Results 71 to 80 of about 656,619 (173)

Centriolar Protein POC5 Regulates Human Adipogenesis and Cellular Senescence: Insights From a Novel Metabolic Ciliopathy

The FASEB Journal, Volume 40, Issue 14, 31 July 2026.
The identification of a patient carrying a novel homozygous p.(Gln206Ter) POC5 variant revealed a metabolic phenotype associated with POC5 deficiency. POC5 deficiency disrupts centriolar architecture and ciliary organization, leading to impaired proliferation, premature cellular senescence, and reduced insulin signaling.
Valeria Pistorio, Camille Vatier, Émilie Capel, Carine Beaupère, Martine Auclair, Virginie Steunou, Romain Morichon, Michael Joubert, Corinne Vigouroux, Jérémie Gautheron, Isabelle Jéru   +10 more
wiley   +1 more source

Knowledge Mapping of Alport Syndrome: A Bibliometric Analysis From 2000 to 2025

Molecular Genetics &Genomic Medicine, Volume 14, Issue 7, July 2026.
This bibliometric analysis outlines global research trends, collaborations, and hotspots of Alport syndrome, offering references for future basic research and clinical management. ABSTRACT Background Alport syndrome (AS) is a multisystem hereditary disorder characterized by persistent hematuria, progressive renal insufficiency, sensorineural hearing ...
Xiujuan Cao, Wei Zhou, Yong Wang, Lvxian Wu, Jianhua Mao   +4 more
wiley   +1 more source

Genetic Abnormalities and Clinical Management of Fetal Genitourinary System Anomalies in Eastern China

American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1362-1371, June 2026.
ABSTRACT To investigate the correlation between genetic abnormalities and fetal genitourinary (GU) anomalies in Eastern China and to provide assistance for the clinical management of fetuses with different types of GU anomalies. Five hundred forty‐five fetuses with GU anomalies were enrolled, undergoing karyotyping, copy number variation sequencing ...
Jie Liang, Jiebin Wu, Lin Zhang, Yunmeng Qi, Yi Wang, Xu Cao, Jingfang Zhai   +6 more
wiley   +1 more source

Caroli's syndrome with autosomal recessive polycystic kidney disease in a two month old infant [PDF]

, 2006
Caroli's syndrome is a rare congenital disorder that involves intrahepatic bile duct ectasia and congenital hepatic fibrosis, frequently seen with concomitant autosomal recessive polycystic kidney disease (ARPKD). Literature on infants with ARPKD is rare.
박영년, 이재승, 김명준
core   +1 more source

Unveiling a New Link: Cholesterol Deficiency in Smith–Lemli–Opitz and Niemann–Pick C as a Driver of Ciliopathies

American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1179-1191, June 2026.
ABSTRACT The ciliopathies are a group of genetic disorders caused by defective function of either the primary cilia (a large number) or the motile cilia (a much smaller number). These have been defined as diseases with mutations in genes encoding individual ciliary or cilia‐associated proteins.
Robert P. Erickson, Maria Teresa Fiorenza   +1 more
wiley   +1 more source

Hereditary Renal Cystic Diseases

Turkish Journal of Nephrology, 2019
Polycystic kidney disease is one of the most common reasons of end stage renal failure. Polycystic kidney disease may result from many etiological factors, but frequently arises hereditarily.
Alper UZAK, M. Deniz AYLI
doaj  

Diagnostic value of fetal MRI in evaluating fetal urinary anomalies

The Egyptian Journal of Radiology and Nuclear Medicine, 2015
Purpose: To detect the accuracy of fetal MRI in diagnosing urinary tract anomalies in comparison with ultrasonographic findings and fetal outcome. Methods: We examined 30 fetuses with sonographically suspected congenital urinary tract anomalies by 2D/3D ...
Noha Hosam El Din Behairy, Lamiaa Adel Salah El Din, Naglaa Mohamed Fahmy Hanoun, Maged Abd El Raof, Mohamed Abd El Kader Ali   +4 more
doaj   +1 more source

Estudo clínico e molecular da doença renal policística autossômica dominante em duas famílias [PDF]

, 2000
Dissertação (mestrado) - Universidade Federal de Santa Catarina, Centro de Ciências da Saúde.Objetivos: Verificar a associação de variáveis clínicas para insuficiência renal crônica e a origem da mutação gênica em duas famílias portadoras de Doença Renal
Dias, Tânia Lúcia Viana
core  

Grayscale ultrasound characteristics of autosomal dominant polycystic kidney disease severity – an adult and pediatric cohort study

, 2017
Introduction: The most common hereditary kidney condition is autosomal dominant polycystic kidney disease. It is the cause of 5–10% of end-stage renal disease.
Marcin Tkaczyk, Podgórski, Michał, Michał Podgórski, Tkaczyk, Marcin, Marcin Strzelczyk, Afshari, Susan, Pawlak-Bratkowska, Monika, Strzelczyk, Marcin, Piotr Grzelak, Grzelak, Piotr, Susan Afshari, Monika Pawlak-Bratkowska   +11 more
core   +1 more source

Autosomal recessive polycystic kidney disease: late-onset renal enlargement and proteinuria with rare PKHD1 mutation—a case report

Egyptian Journal of Medical Human Genetics
Background Autosomal recessive polycystic kidney disease (ARPKD) is a genetically inherited pediatric disorder. It is caused by a mutation in the PKHD1 gene located on chromosome 6.
Tina Zeraati, Mohammad Reza Abbaszadegan, Anoush Azarfar, Ehsan Ghayoor Karimiani, Malihe Lotfi, Abbas Ali Zeraati   +5 more
doaj   +1 more source