Here we describe a new polymorphism, located in exon 7 of the cystic fibrosis transmembrane regulator (CFTR) gene at nucleotide position 1104 (C-->G), detected by a single-strand conformational polymorphism (SSCP) analysis.
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Phenotype and genetic spectrum of six Indian patients with bestrophinopathy.
Taiwan J Ophthalmol
December 2024
Shri Bhagwan Mahavir Vitreoretinal Services, Medical Research Foundation, Sankara Nethralaya, Chennai, Tamil Nadu, India.
The aim of this study is to describe genotype and phenotype of patients with bestrophinopathy. The case records were reviewed retrospectively, findings of multimodal imaging such as color fundus photograph, optical coherence tomography (OCT), fundus autofluorescence, electrophysiological, and genetic tests were noted. Twelve eyes of six patients from distinct Indian families with molecular diagnosis were enrolled.
View Article and Find Full Text PDFKir4.1 and Aqp4 Contribution to Schisis Cystic Water Accumulation and Clearance in the Rs1 Exon-1 Del XLRS Rat Model.
Genes (Basel)
December 2024
Department of Ophthalmology, Eye Center, UC Davis School of Medicine, University of California Davis, Sacramento, CA 95817, USA.
Background/objective: The Rs1 exon-1-del rat (Rs1KO) XLRS model shows normal retinal development until postnatal day 12 (P12) when small cystic spaces start to form in the inner nuclear layer. These spaces enlarge rapidly, peak at P15, and then collapse by P19.
Methods: We explored the possible involvement of Kir4.
Systematic deletion of symmetrical exons reveals new therapeutic targets for exon skipping antisense oligonucleotides.
NAR Mol Med
October 2024
Center for Genetic Diseases, Rosalind Franklin University of Medicine and Science, 3333 Green Bay Rd, North Chicago, IL 60064, USA.
Article Synopsis
- There is a significant need for new treatments targeting diseases caused by premature termination codons (PTCs), which lead to faulty proteins.
- Splice-switching antisense oligonucleotides (ASOs) can help by inducing exon skipping, effectively removing PTCs from mRNA and potentially restoring protein function if the remaining exons are in the correct reading frame.
- The research focuses on the cystic fibrosis transmembrane regulator (CFTR) gene, demonstrating that ASOs can restore CFTR function in airway cells from individuals with PTC-causing mutations, showing the potential for ASO therapies across similar multi-exon genes.
Non pathological sweat test, pancreatic insufficiency and Cystic Fibrosis: an unusual case in a child with F508del-duplication of exons 1-3 CFTR genotype.
BMC Pediatr
November 2024
Gastroenterology and Nutrition Unit, Meyer Children's Hospital IRCCS, Florence, Italy.
While Cystic Fibrosis is characterized by a high phenotypic variability, a correlation is reported between the pancreatic status and the CFTR genotype. Here we report an unusual case of a child with Cystic Fibrosis (F508del-duplication of exons 1-3 genotype) diagnosed at 8 years old for pancreatic insufficiency and non-pathological sweat test, in absence of respiratory symptoms and acute episodes of pancreatitis. Nasal potential differences and intestinal current measurements were normal, while the short-circuit current measured on patient-derived colonoids grown on Transwell indicated the presence of a reduced CFTR-dependent current relative to non-CF colonoids with, a modest improvement of CFTR activity record following treatment with elexacaftor/tezacaftor/ivacaftor.
View Article and Find Full Text PDFTargeted RNA Sequencing of Head and Neck Adenoid Cystic Carcinoma Reveals SEC16A::NOTCH1 Fusion and MET Exon 14 Skipping as Potentially Actionable Alterations.
Head Neck Pathol
November 2024
Department of Pathology and Laboratory Medicine, Memorial Sloan Kettering Cancer Center, 1275 York Avenue, New York, NY, 10065, USA.
Purpose: Adenoid cystic carcinoma (AdCC) of the head and neck harbors MYB/MYBL1::NFIB fusions in around 60% of cases, with unfavorable long-term survival due to frequent recurrences and metastases, currently lacking effective targeted therapy. The study aims to identify actionable alterations and to elucidate the molecular underpinnings of MYB/MYBL1::NFIB-negative AdCC using a large targeted RNA sequencing panel.
Methods And Results: We retrospectively searched our MSK-Solid Fusion clinical sequencing database for head and neck AdCC sequenced between 2016 and 2023.
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