Results 111 to 120 of about 2,061,243 (253)

Paternal UPD (15) With Disease-Causing Mutation and Small Supernumerary Ring Chromosome 15: A Case Report

Case Reports in Genetics
Uniparental disomy (UPD) constitutes an unconventional mode of inheritance that disrupts the typical biparental genetic contribution and may result in phenotypic abnormalities.
David Lee Curtis, Nasim Bekheirnia, Lorraine Potocki, Ludmila Matyakhina, Mir Reza Bekheirnia   +4 more
doaj   +1 more source

Genetic screening for Bartter syndrome and Gitelman syndrome pathogenic genes among individuals with hypertension and hypokalemia

Clinical and experimental hypertension, 2018
Purpose: Bartter syndrome (BS) and Gitelman syndrome (GS) are hereditary diseases characterized by hypokalemia with decreased or normal blood pressure (BP).
Minghui Bao, Jun Cai, Xin-chun Yang, Wenjun Ma   +3 more
semanticscholar   +1 more source

Anaesthesia for laparoscopic cholecystectomy in Bartter′s syndrome

Indian Journal of Anaesthesia, 2010
Bartter′s syndrome is a rare inherited anamoly with defect in the thick segment of the ascending limb of the loop of Henle, with reduced reabsorption of potassium.
Bala S Bhaskar, G V Rao, Sanjeev B Joshi, S K Arun, S K Ajay   +4 more
doaj   +1 more source

Nineteen novel NPHS1 mutations in a worldwide cohort of patients with congenital nephrotic syndrome (CNS) [PDF]

, 2017
Background. Recessive mutations in the NPHS1 gene encoding nephrin account for ∼40% of infants with congenital nephrotic syndrome (CNS). CNS is defined as steroid-resistant nephrotic syndrome (SRNS) within the first 90 days of life.
Ashraf, Shazia, Bockenhauer, Detlef, Chernin, Gil, Heeringa, Saskia F., Held, Susanne, Hildebrandt, Friedhelm, Kari, Jameela A., MacDonald, James, Matejas, Verena, Moorani, Khemchand N., Neuhaus, Thomas J., Ovunc, Bugsu, Saisawat, Pawaree, Schoeb, Dominik S., Vega-Warner, Virginia, Vlangos, Christopher N., Zenker, Martin   +16 more
core  

Renal phosphate handling in Gitelman syndrome—the results of a case-control study [PDF]

, 2018
Background: Patients with Gitelman syndrome, a hereditary salt-wasting tubulopathy, have loss-of-function mutations in the SLC12A3 gene coding for the thiazide-sensitive sodium chloride co-transporter in the distal convoluted tubule.
Albisetti, Walter, Amoruso, Chiara, Barretta, Francesco, Bettinelli, Alberto, Bianchetti, Mario, Minnici, Giuseppe, Syrèn, Marie-Louise, Viganò, Cristina   +7 more
core  

Classic Bartter syndrome complicated with profound growth hormone deficiency: a case report [PDF]

, 2013
INTRODUCTION: Classic Bartter syndrome is a salt-wasting tubulopathy caused by mutations in the CLCNKB (chloride channel Kb) gene. Although growth hormone deficiency has been suggested as a cause for persistent growth failure in patients with classic ...
Koji Muroya, Masanori Adachi, Toshihiro Tajima, Yumi Asakura   +3 more
core   +1 more source

Pleiotropic Effects of the NSAID Fenamates on Chloride Channels: Opportunity for Ion Channelopathies?

Pharmacology Research &Perspectives, Volume 13, Issue 4, August 2025.
ABSTRACT Chloride channels are involved in many cellular processes, including cell volume regulation, modulation of cell excitability, and electrolyte and water secretion. Mutations of these proteins are associated with heterogeneous diseases such as myotonia, cystic fibrosis, epilepsy, deafness, lysosomal storage disease, and various kinds of renal ...
Paola Laghetti, Ilaria Saltarella, Simone Dell'Atti, Jean‐François Desaphy, Concetta Altamura   +4 more
wiley   +1 more source

Mutation spectrum of Chinese patients with Bartter syndrome

OncoTarget, 2017
Objective Bartter syndrome (BS) has been rarely reported in Chinese population except for a few case reports. This investigation was aimed to analyze the mutations of the causal genes in sixteen Chinese patients with BS, and review their followup and ...
Yue Han, Yi Lin, Q. Sun, Shujuan Wang, Yanxia Gao, L. Shao   +5 more
semanticscholar   +1 more source

Endoplasmic reticulum–associated degradation of the renal potassium channel, ROMK, leads to type II Bartter syndrome

Journal of Biological Chemistry, 2017
Type II Bartter syndrome is caused by mutations in the renal outer medullary potassium (ROMK) channel, but the molecular mechanisms underlying this disease are poorly defined.
Brighid M. O'Donnell, T. Mackie, Arohan R. Subramanya, J. Brodsky   +3 more
semanticscholar   +1 more source

Bartter Syndrome in the Practice of a Nephrologist (Case Report)

Počki, 2015
The article describes the issues of pathogenesis, clinic and treatment of the syndrome of Bartter on the example of clinical case.
O. Taran, S. Rotova et all
doaj   +1 more source