Results 51 to 60 of about 1,500 (175)

SLC3A1 and SLC7A9 mutations in autosomal recessive or dominant canine cystinuria: a new classification system [PDF]

, 2013
Cystinuria, one of the first recognized inborn errors of metabolism, has been reported in many dog breeds. The objective was to determine urinary cystine concentrations, inheritance and mutations in the SLC3A1 and SLC7A9 genes associated with cystinuria ...
Brons, Ann-Kathrin
core   +1 more source

Cystinuria: an inborn cause of urolithiasis

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   +1 more source

Clinical Course and Mutational Analysis of Patients with Cystine Stone: A Single-Center Experience

Biomedicines, 2023
Cystinuria is a known genetic disorder. To date, two genes, SLC3A1 and SLC7A9, have been identified as causes of cystinuria. In this study of 10 patients with cystinuria, which is the largest Korean cohort ever studied, we examined the patients ...
Jae Yong Jeong, Kyung Jin Oh, Jun Seok Sohn, Dae Young Jun, Jae Il Shin, Keum Hwa Lee, Joo Yong Lee   +6 more
doaj   +1 more source

An overview of SLC3A1 and SLC7A9 mutations in Greek cystinuria patients

Molecular Genetics and Metabolism, 2008
Mol Genet ...
Chatzikyriakidou, A., Louizou, E., Dedousis, G. V., Bisceglia, L., Michelakakis, H., Georgiou, I.   +5 more
openaire   +3 more sources

Stages of stone development. [PDF]

, 2022
(A) μCT imaging and 3D modeling of in vivo cystine stone development in a representative Slc3a1-/- mouse. (B) μCT imaging and 3D modeling of urinary stone growth in an individual Slc3a1-/- mouse. Stone formation often initiates as sediment in the bladder
Tiffany Zee (738230), Birgit Schilling (31153), Pierre-Yves Desprez (253324), Pankaj Kapahi (190921), Cameron Wehrfritz (12981893), Neelanjan Bose (189213), Jacob Rose (12981890), Marshall Stoller (12491026), Nathan Basisty (343839)   +8 more
core   +1 more source

Associating mutations causing cystinuria with disease severity with the aim of providing precision medicine

BMC Genomics, 2017
Background Cystinuria is an inherited disease that results in the formation of cystine stones in the kidney, which can have serious health complications.
Henry J. Martell, Kathie A. Wong, Juan F. Martin, Ziyan Kassam, Kay Thomas, Mark N. Wass   +5 more
doaj   +1 more source

Differential uptake of arginine derivatives by the human heteromeric amino acid transporter b^0,+AT-rBAT (SLC7A9-SLC3A1). [PDF]

Naunyn Schmiedebergs Arch Pharmacol
L-arginine and its (patho-)physiologically active derivatives, L-homoarginine and asymmetric dimethylarginine (ADMA), show significant differences in their renal clearance.
Banjarnahor S, Scherpinski LA, Keller M, König J, Maas R.   +4 more
europepmc   +3 more sources

Molecular mechanism of nutrient uptake in developing embryos of oviparous cloudy catshark (Scyliorhinus torazame).

PLoS ONE, 2022
Forms of embryonic nutrition are highly diverse in cartilaginous fishes, which contain oviparity, yolk-sac viviparity and several types of matrotrophic viviparity (histotrophy, oophagy, and placentotrophy). The molecular mechanisms of embryonic nutrition
Yuki Honda, Nobuhiro Ogawa, Marty Kwok-Shing Wong, Kotaro Tokunaga, Shigehiro Kuraku, Susumu Hyodo, Wataru Takagi   +6 more
doaj   +3 more sources

Analysis of chronic kidney disease patients by targeted next-generation sequencing identifies novel variants in kidney-related genes

Frontiers in Genetics, 2022
Despite the enormous economic and societal burden of chronic kidney disease (CKD), its pathogenesis remains elusive, impeding specific diagnosis and targeted therapy. Herein, we sought to elucidate the genetic causes of end-stage renal disease (ESRD) and
Manal Alaamery, Manal Alaamery, Manal Alaamery, Jahad Alghamdi, Salam Massadeh, Salam Massadeh, Salam Massadeh, Mona Alsawaji, Nora Aljawini, Nora Aljawini, Nora Aljawini, Nour Albesher, Nour Albesher, Bader Alghamdi, Mansour Almutairi, Fayez Hejaili, Fayez Hejaili, Majid Alfadhel, Batoul Baz, Bader Almuzzaini, Adel F. Almutairi, Mubarak Abdullah, Francisco J. Quintana, Abdullah Sayyari, Abdullah Sayyari, Abdullah Sayyari   +25 more
doaj   +1 more source

Amino acid homeostasis in the kidney: Physiological roles and pathological dysregulation

Physiological Reports, Volume 14, Issue 15, August 2026.
Abstract Amino acids are fundamental to life as protein building blocks and key regulators of metabolism and signaling. The kidney plays a critical, yet underappreciated, role in amino acid homeostasis through three interconnected pillars: selective glomerular filtration, efficient tubular reabsorption, and metabolic processing, which includes de novo ...
Shuo Liu, Caifeng Shi, Yang Zhou, Chunsun Dai   +3 more
wiley   +1 more source