Results 41 to 50 of about 3,318 (192)

Cholangitis resembling Caroli’s syndrome in a patient with autosomal dominant polycystic kidney disease: Case report [PDF]

SAGE Open Medical Case Reports
Caroli’s syndrome is a rare autosomal recessive disorder characterized by segmental cystic dilation of the intrahepatic bile ducts and congenital hepatic fibrosis. It is associated with autosomal recessive polycystic kidney disease.
Maha Arkan Khudhair, Rikke Christensen, Anne Skakkebæk, Jakob Grue Graverholt, Anders Bergh Lødrup   +4 more
doaj   +2 more sources

Renal–hepatic–pancreatic dysplasia: An autosomal recessive condition that is not linked to the PKHD1 gene on chromosome 6p21.1‐p12 [PDF]

American Journal of Medical Genetics Part A, 2007
Kasmintan A. Schrader, Tanya N. Nelson, Deborah E. McFadden, Tapio Pantzar, Sylvie Langlois   +4 more
openalex   +4 more sources

PKHD1 Gene [PDF]

, 2020

openalex   +2 more sources

PKHD1 gene mutation analysis in two families of perinatal stage autosomal recessive polycystic kidney disease

Linchuang shenzangbing zazhi
Objective To analyze genetic variation in two cases of autosomal recessive polycystic kidney disease （ARPKD） and provide theoretical rationales for its early diagnosis， treatment， genetic counseling and prenatal diagnosis.
Lan Zeng, Qi-yan Wang, Yi Deng, Dan-ni Wang, Shu-yao Zhu, Jin Wang   +5 more
doaj   +2 more sources

The need for clinical, genetic and radiological characterization of atypical polycystic kidney disease. [PDF]

J Nephrol
Background Autosomal Dominant Polycystic Kidney Disease (ADPKD) is a monogenic disease having a prevalence of 1:400-1000 live births. Depending on kidney imaging, patients can be subdivided into Class 1 (typical) and Class 2 (atypical). The present study
Righini M, Corsi C, Sciascia N, Aiello V, Ciurli F, Lerario S, Berti GM, Montanari F, Conti A, Cristalli CP, Menabò S, Caramanna L, Tondolo F, Turchetti D, La Manna G, Capelli I.   +15 more
europepmc   +3 more sources

Association study of Melanocortin-4 Receptor (rs17782313) and PKHD1 (rs2784243) variations and early incidence of obesity at the age of maturity

Advances in Human Biology, 2023
Introduction: Obesity is primarily caused by the dysfunction of the energy homeostasis system. Numerous studies have reported an association between obesity and the rs17782313 variant near the melanocortin-4 receptor (MC4R) gene.
Yasaman Ansari, Mojgan Asadi, Iman Salahshouri Far, Nahid Pashaie, Nafise Noroozi, Mahsa M Amoli   +5 more
doaj   +1 more source

An Empirical Biomarker-based Calculator for Autosomal Recessive Polycystic Kidney Disease - The Nieto-Narayan Formula [PDF]

, 2016
Autosomal polycystic kidney disease (ARPKD) is associated with progressive enlargement of the kidneys fuelled by the formation and expansion of fluid-filled cysts.
Goldberg, Itzhak D., Narayan, Prakash, Nieto, Jake A., Yamin, Michael A.   +3 more
core   +10 more sources

The clinical complexity of PKHD1 gene: from neonatal lethality to casual diagnosis in late pediatric stages

Anales de Pediatría (English Edition)
Ana Rubio Granda, Helena Gil-Peña, Carlos Rodríguez-Márquez, Gonzalo Solís Sánchez, Flor A. Ordóñez-Álvarez   +4 more
openalex   +3 more sources

Differential regulation of MYC expression by PKHD1/Pkhd1 in human and mouse kidneys: phenotypic implications for recessive polycystic kidney disease

Frontiers in Cell and Developmental Biology, 2023
Autosomal recessive polycystic kidney disease (ARPKD; MIM#263200) is a severe, hereditary, hepato-renal fibrocystic disorder that leads to early childhood morbidity and mortality. Typical forms of ARPKD are caused by pathogenic variants in the PKHD1 gene,
Naoe Harafuji, Chaozhe Yang, Maoqing Wu, Girija Thiruvengadam, Heather Gordish-Dressman, R. Griffin Thompson, P. Darwin Bell, Avi Z. Rosenberg, Claudia Dafinger, Max C. Liebau, Zsuzsanna Bebok, Ljubica Caldovic, Ljubica Caldovic, Lisa M. Guay-Woodford, Lisa M. Guay-Woodford   +14 more
doaj   +1 more source

A novel PKHD1 splicing variant identified in a fetus with autosomal recessive polycystic kidney disease

Frontiers in Genetics, 2023
Objective: Variants of the polycystic kidney and hepatic disease 1 (PKHD1) gene are associated with autosomal recessive polycystic kidney disease (ARPKD).
Mingzhu Miao, Liqun Feng, Jue Wang, Cheng Xu, Xiaotian Su, Guoying Zhang, Shoulian Lu   +6 more
doaj   +1 more source