Results 31 to 40 of about 2,524,364 (180)

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

Challenging Disease Ontology by Instances of Atypical PKHD1 and PKD1 Genetics [PDF]

, 2023
Background: Autosomal polycystic kidney disease is distinguished into dominant (ADPKD) and recessive (ARPKD) inheritance usually caused by either monoallelic (PKD1/PKD2) or biallelic (PKHD1) germline variation.
Münch, Johannes, Nagel, Mato, Popp, Bernt, Halbritter, Jan, de Fallois, Jonathan, Schönauer, Ria   +5 more
core   +4 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

Spectrum of Mutations in the Gene for Autosomal Recessive Polycystic Kidney Disease (ARPKD/PKHD1) [PDF]

Journal of the American Society of Nephrology, 2003
Autosomal recessive polycystic kidney disease (ARPKD/PKHD1) is an important cause of renal-related and liver-related morbidity and mortality in childhood. Recently mutations in the PKHD1 gene on chromosome 6p21.1-p12 have been identified as the molecular cause of ARPKD.
Bergmann, C., Senderek, J., Sedlacek, B., Pegiazoglou, I., Puglia, P., Eggermann, T., Rudnik-Schoneborn, S., Furu, L., Onuchic, L., De Baca, M., Germino, G., Guay-Woodford, L., Somlo, S., Moser, M., Buttner, R., Zerres, K.   +15 more
openaire   +3 more sources

Presence of compound heterozygous mutations in the PKHD1 gene in an asymptomatic patient

Nefrología (English Edition), 2020
María Isabel Luis-Yanes, Georgina Martínez Gómez, Carolina Tapia-Romero, Patricia Tejera-Carreño, Víctor M. García-Nieto   +4 more
doaj   +3 more sources

Pkhd1cyli/cyli mice have altered renal Pkhd1 mRNA processing and hormonally sensitive liver disease [PDF]

, 2023
Autosomal-recessive polycystic kidney disease (ARPKD; MIM #263200) is a severe, hereditary, hepato-renal fibrocystic disorder that causes early childhood morbidity and mortality.
Naoe Harafuji, Guay-Woodford, Lisa M, Oded Foreman, Heather Gordish-Dressman, Caldovic, Ljubica, Yu, Weiying, Harafuji, Naoe, Zsuzsa Bebok, Foreman, Oded, Bhattacharya, Surajit, Bebok, Zsuzsa, Ljubica Caldovic, Ravindra Boddu, Weiying Yu, Yang, Chaozhe, Eva M. Eicher, Surajit Bhattacharya, Boddu, Ravindra, Gordish-Dressman, Heather, Eicher, Eva M, Chaozhe Yang, Lisa M. Guay-Woodford, Hayk Barseghyan, Barseghyan, Hayk   +23 more
core   +1 more source

Generation of an induced pluripotent stem cell line (DHMCi007-A) from a patient with autosomal recessive polycystic kidney disease (ARPKD) carrying a homozygous missense mutation in the fibrocystin-encoding PKHD1 gene

Stem Cell Research, 2021
Autosomal recessive polycystic kidney disease (ARPKD) is a severe pediatric kidney disorder primarily caused by mutations in the fibrocystin-encoding PKHD1 gene.
Mansoureh Tabatabaeifar, Theresa Leonie Fluhr, Hanna Syring, Gudrun Göhring, Franz Schaefer, Sabine Jung-Klawitter   +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

Table1_Differential regulation of MYC expression by PKHD1/Pkhd1 in human and mouse kidneys: phenotypic implications for recessive polycystic kidney disease.xlsx

, 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,
Heather Gordish-Dressman (54143), P. Darwin Bell (17405743), Avi Z. Rosenberg (632626), Ljubica Caldovic (181710), Maoqing Wu (496050), Girija Thiruvengadam (17405737), Lisa M. Guay-Woodford (14392467), Chaozhe Yang (496051), Max C. Liebau (10191512), R. Griffin Thompson (17405740), Claudia Dafinger (2617703), Naoe Harafuji (414811), Zsuzsanna Bebok (2657035)   +12 more
core   +1 more source

Generation of an induced pluripotent stem cell line (DHMCi006-A) from a patient with autosomal recessive polycystic kidney disease (ARPKD) carrying a compound heterozygous missense mutation in the fibrocystin encoding PKHD1 gene

Stem Cell Research, 2021
Mutations in the PKHD1 gene, encoding for the ciliary protein fibrocystin, play a major role in the cystogenesis in autosomal recessive polycystic kidney disease (ARPKD), a severe pediatric kidney disorder. Peripheral blood mononuclear cells (PBMCs) from
Theresa Leonie Fluhr, Mansoureh Tabatabaeifar, Hanna Syring, Gudrun Göhring, Franz Schaefer, Sabine Jung-Klawitter   +5 more
doaj   +1 more source