Results 1 to 10 of about 1,500 (175)

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   +6 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.
Guofeng Xu, Yuting Guan, Yongdong Pan
exaly   +6 more sources

Heterogeneous mutations in the SLC3A1 and SLC7A9 genes in Chinese patients with cystinuria [PDF]

Kidney International, 2006
Cystinuria is a recessively inherited aminoaciduria that leads to recurrent urolithiasis. It is caused by the defective transport of cystine and dibasic amino acids in the proximal renal tubules and intestinal epithelium. Two genes responsible for this, SLC3A1 and SLC7A9, are known. Patients with two SLC3A1 mutations are classified as type A cystinuria,
S Tam
exaly   +7 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 ...
Ahmed Ashour, , Hany Arab
exaly   +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

Composite Phenotype: Recurrent Nephrolithiasis and Chronic Kidney Disease in an Adult with Biallelic <italic>SLC34A3</italic> and Monoallelic <italic>SLC3A1</italic> Pathogenic Variants – Who Is “The Culprit”?

Kidney & Blood Pressure Research
Introduction: Kidney stones are common and can arise from many etiologies including genetic and environmental. Biallelic pathogenic variants in the solute carrier family 34-member 3 (SLC34A3) gene cause hereditary hypophosphatemic rickets with
Bukola A. Olarewaju, Sonia Sabrowsky, Shaymaa Shurrab, Ann M. Moyer, Mira T. Keddis, Mayowa A. Osundiji   +5 more
doaj   +2 more sources

Genetic and Clinical Analyses of 13 Chinese Families With Cystine Urolithiasis and Identification of 15 Novel Pathogenic Variants in SLC3A1 and SLC7A9

Frontiers in Genetics, 2020
BackgroundCystinuria is a rare genetic disorder characterized by defective renal reabsorption of cystine, ornithine, arginine, and lysine. The increased urinary excretion of cystine results in the development of cystine urolithiasis (CU).
Liping Li, Yu Zheng, Yongjia Yang
exaly   +3 more sources