Zobrazeno 1 - 10
of 670
pro vyhledávání: '"ARPKD"'
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-14 (2024)
Abstract Polycystic liver disease (PLD) is a rare condition observed in three genetic diseases, including autosomal dominant polycystic liver disease (ADPLD), autosomal dominant polycystic kidney disease (ADPKD), and autosomal recessive polycystic ki
Externí odkaz:
https://doaj.org/article/a3eba0ec95c24e099854465adf2e1b89
Autor:
Mariam E. Alhaddad, Anwar Mohammad, Khadija M. Dashti, Sumi Elsa John, Yousif Bahbahani, Mohamed Abu-Farha, Jehad Abubaker, Thangavel Alphonse Thanaraj, Laila Bastaki, Fahd Al-Mulla, Mohammad Al-Ali, Hamad Ali
Publikováno v:
Heliyon, Vol 10, Iss 13, Pp e33898- (2024)
Background: Autosomal recessive polycystic kidney disease (ARPKD), a rare genetic disorder characterized by kidney cysts, shows complex clinical and genetic heterogeneity. This study aimed to explore the genetic landscape of ARPKD in Kuwait and exami
Externí odkaz:
https://doaj.org/article/1c6d43402608422f869612c63bcc2821
Autor:
Huicheng Chen, Zhimao Wu, Ziwei Yan, Chuan Chen, Yingying Zhang, Qiaoling Wang, Yuqing Gao, Kun Ling, Jinghua Hu, Qing Wei
Publikováno v:
Advanced Science, Vol 11, Iss 24, Pp n/a-n/a (2024)
Abstract Serving as the cell's sensory antennae, primary cilia are linked to numerous human genetic diseases when they malfunction. DZIP1L, identified as one of the genetic causes of human autosomal recessive polycystic kidney disease (ARPKD), is an
Externí odkaz:
https://doaj.org/article/0a1206e7f6ff438d9038c6e5eef5f281
Publikováno v:
Frontiers in Molecular Biosciences, Vol 11 (2024)
Externí odkaz:
https://doaj.org/article/b01236b97bd0401bab9efc29bce9e0ec
Publikováno v:
Frontiers in Pediatrics, Vol 12 (2024)
Externí odkaz:
https://doaj.org/article/aac11d66a76b48eeb6c49c7ade90242d
Akademický článek
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Publikováno v:
Livers, Vol 3, Iss 3, Pp 331-346 (2023)
Congenital hepatic fibrosis/Autosomal recessive polycystic kidney disease (CHF/ARPKD) is an inherited neonatal disease induced by mutations in the PKHD1 gene and characterized by cysts and robust pericystic fibrosis in the liver and kidneys. The PCK
Externí odkaz:
https://doaj.org/article/8573c72cabd44c818e49c336e22ee0af
Assessing the potential of DZIP1L gene in autosomal recessive polycystic kidney disease gene therapy
Autor:
Fahreddin Palaz
Publikováno v:
Pediatric Discovery, Vol 2, Iss 1, Pp n/a-n/a (2024)
Externí odkaz:
https://doaj.org/article/f030b5451e7d46cf8affc5a9250837dd
Autor:
Naoe Harafuji, Chaozhe Yang, Maoqing Wu, Girija Thiruvengadam, Heather Gordish-Dressman, R. Griffin Thompson, P. Darwin Bell, Avi Z. Rosenberg, Claudia Dafinger, Max C. Liebau, Zsuzsanna Bebok, Ljubica Caldovic, Lisa M. Guay-Woodford
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 11 (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
Externí odkaz:
https://doaj.org/article/30852107202d4088b3304c8e12f24d6b
Publikováno v:
JK Science, Vol 25, Iss 4 (2023)
ARPKD is a rare, infantile form of PCKD. It's a Ciliopathic disorder with multi-organ involvement. The pathognomonic features are predominately seen in the kidneys and liver. We herein report a case of ARPKD that presented in an antenatal mother whos
Externí odkaz:
https://doaj.org/article/861f98cad88043119a84f4d57ac3f037