Matches in SemOpenAlex for { <https://semopenalex.org/work/W2114029663> ?p ?o ?g. }
Showing items 1 to 96 of
96
with 100 items per page.
- W2114029663 abstract "Multiple endocrine neoplasia type 1 (MEN 1) is associated with neoplasia and hyperfunction of the parathyroid and pituitary glands, pancreatic islet cells, and neuroendocrine cells of the gut. The inheritance pattern is autosomal dominant, and the underlying genetic defect is situated at chromosome 11q13. The MEN 1 gene behaves as a defective copy of a normally constitutive tumor suppressor gene. Development of the MEN 1 phenotype, however, is a multistep and multifactorial process. The Tasman 1 genealogy is the largest MEN 1 pedigree detected to date. Thus far, 90 related members with MEN 1 have been screened for evidence of prolactinoma. Prolactinomas were found in 18 patients (20%). Prolactinomas were not evenly distributed in the genealogy; in 2 branches of the overall genealogy prolactinomas were present in 50% or more of MEN 1-affected members. The familial distribution of prolactinomas in these branches was consistent with an autosomal dominant mode of inheritance. In the remainder of the pedigree, prolactinomas were uncommon and did not display this inheritance pattern. This pedigree represents one of the largest published MEN 1 genealogies in which the risk of developing prolactinoma follows an autosomal dominant pattern of transmission. It is the first to demonstrate an inheritance pattern for prolactinomas acting in addition to, yet distinct from, the inheritance of the underlying MEN 1 gene defect. These findings are consistent with the existence of an undefined second genetic defect involved in the pathogenesis of prolactinoma in MEN 1." @default.
- W2114029663 created "2016-06-24" @default.
- W2114029663 creator A5002026660 @default.
- W2114029663 creator A5003743304 @default.
- W2114029663 creator A5006605755 @default.
- W2114029663 creator A5064642820 @default.
- W2114029663 creator A5066463202 @default.
- W2114029663 date "1996-05-01" @default.
- W2114029663 modified "2023-09-25" @default.
- W2114029663 title "Prolactinomas in a large kindred with multiple endocrine neoplasia type 1: clinical features and inheritance pattern." @default.
- W2114029663 cites W1503554112 @default.
- W2114029663 cites W1535587358 @default.
- W2114029663 cites W1969793363 @default.
- W2114029663 cites W1976870937 @default.
- W2114029663 cites W1979524266 @default.
- W2114029663 cites W1989755336 @default.
- W2114029663 cites W1994018131 @default.
- W2114029663 cites W1995807783 @default.
- W2114029663 cites W1997257276 @default.
- W2114029663 cites W2000012471 @default.
- W2114029663 cites W2003520548 @default.
- W2114029663 cites W2011077280 @default.
- W2114029663 cites W2029204437 @default.
- W2114029663 cites W2034419771 @default.
- W2114029663 cites W2035730961 @default.
- W2114029663 cites W2039094079 @default.
- W2114029663 cites W2051176657 @default.
- W2114029663 cites W2061106767 @default.
- W2114029663 cites W2072158944 @default.
- W2114029663 cites W2075884689 @default.
- W2114029663 cites W2077858999 @default.
- W2114029663 cites W2082382521 @default.
- W2114029663 cites W2084676485 @default.
- W2114029663 cites W2126317049 @default.
- W2114029663 cites W2139998567 @default.
- W2114029663 cites W2157199565 @default.
- W2114029663 cites W2336883772 @default.
- W2114029663 cites W2091375777 @default.
- W2114029663 cites W2116292303 @default.
- W2114029663 doi "https://doi.org/10.1210/jcem.81.5.8626844" @default.
- W2114029663 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/8626844" @default.
- W2114029663 hasPublicationYear "1996" @default.
- W2114029663 type Work @default.
- W2114029663 sameAs 2114029663 @default.
- W2114029663 citedByCount "25" @default.
- W2114029663 countsByYear W21140296632012 @default.
- W2114029663 countsByYear W21140296632014 @default.
- W2114029663 countsByYear W21140296632019 @default.
- W2114029663 countsByYear W21140296632023 @default.
- W2114029663 crossrefType "journal-article" @default.
- W2114029663 hasAuthorship W2114029663A5002026660 @default.
- W2114029663 hasAuthorship W2114029663A5003743304 @default.
- W2114029663 hasAuthorship W2114029663A5006605755 @default.
- W2114029663 hasAuthorship W2114029663A5064642820 @default.
- W2114029663 hasAuthorship W2114029663A5066463202 @default.
- W2114029663 hasBestOaLocation W21140296631 @default.
- W2114029663 hasConcept C104317684 @default.
- W2114029663 hasConcept C126322002 @default.
- W2114029663 hasConcept C134018914 @default.
- W2114029663 hasConcept C2778918492 @default.
- W2114029663 hasConcept C2779064019 @default.
- W2114029663 hasConcept C2780103800 @default.
- W2114029663 hasConcept C2780902518 @default.
- W2114029663 hasConcept C54355233 @default.
- W2114029663 hasConcept C71315377 @default.
- W2114029663 hasConcept C71924100 @default.
- W2114029663 hasConcept C86803240 @default.
- W2114029663 hasConceptScore W2114029663C104317684 @default.
- W2114029663 hasConceptScore W2114029663C126322002 @default.
- W2114029663 hasConceptScore W2114029663C134018914 @default.
- W2114029663 hasConceptScore W2114029663C2778918492 @default.
- W2114029663 hasConceptScore W2114029663C2779064019 @default.
- W2114029663 hasConceptScore W2114029663C2780103800 @default.
- W2114029663 hasConceptScore W2114029663C2780902518 @default.
- W2114029663 hasConceptScore W2114029663C54355233 @default.
- W2114029663 hasConceptScore W2114029663C71315377 @default.
- W2114029663 hasConceptScore W2114029663C71924100 @default.
- W2114029663 hasConceptScore W2114029663C86803240 @default.
- W2114029663 hasLocation W21140296631 @default.
- W2114029663 hasLocation W21140296632 @default.
- W2114029663 hasOpenAccess W2114029663 @default.
- W2114029663 hasPrimaryLocation W21140296631 @default.
- W2114029663 hasRelatedWork W1983832300 @default.
- W2114029663 hasRelatedWork W1997673856 @default.
- W2114029663 hasRelatedWork W2007350909 @default.
- W2114029663 hasRelatedWork W2013390902 @default.
- W2114029663 hasRelatedWork W2046444376 @default.
- W2114029663 hasRelatedWork W2050420287 @default.
- W2114029663 hasRelatedWork W2073158788 @default.
- W2114029663 hasRelatedWork W2075271119 @default.
- W2114029663 hasRelatedWork W2085159944 @default.
- W2114029663 hasRelatedWork W2107732607 @default.
- W2114029663 isParatext "false" @default.
- W2114029663 isRetracted "false" @default.
- W2114029663 magId "2114029663" @default.
- W2114029663 workType "article" @default.