Results 181 to 190 of about 3,912 (211)

Analysis of missense variants in the PKHD1-gene in patients with autosomal recessive polycystic kidney disease (ARPKD)

Human Genetics, 2005
Autosomal recessive polycystic kidney disease (ARPKD) is a severe form of polycystic kidney disease characterized by enlarged kidneys and congenital hepatic fibrosis. Given the poor prognosis for the majority of children with the severe perinatal ARPKD phenotype, there is a regular request for prenatal testing.
Monique Losekoot, Cathleen Haarloo, Claudia Ruivenkamp, Stefan J. White, Martijn H. Breuning, Dorien J.M. Peters   +5 more
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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, Valérie Benoît, B. Maalej, Pascale Hilbert, Laurence Michel Calemard, Hassen Kamoun, Leila Keskes, Neïla Belguith   +7 more
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[From gene to disease; PKHD1 and recessive polycystic kidney disease].

Nederlands tijdschrift voor geneeskunde, 2005
Autosomal recessive polycystic kidney disease (ARPKD) is a severe form of polycystic kidney disease characterised by enlarged kidneys and congenital hepatic fibrosis. The disease has an incidence of 1:7000-:20,000 and is caused by mutations in the PKHD1 gene, which under normal conditions produces the protein fibrocystin, also named polyductin.
D J M, Peters, M, Losekoot, C E M, de Die-Smulders, M, Stevens-Baldewijns, M H, Breuning   +4 more
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[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, 2017
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
Yanbao, Xiang, Huanzheng, Li, Chenyang, Xu, Xueqin, Dong, Xueqin, Xu, Chong, Chen, Shaohua, Tang   +6 more
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A rare deep intronic mutation of PKHD1 gene, c.8798-459 C > A, causes autosomal recessive polycystic kidney disease by pseudoexon activation

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.
Jing Chen, Na Ma, Xiaomeng Zhao, Wen Li, Qianjun Zhang, Shi‐Min Yuan, Yue‐Qiu Tan, Guangxiu Lu, Ge Lin, Juan Du   +9 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.
Qinying, Cao, Weixia, Zhang, Jun, Ge, Donglan, Sun, Qingqi, Feng, Caixia, Li, Yucui, Meng, Junzhen, Zhu   +7 more
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Cancer epigenetics in clinical practice

Ca-A Cancer Journal for Clinicians, 2023
Veronica Davalos, Manel Esteller
exaly  

Systemic therapy for hormone receptor‐positive/human epidermal growth factor receptor 2‐negative early stage and metastatic breast cancer

Ca-A Cancer Journal for Clinicians, 2023
Laura A Huppert, Hope S Rugo
exaly  

Racial and socioeconomic disparities in lung cancer screening in the United States: A systematic review

Ca-A Cancer Journal for Clinicians, 2021
Ernesto Sosa, Dan J Raz, Virginia Chih-Yi Sun   +2 more
exaly  

Horizontal gene transfer and adaptive evolution in bacteria

Nature Reviews Microbiology, 2021
Brian J Arnold, William P Hanage
exaly