Matches in SemOpenAlex for { <https://semopenalex.org/work/W4200625779> ?p ?o ?g. }
Showing items 1 to 98 of
98
with 100 items per page.
- W4200625779 endingPage "1238" @default.
- W4200625779 startingPage "1233" @default.
- W4200625779 abstract "Penttinen type of premature aging syndrome is an autosomal-dominant disorder that can be caused by the c.1994T>A pVal665Ala pathogenic variant in platelet-derived growth factor receptor-B (PDGFRB). Imatinib, a receptor tyrosine kinase (RTK) inhibitor, has been used in Penttinen syndrome (PS) patients with good results. A 21-year-old male presented shortly after birth with a prematurely aged appearance with distinctive facial features and cutaneous atrophy with hypertrophic scar-like lesions. Generalized brachydactyly with acro-osteolysis was observed. Flexion contractures limited his daily activities. Cognitive impairment was not present. Genetic testing found a heterozygous variant c.1994T>A pVal665Ala in exon 14 of PDGFRB. A diagnosis of PS was made and imatinib treatment was started with partial response. After lack of further improvement, in vitro molecular studies with imatinib and dasatinib showed that the Val665Ala variant had greater sensitivity to dasatinib than imatinib. This was seen examining levels of P-PDGFRB directly and on downstream ligands P-AKT and P-STAT. Improved clinical response was observed after treatment with dasatinib. We report a new case of PS with clinical and molecular response to dasatinib after incomplete response to imatinib. Our work provides further molecular and clinical evidence of RTK inhibitors' efficacy in this rare disorder." @default.
- W4200625779 created "2021-12-31" @default.
- W4200625779 creator A5000903499 @default.
- W4200625779 creator A5016397232 @default.
- W4200625779 creator A5019936134 @default.
- W4200625779 creator A5020138183 @default.
- W4200625779 creator A5028570609 @default.
- W4200625779 creator A5050789078 @default.
- W4200625779 creator A5082442284 @default.
- W4200625779 date "2021-12-11" @default.
- W4200625779 modified "2023-10-17" @default.
- W4200625779 title "Clinical and molecular response to dasatinib in an adult patient with Penttinen syndrome" @default.
- W4200625779 cites W1732611826 @default.
- W4200625779 cites W2004071570 @default.
- W4200625779 cites W2006626328 @default.
- W4200625779 cites W2053144072 @default.
- W4200625779 cites W2140262243 @default.
- W4200625779 cites W2238015399 @default.
- W4200625779 cites W2586761725 @default.
- W4200625779 cites W2592021759 @default.
- W4200625779 cites W2593324531 @default.
- W4200625779 cites W2606313435 @default.
- W4200625779 cites W2676697855 @default.
- W4200625779 cites W2738595402 @default.
- W4200625779 cites W2772587281 @default.
- W4200625779 cites W2810435177 @default.
- W4200625779 cites W2905117336 @default.
- W4200625779 cites W2936787298 @default.
- W4200625779 cites W2941884036 @default.
- W4200625779 cites W3033273592 @default.
- W4200625779 cites W3121704109 @default.
- W4200625779 doi "https://doi.org/10.1002/ajmg.a.62603" @default.
- W4200625779 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/34894066" @default.
- W4200625779 hasPublicationYear "2021" @default.
- W4200625779 type Work @default.
- W4200625779 citedByCount "1" @default.
- W4200625779 countsByYear W42006257792022 @default.
- W4200625779 crossrefType "journal-article" @default.
- W4200625779 hasAuthorship W4200625779A5000903499 @default.
- W4200625779 hasAuthorship W4200625779A5016397232 @default.
- W4200625779 hasAuthorship W4200625779A5019936134 @default.
- W4200625779 hasAuthorship W4200625779A5020138183 @default.
- W4200625779 hasAuthorship W4200625779A5028570609 @default.
- W4200625779 hasAuthorship W4200625779A5050789078 @default.
- W4200625779 hasAuthorship W4200625779A5082442284 @default.
- W4200625779 hasConcept C104317684 @default.
- W4200625779 hasConcept C121608353 @default.
- W4200625779 hasConcept C126322002 @default.
- W4200625779 hasConcept C143998085 @default.
- W4200625779 hasConcept C170493617 @default.
- W4200625779 hasConcept C2777583451 @default.
- W4200625779 hasConcept C2778729363 @default.
- W4200625779 hasConcept C2778820342 @default.
- W4200625779 hasConcept C2779536868 @default.
- W4200625779 hasConcept C3019892230 @default.
- W4200625779 hasConcept C42362537 @default.
- W4200625779 hasConcept C502942594 @default.
- W4200625779 hasConcept C54355233 @default.
- W4200625779 hasConcept C71924100 @default.
- W4200625779 hasConcept C78221974 @default.
- W4200625779 hasConcept C86803240 @default.
- W4200625779 hasConceptScore W4200625779C104317684 @default.
- W4200625779 hasConceptScore W4200625779C121608353 @default.
- W4200625779 hasConceptScore W4200625779C126322002 @default.
- W4200625779 hasConceptScore W4200625779C143998085 @default.
- W4200625779 hasConceptScore W4200625779C170493617 @default.
- W4200625779 hasConceptScore W4200625779C2777583451 @default.
- W4200625779 hasConceptScore W4200625779C2778729363 @default.
- W4200625779 hasConceptScore W4200625779C2778820342 @default.
- W4200625779 hasConceptScore W4200625779C2779536868 @default.
- W4200625779 hasConceptScore W4200625779C3019892230 @default.
- W4200625779 hasConceptScore W4200625779C42362537 @default.
- W4200625779 hasConceptScore W4200625779C502942594 @default.
- W4200625779 hasConceptScore W4200625779C54355233 @default.
- W4200625779 hasConceptScore W4200625779C71924100 @default.
- W4200625779 hasConceptScore W4200625779C78221974 @default.
- W4200625779 hasConceptScore W4200625779C86803240 @default.
- W4200625779 hasIssue "4" @default.
- W4200625779 hasLocation W42006257791 @default.
- W4200625779 hasLocation W42006257792 @default.
- W4200625779 hasOpenAccess W4200625779 @default.
- W4200625779 hasPrimaryLocation W42006257791 @default.
- W4200625779 hasRelatedWork W1560427955 @default.
- W4200625779 hasRelatedWork W1969154832 @default.
- W4200625779 hasRelatedWork W1977725524 @default.
- W4200625779 hasRelatedWork W200163820 @default.
- W4200625779 hasRelatedWork W2112405804 @default.
- W4200625779 hasRelatedWork W2333888998 @default.
- W4200625779 hasRelatedWork W2789537253 @default.
- W4200625779 hasRelatedWork W2979743675 @default.
- W4200625779 hasRelatedWork W3116441850 @default.
- W4200625779 hasRelatedWork W4230849756 @default.
- W4200625779 hasVolume "188" @default.
- W4200625779 isParatext "false" @default.
- W4200625779 isRetracted "false" @default.
- W4200625779 workType "article" @default.