Results 81 to 90 of about 23,951 (234)
Clinical Genetics, Volume 109, Issue 1, Page 136-140, January 2026.In a multicenter study of 692 patients with kidney disease, a 44‐gene panel achieved a 36% diagnostic yield. The 36% yield was not significantly lower than with larger panels or whole‐exome sequencing. A post hoc machine‐learning model identified key predictors to stratify patients into four risk bins (11%–74% yield), enabling more cost‐effective ...
Silvia Giovanella +22 more
wiley +1 more source
Distinct roles of transcription factors EGL-46 and DAF-19 in specifying the functionality of a polycystin-expressing sensory neuron necessary for C. elegans male vulva location behavior [PDF]
, 2003 Caenorhabditis elegans polycystins LOV-1 and PKD-2 are expressed in the male-specific HOB neuron, and are necessary for sensation of the hermaphrodite vulva during mating. We demonstrate that male vulva location behavior and expression of lov-1 and pkd-2
Bürglin, Thomas R. +3 more
core +1 more source
Pediatric Research, 2020 Background Autosomal recessive polycystic kidney disease (ARPKD) is a rare but potentially lethal genetic disorder typically characterized by diffuse renal microcysts.
Christina J MacAskill +14 more
semanticscholar +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
Caroli disease, bilateral diffuse cystic renal dysplasia, situs inversus, postaxial polydactyly, and preauricular fistulas: a ciliopathy caused by a homozygous NPHP3 mutation [PDF]
, 2018 We report the rare association of Caroli disease (intrahepatic bile duct ectasia associated with congenital hepatic fibrosis), bilateral cystic renal dysplasia, situs inversus, postaxial polydactyly, and preauricular fistulas in a female child.
Belli, Dominique +10 more
core
TNF-α blockade is ineffective in animal models of established polycystic kidney disease [PDF]
, 2013 BACKGROUND: Given the large medical burden of polycystic kidney disease (PKD) and recent clinical trial failures, there is a need for novel, safe and effective treatments for the disorder.
Jeffrey Roix, Saurabh Saha
core +2 more sources
Frontiers in Pediatrics, 2017 We report a rare case of an 18-month-old female with autosomal recessive polycystic kidney disease, Caroli syndrome, and pure fetal type hepatoblastoma. The liver tumor was surgically resected with no chemotherapy given.
Nevil Kadakia +8 more
doaj +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
Expression of Nek1 during kidney development and cyst formation in multiple nephron segments in the Nek1-deficient kat2J mouse model of polycystic kidney disease [PDF]
, 2014 BACKGROUND: Neks, mammalian orthologs of the fungal protein kinase never-in-mitosis A, have been implicated in the pathogenesis of polycystic kidney disease. Among them, Nek1 is the primary protein inactivated in kat2J mouse models of PKD.
Charity Juang +5 more
core +3 more sources
The Genetic Blueprint of Obesity: From Pathogenesis to Novel Therapies
Obesity Reviews, Volume 26, Issue 12, December 2025.ABSTRACT Obesity is a chronic metabolic disease characterized by disturbances in energy homeostasis, leading to excessive fat accumulation. The pathogenesis of the disease is shaped by a complex interplay of genetic, epigenetic, biological, psychological, and environmental factors.
Gašper Tonin +6 more
wiley +1 more source