Results 91 to 100 of about 6,030 (184)

Genetic findings in ten Ecuadorian patients with suspected Wilson’s disease

Human Genomics
Background Wilson disease is a rare autosomal recessive disorder caused by variations in ATP7B, leading to copper accumulation and multisystemic damage. Diagnosis is often delayed due to its heterogeneous clinical presentation and limited genetic data in
Vanessa I. Romero, Martina Armas Samaniego, Paúl León, Benjamín Arias-Almeida, Rino Sasaki, Yoko Iwauchi, Kazuyoshi Hosomichi   +6 more
doaj   +1 more source

Plumbagin Triggers Cuproptosis in Hepatocellular Carcinoma (HCC) via the DNA‐Methyltransferase 1 (DNMT1)/microRNA‐302a‐3p (miR‐302a‐3p)/ATPase Copper Transporting Beta (ATP7B) Axis

MedComm
Induction of cuproptosis in tumor cells is an emerging direction for cancer drug development. Plumbagin (PLB), a natural biological molecule, has anticancer activities, partially via copper‐dependent mechanisms.
Chuyu Wang, Hao Wang, Chong Wang, Tongtong Tian, Anli Jin, Yu Liu, Ran Huo, Te Liu, Baishen Pan, Wei Guo, Wenjing Yang, Beili Wang   +11 more
doaj   +1 more source

A Schizophrenia‐Spectrum Presentation with Panda Sign: Huntington's Disease Confirmed, Wilson Disease Excluded

Movement Disorders Clinical Practice, Volume 13, Issue 10, Page 2661-2662, October 2026.
Eva‐Maria Tsapakis, Georgia Zafeiridou, Elizabeth Psoma, Angelos Giannoutsos, Andreas Kiryttopoulos, Konstantinos N. Fountoulakis   +5 more
wiley   +1 more source

Pilot Clinical Study Showing Abnormal Copper Metabolism in Healthy Wilson Disease Heterozygote Subjects

Clinical and Translational Science
Wilson Disease (WD) is a rare, potentially debilitating and life‐threatening disorder of copper (Cu) metabolism, considered to be inherited in an autosomal recessive manner, since heterozygotes are healthy.
Bernard Benichou, Jean‐Philippe Combal, Peter Dogterom, Thomas D. Sandahl, Lorenzo D'Antiga, Michael Schilsky   +5 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

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

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

Wilsons Disease: Diagnostic Approach

Çukurova Üniversitesi Tıp Fakültesi Dergisi, 2015
Wilson disease (WD) is an autosomal recessive disorder of copper transport caused by mutations in the ATP7B gene that encodes a P-type copper ATPase, ATP7B.
Hakan Gelincik, Filiz Koc
doaj  

Genetic testing and exchangeable copper can improve the accuracy of Wilson disease diagnoses. [PDF]

Hepatol Commun
Berenguer M, Torra M, Espinós C, Andreu Escrivá R, Pocurull A, Carvalho-Gomes Â, Miralpeix A, Rojas Echarry G, Romero-Moreno S, Sanchez C, Silgo E, Palacios-Martínez C, Badenas C, Perez-Rojas J, Aguado Codina C, Mariño Z.   +15 more
europepmc   +1 more source

Utility of High-Throughput Genomic Analysis for Genetic Counseling in Large Family with Wilson Disease Carrying a Novel 28-bp <i>ATP7B</i> Splice-Junction Deletion. [PDF]

Diagnostics (Basel)
Hnoonual A, Pongborriboon D, Wansom N, Kietsiriroje N, Plong-On O, Limprasert P.   +5 more
europepmc   +1 more source