktuglu-Zeybek, Cigdem, Kesselman, Dafna, Dekel, Benjamin, Bujanover, Yoram, Anikster, Yair   +6 more
openaire   +3 more sources

Genome-wide association study of 1,5-anhydroglucitol identifies novel genetic loci linked to glucose metabolism [PDF]

Scientific Reports, 2017
1,5-anhydroglucitol (1,5-AG) is a biomarker of hyperglycemic excursions associated with diabetic complications. Because of its structural similarity to glucose, genetic studies of 1,5-AG can deliver complementary insights into glucose metabolism.
Man Li, Nisa M. Maruthur, Stephanie J. Loomis, Maik Pietzner, Kari E. North, Hao Mei, Alanna C. Morrison, Nele Friedrich, James S. Pankow, Matthias Nauck, Eric Boerwinkle, Alexander Teumer, Elizabeth Selvin, Anna Köttgen   +13 more
doaj   +4 more sources

Transcriptional changes detected in fecal RNA of neonatal dairy calves undergoing a mild diarrhea are associated with inflammatory biomarkers. [PDF]

PLoS ONE, 2018
After birth, a newborn calf has to adapt to an extrauterine life characterized by several physiological changes. In particular, maturation of the gastrointestinal tract in a new environment loaded with potential pathogens, which can predispose neonatal ...
Fernanda Rosa, Sebastiano Busato, Fatima C Avaroma, Kali Linville, Erminio Trevisi, Johan S Osorio, Massimo Bionaz   +6 more
doaj   +3 more sources