Results 41 to 50 of about 6,631 (231)

Gene Dosage Sensitivity and Human Genetic Diseases. [PDF]

J Inherit Metab Dis
ABSTRACT 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

Diversity of Phenotype and Genetic Etiology of 23 Cystinuria Saudi Patients: A Retrospective Study

Frontiers in Pediatrics, 2020
Background: Cystinuria is an inborn error of metabolism that manifests with renal stones due to defective renal epithelial cell transport of cystine which resulted from pathogenic variants in the SLC3A1 and/or SLC7A9 genes. Among nephrolithiasis diseases,
Malak Alghamdi, Khalid A. Alhasan, Areej Taha Elawad, Suha Salim, Marwa Abdelhakim, Marwan Nashabat, Rupesh Raina, Jameela Kari, Majid Alfadhel, Majid Alfadhel   +9 more
doaj   +1 more source

Dietary treatment of urinary risk factors for renal stone formation. A review of CLU Working Group [PDF]

, 2015
OBJECTIVE: Diet interventions may reduce the risk of urinary stone formation and its recurrence, but there is no conclusive consensus in the literature regarding the effectiveness of dietary interventions and recommendations about specific diets for ...
Bianchi, G, Borghi, L, Caione, P, Carini, M, Caudarella,, Ferraro, Pietro Manuel (ORCID:0000-0002-1379-022X), Gambaro, Giovanni (ORCID:0000-0001-5733-2370), Gelosa, M, Guttilla, A, Illiano, E, Lotti, T, Martino, M, Meschi, T, Messa, P, Miano, R, Napodano, G, Nouvenne, A, P. M.,, Prezioso, D, Rendina, D, Rocco, F, Rosa, M, Salerno, A, Sanseverino, R, Spatafora, S, Strazzullo, P, Tasca, A, Ticinesi, A, Travaglini, F, Trinchieri, A, Vespasiani, G, Zattoni, F.   +31 more
core   +2 more sources

A Novel Variant in Iranian Patient with Cystinuria: A Case Report

Iranian Journal of Public Health, 2021
Cystinuria is an autosomal recessive disorder in which the renal reabsorption of cystine, arginine, lysine and ornithine are disturbed. The two genes, the pathogenic forms of which are responsible for the disorder, are SLC7A9 and SLC3A1.
Ali Mardi, Hamed Heidary, Seyyed Mohammad Mousavi, Ghasem Khazaei, Eskandar Taghizadeh   +4 more
doaj   +1 more source

Inborn errors of metabolism: a clinical overview [PDF]

, 1999
CONTEXT: Inborn errors of metabolism cause hereditary metabolic diseases (HMD) and classically they result from the lack of activity of one or more specific enzymes or defects in the transportation of proteins.
Martins, Ana Maria
core   +4 more sources

CYSTINURIA

Journal of Biological Chemistry, 1937
Erwin Brand, Richard J. Block, Beatrice Kassell, George F. Cahill   +3 more
openaire   +2 more sources

Extracorporeal Shockwave Lithotripsy for Cystine Stones in Children: An Observational, Retrospective, Single-Center Analysis

Frontiers in Pediatrics, 2021
Purpose: Cystinuria is a genetic disorder characterized by a defective reabsorption of cystine and dibasic amino acids leading to development of urinary tract calculi from childhood onward. Cystine lithiasis is known to be resistant to fragmentation. The
Nicolas Vinit, Antoine Khoury, Pauline Lopez, Laurence Heidet, Laurence Heidet, Nathalie Botto, Olivier Traxer, Olivier Traxer, Olivier Traxer, Olivia Boyer, Olivia Boyer, Olivia Boyer, Thomas Blanc, Thomas Blanc, Thomas Blanc, Henri B. Lottmann   +15 more
doaj   +1 more source

Alkyl substituted cucurbit[6]uril assisted competitive fluorescence recognition of lysine and methionine in aqueous solution [PDF]

, 2017
The use of competitive ratiometric fluorescence indicator displacement chemosensors derived from two alkyl substituted cucurbit[6]uril-based host-guest complexes is reported.
Bai, Qinghong, Chen, Hongrong, Ni, Xin-Long, Redshaw, Carl, Sun, Tao, Tao, Zhu, Wei, Gang, Zhang, Jian-Xin, Zhang, Shaowei   +8 more
core   +1 more source

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, Majid Kheirollahi, Abbas Doosti, Mehrdad Mohammadi   +3 more
doaj   +1 more source

Clinical profile of a Polish cohort of children and young adults with cystinuria

Renal Failure, 2021
Background Cystinuria is an inherited disorder that results in increased excretion of cystine in the urine. It accounts for about 1–2% of pediatric kidney stones.
Marcin Tkaczyk, Katarzyna Gadomska-Prokop, Iga Załuska-Leśniewska, Kinga Musiał, Jan Zawadzki, Katarzyna Jobs, Tadeusz Porowski, Anna Rogowska-Kalisz, Anna Jander, Merit Kirolos, Adam Haliński, Aleksandra Krzemień, Aleksandra Sobieszczańska-Droździel, Katarzyna Zachwieja, Bodo B. Beck, Przemysław Sikora, Marcin Zaniew   +16 more
doaj   +1 more source