Genetic studies discover novel coding and non-coding mutations in patients with Wilson's disease in China.
Sign Up to like & getrecommendations! Published in 2022 at "Journal of clinical laboratory analysis"
DOI: 10.1002/jcla.24459
Abstract: OBJECTIVES Wilson disease (WD) is a rare autosomal recessive genetic disorder associated with various mutations in the ATP7B gene and leads to significant disability or death if untreated. Early diagnosis and proper therapy usually predict… read more here.
Keywords: atp7b gene; studies discover; genetic studies; wilson disease ... See more keywords
Transcranial sonography changes in heterozygotic carriers of the ATP7B gene
Sign Up to like & getrecommendations! Published in 2020 at "Neurological Sciences"
DOI: 10.1007/s10072-020-04378-6
Abstract: Wilson’s disease (WD) is an autosomal recessive disorder of ATP7B gene leading to impaired copper metabolism. Brain imaging, such as magnetic resonance (MR) and transcranial sonography (TCS) in WD patients, shows changes mostly in the… read more here.
Keywords: atp7b gene; heterozygotic carriers; transcranial sonography; hyperechogenicity ... See more keywords
Correlation of ATP7B gene mutations with clinical phenotype and radiological features in Indian Wilson disease patients.
Sign Up to like & getrecommendations! Published in 2021 at "Acta neurologica Belgica"
DOI: 10.1007/s13760-021-01816-w
Abstract: INTRODUCTION Wilson disease (WD) is characterized by a wide variety of clinical manifestations. Our study aimed to correlate genotype with clinical and radiological features in Indian WD patients. METHODS We conducted a descriptive observational study… read more here.
Keywords: radiological features; atp7b gene; disease; features indian ... See more keywords
Generation of ZJUi003-A, an induced pluripotent stem cell line from a Wilson's disease patient carrying a c.180_181del mutation in ATP7B gene.
Sign Up to like & getrecommendations! Published in 2020 at "Stem cell research"
DOI: 10.1016/j.scr.2020.101873
Abstract: Wilson's disease (WD) is an inherited autosomal recessive disease, which is caused by the mutation of ATP7B gene encoding copper-transporting ATPase protein. The WD patients always suffer from the excessive copper deposition in the liver… read more here.
Keywords: atp7b gene; disease; stem cell; induced pluripotent ... See more keywords
Identification and characterization of a novel 43-bp deletion mutation of the ATP7B gene in a Chinese patient with Wilson’s disease: a case report
Sign Up to like & getrecommendations! Published in 2018 at "BMC Medical Genetics"
DOI: 10.1186/s12881-018-0567-z
Abstract: BackgroundWilson’s disease (WD) is an autosomal recessive disorder characterized by copper accumulation. ATP7B gene mutations lead to ATP7B protein dysfunction, which in turn causes Wilson’s disease.Case presentationWe describe a male case of Wilson’s disease diagnosed… read more here.
Keywords: wilson disease; deletion; atp7b gene; mutation ... See more keywords
Analysis of Wilson disease mutations in copper binding domain of ATP7B gene
Sign Up to like & getrecommendations! Published in 2022 at "PLoS ONE"
DOI: 10.1371/journal.pone.0269833
Abstract: Wilson’s disease (WD) is an autosomal recessive disorder, resulting from variations in ATP7B gene. Clinical heterogeneity, including neuropsychiatric and hepatic manifestations over a large range of age groups make diagnosis difficult. Most of WD patients… read more here.
Keywords: disease; atp7b gene; analysis wilson; wilson disease ... See more keywords