Results 71 to 80 of about 7,281,051 (191)
Deciphering the Impact of RAC1‐SPTAN1 in ARPKD Cystogenesis Using Multifaceted Models
Advanced Science, Volume 13, Issue 25, 4 May 2026.Distal/connecting tubules expressing SLC8A1 have been suggested as a potential origin of ARPKD cysts. SPTAN1 has been identified as a key molecule in ARPKD cyst formation. Restoring SPTAN1 in PKHD1−/− organoids reduced cyst formation, normalized calcium levels, and decreased RAC1/c‐FOS expression, highlighting SPTAN1's role in ARPKD and the potential ...
Shohei Kuraoka +9 more
wiley +1 more source
Rol de variantes genéticas en el desarrollo de Enfermedad Renal Crónica en pacientes con Diabetes Mellitus Tipo 2 [PDF]
, 2018 La Enfermedad Renal Crónica (ERC) es una afección que perjudica a un gran número de pacientes. Una de las causas es la Nefropatía en pacientes con Diabetes Mellitus Tipo 2 (DM2).Objetivo: Indagar si la presencia de variantes genéticas contribuyen al ...
Ojeda, Verónica +3 more
core +1 more source
Detection of prostate cancer-specific transcripts in extracellular vesicles isolated from post-DRE urine [PDF]
, 2017 Background: The measurement of gene expression in post-digital rectal examination (DRE) urine specimens provides a non-invasive method to determine a patient’s risk of prostate cancer.
Clark, Jeremy +9 more
core +1 more source
Gitelman syndrome combined with complete growth hormone deficiency [PDF]
Annals of Pediatric Endocrinology & Metabolism, 2013 Gitelman syndrome is a rare autosomal recessive hereditary salt-losing tubulopathy, that manifests as hypokalemic metabolic alkalosis, hypomagnesemia, and hypocalciuria.
Se Ra Min +4 more
doaj +1 more source
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
Український Журнал Нефрології та Діалізу, 2023 Gitelman syndrome is a rare autosomal recessive renal tubular disease characterized by hypokalemia, metabolic alkalosis, and hypocalciuria. The syndrome develops as a result of various mutations in the SLC12A3 gene. This manuscript aims to highlight the
Melya Pelin Kırık, Can Hüzmeli
doaj +1 more source
[From gene to disease; mutations in the SLC12A3 gene as the cause of Gitelman's syndrome]. [PDF]
Nederlands tijdschrift voor geneeskunde, 2005 Contains fulltext : 47957.pdf (Publisher’s version ) (Open Access)
Cornelissen, E.A.M. +3 more
openaire +2 more sources
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
Il Gene del cotrasportatore NaCl tiazide-sensibile è associato con l'attività reninica plasmatica e l'effetto antiipertensivo dei diuretici tiaridici nell'ipertensione arteriosa essenziale [PDF]
, 2009 Essential hypertension originates from gene-environment interaction. Thiazide diuretics play a key role in the treatment of essential hypertension.
Pitzoi, Silvia
core
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