Results 11 to 20 of about 6,550 (239)
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 +7 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 +2 more
doaj +2 more sources
Transient neonatal cystinuria [PDF]
Kidney International, 2005 Cystinuria is an inherited disorder of luminal reabsorptive transport for cystine and dibasic amino acids in the renal proximal tubule. Two cystinuria genes have been identified. Mutations of SLC7A9, which encodes the luminal transport channel itself, tend to be dominant and mutations of SLC3A1 (rBAT), which encodes a transporter subunit, are always ...
Rima Rozen +3 more
openaire +4 more sources
Report of SLC3A1/rBAT gene mutations in Iranian cystinuria patients: A direct sequencing study
Journal of Research in Medical Sciences, 2017 Background: Considering a few studies on the genetic basis of the cystinuria in the Middle East and the population-specific distribution of mutations in the SLC3A1, we tried to find genetic variants in three exons (1, 3, and 8) of SLC3A1.
Samaneh Markazi +3 more
doaj +2 more sources
Metabolic consequences of cystinuria [PDF]
BMC Nephrology, 2019 Background Cystinuria is an inherited disorder of renal amino acid transport that causes recurrent nephrolithiasis and significant morbidity in humans. It has an incidence of 1 in 7000 worldwide making it one of the most common genetic disorders in man ...
Lauren E. Woodard +9 more
doaj +4 more sources
Urinary Cystine/Creatinine Concentrations Before and After Castration in Dogs With Suspected Androgen-Dependent Cystine Urolithiasis. [PDF]
J Vet Intern MedABSTRACT 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 suspected androgen‐dependent (Type III) cystinuria after castration and will be associated ...
Larsen JA +6 more
europepmc +2 more sources
Epidemiological Evaluation of Neuter Status, Sex, and Breed in Dogs With Cystine Uroliths. [PDF]
J Vet Intern MedABSTRACT Background The majority of cystine uroliths occur in intact male dogs. Androgen‐dependent (Type III) cystinuria is considered the most common cause. Objectives Identify dog breeds in which castration is likely to decrease the risk of cystine uroliths, the potential effect of delaying castration on cystine urolith formation, and urolith ...
Lulich JP, Ulrich R, Furrow E.
europepmc +2 more sources
Gene Dosage Sensitivity and Human Genetic Diseases. [PDF]
J Inherit Metab DisABSTRACT Here we review the historical background and contemporary insights into genetic dominance, focusing on haploinsufficiency (HI), that is, when the function of only one allele of a gene is not enough to ensure a normal phenotype in a diploid organism.
Veitia RA, Zschocke J, Birchler JA.
europepmc +2 more sources
Cystinuria in Dogs and Cats: What Do We Know after Almost 200 Years?
Animals, 2021 The purpose of this review is to summarize current knowledge on canine and feline cystinuria from available scientific reports. Cystinuria is an inherited metabolic defect characterized by abnormal intestinal and renal amino acid transport in which ...
Simona Kovaříková +2 more
doaj +1 more source