Case Reports in GeneticsUniparental disomy (UPD) constitutes an unconventional mode of inheritance that disrupts the typical biparental genetic contribution and may result in phenotypic abnormalities.
David Lee Curtis +4 more
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Caractérisation des canaux potassiques du tubule contourné proximal et des propriétés régulatrices des canaux chlorure de la membrane basolatérale des cellules intercalaires du tubule connecteur [PDF]
, 2015 A 10 pS chloride channel at the basolateral side of connecting duct intercalated cells shares properties with the cloned ClC-K2 channel. Patch-clamp experiments show that its activity and the number of active channels increase with (i) membrane ...
Pinelli, Laurent
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Familial hypomagnesaemia, Hypercalciuria and Nephrocalcinosis associated with a novel mutation of the highly conserved leucine residue 116 of Claudin 16 in a Chinese patient with a delayed diagnosis: A case report [PDF]
, 2018 Background: Sixty mutations of claudin 16 coding gene have been reported in familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) patients. Recent investigations revealed that a highly conserved glycine-leucine-tryptophan (115G-L-W117)
Bottillo, I +5 more
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Familial Hypomagnesemia With Hypercalciuria and Nephrocalcinosis in a 7‐Year‐Old Girl: A Case Report
Clinical Case Reports, Volume 13, Issue 12, December 2025.ABSTRACT Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is a rare autosomal recessive renal tubular disorder, caused by mutations in the Claudin‐16 or Claudin‐19 genes. It is characterized by renal wasting of calcium and magnesium, bilateral nephrocalcinosis, and progression to kidney failure eventually.
Rummana Tazia Tonny +3 more
wiley +1 more source
Acquired Bartter Syndrome in Primary Sjögren Syndrome
Saudi Journal of Kidney Diseases and Transplantation, 2020 Renal tubular involvement in Sjögren's syndrome (SS) often described with renal tubular acidosis, nephrogenic diabetes insipidus, or rarely with Fanconi syndrome.
Aya Fraj +6 more
doaj +1 more source
Clinical and molecular features of thiazide-induced hyponatremia [PDF]
, 2018 Hypertension affects more than 30% of the world’s adult population and thiazide (and thiazide-like) diuretics are amongst the most widely used, effective and least costly treatments available, with all-cause mortality benefits equivalent to ACE ...
Channavajjhala, Sarath K. +5 more
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A large‐scale evolutionary and structural analysis of CLC channels and transporters
Protein Science, Volume 34, Issue 12, December 2025.Abstract The CLC family of membrane proteins consists of chloride channels and anion/proton antiporters. How the same fold accommodates two distinct mechanisms remains poorly understood, and the small set of experimental structures provides limited insight.
Ayush Mishra +2 more
wiley +1 more source
Current Issues in Molecular BiologyBartter syndrome (BS) represents a group of rare, autosomal recessive renal tubular disorders characterized by hypokalemic hypochloremic metabolic alkalosis, secondary hyperaldosteronism, and normal to low blood pressure.
Lina Zhu, Yang Li, Yiyao Bao
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Molecular Characterization of A Novel Mutation In The Renal NaCl Cotransporter Causing Gitelman's Syndrome By Impairing Transporter Trafficking [PDF]
, 2017 Mutations affecting the sodium-chloride cotransporter (NCC) in the distal convoluted tubule of the nephron are causative of Gitelman's syndrome (GS), a rare autosomal recessive disease characterized by electrolytic alterations similar to those induced by
Ravarotto, Verdiana
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The Concise Guide to PHARMACOLOGY 2025/26: G protein‐coupled receptors
British Journal of Pharmacology, Volume 182, Issue S1, Page S24-S151, December 2025.The Concise Guide to Pharmacology 2025/26 marks the seventh edition in this series of biennial publications in the British Journal of Pharmacology. Presented in landscape format, the guide provides a comparative overview of the pharmacology of drug target families. The concise nature of the Concise Guide refers to the style of presentation, being clear,
Stephen P. H. Alexander +206 more
wiley +1 more source