Wilson disease is an autosomal recessive disorder caused by defective function of the copper transporting protein ATP7B. Approximately 520 Wilson disease-causing mutations have been described to date. In this study we report the use of DNA and RNA analysis for molecular characterization of a gross deletion of the ATP7B gene detected in homozygosity in a Wilson disease patient. The c.51+384_1708-953del mutation spans an 8798 bp region of the ATP7B gene from exon 2 to intron 4. The results obtained suggest that the combination of DNA and RNA analyses can be used for molecular characterization of gross ATP7B deletions, thus improving genetic counselling and diagnosis of Wilson disease. Moreover these studies, help to better establish the molecular mechanisms producing Wilson disease.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1016/j.mcp.2011.07.003 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Procalcitonin-guided duration of antibiotic treatment in children hospitalised with confirmed or suspected bacterial infection in the UK (BATCH): a pragmatic, multicentre, open-label, two-arm, individually randomised, controlled trial.
Lancet Child Adolesc Health
January 2025
Department of Infectious Diseases, Alder Hey Children's NHS Foundation Trust, Liverpool, UK; Department of Clinical Infection, Microbiology, and Immunology, Institute of Infection, Veterinary, and Ecological Sciences, University of Liverpool, Liverpool, UK. Electronic address:
Background: Procalcitonin is a rapid response biomarker specific for bacterial infection, which is not routinely used in the UK National Health Service. We aimed to assess whether using a procalcitonin-guided algorithm would safely reduce the duration of antibiotic therapy compared with usual care, in which C-reactive protein is the commonly used biomarker.
Methods: The BATCH trial was a pragmatic, multicentre, open-label, parallel, two-arm, individually randomised, controlled trial conducted in 15 hospitals in England and Wales.
Proposal and exploration of a novel score to quantify patient-perceived burden of inflammatory bowel disease under routine care.
Intern Med J
January 2025
Crohn's Colitis Cure, Sydney, New South Wales, Australia.
Background: The burden of inflammatory bowel disease (IBD) is often reported on from a system or cost viewpoint. We created and explored a novel patient-perceived burden of disease (PPBoD) score in a large Australasian cohort.
Aim: To create and explore a novel patient-perceived burden of disease (PPBoD) score in a large Australasian cohort, and correlate PPBoD scores with demographics, disease and treatment factors.
The relationship between psychological resilience, perceived social support, acceptance of illness and mindfulness in patients with hepatolenticular degeneration.
Sci Rep
January 2025
Department of General Surgery, Center for Obesity and Metabolic Health, The Third People's Hospital of Chengdu, The Affiliated Hospital of Southwest Jiaotong University, Chengdu, China.
To investigates the current status of mindfulness in patients with Wilson's disease (WD) and to explore the effects of psychological resilience, perceived social support, and acceptance of illness on their mindfulness. By using the convenient sampling method, 136 patients with WD were selected from May 2019 to January 2023 in 12 tertiary hospitals in Chengdu. General information questionnaire, five facet mindfulness scale, resilience scale, acceptance of illness and perceived social support scale were used to conduct the investigation.
View Article and Find Full Text PDFCoronavirus disease 2019 (COVID-19) poses significant risks for solid organ transplant recipients, who have atypical but poorly characterized immune responses to infection. We aim to understand the host immunologic and microbial features of COVID-19 in transplant recipients by leveraging a prospective multicenter cohort of 86 transplant recipients age- and sex-matched with 172 non-transplant controls. We find that transplant recipients have higher nasal SARS-CoV-2 viral abundance and impaired viral clearance, and lower anti-spike IgG levels.
View Article and Find Full Text PDFOutcomes associated with local treatment of nasal planum squamous cell carcinoma in dogs: 89 cases (2003-2020).
J Am Vet Med Assoc
January 2025
2Department of Surgical and Radiological Sciences, School of Veterinary Medicine, University of California-Davis, Davis, CA.
Objective: To describe the clinical characteristics, treatments, complications, and outcomes in dogs with nasal planum squamous cell carcinoma (SCC) undergoing local treatment.
Methods: A retrospective, multi-institutional study was performed. Medical records were searched to identify dogs diagnosed with nasal planum SCC.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!