Chances and Shortcomings of Adenovirus-Mediated ATP7B Gene Transfer in Wilson Disease: Proof of Principle Demonstrated in a Pilot Study with LEC rats

2002 ◽  
Vol 40 (4) ◽  
pp. 209-216 ◽  
Author(s):  
D Ha-Hao ◽  
U Merle ◽  
C Hofmann ◽  
H Wesch ◽  
J Doll ◽  
...  
Keyword(s):  
Pilot Study ◽  
Gene Transfer ◽  
Wilson Disease ◽  
Atp7b Gene ◽  
Lec Rats ◽  
Proof Of Principle

Chances and shortcomings of adenovirus-mediated ATP7B gene transfer in Wilson disease: Proof of principle demonstrated in a pilot study with LEC rats

2001 ◽  
Vol 120 (5) ◽  
pp. A567
Author(s):  
Duc Ha-Hao ◽  
Christian Hofmann ◽  
Horst Wesh ◽  
Josef Doll ◽  
Georg Auburger ◽  
...  
Keyword(s):  
Pilot Study ◽  
Gene Transfer ◽  
Wilson Disease ◽  
Atp7b Gene ◽  
Lec Rats ◽  
Proof Of Principle

scholarly journals A Novel Mutation of ATP7B Gene in a Case of Wilson Disease

Medicina ◽  
2021 ◽  
Vol 57 (2) ◽  
pp. 123
Author(s):  
Cigdem Yuce Kahraman ◽  
Ali Islek ◽  
Abdulgani Tatar ◽  
Özlem Özdemir ◽  
Adil Mardinglu ◽  
...  
Keyword(s):  
Wilson Disease ◽  
Novel Mutation ◽  
Molecular Genetic ◽  
Molecular Genetic Analysis ◽  
Compound Heterozygous ◽  
Atp7b Gene ◽  
Loss Of Function ◽  
Clinical Presentations ◽  
The Family ◽  
The Brain

Wilson disease (WD) (OMIM# 277900) is an autosomal recessive inherited disorder characterized by excess copper (Cu) storage in different human tissues, such as the brain, liver, and the corneas of the eyes. It is a rare disorder that occurs in approximately 1 in 30,000 individuals. The clinical presentations of WD are highly varied, primarily consisting of hepatic and neurological conditions. WD is caused by homozygous or compound heterozygous mutations in the ATP7B gene. The diagnosis of the disease is complicated because of its heterogeneous phenotypes. The molecular genetic analysis encourages early diagnosis, treatment, and the opportunity to screen individuals at risk in the family. In this paper, we reported a case with a novel, hotspot-located mutation in WD. We have suggested that this mutation in the ATP7B gene might contribute to liver findings, progressing to liver failure with a loss of function effect. Besides this, if patients have liver symptoms in childhood and/or are children of consanguineous parents, WD should be considered during the evaluation of the patients.

scholarly journals Mutational analysis of ATP7B gene in Egyptian children with Wilson disease: 12 novel mutations

2008 ◽  
Vol 53 (8) ◽  
pp. 681-687 ◽  
Author(s):  
Tawhida Y. Abdelghaffar ◽  
Solaf M. Elsayed ◽  
Ezzat Elsobky ◽  
Bettina Bochow ◽  
Janine Büttner ◽  
...  
Keyword(s):  
Wilson Disease ◽  
Mutational Analysis ◽  
Atp7b Gene ◽  
Novel Mutations ◽  
Egyptian Children

scholarly journals A Case Report and Literature Review of Wilson Disease

2020 ◽  
Vol 4 (3) ◽  
Author(s):  
Panpan Chen ◽  
Yingying Zhang ◽  
Linqing Qiu ◽  
Xinxin Yu
Keyword(s):  
Wilson Disease ◽  
Clinical Characteristics ◽  
Clinical Manifestations ◽  
Gene Mutations ◽  
Hereditary Disease ◽  
Abnormal Liver Function ◽  
Atp7b Gene ◽  
Literature Reference ◽  
Urinary Copper

To investigate the clinical characteristics, auxiliary examination and treatment of Wilson’s disease(WD). The clinical data of a child with WD were summarized and analyzed comprehensively in conjunction with the literature reference. WD is a hereditary disease with a large age span, diverse early symptoms, high misdiagnosis rate, abnormal liver function, decreased ceruloplasmin, increased urinary copper, K-F rings, ATP7B gene mutation, ATP7B gene mutations, and abnormalities in abdominal and cranial brain imaging, which can be clearly diagnosed and require lifelong treatment. WD can be diagnosed according to the clinical manifestations and auxiliary examination to reduce misdiagnosis. The timely diagnosis and treatment will improve the prognosis the quality of life.

Characterization of the Molecular Defect in the ATP7B Gene in Wilson Disease Patients from Yugoslavia

2003 ◽  
Vol 7 (2) ◽  
pp. 107-112 ◽  
Author(s):  
Georgios Loudianos ◽  
Vladimir Kostic ◽  
Paola Solinas ◽  
Mario Lovicu ◽  
Valeria Dessì ◽  
...  
Keyword(s):  
Wilson Disease ◽  
Molecular Defect ◽  
Atp7b Gene
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