Results 31 to 40 of about 2,901 (167)

Functional analysis of PKHD1 splicing in autosomal recessive polycystic kidney disease [PDF]

Journal of Human Genetics, 2006
Autosomal recessive polycystic kidney disease (ARPKD) is caused by mutations in the PKHD1 (polycystic kidney and hepatic disease 1) gene on chromosome 6p12. The longest continuous open reading frame comprises 66 exons encoding a novel 4,074 aa multidomain integral membrane protein (polyductin/fibrocystin) of unknown function.
Carsten Bergmann, Valeska Frank, Fabian Küpper, Christa Schmidt, Jan Senderek, Klaus Zerres   +5 more
openalex   +3 more sources

Biliary and Pancreatic Dysgenesis in Mice Harboring a Mutation in Pkhd1 [PDF]

The American Journal of Pathology, 2008
Autosomal recessive polycystic kidney disease is a hereditary fibrocystic disease that involves the kidneys and the biliary tract. Mutations in the PKHD1 gene are responsible for typical forms of autosomal recessive polycystic kidney disease. We have generated a mouse model with targeted mutation of Pkhd1 by disrupting exon 4, resulting in a mutant ...
Anna‐Rachel Gallagher, Ernie Esquivel, Tiffany S. Briere, Xin Tian, Michihiro Mitobe, Luís F. Menezes, Glen S. Markowitz, Dhanpat Jain, Luiz F. Onuchic, Stefan Somlo   +9 more
openalex   +4 more sources

Mapping Gastroesophageal Reflux Disease and Coronary Artery Disease: A Comprehensive Analysis of Multivariable Mendelian Randomization and Shared Genetic Etiology. [PDF]

Clin Cardiol
ABSTRACT Aims We employed a robust genetic approach to provide a better understanding of whether Gastroesophageal reflux disease (GERD) contributes to coronary artery disease (CAD) risk from a genetic perspective. Methods Multivariable Mendelian Randomization (MVMR) was applied to explore causal links between GERD and CAD using genetic instruments ...
Zhen Y, Yuan X, Ruan M, Lu H, Liang D, Huang D, Deng F, Huang H, Ou J.   +8 more
europepmc   +2 more sources

Predominant Liver Cystic Disease in a New Heterozygotic PKHD1 Variant: A Case Report

American Journal of Case Reports, 2023
BACKGROUND The polycystic kidney and hepatic disease 1 (PKHD1) gene codes for fibrocystin-polyductin, a protein that takes part in cell-signaling for cell differentiation, especially in kidney tubules and bile ducts. A homozygous or compound heterozygous defect in this gene can cause autosomal recessive polycystic kidney disease (ARPKD).
Jacob D. Van Buren, Jeremy Neuman, Richard Sidlow   +2 more
openalex   +3 more sources

Improved Structure and Function in Autosomal Recessive Polycystic Rat Kidneys with Renal Tubular Cell Therapy. [PDF]

PLoS ONE, 2015
Autosomal recessive polycystic kidney disease is a truly catastrophic monogenetic disease, causing death and end stage renal disease in neonates and children.
K J Kelly, Jizhong Zhang, Ling Han, Malgorzata Kamocka, Caroline Miller, Vincent H Gattone, Jesus H Dominguez   +6 more
doaj   +1 more source

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

Intragenic motifs regulate the transcriptional complexity of Pkhd1/PKHD1 [PDF]

Journal of Molecular Medicine, 2014
Autosomal recessive polycystic kidney disease (ARPKD) results from mutations in the human PKHD1 gene. Both this gene, and its mouse ortholog, Pkhd1, are primarily expressed in renal and biliary ductal structures. The mouse protein product, fibrocystin/polyductin complex (FPC), is a 445-kDa protein encoded by a 67-exon transcript that spans >500 kb of ...
Ravindra Boddu, Chaozhe Yang, Amber K. O’Connor, R. Curtis Hendrickson, Braden Boone, Xiangqin Cui, Miguel A. García-González, Peter Igarashi, Luiz F. Onuchic, Gregory G. Germino, Lisa M. Guay‐Woodford   +10 more
openalex   +5 more sources

The PKHD1 gene inhibits tumor proliferation and invasion in intrahepatic cholangiocarcinoma by activating the Notch pathway. [PDF]

Int J Med Sci
Shang T, Chen X, Xue H, Wu Y, Lin S, Zhu Y.   +5 more
europepmc   +3 more sources

AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASE

Slovenska pediatrija, 2022
Autosomal recessive polycystic kidney disease (ARPKD) is an inherited ciliopathy caused by mutations in the PKHD1 gene, which encodes the membrane protein fibrocystin/polyductin.
Anja Fon Gabršček, Rina Rus
doaj   +1 more source

Germline PKHD1 mutations are protective against colorectal cancer [PDF]

Human Genetics, 2011
The autosomal recessive polycystic kidney disease (ARPKD) gene, PKHD1, has been implicated in the genesis or growth of colorectal adenocarcinoma, as a high level of somatic mutations was found in colorectal tumor tissue. To determine whether carriers of a single PKHD1 mutation are at increased risk of colorectal carcinoma, we assessed the prevalence of
Christopher J, Ward, Yanhong, Wu, Ruth A, Johnson, John R, Woollard, Eric J, Bergstralh, Mine S, Cicek, Jason, Bakeberg, Sandro, Rossetti, Christina M, Heyer, Gloria M, Petersen, Noralene M, Lindor, Stephen N, Thibodeau, Peter C, Harris, Vicente E, Torres, Marie C, Hogan, Lisa A, Boardman   +15 more
openaire   +2 more sources