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Eales' disease with secondary coats'-like reaction: a case report.
BMC Ophthalmol
September 2024
Department of Ophthalmology, Faculty of Medicine, 1UM Eye Research Centre (UMERC), Universiti Malaya, Kuala Lumpur, Malaysia.
Background: Eales' disease is an idiopathic, inflammatory condition characterized by peripheral retinal phlebitis, distal non-perfusion, and neovascularization. Coats' disease, on the other hand, is an idiopathic, retinal vasculopathy characterized by telangiectasia and yellowish exudation. Both diseases commonly affect males.
View Article and Find Full Text PDFKey Clinical Message: The mainstays of treatment for granuloma pyogenicum include careful evaluation of any penile growth, thorough excision of the polypoid, histological examination, and close monitoring to check relapse and management.
Abstract: Pyogenic granuloma is an acquired noncancerous vascular proliferation that arises from the mucosa and skin, seldom subcutaneously or intravascularly. It is also referred to as telangiectasis granuloma or lobular capillary haemangioma.
Molecular characterization of 13 patients with PIK3CA-related overgrowth spectrum using a targeted deep sequencing approach.
Am J Med Genet A
March 2024
Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada.
Article Synopsis
- Activating mutations in the PIK3CA gene lead to a variety of disorders known as PIK3CA-related overgrowth spectrum (PROS), which includes syndromes like CLOVES and MCAP.
- The study focused on detecting mosaic variants in PIK3CA, which are challenging to identify but critical for diagnosing PROS.
- By using deep sequencing technologies, specifically the Illumina TruSight Oncology 500 panel, researchers successfully identified pathogenic mosaic variants in all patients tested, emphasizing the need for enhanced genetic screening in this area.
Functional filter for whole-genome sequencing data identifies HHT and stress-associated non-coding SMAD4 polyadenylation site variants >5 kb from coding DNA.
Am J Hum Genet
November 2023
National Heart and Lung Institute, Imperial College London, W12 ONN London, UK; National Institute for Health Research (NIHR) Imperial Biomedical Research Centre, W2 1NY London, UK; Specialist Medicine, Imperial College Healthcare NHS Trust, W12 OHS London, UK. Electronic address:
Despite whole-genome sequencing (WGS), many cases of single-gene disorders remain unsolved, impeding diagnosis and preventative care for people whose disease-causing variants escape detection. Since early WGS data analytic steps prioritize protein-coding sequences, to simultaneously prioritize variants in non-coding regions rich in transcribed and critical regulatory sequences, we developed GROFFFY, an analytic tool that integrates coordinates for regions with experimental evidence of functionality. Applied to WGS data from solved and unsolved hereditary hemorrhagic telangiectasia (HHT) recruits to the 100,000 Genomes Project, GROFFFY-based filtration reduced the mean number of variants/DNA from 4,867,167 to 21,486, without deleting disease-causal variants.
View Article and Find Full Text PDFAtaxia Telangiectasia Mutated and MSH2 Control Blunt DNA End Joining in Ig Class Switch Recombination.
J Immunol
February 2023
Biology PhD Program, The Graduate Center, The City University of New York, New York, NY.
Class-switch recombination (CSR) produces secondary Ig isotypes and requires activation-induced cytidine deaminase (AID)-dependent DNA deamination of intronic switch regions within the IgH (Igh) gene locus. Noncanonical repair of deaminated DNA by mismatch repair (MMR) or base excision repair (BER) creates DNA breaks that permit recombination between distal switch regions. Ataxia telangiectasia mutated (ATM)-dependent phosphorylation of AID at serine 38 (pS38-AID) promotes its interaction with apurinic/apyrimidinic endonuclease 1 (APE1), a BER protein, suggesting that ATM regulates CSR through BER.
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