Mutational analysis of ATP7B in north Chinese patients with Wilson disease
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Summary
This study examined ATP7B for mutations in 114 individuals of Chinese Han population living in north China who were diagnosed as Wilson disease and identified 36 mutations and 11 single-nucleotide polymorphisms (SNPs), of which 14 mutations have never been reported previously and 5 were firstly described in Chinese.
- Type
- article
- Published
- 2012-12-13
- Cited by
- 34
- References
- 45
- Access
- Open access
- OpenAlex
- https://openalex.org/W23235335
- Semantic Scholar
- https://api.semanticscholar.org/CorpusID:6361296
Keywords
Environmental science
References
- Molecular pathology and haplotype analysis of Wilson disease in Mediterranean populations.
- Wilson disease: identification of two novel mutations and clinical correlation in Eastern Chinese patients.
- Multiple Sequence Alignment Using ClustalW and ClustalX
- Genetic variation in the promoter and 5′ UTR of the copper transporter, ATP7B, in patients with Wilson disease
- The Human Gene Mutation Database (HGMD) and Its Exploitation in the Study of Mutational Mechanisms
- Mutation spectrum and polymorphisms in ATP7B identified on direct sequencing of all exons in Chinese Han and Hui ethnic patients with Wilson's disease
- PROGRESSIVE LENTICULAR DEGENERATION : A FAMILIAL NERVOUS DISEASE ASSOCIATED WITH CIRRHOSIS OF THE LIVER.
- Identification of novel ATP7B gene mutations and their functional roles in Korean patients with Wilson disease
- Using SIFT and PolyPhen to Predict Loss-of-Function and Gain-of-Function Mutations
- Wilson Disease: Pathogenesis and Clinical Considerations in Diagnosis and Treatment
- Mutation analysis of 73 southern Chinese Wilson's disease patients: identification of 10 novel mutations and its clinical correlation
- ATP7B antisense oligodeoxynucleotides increase the cisplatin sensitivity of human ovarian cancer cell line SKOV3ipl
- Rapid diagnosis of Wilson disease by a 28-mutation panel: real-time amplification refractory mutation system in diagnosing acute Wilsonian liver failure.
- The Wilson disease gene is a putative copper transporting P–type ATPase similar to the Menkes gene
- Mutational analysis of 65 Wilson disease patients in Hong Kong Chinese: Identification of 17 novel mutations and its genetic heterogeneity
- Genetic polymorphisms of copper- and platinum drug-efflux transporters ATP7A and ATP7B in Japanese cancer patients.
- Analysis of most common mutations R778G, R778L, R778W, I1102T and H1069Q in Indian Wilson disease patients: Correlation between genotype/phenotype/copper ATPase activity
- Association between the c. 2495 A>G ATP7B Polymorphism and Sporadic Alzheimer's Disease
- The Wilson disease gene: spectrum of mutations and their consequences
- Mutational analysis of ATP7B and genotype–phenotype correlation in Japanese with Wilson's disease
Cited by
- Defective roles of ATP7B missense mutations in cellular copper tolerance and copper excretion.
- Targeted next-generation sequencing of the ATP7B gene for molecular diagnosis of Wilson disease.
- Currently Clinical Views on Genetics of Wilson's Disease
- Noninvasive prenatal testing for Wilson disease by use of circulating single-molecule amplification and resequencing technology (cSMART).
- A special case of recurrent gross hematuria: Answers
- Mutational characterization of ATP7B gene in 103 Wilson’s disease patients from Southern China: identification of three novel mutations
- Wilson Disease in the South Chinese Han Population
- Functional analysis and drug response to zinc and D-penicillamine in stable ATP7B mutant hepatic cell lines.
- Hemolytic anemia as first presentation of Wilson's disease with uncommon ATP7B mutation.
- Mutational analysis of ATP7B in Chinese Wilson disease patients.
- Spectrum of ATP7B mutations and genotype–phenotype correlation in large‐scale Chinese patients with Wilson Disease
- Genetic analysis of 55 northern Vietnamese patients with Wilson disease: seven novel mutations in ATP7B
- Production of Wilson Disease Model Rabbits with Homology-Directed Precision Point Mutations in the ATP7B Gene Using the CRISPR/Cas9 System
- Complex ATP7B mutation patterns in Wilson disease and evaluation of a yeast model for functional analysis of variants
- Clinical features and mutational analysis in 114 young children with Wilson disease from South China
- Challenges in molecular diagnosis of Wilson disease: viewpoint from the clinical laboratory
- Genetic Disorders Associated with Metal Metabolism
- Management Perspective of Wilson’s Disease: Early Diagnosis and Individualized Therapy
- Wilson disease patient with rare heterozygous mutations in ATP7B accompanied by distinctive nocturnal enuresis
- Prevalent Pathogenic Variants of ATP7B in Chinese Patients with Wilson’s Disease: Geographical Distribution and Founder Effect
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