Results 31 to 40 of about 93 (50)

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  

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  

Abernethy malformation associated with Caroli’s syndrome in a patient with a PKHD1 mutation: a case report

Diagnostic Pathology, 2017
Background Abernethy malformation is a rare congenital anomaly characterised by the partial or complete absence of the portal vein and the subsequent development of an extrahepatic portosystemic shunt.
Xiao-xiao Mi, Xiao-guang Li, Zi-rong Wang, Ling Lin, Chun-hai Xu, Jun-ping Shi   +5 more
doaj   +1 more source

Biliary sepsis complication with congenital hepatic fibrosis: an unexpected outcome

BMC Infectious Diseases, 2023
Background CHF (Congenital hepatic fibrosis) is a rare hereditary disease characterized by periportal fibrosis and ductal plate malformation. Little is known about the clinical presentations and outcome in CHF patients with an extraordinary complication ...
Jiawei Sun, Xiaoxiao Mi, Xiaoying Ye, Yiling ShenTu, Chun Liu, Dong Tang, WenJun Yang, Jie Yang, Xiaoping Ye, Xiaojie Ma, Junping Shi, Gongying Chen, Ling Gong   +12 more
doaj   +1 more source

Reduction of elevated Gli3 does not alter the progression of autosomal recessive polycystic kidney disease

Physiological Reports
Polycystic kidney diseases (PKD) are genetic disorders which disrupt kidney architecture and function. Autosomal recessive PKD (ARPKD) is a rare form of PKD, caused by mutations in PKHD1, and clinically more severe than the more common autosomal dominant
Lauren G. Russell, Maria Kolatsi‐Joannou, Laura Wilson, Jennifer C. Chandler, Nuria Perretta Tejedor, Georgie Stagg, Karen L. Price, Christopher J. Rowan, Tessa Crompton, Norman D. Rosenblum, Paul J. D. Winyard, David A. Long   +11 more
doaj   +1 more source

PKHD1 gene mutation analysis in two families of perinatal stage autosomal recessive polycystic kidney disease

Linchuang shenzangbing zazhi
Objective To analyze genetic variation in two cases of autosomal recessive polycystic kidney disease （ARPKD） and provide theoretical rationales for its early diagnosis， treatment， genetic counseling and prenatal diagnosis.
Lan Zeng, Qi-yan Wang, Yi Deng, Dan-ni Wang, Shu-yao Zhu, Jin Wang   +5 more
doaj   +1 more source

Multi-omics analysis of host-microbiome interactions in a mouse model of congenital hepatic fibrosis

BMC Microbiology
Background Congenital hepatic fibrosis (CHF) caused by mutations in the polycystic kidney and hepatic disease 1 (PKHD1) gene is a rare genetic disorder with poorly understood pathogenesis.
Mengfan Jiao, Ye Sun, Zixing Dai, Xiaoxue Hou, Xizhi Yin, Qingling Chen, Rui Liu, Yuwen Li, Chuanlong Zhu   +8 more
doaj   +1 more source

Minigene-based splice assays provide new insights on intronic variants of the PKHD1 gene

Human Genomics
Background Autosomal Recessive Polycystic Kidney Disease (ARPKD) is a rare hereditary disorder caused by variants in PKHD1. Currently, aberrant splicing has been reported to play important roles in genetic disease.
Yiyin Zhang, Ran Zhang, Xiaomeng Shi, Xuyan Liu, Changying Li, Yan Zhang, Zhi Wang, Dan Qiao, Fengjiao Pan, Bingying Zhang, Ning Xu, Bingzi Dong, Leping Shao   +12 more
doaj   +1 more source

Generation of induced pluripotent stem cells from peripheral blood mononuclear cells obtained from an adult with autosomal recessive polycystic kidney disease

Stem Cell Research, 2022
Autosomal recessive polycystic kidney disease is a hereditary fibrocystic disease that involves the kidneys and biliary tract. Its major histological presentations are the fusiform dilatation of renal collecting ducts and the malformation of the ...
Mingyang Sun, Jian Li, Shunlai Shang, Xueyuan Bai, Guangyan Cai, Qinggang Li   +5 more
doaj  

The role of next generation sequencing in the differential diagnosis of caroli’s syndrome

Balkan Journal of Medical Genetics, 2018
We report the case of a 41-year-old man on conservative treatment for more than 20 years for chronic renal insufficiency, chronic hepatitis and recurrent cholangitis.
Smolović B, Muhović D, Hodžić A, Bergant G, Peterlin B   +4 more
doaj   +1 more source