Results 1 to 10 of about 6,612 (215)

Digenic Inheritance in Cystinuria Mouse Model. [PDF]

PLoS ONE, 2015
Cystinuria is an aminoaciduria caused by mutations in the genes that encode the two subunits of the amino acid transport system b0,+, responsible for the renal reabsorption of cystine and dibasic amino acids. The clinical symptoms of cystinuria relate to
Meritxell Espino, Mariona Font-Llitjós, Clara Vilches, Eduardo Salido, Esther Prat, Miguel López de Heredia, Manuel Palacín, Virginia Nunes   +7 more
doaj   +5 more sources

Mitochondrial SLC3A1 regulates sexual dimorphism in cystinuria [PDF]

Genes and Diseases
Cystinuria is the most common inheritable cause of kidney stone disease, with males exhibiting a higher susceptibility than females. However, the cellular origin and underlying mechanisms of sex differences in cystinuria remain elusive.
Jingyi Su, Yongdong Pan, Fengbo Zhong, Yi Zhong, Jiaxin Huang, Shengnan Liu, Kaiyuan Wang, Kai Lin, Xiangchen Gu, Dali Li, Qihui Wu, Hongquan Geng, Yuting Guan, Guofeng Xu   +13 more
doaj   +3 more sources

Cystinuria: an inborn cause of urolithiasis [PDF]

Orphanet Journal of Rare Diseases, 2012
Cystinuria (OMIM 220100) is an inborn congenital disorder characterised by a defective cystine metabolism resulting in the formation of cystine stones.
Eggermann Thomas, Venghaus Andreas, Zerres Klaus   +2 more
doaj   +2 more sources

Cystinuria in an Australian Cattle Dog Family—A Seemingly Androgen-Associated Autosomal Dominant Trait [PDF]

Veterinary Sciences
In Australian Cattle Dogs (AUCDs), cystinuria was reported to be an autosomal dominant trait caused by a 6 bp deletion in the SLC3A1 gene (type II-A). Here we report an androgen association in this breed.
Alexandra Kehl, Maria Brockmann, Sabine Helmes, Andrea Hildebrand, Sabine Döll, Elisabeth Mueller, Urs Giger   +6 more
doaj   +2 more sources

Novel compound heterozygous pathogenic variants in the SLC3A1 gene in a Chinese family with cystinuria [PDF]

BMC Medical Genomics, 2023
Background Cystinuria is an autosomal recessive disorder characterized by a cystine transport deficiency in the renal tubules due to mutations in two genes: SLC3A1 and SLC7A9.
Danhua Liu, Yongli Zhao, Xia Xue, Xinyue Hou, Hongen Xu, Xinghua Zhao, Yongan Tian, Wenxue Tang, Jiancheng Guo, Changbao Xu   +9 more
doaj   +2 more sources

Efficacy of transurethral cystolithotripsy assisted by percutaneous evacuation and the benefit of genetic analysis in a pediatric cystinuria patient with a large bladder stone

Urology Case Reports, 2021
Cystinuria is an inherited disease, and the defective reabsorption of cysteine causes often requires operations for large urinary stones from childhood.
Tomoki Okada, Kazumi Taguchi, Taiki Kato, Shinichi Sakamoto, Tomohiko Ichikawa, Takahiro Yasui   +5 more
doaj   +2 more sources

CASE REPORT OF A PATIENT WITH CYSTINURIA

Slovenska pediatrija, 2020
Cystinuria is a rare genetic disease characterised by the appearance of kidney stones. Clinically, it is manifested by renal pain, fever or haematuria. In untreated patients, stones may cause urinary tract obstruction and endanger the kidney.
Matej Kemperle, Robert Kordič, Rina Rus
doaj   +2 more sources

Genetic and clinical characteristics of Japanese cystinuria with exon and exon–intron boundary variants [PDF]

Scientific Reports
Cystinuria is the most common genetic cause of urinary stones. Defects in SLC3A1/SLC7A9 genes coding cystine transporter proteins rBAT/b0,+AT will cause Cystinuria. The current work analyzed the clinical and genetic characteristics of Japanese Cystinuria
Shinichi Sakamoto, Yukio Naya, Junryo Rii, Kazumi Taguchi, Masaaki Fujimura, Yasuhiro Shigeta, Arthit Chairoungdua, Motoi Nishimura, Ken Wakai, Yasutaka Yamada, Xue Zhao, Yusuke Imamura, Sawako Tajima, Natsumi Sato, Chiaki Hosaka, Mizuka Sekine, Takeshi Ueda, Shuzo Hamamoto, Takahiro Yasui, Yoshikatsu Kanai, Koichiro Akakura, Yuzuru Ikehara, Naohiko Anzai, Tomohiko Ichikawa   +23 more
doaj   +2 more sources

Partial correction of cystinuria type A in mice via kidney-targeted transposon delivery [PDF]

Molecular Therapy: Nucleic Acids
We used kidney-targeted, non-viral, transposon-mediated gene delivery to express the mouse Slc3a1 transgene in one kidney of cystinuria type A (Slc3a1−/−) mice.
Lauren E. Woodard, Richard C. Welch, Anna Menshikh, Wentian Luo, Felisha M. Williams, Jennifer L. Peek, Feng Sha, Ruth Ann Veach, Aparna Kaja, Thomas M. Beckerman, Talat Alp Ikizler, Matthew H. Wilson   +11 more
doaj   +2 more sources

Urinary Cystine/Creatinine Concentrations Before and After Castration in Dogs With Suspected Androgen‐Dependent Cystine Urolithiasis [PDF]

Journal of Veterinary Internal Medicine
Background Androgen‐dependent cystinuria has been described in intact male dogs. Castration has been recommended to reduce urinary cystine excretion. Hypothesis/Objectives Urinary cystine/creatinine concentration will significantly decrease in dogs with ...
Jennifer A. Larsen, Sean E. Hulsebosch, Jeffrey Fine, Eric G. Johnson, Jully Pires, Paula S. Henthorn, Jodi L. Westropp   +6 more
doaj   +2 more sources