Results 61 to 70 of about 6,243 (172)
Journal of Clinical Laboratory Analysis, Volume 40, Issue 1, January 2026.We identified a novel c.1023_1029del (p.Asp342ArgfsTer54) frameshift variant in the HOMER2 gene that causes ADNSHL in a Chinese family with progressive, post‐lingual sensorineural hearing loss. The c.1023_1029del variant deletes 7 nucleotides, leading to an extended incorrect protein C terminus and marks the sixth pathogenic (or likely pathogenic ...
Li‐Ting Peng +9 more
wiley +1 more source
Pediatric Transplantation, Volume 30, Issue 1, January 2026.AB0‐incompatible kidney transplantation in children can be performed with excellent results. Midterm outcome of AB0 incompatible KTx was not inferior to that of AB0 compatible KTx. Graft survival and graft function were comparably good in both groups. There was no increase in infectious complications or malignancies with AB0i KTx.
Christina Taylan +4 more
wiley +1 more source
Adult presentation of Bartter syndrome type IV with erythrocytosis
Einstein (São Paulo)Bartter syndrome comprises a group of rare autosomal-recessive salt-losing disorders with distinct phenotypes, but one unifying pathophysiology consisting of severe reductions of sodium reabsorption caused by mutations in five genes expressed in the ...
Ita Pfeferman Heilberg +2 more
doaj +1 more source
Les WNK kinases et les effets de WNK3 sur l'activité du canal ENaC [PDF]
, 2014 Les WNK kinases sont une famille de sérine/thréonine protéines kinases, des enzymes capables de phosphoryler le résidu OH de sérine ou thréonine. Quatre membres (WNK 1-4) ont été identifiés, largement distribués dans les cellules et tissus des ...
BATTIG, F.
core
Renovascular hypertension: a case with atypical neurological signs [PDF]
, 2015 Secondary hypertension is the most frequent form of hypertension in children. Renovascular disease accounts for 5-10% of all childhood hypertension and should be suspected in the presence of severe hypertension found difficult to manage with medical ...
Dionísio, T +3 more
core +1 more source
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
Mouse Models of Human Claudin-Associated Disorders: Benefits and Limitations [PDF]
, 2019 In higher organisms, epithelia separate compartments in order to guarantee their proper function. Such structures are able to seal but also to allow substances to pass.
Fernández-Rodríguez, Cármen +3 more
core +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
Canalopatias em endocrinologia: achados genéticos recentes e fisiopatologia [PDF]
, 2010 Ion channels serve diverse cellular functions, mainly in cell signal transduction. In endocrine cells, these channels play a major role in hormonal secretion, Ca2+-mediated cell signaling, transepithelial transport, cell motility and growth, volume ...
Chiamolera, Maria Izabel +7 more
core +2 more sources
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