Results 31 to 40 of about 3,318 (192)

Congenital Hepatic Fibrosis in a Purebred Spanish Horse Foal: Pathology and Genetic Studies on PKHD1 Gene Mutations [PDF]

Veterinary Pathology, 2018
A 1-month-old Purebred Spanish Horse (PSH) foal presented with progressive hepatic failure culminating in death. Hepatic lesions were consistent with congenital hepatic fibrosis (CHF). Genetic studies in the PKHD1 gene in the affected foal revealed that it was heterozygous for the 2 previously described single-nucleotide polymorphisms (SNPs) linked to
Jéssica Molín, Javier Asín, Arantza Vitoria, A. Sanz, Marina Gimeno, A. Romero, Javier Sánchez-Marco, Pedro Pinczowski, Francisco José Vázquez, C. Rodellar, Lluís Luján   +10 more
openalex   +4 more sources

A Rare Diagnosis of Caroli Syndrome in a Young Patient [PDF]

Clin Case Rep
ABSTRACT Caroli syndrome is a rare but serious congenital disorder associated with portal hypertension and polycystic kidney disease. Early diagnosis via imaging, particularly MRCP, is crucial to prevent life‐threatening complications such as cholangitis and biliary cirrhosis.
Karimzadeh‐Soureshjani E, Pourhasan F, Simab P, Shojaei S, Mohammadian Y.   +4 more
europepmc   +2 more sources

Role of the Hepatocyte Nuclear Factor-1β (HNF-1β) C-terminal Domain in Pkhd1 (ARPKD) Gene Transcription and Renal Cystogenesis [PDF]

Journal of Biological Chemistry, 2005
Hepatocyte nuclear factor-1beta (HNF-1beta) is a homeodomain-containing transcription factor that regulates tissue-specific gene expression in the kidney and other epithelial organs. Mutations of HNF-1beta produce congenital cystic abnormalities of the kidney, and previous studies showed that HNF-1beta regulates the expression of the autosomal ...
Thomas Hiesberger, Xinli Shao, Eric Gourley, Andreas Reimann, Marco Pontoglio, Peter Igarashi   +5 more
openalex   +6 more sources

Newly DetectedPKHD1Gene Mutation in a Newborn with Fatal Autosomal Recessive Polycystic Kidney Disease [PDF]

Neonatal Medicine, 2015
Autosomal recessive polycystic kidney disease is among the most common inherited ciliopathies and is caused by mutations in the polycystic kidney and hepatic disease 1 (PKHD1) gene. Despite its great phenotypic variability, this condition is usually diagnosed during the neonatal and early infantile periods.
Ye Jee Byun, Hyun-Jeong Do, Seong-Hee Oh, Chong Jai Kim, Beom Hee Lee, Gu-Hwan Kim, Byoung Sop Lee, Ki Soo Kim, Ai-Rhan Kim   +8 more
openalex   +2 more sources

Heart dysfunction in a rat model with autosomal recessive polycystic kidney disease. [PDF]

J Physiol
Abstract figure legend Our results demonstrate a diastolic dysfunction in animals with severe kidney disease. Moreover, chronic kidney disease (CKD)‐induced heart fibrosis and hypertrophy are associated with a dysregulation of cardiokine signalling in autosomal recessive polycystic kidney disease (ARPKD) animals. Created using BioRender.com.
Gayrard N, Plawecki M, Lauret C, Fila M, Sicard P, Duranton F, Boukhaled JH, Cortijo-Tejero I, Lotierzo M, Jover B, Cristol JP, Raynaud F.   +11 more
europepmc   +2 more sources

Comprehensive characterization of PKHD1 mutation in human colon cancer [PDF]

Cancer Medicine
Introduction The PKHD1 (Polycystic Kidney and Hepatic Disease 1) gene is essential for producing fibrocystin or polyductin, which is crucial in various cellular functions.
Lu Han, Fangming Gong, Xuxiaochen Wu, Wanxiangfu Tang, Hua Bao, Yue Wang, Daizhenru Wang, Yulan Sun, Peng Li   +8 more
doaj   +2 more sources

Exome sequencing for assessing the risk of 453 monogenic disorders in offspring: A study of 832 Chinese couples. [PDF]

Clin Transl Med
Clinical and Translational Medicine, Volume 14, Issue 11, November 2024.
Ding X, Jiang M, Hu Q, Tong R, Wang L, Lv J, Pan L, Hou J, He J, Zhou P.   +9 more
europepmc   +2 more sources

Fine Mapping of the Autosomal Recessive Polycystic Kidney Disease Locus (PKHD1) and the Genes MUT, RDS, CSNK2β, and GSTA1 at 6p21.1–p12

Genomics, 1998
A total of 33 polymorphic markers were analyzed to generate a high-resolution genetic linkage map of the locus PKHD1 (polycystic kidney and hepatic disease 1) for the autosomal recessive polycystic kidney disease (ARPKD), using a combination of recombination mapping and linkage analysis in 164 families.
Gabi Mücher, Jutta Becker, Michael Knapp, Reinhard Büttner, Markus Moser, Sabine Rudnik‐Schöneborn, Stefan Somlo, Gregory G. Germino, Luiz F. Onuchic, Ellis D. Avner, Lisa M. Guay‐Woodford, Klaus Zerres   +11 more
openalex   +4 more sources

AIRE mutation in an elderly Caroli’s patient with cholangitis and sepsis: a case report [PDF]

Journal of Medical Case Reports
Background Caroli’s disease, an autosomal recessive, hereditary-related disorder, is a rare disease, in which the diagnosis is based primarily on medical imaging and pathophysiological examinations.
Yan Yan, Juanjuan Fu, Lilin Jiang, Zhonghua Lu, Renfang Chen   +4 more
doaj   +2 more sources

Quantifying variant contributions in cystic kidney disease using national-scale whole-genome sequencing. [PDF]

J Clin Invest
BackgroundCystic kidney disease (CyKD) is a predominantly familial disease in which gene discovery has been led by family-based and candidate gene studies, an approach that is susceptible to ascertainment and other biases.MethodsUsing whole genome ...
Sadeghi-Alavijeh O, Chan MM, Doctor GT, Voinescu CD, Stuckey A, Kousathanas A, Ho AT, Stanescu HC, Bockenhauer D, Sandford RN, Levine AP, Gale DP.   +11 more
europepmc   +3 more sources