Results 91 to 100 of about 1,500 (175)

Mutation analysis of SLC7A9 in cystinuria patients in Sweden [PDF]

, 2003
Cystinuria is an autosomal recessive disorder characterized by increased urinary excretion of cystine and dibasic amino acids, which cause recurrent stone formation in affected individuals.
Denneberg, Torsten,, Molbæk, Annette,, Molbaek, A, Harnevik, Lotta,, Harnevik, L, Söderkvist, Peter,, Fjellstedt, Erik, Soderkvist, P, Lund University., Denneberg, T, Fjellstedt, Erik,   +10 more
core   +1 more source

Natural Hydrogels Support Kidney Organoid Generation and Promote In Vitro Angiogenesis

Advanced Materials, Volume 36, Issue 34, August 22, 2024.
Natural hydrogels derived from decellularized porcine or human kidney tissues are used to generate kidney organoids from human pluripotent stem cells, resulting in the enrichment of organoids’ endogenous vascular component and improved renal differentiation. Exploiting the autonomous capacity of kidney organoids to exhibit endogenous vascularization in
Elena Garreta, Daniel Moya‐Rull, Andrés Marco, Gaia Amato, Asier Ullate‐Agote, Carolina Tarantino, Maria Gallo, David Esporrín‐Ubieto, Alberto Centeno, Amaia Vilas‐Zornoza, Rafael Mestre, María Kalil, Izar Gorroñogoitia, Ane Miren Zaldua, Samuel Sanchez, Laura Izquierdo Reyes, María Eugenia Fernández‐Santos, Felipe Prosper, Nuria Montserrat   +18 more
wiley   +1 more source

Further delineation of genotype-phenotype correlation in homozygous 2p21 deletion syndromes: first description of patients without cystinuria [PDF]

, 2013
Homozygous contiguous gene deletion syndromes are rare. On 2p21, however, several overlapping homozygous gene deletion syndromes have been described, all presenting with cystinuria but otherwise distinct phenotypes.
Bartholdi, Deborah, Deborah Bartholdi, Alessandra Baumer, Oneda, Beatrice, Tonella, Paolo, Schmitt-Mechelke, Thomas, Rauch, Anita, Asadollahi, Reza, Baumer, Alessandra, Thomas Schmitt‐Mechelke, Beatrice Oneda, Anita Rauch, Paolo Tonella, Reza Asadollahi   +13 more
core   +1 more source

Exploring the effect of feeding broiler chickens a diet incorporating unfermented or fermented palm kernel cake: growth performance, digestibility, biochemical indices, digestive enzyme activity, and mRNA gene expression of nutrient transporters

Italian Journal of Animal Science
This study evaluated the effect of substituting corn and soybeans in broiler chickens’ diets by incorporating unfermented or fermented palm kernel cake (PKC).
Sindaye Daniel, Shehata Zeid, Liao Jinghong, Suqin Hang   +3 more
doaj   +1 more source

Characterization of the SLC3A1 (D2H) gene and mutation analysis of cystinuria patients in Québec [PDF]

, 1997
Cystinuria is an autosomal recessive disorder of the kidneys and intestine with defective luminal transport of cystine and other dibasic amino acids (ornithine, arginine, and lysine).
Saadi, Irfan.
core  

Cystinuria subtype and the risk of nephrolithiasis11See Editorial by Chesney, p. 279 [PDF]

, 1998
Cystinuria subtype and the risk of nephrolithiasis.BackgroundCystinuria patients may be classified into several subgroups based on the urinary phenotype of heterozygotes.
Ong, Patricia, Elkas, Gay, Saadi, Irfan, Rozen, Rima, Goodyer, Paul   +4 more
core   +1 more source

mRNA and protein expression of cystine transporters Slc3a1/rBAT and Slc7a9/b^0,+AT in kidney cortex from 129S2/SvPasCrl and C57bBL/6J mice. [PDF]

, 2014
A–B, Quantitative PCR: Slc3a1 and Slc7a9 mRNA expression was similar in both strains. C, Western Blot: b0,+AT was expressed at a similar level in kidney cortex from both strains.
Marine Livrozet (601975), Jean-Jacques Boffa (497044), Laurent Baud (322788), Jean Jaubert (601978), Sophie Vandermeersch (397656), Elizabeth Thioulouse (601977), Jean-Philippe Haymann (397659), Michel Daudon (294283), Laurent Mesnard (601976), Emmanuel Letavernier (322787), Dominique Bazin (294281)   +10 more
core   +1 more source

Detection of Mutation in Exons 3 and 8 of SLC3A1 and Exons 4 and 10 of SLC7A9 Genes in Patients with Cystinuria in Iran

مجله دانشکده پزشکی اصفهان, 2014
Background: Cystinuria, one of the first diagnosed inborn errors of metabolism, recognized by hyperexcretion of cystine, lysine, ornithine and arginine into the urine.
Leila Koulivand, Mehrdad Mohammadi, Rasoul Salehi, Behrouz Ezatpour, Majid Kheirollahi   +4 more
doaj  

Bladder outlet obstruction in male cystinuria mice [PDF]

, 2009
Background: Cystinuria is the most common inherited cause of urinary tract stones in children. It can lead to obstructive uropathy, which is a major cause of renal failure.
Reimer, David, Min Yang, Sahota, Amrik, Levin, Robert M., Joseph G. Barone, Catherine Schuler, Amrik Sahota, Evan, Andrew P., Barone, Joseph G., Tischfield, Jay A., Andrew P. Evan, Robert M. Levin, Ercolani, Mathew, Yang, Min, Jay A. Tischfield, Mathew Ercolani, Schuler, Catherine, David Reimer   +17 more
core   +3 more sources

Pediatric Cystinuria Patient With Novel Mutation in SLC3A1 [PDF]

Global Pediatric Health, 2019
Yoshitaka Watanabe, Yoshifusa Abe, Shinichi Sakamoto, Eiji Morimoto, Yuko Taki, Satoshi Hibino, Takashi Fukagai, Shuichiro Watanabe   +7 more
openaire   +2 more sources