Results 81 to 90 of about 6,103 (223)
CRISPR/Cas9 engineering of albino cystinuria Type A mice
Genesis, 2020 Cystinuria Type A is a relatively common genetic kidney disease occurring in 1 in 7,000 people worldwide that results from mutation of the cystine transporter rBAT encoded by Slc3a1.
Thomas M. Beckermann +7 more
semanticscholar +1 more source
Journal of Biological ResearchCystinuria is a complex autosomal recessive inherited disorder found in approximately one out of 7000 births. The disease affects the renal tubular reabsorption of certain filtered amino acids, i.e., cystine, lysine, arginine and ornithine. Owing to the
A. Berio, A. Piazzi
doaj +1 more source
Investigating Potential Therapies to Decrease the Rate of Cystine Stone Growth in Slc3a1-/- Mice [PDF]
, 2015 Cystinuria is an autosomal recessive disorder characterized by a defective renal transporter involved in the reabsorption of cystine and other dibasic amino acids. This leads to an accumulation of cystine in the urine, resulting in cystine stones.
Damodar, Sruthi
core +1 more source
Non-contrast computed tomography characteristics in a large cohort of cystinuria patients
World journal of urology, 2020 Purpose Cystine stones are widely considered hard and difficult to treat. Hounsfield Units (HU) are used in other stone types to estimate ‘hardness’ and treatments based on that finding.
H. Warren +6 more
semanticscholar +1 more source
In vitro assessment of antimicrobial, antioxidant, and cytotoxic properties of Saccharin-Tetrazolyl and-Thiadiazolyl derivatives: the simple dependence of the pH value on antimicrobial activity [PDF]
, 2019 The antimicrobial, antioxidant, and cytotoxic activities of a series of saccharin-tetrazolyl and -thiadiazolyl analogs were examined. The assessment of the antimicrobial properties of the referred-to molecules was completed through an evaluation of ...
Andrade, Joana M. +9 more
core +1 more source
Inherited epithelial transporter disorders—an overview [PDF]
, 2018 Summary: In the late 1990s, the identification of transporters and transporter-associated genes progressed substantially due to the development of new cloning approaches such as expression cloning and, subsequently, to the implementation of the human ...
Bergeron, M. +3 more
core
Nephrolithiasis related to inborn metabolic diseases [PDF]
, 2009 Nephrolithiasis associated with inborn metabolic diseases is a very rare condition with some common characteristics: early onset of symptoms, family history, associated tubular impairment, bilateral, multiple and recurrent stones, and association with ...
A Pahari +42 more
core +2 more sources
Urolithiasis, 2019 Higher blood pressures (mean systolic difference 16.8 mmHg) when compared to matched individuals are already reported in patients with calcium urolithiasis.
F. Kum +4 more
semanticscholar +1 more source
Evidence Based Practice in Pediatric Urolithiasis [PDF]
, 2013 Nephrolithiasis is an increasing problem in children. Due to the different presentations and etiology of this disease in children compared with adults, we decided to perform an extensive search to find trials and arrange an evidence based study in this ...
Hoseini, Rozita, Otukesh, Hasan
core +2 more sources