Matches in SemOpenAlex for { <https://semopenalex.org/work/W4379471256> ?p ?o ?g. }
Showing items 1 to 96 of
96
with 100 items per page.
- W4379471256 abstract "Introduction: Telomeropathies are associated with a wide range of diseases and less common combinations of various pulmonary and extrapulmonary disorders.Case presentation: In proband with high-risk myelodysplastic syndrome and interstitial pulmonary fibrosis, whole exome sequencing revealed a germline heterozygous variant of CTC1 gene (c.1360delG). This frameshift variant results in a premature stop codon and is classified as likely pathogenic/pathogenic. So far, this gene variant has been described in a heterozygous state in adult patients with hematological diseases such as idiopathic aplastic anemia or paroxysmal nocturnal hemoglobinuria, but also in interstitial pulmonary fibrosis. Described CTC1 gene variant affects telomere length and leads to telomeropathies.Conclusions: In our case report, we describe a rare case of coincidence of pulmonary fibrosis and hematological malignancy caused by a germline gene mutation in CTC1. Lung diseases and hematologic malignancies associated with short telomeres do not respond well to standard treatment." @default.
- W4379471256 created "2023-06-07" @default.
- W4379471256 creator A5036364963 @default.
- W4379471256 creator A5042672780 @default.
- W4379471256 creator A5059253104 @default.
- W4379471256 creator A5071015212 @default.
- W4379471256 creator A5077405177 @default.
- W4379471256 creator A5089051541 @default.
- W4379471256 creator A5091446482 @default.
- W4379471256 creator A5092094201 @default.
- W4379471256 date "2023-06-05" @default.
- W4379471256 modified "2023-10-18" @default.
- W4379471256 title "Germline variant of <em>CTC1</em> gene in a patient with pulmonary fibrosis and myelodysplastic syndrome" @default.
- W4379471256 cites W1550434764 @default.
- W4379471256 cites W1972163403 @default.
- W4379471256 cites W1973305610 @default.
- W4379471256 cites W1980321103 @default.
- W4379471256 cites W1988184131 @default.
- W4379471256 cites W2054430778 @default.
- W4379471256 cites W2057046347 @default.
- W4379471256 cites W2087011288 @default.
- W4379471256 cites W2100031402 @default.
- W4379471256 cites W2160185049 @default.
- W4379471256 cites W2168718017 @default.
- W4379471256 cites W2169157966 @default.
- W4379471256 cites W2340502977 @default.
- W4379471256 cites W2601061824 @default.
- W4379471256 cites W2759702861 @default.
- W4379471256 cites W2899622243 @default.
- W4379471256 cites W2924365553 @default.
- W4379471256 cites W2945194311 @default.
- W4379471256 cites W3037961274 @default.
- W4379471256 cites W3090851370 @default.
- W4379471256 cites W4283271244 @default.
- W4379471256 doi "https://doi.org/10.4081/mrm.2023.909" @default.
- W4379471256 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/37404458" @default.
- W4379471256 hasPublicationYear "2023" @default.
- W4379471256 type Work @default.
- W4379471256 citedByCount "0" @default.
- W4379471256 crossrefType "journal-article" @default.
- W4379471256 hasAuthorship W4379471256A5036364963 @default.
- W4379471256 hasAuthorship W4379471256A5042672780 @default.
- W4379471256 hasAuthorship W4379471256A5059253104 @default.
- W4379471256 hasAuthorship W4379471256A5071015212 @default.
- W4379471256 hasAuthorship W4379471256A5077405177 @default.
- W4379471256 hasAuthorship W4379471256A5089051541 @default.
- W4379471256 hasAuthorship W4379471256A5091446482 @default.
- W4379471256 hasAuthorship W4379471256A5092094201 @default.
- W4379471256 hasBestOaLocation W43794712561 @default.
- W4379471256 hasConcept C104317684 @default.
- W4379471256 hasConcept C109825262 @default.
- W4379471256 hasConcept C126322002 @default.
- W4379471256 hasConcept C13514818 @default.
- W4379471256 hasConcept C188997412 @default.
- W4379471256 hasConcept C203014093 @default.
- W4379471256 hasConcept C2777346216 @default.
- W4379471256 hasConcept C2777714996 @default.
- W4379471256 hasConcept C2781244666 @default.
- W4379471256 hasConcept C501734568 @default.
- W4379471256 hasConcept C502942594 @default.
- W4379471256 hasConcept C54355233 @default.
- W4379471256 hasConcept C71924100 @default.
- W4379471256 hasConcept C86803240 @default.
- W4379471256 hasConceptScore W4379471256C104317684 @default.
- W4379471256 hasConceptScore W4379471256C109825262 @default.
- W4379471256 hasConceptScore W4379471256C126322002 @default.
- W4379471256 hasConceptScore W4379471256C13514818 @default.
- W4379471256 hasConceptScore W4379471256C188997412 @default.
- W4379471256 hasConceptScore W4379471256C203014093 @default.
- W4379471256 hasConceptScore W4379471256C2777346216 @default.
- W4379471256 hasConceptScore W4379471256C2777714996 @default.
- W4379471256 hasConceptScore W4379471256C2781244666 @default.
- W4379471256 hasConceptScore W4379471256C501734568 @default.
- W4379471256 hasConceptScore W4379471256C502942594 @default.
- W4379471256 hasConceptScore W4379471256C54355233 @default.
- W4379471256 hasConceptScore W4379471256C71924100 @default.
- W4379471256 hasConceptScore W4379471256C86803240 @default.
- W4379471256 hasLocation W43794712561 @default.
- W4379471256 hasLocation W43794712562 @default.
- W4379471256 hasLocation W43794712563 @default.
- W4379471256 hasOpenAccess W4379471256 @default.
- W4379471256 hasPrimaryLocation W43794712561 @default.
- W4379471256 hasRelatedWork W1972937411 @default.
- W4379471256 hasRelatedWork W2017744706 @default.
- W4379471256 hasRelatedWork W2027193821 @default.
- W4379471256 hasRelatedWork W2057043114 @default.
- W4379471256 hasRelatedWork W2119323520 @default.
- W4379471256 hasRelatedWork W2147450167 @default.
- W4379471256 hasRelatedWork W2419141784 @default.
- W4379471256 hasRelatedWork W2909185802 @default.
- W4379471256 hasRelatedWork W3092310959 @default.
- W4379471256 hasRelatedWork W3208775200 @default.
- W4379471256 hasVolume "18" @default.
- W4379471256 isParatext "false" @default.
- W4379471256 isRetracted "false" @default.
- W4379471256 workType "article" @default.