Results 111 to 120 of about 8,657 (242)

Generation of an induced pluripotent stem cell line from a Wilson’s disease patient carrying both c.2333G > T and c.2621C > T mutations

Stem Cell Research
Wilson’s disease (WD) is an autosomal recessive genetic disorder caused by the mutation of ATP7B gene encoding ATP7B protein (copper ion transporter ATPase β peptide).
Danni Zhou, Jun Su, Jue Wang, Hao Wang, Lin Zhang, Fengquan Zhou, Lin Zhou, Shusen Zheng, Tingyu Gong, Ping Liang   +9 more
doaj   +1 more source

Living donor liver transplantation for Wilson’s disease from a compound heterozygote donor with a low ceruloplasmin level: a case report

Transplantation Reports
Wilson’s disease (WD) is an autosomal recessive disorder resulting from mutations in the ATP7B gene. When chelation therapy proves ineffective, liver transplantation serves as the definitive treatment option.
Hsin-Yen Chou, Chia-Feng Yang, Cheng-Yen Chen, Hsin-Lin Tsai, Hao-Jan Lei, Yi-Fan Tsou, Fang-Cheng Kuo, Meng-Hsuan Chung, Cheng-Yuan Hsia, Shu-Cheng Chou, Shen-Chih Wang, Chin-Su Liu, Niang-Cheng Lin   +12 more
doaj   +1 more source

The Structure of Metal Binding Domain 1 of the Copper Transporter ATP7B Reveals Mechanism of a Singular Wilson Disease Mutation [PDF]

, 2018
Corey H. Yu, Woonghee Lee, Sergiy Nokhrin, Oleg Y. Dmitriev   +3 more
openalex   +1 more source

Generation of an integration-free induced pluripotent stem cell (iPSC) line (ZZUNEUi005-A) from a Wilson's disease patient harboring a homozygous Pro992Leu mutation in ATP7B gene

, 2020
Liting Wei, Jiwei Zhang, Dingbang Chen, Li Feng, Chao Wu, Rui Wang, Xunhua Li   +6 more
openalex   +1 more source

ATP7B Mediates Vesicular Sequestration of Copper: Insight Into Biliary Copper Excretion [PDF]

, 2006
Michael A. Cater, Sharon La Fontaine, Kristy Shield, Yolanda Deal, Julian F. B. Mercer   +4 more
openalex   +1 more source

Next-Generation Sequencing of Chinese Children with Congenital Hearing Loss Reveals Rare and Novel Variants in Known and Candidate Genes

Biomedicines
Background: Hearing loss (HL) is the most common disorder in newborns with a highly heterogeneous genetic background. Despite significant progress in screening and identifying genes related to congenital hearing loss, there are still candidate genes ...
Yuan Jin, Xiaozhou Liu, Qiong Zhang, Ying Xiong, Yao Hu, Haixia He, Wei Chen, Yu Sun   +7 more
doaj   +1 more source

Issue Information

The Kaohsiung Journal of Medical Sciences, Volume 42, Issue 1, January 2026.
wiley   +1 more source

The six metal binding domains in human copper transporter, ATP7B: molecular biophysics and disease-causing mutations [PDF]

, 2017
Candan Ariöz, Yaozong Li, Pernilla Wittung‐Stafshede   +2 more
openalex   +1 more source

ATP7B geen: mutatsioonispekter Eesti Geenivaramu kohordis

, 2020
Wilsoni tõbi on autosoom-retsessiivne haigus, mida põhjustab defekt ATP7B geenis. Haigus on varakult alustatud raviga täiesti kontrollitav, kuid ravimata jätmisel võib tulemus olla elukvaliteeti oluliselt halvendav või letaalne. Samas on seniseid üldisi levimusandmeid arvestades põhjust arvata, et Wilsoni tõbi on ka Eestis pigem aladiagnoositud.
openaire   +1 more source

Retromer retrieves the Wilson Disease protein, ATP7B from lysosomes in a copper-dependent mode [PDF]

, 2020
Santanu Das, Saptarshi Maji, Ruturaj, Indira Bhattacharya, Tanusree Saha, Arnab Gupta   +5 more
openalex   +1 more source