Results 181 to 190 of about 3,318 (192)

An Ashkenazi founder mutation in the PKHD1 gene

European Journal of Medical Genetics, 2016
Autosomal recessive polycystic kidney disease (ARPKD) is usually detected late in pregnancies in embryos with large echogenic kidneys accompanied by oligohydramnios. Hundreds of private pathogenic variants have been identified in the large PKHD1 gene in various populations.
Michal Macarov, Vardiela Meiner, Adina Quint, Hagit Daum, Ziva Ben Neriah, Michal Sagi, Orly Elpeleg, Shai Carmi, Israela Lerer   +8 more
openaire   +3 more sources

[Analysis of PKHD1 gene mutation in a family affected with infantile polycystic kidney disease].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 2016
To analyze PKHD1 gene mutation in a family affected with autosomal recessive polycystic kidney disease (ARPKD).Genomic DNA was extracted from peripheral and cord blood samples obtained from the parents and the fetus. Potential mutations were identified using targeted exome sequencing and confirmed by Sanger sequencing. Pathogenicity of the mutation was
Chong Chen, Huanzheng Li, Chenyang Xu, Xueqin Dong, Xueqin Xu, Shaohua Tang, Yanbao Xiang   +6 more
openaire   +3 more sources

Genomic organization of the KIAA0057 gene that encodes a TRAM-like protein and its exclusion as a polycystic kidney and hepatic disease 1 (PKHD1) candidate gene

Mammalian Genome, 1999
Luiz F. Onuchic, Michal Mrug, Alicia L. Lakings, Gabi Muecher, Jutta Becker, Klaus Zerres, Ellis D. Avner, Mehul Dixit, Stefan Somlo, Gregory G. Germino, Lisa M. Guay‐Woodford   +10 more
openalex   +3 more sources

Genetic insights into fetal kidney development: Variants in HNF1A and PKHD1 genes

Gene
The orchestration of fetal kidney development involves the precise control of numerous genes, including HNF1A, HNF1B and PKHD1. Understanding the genetic factors influencing fetal kidney development is essential for unraveling the complexities of renal disorders.
Mayssa, Abdelwahed, Valerie, Benoit, Bayen, Maalej, Pascale, Hilbert, Laurence Michel, Calemard, Hassen, Kamoun, Leila, Ammar-Keskes, Neila, Belguith   +7 more
openaire   +2 more sources

A rare deep intronic mutation of PKHD1 gene, c.8798-459 C > A, causes autosomal recessive polycystic kidney disease by pseudoexon activation [PDF]

Journal of Human Genetics, 2019
Autosomal recessive polycystic kidney disease (ARPKD), is a rare hepatorenal fibrocystic disorder primarily associated with progressive growth of multiple cysts in the kidneys causing progressive loss of renal function. The disease is linked to mutations in the PKHD1 gene.
Juan Du, Yue-Qiu Tan, Guangxiu Lu, Wen Li, Qianjun Zhang, Na Ma, Jing Chen, Xiaomeng Zhao, Ge Lin, Shimin Yuan   +9 more
openaire   +2 more sources

Pseudoexon activation in the PKHD1 gene: a French founder intronic mutation IVS46+653A>G causing severe autosomal recessive polycystic kidney disease

Clinical Genetics, 2009
Laurence Michel‐Calemard, Frédérique Dijoud, Marianne Till, J. C. Lambert, M Vercherat, Véronique Tardy, Christine Coubes, Yves Morel   +7 more
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[Prenatal diagnosis and genetic counseling in two pedigrees affected with infantile polycystic kidney disease due to PKHD1 gene mutations].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 2019
To detect potential mutations of the PKHD1 gene in two pedigrees affected with infantile polycystic kidney disease.Clinical data and peripheral venous blood samples were collected from the probands and their parents as well as fetal amniotic fluid cells. Genome DNA was extracted from the peripheral blood samples and amniotic fluid cells.
Yucui Meng, Jun Ge, Junzhen Zhu, Weixia Zhang, Qingqi Feng, Li Caixia, Donglan Sun, Qinying Cao   +7 more
openaire   +3 more sources

Phenotype analysis of 9 cases with mutations in PKHD1 gene

, 2017
Guomin Li, Qian Shen, Li Sun, Qi Cao, Yihui Zhai, Xiaoyan Fang, Bingbing Wu   +6 more
openalex   +1 more source

Expression of Polyductin, the PKHD1 gene product, in Normal, Dysgenetic and Neoplastic Liver

, 2007
L. Dorn, Luiz F. Onuchic, L. F. C. Menezes, Consolato Sergi   +3 more
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Autosomal recessive polycystic kidney disorder due to two novel compound heterozygote mutations in PKHD1 gene: case report

, 2017
Mohammad Miryounesi, Majid Fardaei, Kaoru Tabei, Soudeh Ghafouri‐Fard   +3 more
openalex