Rare Protein-altering Telomere-related Gene Variants in Patients with Chronic Hypersensitivity Pneumonitis.
Sign Up to like & getrecommendations! Published in 2019 at "American journal of respiratory and critical care medicine"
DOI: 10.1164/rccm.201902-0360oc
Abstract: RATIONALE Rare genetic variants in telomere-related genes have been identified in familial, idiopathic, and rheumatoid arthritis-associated pulmonary fibrosis. Short peripheral blood leukocyte (PBL) telomere length predicts poor outcomes in chronic hypersensitivity pneumonitis (CHP). OBJECTIVES Determine… read more here.
Keywords: telomere length; chronic hypersensitivity; rare protein; telomere related ... See more keywords
Rare, Protein-Altering Variants in AS3MT and Arsenic Metabolism Efficiency: A Multi-Population Association Study
Sign Up to like & getrecommendations! Published in 2021 at "Environmental Health Perspectives"
DOI: 10.1289/ehp8152
Abstract: Background: Common genetic variation in the arsenic methyltransferase (AS3MT) gene region is known to be associated with arsenic metabolism efficiency (AME), measured as the percentage of dimethylarsinic acid (DMA%) in the urine. Rare, protein-altering variants… read more here.
Keywords: altering variants; population; study; rare protein ... See more keywords
Search for rare protein altering variants influencing susceptibility to multiple myeloma
Sign Up to like & getrecommendations! Published in 2017 at "Oncotarget"
DOI: 10.18632/oncotarget.15874
Abstract: The genetic basis underlying the inherited risk of developing multiple myeloma (MM) is largely unknown. To examine the impact of rare protein altering variants on the risk of developing MM we analyzed high-coverage exome sequencing… read more here.
Keywords: multiple myeloma; altering variants; protein altering; rare protein ... See more keywords
A Survey of Multigenic Protein-Altering Variant Frequency in Familial Exudative Vitreo-Retinopathy (FEVR) Patients by Targeted Sequencing of Seven FEVR-Linked Genes
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DOI: 10.3390/genes13030495
Abstract: While Inherited Retinal Diseases (IRDs) are typically considered rare diseases, Familial Exudative Vitreo-Retinopathy (FEVR) and Norrie Disease (ND) are more rare than retinitis pigmentosa. We wanted to determine if multigenic protein-altering variants are common in… read more here.
Keywords: fevr; exudative vitreo; familial exudative; protein altering ... See more keywords