Results 91 to 100 of about 3,398 (180)

Role of the hepatocyte nuclear factor-1beta (HNF-1beta) C-terminal domain in Pkhd1 (ARPKD) gene transcription and renal cystogenesis.

, 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.
Hiesberger, Thomas, Shao, Xinli, Igarashi, Peter, Pontoglio, Marco, Reimann, Andreas, Gourley, Eric   +5 more
core   +1 more source

Wild type Pkhd1 in kidneys from PCK rats treated with SD exosomes.

, 2015
PCR genotype demonstrates mutant Pkhd1 in kidneys from control and treated PCK rats. Wild type Pkhd1 was found in kidneys from PCK rats treated with SD exosomes (24h after renal pelvic injection) but not in untreated rats.
Jesus H. Dominguez (764672), K. J. Kelly (764669), Ling Han (155543), Jizhong Zhang (764670), Malgorzata Kamocka (764671), Caroline Miller (286856), Vincent H. Gattone II (286857)   +6 more
core   +1 more source

Identification of Pathogenic PKHD1 Variants in Infants with Autosomal Recessive Polycystic Kidney Disease from the Dhofar Region, Oman [PDF]

Copyright: \ua9 2025 Al Alawi I et al. Background: Autosomal recessive polycystic kidney disease (ARPKD) is a rare, inherited disorder primarily affecting the kidneys and liver.
Al Maimani A, Sayer JA, Al Alawi I, Arcila Galvis JE, Pillai J, Al Awadi M, Sampson M, Al Awaid F, Al Hashmi Z   +8 more
core   +3 more sources

MyGene2 automated match report: PKHD1

, 2016
MyGene2.org is free, public, searchable & browsable website. Families with rare genetic conditions, clinicians, and researchers families who are interested in sharing health and genetic information can create MyGene2 profiles and use these to connect ...
The MyGene2 team (3237057)
core   +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

Co-Occurrence of Neurofibromatosis Type 1 and Polycystic Liver Disease: A Case of Hypertension with PKHD1 Variant. [PDF]

Am J Case Rep
BACKGROUND Neurofibromatosis type 1 (NF1) is a common genetic condition; 0.1-5.7% of patients with NF1 will develop pheochromocytomas in their lifetime. However, other causes of hypertension (HT) in young patients can be present, and polycystic liver disease is not a part of NF1 syndrome.
Thewjitcharoen Y, Nakasatien S, Veerasomboonsin V, Tsoi STF, Lim CKP, Himathongkam T.   +5 more
europepmc   +3 more sources

An investigation of the Ciliary Protein PKHD1 in Cyst development in liver disease: clues to the pathogenesis of Biliary Atresia [PDF]

, 2010
Biliary atresia is a common form of paediatric liver disease, with progressive, inflammatory obliteration of the biliary tree, leading to liver failure early in life.
Blair-Reid, Sarah Alexandra
core   +2 more sources

Pilot study using a discrete mathematical approach for topological analysis and ssGSEA of gene expression in autosomal recessive polycystic kidney disease

Scientific Reports
Autosomal recessive polycystic kidney disease (ARPKD) is a severe genetic disorder characterized by renal cystogenesis and hepatic fibrosis, primarily associated with PKHD1 mutations.
Nobuo Okui, Tsuyoshi Hachiya, Shigeo Horie   +2 more
doaj   +1 more source

多囊蛋白和纤维囊蛋白在肺癌组织中的定位分布

Zhongguo shiyan zhenduanxue, 2022
4302个氨基酸(aa),一个大的细胞外N末端,11个跨膜结构域和一个细胞内C末端;多囊蛋白-2(PC2)是一种由968个aa组成的阳离子通道,含六个跨膜结构和细胞内N-和C-末端,并能与PC1形成通道复合体和流量传感器[1]。常染色体隐性多囊肾病(ARPKD)是由多囊肾肝病1(PKHD1)基因突变引起的,PKHD1编码纤维囊蛋白(fibrocystin),它也是一种大蛋白(4074aa),具有一个长的细胞外N-末端、一个跨膜结构域和一个细胞质C-末端[2]。除了肾,多囊蛋白在其他非肾脏组织也广泛表达 ...
doaj  

Autosomal recessive polycystic kidney disease: late-onset renal enlargement and proteinuria with rare PKHD1 mutation—a case report

Egyptian Journal of Medical Human Genetics
Background Autosomal recessive polycystic kidney disease (ARPKD) is a genetically inherited pediatric disorder. It is caused by a mutation in the PKHD1 gene located on chromosome 6.
Tina Zeraati, Mohammad Reza Abbaszadegan, Anoush Azarfar, Ehsan Ghayoor Karimiani, Malihe Lotfi, Abbas Ali Zeraati   +5 more
doaj   +1 more source