Impaired glutamylation of RPGRORF15 underlies the cone-dominated phenotype associated with truncating distal ORF15 variants
Sign Up to like & getrecommendations! Published in 2022 at "Proceedings of the National Academy of Sciences of the United States of America"
DOI: 10.1073/pnas.2208707119
Abstract: Significance Retinitis pigmentosa GTPase regulator (RPGR) disease variants lead to considerable phenotypic heterogeneity in terms of relative involvement of rod and cone photoreceptors. We have identified a clear progressive shift from rod- to cone-dominating phenotypes… read more here.
Keywords: dominated phenotype; cone dominated; glutamylation; truncating distal ... See more keywords
Eosinophilic phenotype was associated with better early clinical remission in elderly patients but not middle‐aged patients with acute exacerbations of COPD
Sign Up to like & getrecommendations! Published in 2021 at "International Journal of Clinical Practice"
DOI: 10.1111/ijcp.14415
Abstract: There is limited evidence of the relationship between peripheral blood eosinophils and clinical remission of acute exacerbations of chronic obstructive pulmonary disease (AECOPD) at different ages, especially in elderly patients, which was the objective of… read more here.
Keywords: acute exacerbations; elderly patients; clinical remission; eosinophilic phenotype ... See more keywords
Oligodontia and Facial Phenotype Associated with a Rare Syndrome
Sign Up to like & getrecommendations! Published in 2022 at "Case Reports in Dentistry"
DOI: 10.1155/2022/1045327
Abstract: Introduction Oligodontia is a dental abnormality in which the patient is missing teeth. It is a hereditary disorder characterized by agenesis of more than six primary or permanent teeth, excluding the wisdom teeth. Oligodontia is… read more here.
Keywords: facial phenotype; associated rare; oligodontia facial; oligodontia ... See more keywords
A Neurodegenerative Phenotype Associated With Sjögren-Larsson Syndrome
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DOI: 10.1177/08830738211029390
Abstract: Sjögren-Larsson syndrome (SLS) is a rare neurologic disorder caused by pathogenic sequence variants in ALDH3A2 and characterized by ichthyosis, spasticity, intellectual disability, and a crystalline retinopathy. Neurologic symptoms develop in the first 2 years of… read more here.
Keywords: associated gren; neurodegenerative phenotype; larsson syndrome; gren larsson ... See more keywords
Cigarette smoke redirects Staphylococcus aureus to a virulence phenotype associated with persistent infection
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DOI: 10.1183/1393003.congress-2017.pa3323
Abstract: Tobacco smoking represents the leading preventable cause of death worldwide. Smoking is a recognised risk factor for several pathologies and is detrimental to host immune surveillance and defence. However, the impact of smoking on microbial… read more here.
Keywords: aureus virulence; staphylococcus aureus; virulence phenotype; virulence ... See more keywords
A TARP Syndrome Phenotype Is Associated with a Novel Splicing Variant in RBM10
Sign Up to like & getrecommendations! Published in 2022 at "Genes"
DOI: 10.3390/genes13112154
Abstract: TARP syndrome (Talipes equinovarus, Atrial septal defect, Robin sequence, and Persistence of the left superior vena cava) is a rare genetic condition, caused by developmental defects during embryogenesis. The phenotypic spectrum of TARP shows high… read more here.
Keywords: tarp syndrome; rbm10; tarp; phenotype associated ... See more keywords
The clinical phenotype associated with antisynthetase autoantibodies
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DOI: 10.5114/reum.2020.93505
Abstract: Objectives Specific systemic autoimmune syndrome characterized by inflammatory myopathy, arthritis or arthralgias, interstitial lung disease (ILD), fever, Raynaud’s phenomenon, and mechanic’s hands is called antisynthetase syndrome (AS). The aim of this study was to assess… read more here.
Keywords: patients patients; associated antisynthetase; presence; antisynthetase autoantibodies ... See more keywords