Results 61 to 70 of about 1,154 (162)
Management of isolated abnormal amniotic fluid volume in pregnancy
The Obstetrician &Gynaecologist, Volume 28, Issue 1, Page 41-50, January 2026.Key content Amniotic fluid volume (AFV) is a vital measurement in the determination of fetal well‐being by means of ultrasound. There are many factors that determine AFV and, in many cases, complications affecting the fetus may manifest through change in its value.
Abigail O. Falola +3 more
wiley +1 more source
Case Reports in Genetics, Volume 2026, Issue 1, 2026.Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder caused by pathogenic variants in the fibrillin‐1 (FBN1) gene on Chromosome 15q21.1. A 3‐year‐old female presented to the clinic with MFS and a family history of an affected maternal uncle and maternal great‐aunt.
Breanna Beers +3 more
wiley +1 more source
Recurrent Nephrolithiasis and Beyond: The Long Diagnostic Odyssey of a Case of CLDN16 Mutation
Clinical Case Reports, Volume 13, Issue 12, December 2025.ABSTRACT Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis (FHHNC) is a rare tubulopathy resulting from mutations in the CLDN16 and CLDN19 genes. The affected individuals commonly present with polyuria, polydipsia, excessive urinary magnesium (Mg) and calcium (Ca) wasting, nephrocalcinosis, nephrolithiasis, recurrent urinary tract ...
Abdullah Al Noman Bhuiyan +4 more
wiley +1 more source
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
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 +7 more
core
Gitelman’s syndrome presented with tetany: a case report
IMC Journal of Medical Science, 2012 Gitelman’s syndrome is an autosomal recessive disorder caused by a defect of the thiazide-sensitive sodium chloride co-transporter at the distal tubule, characterized by hypomagnesemia, hypokalemic alkalosis and hypocalciuria. We report a case of Gitlman’
Md. Zahid Alam +5 more
doaj
Frontiers in Behavioral NeuroscienceThe cerebellum is critically involved in both motor coordination and affective regulation, and growing evidence suggests that cerebellar dysfunction contributes to neuropsychiatric disorders.
Jacopo Agrimi +12 more
doaj +1 more source
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
Structurally simple lipid bilayer transport agents for chloride and bicarbonate [PDF]
, 2011 A new series of structurally simple compounds containing thiourea groups have been shown by a combination of ion-selective electrode and 13C NMR techniques to be potent chloride-bicarbonate exchange agents that function at low concentration in POPC and ...
Amendola +69 more
core +1 more source
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