FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2108789831> ?p ?o ?g. }

• W2108789831 abstract "Pulmonary arterial hypertension (PAH) is a rare disease that can have a familial component. It has been shown that more than 50% of cases of familial PAH are associated with mutations in the gene encoding bone morphogenetic protein receptor 2 (BMPR2), which acts as a receptor for members of the transforming growth factor beta superfamily. Some studies in patients with idiopathic PAH have also shown varying percentages of mutations in this gene. The aim of this study was to determine the frequency of these mutations in a group of patients with idiopathic PAH.The study population included patients with idiopathic PAH who were seen during 2006 in our unit specialized in this entity. Patients were excluded if they had relatives who had been diagnosed with PAH or who had symptoms that led to suspicion of the disease. Diagnosis was obtained according to the protocol used in our unit. A hemodynamic study was carried out in all cases and patients were included if they had a mean pulmonary arterial pressure of greater than 25 mm Hg. DNA was extracted from peripheral leukocytes and amplified by polymerase chain reaction. Seventeen primer pairs were used for the 13 exons that make up the gene. Using the single strand conformational polymorphism (SSCP) technique we detected anomalous DNA fragments for subsequent sequencing.The study included 8 patients (4 women). In 5 patients, no abnormalities were observed, whereas in the remaining 3, anomalous electrophoresis patterns were obtained in the SSCP and sequencing revealed mutations. In 1 case, 2 different electrophoresis patterns were observed by SSCP, but it was only possible to sequence 1 of them due to the low concentration of DNA obtained.The presence of mutations in the gene encoding BMPR2 is not infrequent in patients with idiopathic PAH, suggesting that this family of growth factors may be important in the pathogenesis of the disease and could have therapeutic implications." @default.
• W2108789831 created "2016-06-24" @default.
• W2108789831 creator A5008268598 @default.
• W2108789831 creator A5014473626 @default.
• W2108789831 creator A5041470158 @default.
• W2108789831 creator A5075162505 @default.
• W2108789831 date "2008-01-01" @default.
• W2108789831 modified "2023-09-26" @default.
• W2108789831 title "Mutations in the Gene Encoding Bone Morphogenetic Protein Receptor 2 in Patients With Idiopathic Pulmonary Arterial Hypertension" @default.
• W2108789831 cites W1575497543 @default.
• W2108789831 cites W1606441445 @default.
• W2108789831 cites W177395109 @default.
• W2108789831 cites W1966444660 @default.
• W2108789831 cites W1968143686 @default.
• W2108789831 cites W1972469636 @default.
• W2108789831 cites W1981031832 @default.
• W2108789831 cites W1981443796 @default.
• W2108789831 cites W1988702633 @default.
• W2108789831 cites W1998123371 @default.
• W2108789831 cites W2020811604 @default.
• W2108789831 cites W2025947830 @default.
• W2108789831 cites W2030470655 @default.
• W2108789831 cites W2046383505 @default.
• W2108789831 cites W2050384089 @default.
• W2108789831 cites W2083090747 @default.
• W2108789831 cites W2088616514 @default.
• W2108789831 cites W2096393477 @default.
• W2108789831 cites W2099297386 @default.
• W2108789831 cites W2104874723 @default.
• W2108789831 cites W2119521027 @default.
• W2108789831 cites W2124656992 @default.
• W2108789831 cites W2125544408 @default.
• W2108789831 cites W2125650759 @default.
• W2108789831 cites W2141987653 @default.
• W2108789831 cites W2146234408 @default.
• W2108789831 cites W2152456558 @default.
• W2108789831 cites W2152501741 @default.
• W2108789831 cites W2154573929 @default.
• W2108789831 cites W2162125686 @default.
• W2108789831 cites W2169174986 @default.
• W2108789831 cites W2341035105 @default.
• W2108789831 doi "https://doi.org/10.1016/s1579-2129(08)60006-3" @default.
• W2108789831 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/18221724" @default.
• W2108789831 hasPublicationYear "2008" @default.
• W2108789831 type Work @default.
• W2108789831 sameAs 2108789831 @default.
• W2108789831 citedByCount "6" @default.
• W2108789831 countsByYear W21087898312015 @default.
• W2108789831 crossrefType "journal-article" @default.
• W2108789831 hasAuthorship W2108789831A5008268598 @default.
• W2108789831 hasAuthorship W2108789831A5014473626 @default.
• W2108789831 hasAuthorship W2108789831A5041470158 @default.
• W2108789831 hasAuthorship W2108789831A5075162505 @default.
• W2108789831 hasConcept C104317684 @default.
• W2108789831 hasConcept C126322002 @default.
• W2108789831 hasConcept C129219603 @default.
• W2108789831 hasConcept C142724271 @default.
• W2108789831 hasConcept C153911025 @default.
• W2108789831 hasConcept C178790620 @default.
• W2108789831 hasConcept C185592680 @default.
• W2108789831 hasConcept C2777563447 @default.
• W2108789831 hasConcept C2780930700 @default.
• W2108789831 hasConcept C2781228645 @default.
• W2108789831 hasConcept C2908647359 @default.
• W2108789831 hasConcept C31507581 @default.
• W2108789831 hasConcept C36823959 @default.
• W2108789831 hasConcept C49105822 @default.
• W2108789831 hasConcept C501734568 @default.
• W2108789831 hasConcept C54355233 @default.
• W2108789831 hasConcept C71924100 @default.
• W2108789831 hasConcept C73834784 @default.
• W2108789831 hasConcept C86803240 @default.
• W2108789831 hasConcept C90924648 @default.
• W2108789831 hasConcept C99454951 @default.
• W2108789831 hasConceptScore W2108789831C104317684 @default.
• W2108789831 hasConceptScore W2108789831C126322002 @default.
• W2108789831 hasConceptScore W2108789831C129219603 @default.
• W2108789831 hasConceptScore W2108789831C142724271 @default.
• W2108789831 hasConceptScore W2108789831C153911025 @default.
• W2108789831 hasConceptScore W2108789831C178790620 @default.
• W2108789831 hasConceptScore W2108789831C185592680 @default.
• W2108789831 hasConceptScore W2108789831C2777563447 @default.
• W2108789831 hasConceptScore W2108789831C2780930700 @default.
• W2108789831 hasConceptScore W2108789831C2781228645 @default.
• W2108789831 hasConceptScore W2108789831C2908647359 @default.
• W2108789831 hasConceptScore W2108789831C31507581 @default.
• W2108789831 hasConceptScore W2108789831C36823959 @default.
• W2108789831 hasConceptScore W2108789831C49105822 @default.
• W2108789831 hasConceptScore W2108789831C501734568 @default.
• W2108789831 hasConceptScore W2108789831C54355233 @default.
• W2108789831 hasConceptScore W2108789831C71924100 @default.
• W2108789831 hasConceptScore W2108789831C73834784 @default.
• W2108789831 hasConceptScore W2108789831C86803240 @default.
• W2108789831 hasConceptScore W2108789831C90924648 @default.
• W2108789831 hasConceptScore W2108789831C99454951 @default.
• W2108789831 hasLocation W21087898311 @default.
• W2108789831 hasLocation W21087898312 @default.
• W2108789831 hasOpenAccess W2108789831 @default.
• W2108789831 hasPrimaryLocation W21087898311 @default.
• W2108789831 hasRelatedWork W1606441445 @default.

• next