Results 1 to 10 of about 2,192 (190)

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   +6 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   +4 more sources

Serum lncRNAs TUG1, H19, and NEAT1 and their target miR-29b/SLC3A1 axis as possible biomarkers of preeclampsia: Potential clinical insights [PDF]

Non-coding RNA Research
To date, the epigenetic signature of preeclampsia (PE) is not completely deciphered. Oxidative stress-responsive long non-coding RNAs (lncRNAs) are deregulated in preeclamptic placenta; however, their circulating profiles and diagnostic abilities are ...
Mahmoud A. Senousy, Olfat G. Shaker, Ahmed H.Z. Elmaasrawy, Ahmed M. Ashour, Shuruq E. Alsufyani, Hany H. Arab, Ghada Ayeldeen   +6 more
doaj   +4 more sources

Declaration: Novel SLC3A1 mutation in a cystinuria patient with xanthine stones: a case report [PDF]

BMC Urology, 2023
Background Cystinuria and xanthinuria are both rare genetic diseases involving urinary calculi. However, cases combining these two disorders have not yet been reported.
Peide Bai, WenZhao Zhang, Longhui Lai, Haichao Huang, Jiaxuan Qin, Bo Duan, Huiqiang Wang, Yuedong Chen, Yuanyuan Jia, Jinchun Xing, Tao Wang, Bin Chen   +11 more
doaj   +4 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

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

Five Novel Mutations in Cystinuria Genes SLC3A1 and SLC7A9 [PDF]

Balkan Journal of Medical Genetics, 2009
Five Novel Mutations in Cystinuria Genes SLC3A1 and SLC7A9Cystinuria is an autosomal recessive disorder that is characterized by impaired transport of cystine, lysine, ornithine and arginine in the proximal renal tubule and epithelial cells of the gastrointestinal tract. The transport of these amino acids is mediated by the rBAT/b0,+AT transporter, the
Popovska-Jankovic K, Tasic V, Bogdanovic R, Miljkovic P, Baskin E, Efremov G, Plaseska-Karanfilska D   +6 more
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

Cysteine transporter SLC3A1 promotes breast cancer tumorigenesis [PDF]

Theranostics, 2017
Cysteine is an essential amino acid for infants, aged people as well as patients with metabolic disorders. Although the thiol group of cysteine side chain is active in oxidative reactions, the role of cysteine in cancer remains largely unknown. Here, we report that the expression level of the solute carrier family 3, member 1 (SLC3A1), the cysteine ...
Yang Jiang, Wei Li, Xiaoling Li
exaly   +3 more sources

Identification of five novel SLC3A1 (rBAT) gene mutations in Japanese cystinuria [PDF]

Kidney International, 2000
Identification of five novel SLC3A1 (rBAT) gene mutations in Japanese cystinuria.Cystinuria is an inheritable amino aciduria and has been classified into three subtypes: I, II, and III. One of the genes responsible for cystinuria has recently been identified as SLC3A1 or rBAT, but only type I cystinuria seems to be caused by genetic alterations in rBAT.
Egoshi, Ken-Ichi, Akakura, Koichiro, Kodama, Takaomi, Ito, Haruo   +3 more
exaly   +3 more sources