Cargando…

Functional Characterization of Novel ATP7B Variants for Diagnosis of Wilson Disease

Background: Diagnosis of rare Wilson disease (WD) in pediatric patients is difficult, in particular when hepatic manifestation is absent. Genetic analysis of ATP7B represents the single major determinant of the diagnostic scoring system in WD children having mild symptoms. Objectives: To assess the...

Descripción completa

Detalles Bibliográficos
Autores principales:	Guttmann, Sarah, Bernick, Friedrich, Naorniakowska, Magdalena, Michgehl, Ulf, Groba, Sara Reinartz, Socha, Piotr, Zibert, Andree, Schmidt, Hartmut H.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2018
Materias:	Pediatrics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5937294/ https://www.ncbi.nlm.nih.gov/pubmed/29761093 http://dx.doi.org/10.3389/fped.2018.00106

Ejemplares similares

Intragenic Deletions in ATP7B as an Unusual Molecular Genetics Mechanism of Wilson’s Disease Pathogenesis
por: Todorov, Theodor, et al.
Publicado: (2016)

ATP7B knockout disturbs copper and lipid metabolism in Caco-2 cells
por: Guttmann, Sarah, et al.
Publicado: (2020)

CRISPR/Cas9-mediated correction of mutated copper transporter ATP7B
por: Pöhler, Michael, et al.
Publicado: (2020)

Organic cation transporter 3 mediates cisplatin and copper cross-resistance in hepatoma cells
por: Guttmann, Sarah, et al.
Publicado: (2017)

Quantitative MR in Paediatric Patients with Wilson Disease: A Case Series Review
por: Janowski, Kamil, et al.
Publicado: (2022)

Longitudinal analysis of serum miR-122 in a rat model of Wilson’s disease
por: Siaj, Ramsi, et al.
Publicado: (2012)

Structure of the Wilson disease copper transporter ATP7B
por: Bitter, Ryan M., et al.
Publicado: (2022)

Early-onset Wilson disease caused by ATP7B exon skipping associated with intronic variant
por: Koboldt, Daniel C., et al.
Publicado: (2020)

Wilson’s Disease Masquerading as Juvenile Idiopathic Arthritis in an Adolescent
por: Goyal, Rajeev, et al.
Publicado: (2020)

Spectrum and Classification of ATP7B Variants in a Large Cohort of Chinese Patients with Wilson's Disease Guides Genetic Diagnosis
por: Dong, Yi, et al.
Publicado: (2016)

Wilson’s Disease: A Prevalence Study in a Portuguese Population
por: Sousa, Bebiana, et al.
Publicado: (2023)

A novel deep intronic variant in ATP7B in five unrelated families affected by Wilson disease
por: Woimant, France, et al.
Publicado: (2020)

p.P1379S, a benign variant with reduced ATP7B protein level in Wilson Disease
por: Yi, Fan, et al.
Publicado: (2020)

Prevalent Pathogenic Variants of ATP7B in Chinese Patients with Wilson’s Disease: Geographical Distribution and Founder Effect
por: Yang, Guo-Min, et al.
Publicado: (2021)

Full-length ATP7B reconstituted through protein trans-splicing corrects Wilson disease in mice
por: Padula, Agnese, et al.
Publicado: (2022)

Prevalence of ATP7B Gene Mutations in Iranian Patients With Wilson Disease
por: Zali, Narges, et al.
Publicado: (2011)

Case Report: The Association of Wilson Disease in a Patient With Ataxia and GLUT-1 Deficiency
por: Diaz, Jenna, et al.
Publicado: (2021)

Screening for Wilson’s disease in acute liver failure: A new scoring system in children
por: Feng, Cai-Xia, et al.
Publicado: (2022)

Novel mutations found in the ATP7B gene in Chinese patients with Wilson's disease
por: Qian, Zhiling, et al.
Publicado: (2019)

Genetic analysis of ATP7B in 102 south Indian families with Wilson disease
por: Singh, Nivedita, et al.
Publicado: (2019)

A Novel Mutation of ATP7B Gene in a Case of Wilson Disease
por: Kahraman, Cigdem Yuce, et al.
Publicado: (2021)

A case of Wilson disease with the ATP7B mutation presenting movement disorders
por: Van Nguyen, Huong, et al.
Publicado: (2021)

Mutation spectrum of ATP7B gene in pediatric patients with Wilson disease in Vietnam
por: Huong, Nguyen Thi Mai, et al.
Publicado: (2022)

Analysis of Wilson disease mutations in copper binding domain of ATP7B gene
por: Gul, Bushra, et al.
Publicado: (2022)

New ATP7B Gene Mutation in a Brazilian Patient with Wilson Disease
por: Barros de Oliveira Sá, Marcus Villander, et al.
Publicado: (2022)

Clinical features and familial mutations in the coexistence of Wilson's disease and Alport syndrome: A case report
por: Wang, Ying, et al.
Publicado: (2023)

Editorial: The broader aspects of non-alcoholic fatty liver disease in children
por: Mandato, Claudia, et al.
Publicado: (2022)

Wilson Disease Protein ATP7B Utilizes Lysosomal Exocytosis to Maintain Copper Homeostasis
por: Polishchuk, Elena V., et al.
Publicado: (2014)

Three novel mutations in the ATP7B gene of unrelated Vietnamese patients with Wilson disease
por: Huong, Nguyen Thi Mai, et al.
Publicado: (2018)

Genetic variation spectrum in ATP7B gene identified in Latvian patients with Wilson disease
por: Zarina, Agnese, et al.
Publicado: (2017)

Identification of mutations in the ATP7B gene in 14 Wilson disease children: Case series
por: Wang, Jiuxiang, et al.
Publicado: (2021)

Liver Involvement in Congenital Disorders of Glycosylation and Deglycosylation
por: Lipiński, Patryk, et al.
Publicado: (2021)

Truncating mutations in the Wilson disease gene ATP7B are associated with very low serum ceruloplasmin oxidase activity and an early onset of Wilson disease
por: Merle, Uta, et al.
Publicado: (2010)

ATP7B variant c.1934T > G p.Met645Arg causes Wilson disease by promoting exon 6 skipping
por: Merico, Daniele, et al.
Publicado: (2020)

Combined transgene immortalized urothelial cells capable of reprogramming and hepatic differentiation
por: Weiand, Matthias, et al.
Publicado: (2022)

Prevalence and Significance of Autoantibody Seropositivity in Children with Wilson’s Disease
por: Jańczyk, Wojciech, et al.
Publicado: (2023)

Genetic, metabolic and cellular factors influencing intracellular localization of the Wilson disease protein, ATP7B
por: Gupta, Arnab, et al.
Publicado: (2014)

Investigation of the Wilson gene ATP7B transcriptional start site and the effect of core promoter alterations
por: Höflich, Clemens, et al.
Publicado: (2021)

Mutation analysis of the ATP7B gene and genotype–phenotype correlation in Chinese patients with Wilson disease
por: Li, Mingming, et al.
Publicado: (2021)

Laboratory and clinical evaluation of a microarray for the detection of ATP7B mutations in Wilson disease in China
por: Jia, Siyu, et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_jbdvk04nd1nigiddd9lcpqoaac