DOORS syndrome is an autosomal recessive genetic neurometabolic disorder. It occurs equally in men and women. Major causes include TBC1D 24 mutations and genetic factors. Here, we discuss a 23-year-old male patient who applied to our clinic with anonychia of the toes and was diagnosed with DOORS syndrome with other accompanying clinical symptoms.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9455087 | PMC |
| http://dx.doi.org/10.4103/ijd.ijd_676_21 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Mesenchymal Stromal Cell Exosome-Induced Vascular Regeneration in a PCOS Mouse Model.
Reprod Sci
October 2024
Department of Clinical Laboratory, Hangzhou Women's Hospital (Hangzhou Maternity and Child Health Care Hospital), Hangzhou, 310008, Zhejiang, China.
The efficacy of Bone Marrow Mesenchymal Stem Cell-derived Exosomes (BMSCs-Exo) in addressing the complexities of Polycystic Ovary Syndrome (PCOS) has been explored in a controlled experimental study using a DHEA-induced PCOS model in 6-8-week-old female NMRI mice. This research undertook an in vivo approach with fifteen female murine subjects to investigate the potential of BMSCs-Exo in promoting vascular regeneration and alleviating the adverse effects associated with PCOS. Through a strategic intervention, the study aimed to modulate the pathophysiological markers of oxidative stress and inflammation that are hallmark features of PCOS.
View Article and Find Full Text PDFThe p. S178L mutation in Tbc1d24 disrupts endosome-mediated synaptic vesicle trafficking of cochlear hair cells and leads to hearing impairment in mice.
Clin Genet
January 2025
Department of Otolaryngology-Head and Neck Surgery, Shanghai Ninth People's Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China.
Article Synopsis
- The study focuses on the role of TBC1D24 in cochlear inner hair cells and how its mutation (p.S178L) leads to hearing loss.
- Researchers created a knockout mouse model to observe the effects of this mutation, which resulted in mild hearing loss and issues with auditory signals.
- Findings indicate that TBC1D24 is crucial for proper vesicle recycling in hair cell synapses, as the mutation causes accumulation of endosome-like structures and reduced exocytosis in inner hair cells.
Interaction between the TBC1D24 TLDc domain and the KIBRA C2 domain is disrupted by two epilepsy-associated TBC1D24 missense variants.
J Biol Chem
September 2024
Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Maryland, USA. Electronic address:
Article Synopsis
- Mutations in the TBC1D24 gene are linked to various conditions like deafness, epilepsy, and DOORS syndrome, but how these mutations lead to different health issues is still unclear.
- Researchers conducted a study to identify new protein partners of TBC1D24 and discovered that it interacts with KIBRA, a scaffold protein involved in cognitive functions and the Hippo signaling pathway.
- Specific mutations in the TLDc domain of TBC1D24 can disrupt its interaction with KIBRA, revealing a potential link between TBC1D24 and epilepsy, suggesting that this interaction is crucial for reducing epilepsy risk.
Dominantly acting variants in ATP6V1C1 and ATP6V1B2 cause a multisystem phenotypic spectrum by altering lysosomal and/or autophagosome function.
HGG Adv
October 2024
Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, 00161 Rome, Italy. Electronic address:
The vacuolar H-ATPase (V-ATPase) is a functionally conserved multimeric complex localized at the membranes of many organelles where its proton-pumping action is required for proper lumen acidification. The V-ATPase complex is composed of several subunits, some of which have been linked to human disease. We and others previously reported pathogenic dominantly acting variants in ATP6V1B2, the gene encoding the V1B2 subunit, as underlying a clinically variable phenotypic spectrum including dominant deafness-onychodystrophy (DDOD) syndrome, Zimmermann-Laband syndrome (ZLS), and deafness, onychodystrophy, osteodystrophy, intellectual disability, and seizures (DOORS) syndrome.
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!