Results 71 to 80 of about 2,524,364 (180)

Autosomal Recessive Polycystic Kidney Disease (ARPKD): New Insights from the Identification of the ARPKD Gene, PKHD1 [PDF]

Pediatric Research, 2002
Autosomal Recessive Polycystic Kidney Disease (ARPKD): New Insights from the Identification of the ARPKD Gene ...
openaire   +2 more sources

Intragenic duplication in the PHKD1 gene in autosomal recessive polycystic kidney disease [PDF]

BMC Medical Genetics, 2015
In the present study, we report on a couple who underwent prenatal genetic diagnosis for autosomal recessive polycystic kidney disease (ARPKD).This healthy couple had previously had a healthy boy but had experienced two consecutive neonatal deaths due to respiratory distress resulting from pulmonary hypoplasia caused by oligohydramnios.
Miyazaki, Jun, Ito, Mayuko, Nishizawa, Haruki, Kato, Takema, Minami, Yukito, Inagaki, Hidehito, Ohye, Tamae, Miyata, Masafumi, Boda, Hiroko, Kiriyama, Yuka, Kuroda, Makoto, Sekiya, Takao, Kurahashi, Hiroki, Fujii, Takuma   +13 more
openaire   +2 more sources

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

Functional alterations due to amino acid changes and evolutionary comparative analysis of ARPKD and ADPKD genes

Genomics Data, 2016
A targeted customized sequencing of genes implicated in autosomal recessive polycystic kidney disease (ARPKD) phenotype was performed to identify candidate variants using the Ion torrent PGM next-generation sequencing.
Burhan M. Edrees, Mohammad Athar, Zainularifeen Abduljaleel, Faisal A Al-Allaf, Mohiuddin M. Taher, Wajahatullah Khan, Abdellatif Bouazzaoui, Naffaa Al-Harbi, Ramzia Safar, Howaida Al-Edressi, Khawala Alansary, Abulkareem Anazi, Naji Altayeb, Muawia A. Ahmed   +13 more
doaj   +1 more source

Epidemiology, Risk Factors and Pathophysiology of Primary Sclerosing Cholangitis in Inflammatory Bowel Disease: An Update

JCC Plus, Volume 1, Issue 3, May 2026.
ABSTRACT Background and Aims Primary sclerosing cholangitis (PSC) and inflammatory bowel disease (IBD) represent a unique clinical syndrome affecting up to 80% of PSC patients, characterised by distinct epidemiological patterns, pathophysiological mechanisms and clinical outcomes that differ substantially from either condition occurring independently ...
Luisa Bertin, Paul Henderson, Richard Pollok, Natália Queiroz, Luca Fabris, Edoardo Vincenzo Savarino, Iago Rodríguez‐Lago, Brigida Barberio   +7 more
wiley   +1 more source

Primary URECs: a source to better understand the pathology of renal tubular epithelia in pediatric hereditary cystic kidney diseases

Orphanet Journal of Rare Diseases, 2022
Background In pediatric hereditary cystic kidney diseases, epithelial cell defects mostly result from rare, autosomal recessively inherited pathogenic variants in genes encoding proteins of the cilia-centrosome complex.
Wolfgang H. Ziegler, Sarah Lüdiger, Fatima Hassan, Margarita E. Georgiadis, Kathrin Swolana, Amrit Khera, Arne Mertens, Doris Franke, Kai Wohlgemuth, Mareike Dahmer-Heath, Jens König, Claudia Dafinger, Max C. Liebau, Metin Cetiner, Carsten Bergmann, Birga Soetje, Dieter Haffner   +16 more
doaj   +1 more source

Implementation of an Inherited Diseases Gene Panel to Accelerate Precision Medicine in the South African Public Healthcare System

Molecular Genetics &Genomic Medicine, Volume 14, Issue 4, April 2026.
We developed and implemented a 500‐gene panel for phenotype‐driven genetic testing of Mendelian disorders in South Africa's public healthcare system, achieving a 46% diagnostic yield. This platform supports scalable, cost‐effective rare disease diagnosis and lays the foundation for broader genetic services in resource‐limited settings.
Nadia Carstens, Maria Mudau, Fahmida Essop, Amanda Krause   +3 more
wiley   +1 more source

Identification of Pathogenic PKHD1 Variants in Infants with Autosomal Recessive Polycystic Kidney Disease from the Dhofar Region, Oman [version 2; 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

Hypertrophic Cardiomyopathy as a Key Feature of MRAS‐Related Noonan Syndrome: New Case and Comprehensive Literature Review

Prenatal Diagnosis, Volume 46, Issue 4, Page 581-588, April 2026.
ABSTRACT Noonan syndrome (NS) is a rare multisystemic condition among the RASopathy group, characterized by a broad phenotypic spectrum and genetic variability. It results from pathogenic variants in genes regulating the RAS/MAPK pathway, affecting cell proliferation and differentiation.
Romain Martineau, Constance Wells, Florent Fuchs, Sophie Collardeau‐Frachon, Valentin Ruault, Sophie Colomb, Jean‐Michel Faure, Caroline Bartholmot, Marie Vincenti, Benjamin Ganne, Marjolaine Willems   +10 more
wiley   +1 more source

A Clinical Guidance for the Management of Patients With Hepatoid Adenocarcinoma and A Case Series

Cancer Medicine, Volume 15, Issue 2, February 2026.
ABSTRACT Hepatoid adenocarcinoma (HAC) is a rare extrahepatic tumor of non‐germ cell origin that morphologically resembles hepatocellular carcinoma (HCC). HAC has a propensity to metastasize to the liver and therefore may be mistaken for HCC. There is a lack of standardized treatment protocols, and further studies are needed to evaluate the benefit of ...
Christina Liava, Sudhakar Venkatesh, Michael S. Torbenson, Patrick S. Kamath, Moira Hilscher   +4 more
wiley   +1 more source