Results 81 to 90 of about 10,292,350 (166)
Pregnancy, Volume 2, Issue 3, May 2026.Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld +5 more
wiley +1 more source
The FASEB Journal, Volume 40, Issue 7, 15 April 2026.Kidney size is sex‐dimorphic and regulated by androgens in adult humans and mice. Male mice lacking the main testosterone‐producing enzyme HSD17B3 had reduced testosterone during a short fetal time window, leading to reduced size of kidneys in adults, which were not responsive to high adult testosterone.
Arttu Junnila +14 more
wiley +1 more source
Cryptic exon activation in SLC12A3 in Gitelman syndrome
, 2017 Gitelman syndrome (GS) is an autosomal recessive renal tubulopathy characterized by hypokalemic metabolic alkalosis with hypocalciuria and hypomagnesemia. GS clinical symptoms range from mild weakness to muscular cramps, paralysis or even sudden death as
Ninchoji, Takeshi +16 more
core +1 more source
Two Brothers from Macedonia with Gitelman Syndrome
Balkan Journal of Medical Genetics, 2023 Gitelman syndrome (GS) is a rare renal tubulopathy with an autosomal recessive mode of inheritance, caused by biallelic pathogenic variants in the SLC12A3 gene.
Janchevska A +8 more
doaj +1 more source
Cellular microenvironment of erythropoietin‐producing cells in hypoxic and injured mouse kidneys
Experimental Physiology, Volume 111, Issue 4, Page 2236-2267, 1 April 2026.Abstract The main sources of circulating erythropoietin (Epo) in the adult are kidney Norn cells, a recently identified interstitial cell type capable of becoming renal Epo‐producing (REP) cells following a local decrease in tissue oxygenation. REP cells are restricted to small clusters in the corticomedullary border region, suggesting that their ...
Olga M. Lempke +3 more
wiley +1 more source
MyGene2 automated match report: SLC12A3
, 2016 MyGene2.org is free, public, searchable & browsable website. Families with rare genetic conditions, clinicians, and researchers families who are interested in sharing health and genetic information can create MyGene2 profiles and use these to connect ...
The MyGene2 team (3237057)
core +1 more source
Case Reports in Pediatrics, 2021 Background. Classical salt-wasting (SW) congenital adrenal hyperplasia (CAH) and Gitelman syndrome (GS) are two genetic conditions in which dyselectrolytemia may occur. No association between the two conditions has been previously described.
Valeria Calcaterra +6 more
doaj +1 more source
Clinical Case Reports, Volume 14, Issue 3, March 2026.ABSTRACT Gitelman syndrome (GS) is a rare autosomal recessive tubulopathy characterized by hypokalemic metabolic alkalosis, hypomagnesemia, and hypocalciuria. A 27‐year‐old woman presented with a witnessed syncopal episode, progressive weakness, and nausea.
Iyassu S. Melkie +5 more
wiley +1 more source
Advanced Science, Volume 13, Issue 7, 3 February 2026.In this study, scRNA‐seq and chemoproteomics are integrated to characterize CDDP‐bound proteins at single‐cell resolution in tumor‐bearing mice. Additionally, the research demonstrates that ICA alleviates CDDP‐induced nephrotoxicity while enhancing its chemotherapeutic efficacy.
Piao Luo +19 more
wiley +1 more source
Gitelman and Bartter Syndrome in a Patient With Morbid Obesity: A Case Report and Literature Review
Clinical Case Reports, Volume 14, Issue 2, February 2026.ABSTRACT We present a case study of a 34‐year‐old man with morbid obesity and a suspected Bartter–Gitelman spectrum tubulopathy (without genetic confirmation), weighing 135 kg, and with a BMI of 42.5 kg/m2, who was referred to the metabolic and bariatric surgery department due to morbid obesity to address abnormal electrolyte levels.
Solmaz Hasani +4 more
wiley +1 more source