Results 51 to 60 of about 3,398 (180)

Data_Sheet_1_Mosaic PKHD1 in Polycystic Kidneys Caused Aberrant Protein Expression in the Mitochondria and Lysosomes.PDF

, 2021
Autosomal recessive polycystic kidney disease (ARPKD) is a severe renal cystic disease caused mainly by the polycystic kidney and hepatic disease 1 (PKHD1).
Huijun Shen (10717623), Zhihong Lu (349154), Jie Xu (34477), Jingjing Wang (140791), Qing Ye (90197), Chengxian Xu (7143806), Chenxi Yang (1718218), Enyin Lai (11842346), Yuchen Zhang (524816), Jianhua Mao (447450), Pingping Jiang (307787), Lingxiao Tong (11842343)   +11 more
core   +1 more source

Table_1_Mosaic PKHD1 in Polycystic Kidneys Caused Aberrant Protein Expression in the Mitochondria and Lysosomes.XLSX

, 2021
Autosomal recessive polycystic kidney disease (ARPKD) is a severe renal cystic disease caused mainly by the polycystic kidney and hepatic disease 1 (PKHD1).
Huijun Shen (10717623), Zhihong Lu (349154), Jie Xu (34477), Jingjing Wang (140791), Qing Ye (90197), Chengxian Xu (7143806), Chenxi Yang (1718218), Enyin Lai (11842346), Yuchen Zhang (524816), Jianhua Mao (447450), Pingping Jiang (307787), Lingxiao Tong (11842343)   +11 more
core   +1 more source

A novel Pkhd1 mutation interacts with the nonobese 1Diabetic genetic background to cause autoimmune cholangitis

, 2017
We previously reported that NOD.c3c4 mice develop spontaneous autoimmune biliary disease (ABD) with anti-mitochondrial Abs, histopathological lesions, and autoimmune T lymphocytes similar to human primary biliary cholangitis.
Ridgway, WM, Huang, W, Wicker, LS, Wicker, Linda, Bezerra, J, Peterson, LB, Aronow, B, Wu, Y, Shivakumar, P, Kottyan, L, Adams, D, Rainbow, DANIEL, Rainbow, DB, Karns, R, Gershwin, ME   +14 more
core   +2 more sources

Clinical and genetic characteristics of autosomal recessive polycystic kidney disease in Oman

BMC Nephrology, 2020
Background There is a high prevalence of rare genetic disorders in the Middle East, and their study provides unique clinical and genetic insights. Autosomal recessive polycystic kidney disease (ARPKD) is one of the leading causes of kidney and liver ...
Intisar Al Alawi, Elisa Molinari, Issa Al Salmi, Fatma Al Rahbi, Adhra Al Mawali, John A. Sayer   +5 more
doaj   +1 more source

The tyrosine-kinase inhibitor Nintedanib ameliorates autosomal-dominant polycystic kidney disease

Cell Death and Disease, 2021
Autosomal-dominant polycystic kidney disease (ADPKD) is the most common inherited kidney disease and is characterized by progressive growth of fluid-filled cysts. Growth factors binding to receptor tyrosine kinases (RTKs) stimulate cell proliferation and
Abeda Jamadar, Sreenath M. Suma, Sijo Mathew, Timothy A. Fields, Darren P. Wallace, James P. Calvet, Reena Rao   +6 more
doaj   +1 more source

Integrated Molecular Autopsy in a Highly Consanguineous Perinatal Cohort With Severe Malformations and Strong Genetic Susceptibility

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To evaluate the diagnostic yield of integrated molecular autopsy (IMA) by combining deep post‐mortem phenotyping with exome (ES) and targeted genome sequencing (GS) for prenatally detected anomalies. Method This retrospective study evaluated 28 perinatal cases (22 fetuses, six neonates) with severe anomalies, normal first‐tier ...
Sihem Darouich, Samia Darouich, Ahmed Khemiri, Dorsaf Gtari, Raoudha Smiti, Ahmed Nhili, Houda Bellamine   +6 more
wiley   +1 more source

Characterizing the Transcriptional Complexity of PKHD1/Pkhd1 [PDF]

, 2012
Mutations in PKHD1 gene cause autosomal recessive polycystic kidney disease. Our previous studies have shown that human PKHD1 and its mouse orthologue, Pkhd1, undergo an extensive pattern of alternative splicing. Pkhd1 is primarily expressed in renal and
Boddu, Ravindra
core  

Identification of Pathogenic PKHD1 Variants in Infants with Autosomal Recessive Polycystic Kidney Disease from the Dhofar Region, Oman [version 1; peer review: 2 approved]

F1000Research
Background Autosomal recessive polycystic kidney disease (ARPKD) is a rare, inherited disorder primarily affecting the kidneys and liver. Disease-causing variants in PKHD1 lead to a disruption of the encoded protein fibrocystin/polyductin.
Maha Al Awadi, Fatma Al Awaid, Joshua Pillai, Matthew Sampson, Juliana E. Arcila Galvis, Ashwaq Al Maimani, Zainab Al Hashmi, John A. Sayer, Intisar Al Alawi   +8 more
doaj   +1 more source

Broadening horizons: Pathogenesis and therapeutics of renal ciliopathies

Journal of Cell Communication and Signaling, Volume 20, Issue 3, September 2026.
This review elucidates the molecular mechanisms and aberrant signaling pathways in renal ciliopathies, links genetic heterogeneity to clinical phenotypes, and lays a theoretical basis for prenatal diagnosis and novel therapies. Abstract Renal ciliopathies encompass a spectrum of genetic disorders arising from structural or functional impairments of ...
Qiaowei Zhang, Shuwen Xue, Zhi Gao, Panlai Shi, Li Wang, Qi Feng, Xiangdong Kong, Xiaofan Zhu   +7 more
wiley   +1 more source

Clinical and Genetic Analysis of Pediatric Neurodevelopmental Disorders With Complex Chromosomal Rearrangements in Two Cases

Molecular Genetics &Genomic Medicine, Volume 14, Issue 9, September 2026.
This study investigates the impact of complex chromosomal rearrangement (CCR) breakpoints on pediatric developmental delay and epilepsy. By integrating karyotype analysis with WES and/or WGS, we identified an inversion on chromosome 3 likely affecting ROBO1/DNAJC13/ACAD11 in one patient and a complex chromosome 1 rearrangement with a novel KCNA2 ...
Jiaci Li, Wenxuan Fan, Nan Liu, Shuyue Zhang, Ping Wang, Chunyu Gu, Jianbo Shu   +6 more
wiley   +1 more source