Results 41 to 50 of about 3,912 (211)

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

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

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

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

Challenging Disease Ontology by Instances of Atypical PKHD1 and PKD1 Genetics

Frontiers in Genetics, 2021
BackgroundAutosomal polycystic kidney disease is distinguished into dominant (ADPKD) and recessive (ARPKD) inheritance usually caused by either monoallelic (PKD1/PKD2) or biallelic (PKHD1) germline variation. Clinical presentations are genotype-dependent
Jonathan de Fallois, Ria Schönauer, Johannes Münch, Mato Nagel, Bernt Popp, Jan Halbritter   +5 more
doaj   +1 more source

Mosaic PKHD1 in Polycystic Kidneys Caused Aberrant Protein Expression in the Mitochondria and Lysosomes

Frontiers in Medicine, 2021
Autosomal recessive polycystic kidney disease (ARPKD) is a severe renal cystic disease caused mainly by the polycystic kidney and hepatic disease 1 (PKHD1).
Chengxian Xu, Chenxi Yang, Qing Ye, Jie Xu, Lingxiao Tong, Yuchen Zhang, Huijun Shen, Zhihong Lu, Jingjing Wang, Enyin Lai, Jianhua Mao, Jianhua Mao, Pingping Jiang, Pingping Jiang, Pingping Jiang   +14 more
doaj   +1 more source

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   +5 more sources

Functionally Annotating Regulatory Elements in the Equine Genome Using Histone Mark ChIP-Seq. [PDF]

, 2019
One of the primary aims of the Functional Annotation of ANimal Genomes (FAANG) initiative is to characterize tissue-specific regulation within animal genomes.
Bellone, Rebecca R, Creppe, Catherine, Finno, Carrie J, Hales, Erin N, Kalbfleisch, TS, Kern, Colin, Kingsley, NB, MacLeod, James N, Petersen, Jessica L, Zhou, Huaijun   +9 more
core   +2 more sources

Quality of DNA extracted from formalin-fixed, paraffin-embedded canine tissues. [PDF]

, 2020
Veterinary pathology tissue banks are valuable resources for genetic studies. However, limited data exist as to whether quality DNA can be extracted from these tissues for use in canine genotyping studies.
Bannasch, Danika L, Dear, Jonathan D, Sykes, Jane E   +2 more
core   +1 more source