Objective: The genetic variation underlying facioscapulohumeral muscular dystrophy (FSHD), 1 of the most common hereditary neuromuscular disorders, is complex, and associated with the contraction of a repeat array (D4Z4) at the subtelomeric end of chromosome 4q. Nonpathogenic variants of 4q and the presence of a homologous array on chromosome 10q make FSHD diagnosis extremely challenging, at least in individuals with nonstandard D4Z4 arrays. We aimed to improve FSHD molecular analysis by proposing an alternative technique to the Southern blot.
Methods: We applied molecular combing (MC) to directly visualize allelic combinations associated with FSHD.
Results: MC enabled the accurate diagnosis of 32 FSHD patients. Unreported haplotypes and rearrangements, as well as somatic mosaicism, which is common in the 10 to 30% of cases that are sporadic, were detectable by MC.
Interpretation: MC enables the detailed exploration of the FSHD locus and accurate diagnosis of FSHD, the first Mendelian disease to benefit from this technique. MC is also likely to be applicable to other copy number-variant or repeat expansion-associated human diseases.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1002/ana.22513 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
The role of DDR1 in cancer and the progress of its selective inhibitors.
Bioorg Chem
January 2025
Department of pharmacy, Nanjing Drum Tower Hospital, Nanjing, Jiangsu Province 210008, China. Electronic address:
Discoidin domain receptor 1 (DDR1) is a member of the receptor tyrosine kinase superfamily, which mainly activates downstream signaling pathways through binding to collagen. The abnormal expression of DDR1 is closely related to the occurrence and development of various tumors, and it is one of the potential targets for molecular targeted therapy. At present, specific antibodies and selective small molecule inhibitors against DDR1 have been approved for Phase I clinical trials.
View Article and Find Full Text PDFFLASH radiotherapy combined with immunotherapy: From biological mechanisms to blockbuster therapeutics.
Transl Oncol
January 2025
Department of Radiation Oncology, National Cancer Center/National Clinical Research Center for Cancer/Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, No. 17 Panjiayuan Nanli, Chaoyang District, Beijing 100021, China. Electronic address:
Article Synopsis
- FLASH ultra-high dose rate radiotherapy (RT) minimizes damage to normal tissues while effectively targeting tumors, resulting in a marked difference in treatment outcomes, commonly referred to as the FLASH effect.* -
- Various hypotheses explain the FLASH effect, such as oxygen depletion and immune protection, and recent studies suggest combining FLASH RT with immune checkpoint inhibitors (ICIs) could enhance immune responses against tumors.* -
- Despite its potential, the integration of FLASH RT with ICI therapy faces challenges like technical issues and lack of comprehensive data, indicating a need for further research in this area.*
A novel virus potentially evolved from the N4-like viruses represents a unique viral family: .
Appl Environ Microbiol
December 2024
College of Marine Life Sciences, MoE Key Laboratory of Evolution & Marine Biodiversity, Institute of Evolution and Marine Biodiversity, Frontiers Science Center for Deep Ocean Multispheres and Earth System, Center for Ocean Carbon Neutrality, Ocean University of China, Qingdao, China.
Unlabelled: are widely distributed in marine extreme habitats and exhibit diverse extracellular protease activity, which is essential for marine biogeochemical cycles. However, our understanding of viruses that infect remains limited. This study isolated a virus infecting from Xiaogang in Qingdao, China.
View Article and Find Full Text PDFPrevalence of pediculosis among primary school children in Tunisia.
East Mediterr Health J
September 2024
Medical and Molecular Parasitology-Mycology Laboratory, Department of Clinical Biology B, Faculty of Pharmacy, University of Monastir, Tunisia.
Article Synopsis
- Study aims to investigate head lice prevalence among primary school children in Monastir, Tunisia, due to its global health impact and lack of local research.
- A total of 2396 children from 14 schools were examined, revealing a 17.5% infestation rate, significantly higher in girls (29.1%) compared to boys (6.3%).
- Factors such as crowded living conditions, grade level, and parents' education were linked to higher infestation risk, underlining the need for preventive measures and health programs targeting children and their communities.
Magnetic Resonance Elastography Combined With PI-RADS v2.1 for the Identification of Clinically Significant Prostate Cancer.
J Magn Reson Imaging
November 2024
Department of Radiology, West China Hospital of Sichuan University, Chengdu, China.
Background: Multiparametric MRI may cause overdiagnosis of clinically significant prostate cancer (csPCa) with the Prostate Imaging Reporting and Data System version 2.1 (PI-RADS v2.1).
View Article and Find Full Text PDFWant 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!