Results 61 to 70 of about 3,398 (180)

Imaging manifestations of Caroli disease with autosomal recessive polycystic kidney disease: a case report and literature review

BMC Pregnancy and Childbirth, 2021
Background Both Caroli disease (CD) and autosomal recessive polycystic kidney disease (ARPKD) are autosomal recessive disorders, which are more commonly found in infants and children, for whom surviving to adulthood is rare.
Xiuzhen Yao, Weiqun Ao, Jianhua Fang, Guoqun Mao, Chuanghua Chen, Lifang Yu, Huaijie Cai, Chenke Xu   +7 more
doaj   +1 more source

Review of Potential Significance of Mutations of ADAMTS20, NF1 and PKHD1 Detected Using Next Generation Sequencing (NGS) in Dermal Fibrosarcoma Arising in Dermatofibrosarcoma Protuberans [PDF]

Folia Medica, 2020
We examined a status of fibrosarcoma arising in dermatofibrosarcoma protuberans of 64-year-old male patient. A dermal, solid, grayish-yellow, desmin-negative trichrome-bluish tumor measured 1.5 cm in diameter pT1a (edition 8 pTNM).
Artur Kowalik, Andrzej Wincewicz, Sebastian Zięba, Janusz Kopczynski, Mariusz Koda, Stanisław Sulkowski, Luiza Kańczuga-Koda, Stanisław Góźdź   +7 more
doaj   +3 more sources

Lactoferrin Deficiency During Lactation Causes Adult Obesity‐Related Metabolic Disease Through Persistent Adipose Dysfunction Driven by Impaired Adipocyte Development

Advanced Science, Volume 13, Issue 44, 7 August 2026.
Lactational lactoferrin deficiency exerts lasting effects on epididymal adipose tissue development from lactation into adulthood: it impairs adipocyte hyperplasia and induces pathological hypertrophy, resulting in lower body weight yet exacerbated metabolic dysfunction under a high‐fat diet in adulthood.
Qin An, Yunxia Zou, Wenli Wang, Zhimei Cheng, Zhuoxing Zhang, Ruwei Liu, Xiong Wang, Kunlun Huang, Fangrong Ding, Yunping Dai, Qingyong Meng, Yali Zhang   +11 more
wiley   +1 more source

Tissue-specific regulation of the mousePkhd1(ARPKD) gene promoter

American Journal of Physiology-Renal Physiology, 2014
Autosomal recessive polycystic kidney disease, an inherited disorder characterized by the formation of cysts in renal collecting ducts and biliary dysgenesis, is caused by mutations of the polycystic kidney and hepatic disease 1 ( PKHD1) gene. Expression of PKHD1 is tissue specific and developmentally regulated.
Scott S, Williams, Patricia, Cobo-Stark, Sachin, Hajarnis, Karam, Aboudehen, Xinli, Shao, James A, Richardson, Vishal, Patel, Peter, Igarashi   +7 more
openaire   +3 more sources

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

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

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

Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts [PDF]

Journal of Medical Genetics, 2005
Autosomal recessive polycystic kidney disease (ARPKD; MIM 263200) is an important childhood nephropathy, occurring in 1 in 20 000 live births.1 The clinical phenotype is dominated by dilatation of the renal collecting ducts, biliary dysgenesis, and portal tract fibrosis. Affected children often present in utero with enlarged, echogenic kidneys, as well
A M Sharp, L M Messiaen, G Page, C Antignac, M-C Gubler, L F Onuchic, S Somlo, G G Germino, L M Guay-Woodford   +8 more
openaire   +1 more source

Novel Mutation in the PKHD1 Gene Diagnosed Prenatally in a Fetus with Autosomal Recessive Polycystic Kidney Disease

Case Reports in Genetics, 2014
We report a 29-year-old gravida 2, para 0100, who presented at 19 weeks and 4 days of gestation for ultrasound to assess fetal anatomy. Routine midtrimester fetal anatomy ultrasound revealed enlarged, hyperechoic fetal kidneys and normal amniotic fluid ...
Pankaj Thakur, Paul Speer, Aleksandar Rajkovic   +2 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