Pituitary adenoma predisposition caused by germline mutations in the AIP gene
Pituitary adenomas are common in the general population, and understanding their molecular basis is of great interest. Combining chip-based technologies with genealogy data, we identified germline mutations in the aryl hydrocarbon receptor interacting protein (AIP) gene in individuals with pituitary...
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Online Access: | https://hdl.handle.net/20.500.12627/28340 https://doi.org/10.1126/science.1126100 |
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ftistanbuluniv:oai:http://acikerisim.istanbul.edu.tr:20.500.12627/28340 2023-05-15T17:42:26+02:00 Pituitary adenoma predisposition caused by germline mutations in the AIP gene Makinen, Markus J. Aaltonen, Lauri A. De Menis, Ernesto Launonen, Virpi Karhu, Auli Vierimaa, Outi Georgitsi, Marianthi Lehtonen, Rainer Vahteristo, Pia Kokko, Antti Raitila, Anniina Tuppurainen, Karoliina Ebeling, Tapani M. L. Salmela, Pasi I. Paschke, Ralf Gundogdu, Sadi , , 178651 2006 https://hdl.handle.net/20.500.12627/28340 https://doi.org/10.1126/science.1126100 eng eng SCIENCE Vierimaa O., Georgitsi M., Lehtonen R., Vahteristo P., Kokko A., Raitila A., Tuppurainen K., Ebeling T. M. L. , Salmela P. I. , Paschke R., et al., "Pituitary adenoma predisposition caused by germline mutations in the AIP gene", SCIENCE, cilt.312, sa.5777, ss.1228-1230, 2006 0036-8075 vv_1032021 av_22b738d2-210d-4e4f-9a17-6bd7ff64681b http://hdl.handle.net/20.500.12627/28340 https://doi.org/10.1126/science.1126100 312 5777 1228 1230 Temel Bilimler (SCI) ÇOK DİSİPLİNLİ BİLİMLER Doğa Bilimleri Genel Temel Bilimler Makale 2006 ftistanbuluniv https://doi.org/20.500.12627/28340 https://doi.org/10.1126/science.1126100 2022-08-10T13:44:36Z Pituitary adenomas are common in the general population, and understanding their molecular basis is of great interest. Combining chip-based technologies with genealogy data, we identified germline mutations in the aryl hydrocarbon receptor interacting protein (AIP) gene in individuals with pituitary adenoma predisposition (PAP). AIP acts in cytoplasmic retention of the latent form of the aryl hydrocarbon receptor and also has other functions. In a population-based series from Northern Finland, two AIP mutations account for 16% of all patients diagnosed with pituitary adenomas secreting growth hormone and for 40% of the subset of patients who were diagnosed when they were younger than 35 years of age. Typically, PAP patients do not display a strong family history of pituitary adenoma; thus, AIP is an example of a low-penetrance tumor susceptibility gene. Article in Journal/Newspaper Northern Finland İstanbul Üniversitesi Açık Erişim Sistemi Science 312 5777 1228 1230 |
institution |
Open Polar |
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İstanbul Üniversitesi Açık Erişim Sistemi |
op_collection_id |
ftistanbuluniv |
language |
English |
topic |
Temel Bilimler (SCI) ÇOK DİSİPLİNLİ BİLİMLER Doğa Bilimleri Genel Temel Bilimler |
spellingShingle |
Temel Bilimler (SCI) ÇOK DİSİPLİNLİ BİLİMLER Doğa Bilimleri Genel Temel Bilimler Makinen, Markus J. Aaltonen, Lauri A. De Menis, Ernesto Launonen, Virpi Karhu, Auli Vierimaa, Outi Georgitsi, Marianthi Lehtonen, Rainer Vahteristo, Pia Kokko, Antti Raitila, Anniina Tuppurainen, Karoliina Ebeling, Tapani M. L. Salmela, Pasi I. Paschke, Ralf Gundogdu, Sadi Pituitary adenoma predisposition caused by germline mutations in the AIP gene |
topic_facet |
Temel Bilimler (SCI) ÇOK DİSİPLİNLİ BİLİMLER Doğa Bilimleri Genel Temel Bilimler |
description |
Pituitary adenomas are common in the general population, and understanding their molecular basis is of great interest. Combining chip-based technologies with genealogy data, we identified germline mutations in the aryl hydrocarbon receptor interacting protein (AIP) gene in individuals with pituitary adenoma predisposition (PAP). AIP acts in cytoplasmic retention of the latent form of the aryl hydrocarbon receptor and also has other functions. In a population-based series from Northern Finland, two AIP mutations account for 16% of all patients diagnosed with pituitary adenomas secreting growth hormone and for 40% of the subset of patients who were diagnosed when they were younger than 35 years of age. Typically, PAP patients do not display a strong family history of pituitary adenoma; thus, AIP is an example of a low-penetrance tumor susceptibility gene. |
author2 |
, , 178651 |
format |
Article in Journal/Newspaper |
author |
Makinen, Markus J. Aaltonen, Lauri A. De Menis, Ernesto Launonen, Virpi Karhu, Auli Vierimaa, Outi Georgitsi, Marianthi Lehtonen, Rainer Vahteristo, Pia Kokko, Antti Raitila, Anniina Tuppurainen, Karoliina Ebeling, Tapani M. L. Salmela, Pasi I. Paschke, Ralf Gundogdu, Sadi |
author_facet |
Makinen, Markus J. Aaltonen, Lauri A. De Menis, Ernesto Launonen, Virpi Karhu, Auli Vierimaa, Outi Georgitsi, Marianthi Lehtonen, Rainer Vahteristo, Pia Kokko, Antti Raitila, Anniina Tuppurainen, Karoliina Ebeling, Tapani M. L. Salmela, Pasi I. Paschke, Ralf Gundogdu, Sadi |
author_sort |
Makinen, Markus J. |
title |
Pituitary adenoma predisposition caused by germline mutations in the AIP gene |
title_short |
Pituitary adenoma predisposition caused by germline mutations in the AIP gene |
title_full |
Pituitary adenoma predisposition caused by germline mutations in the AIP gene |
title_fullStr |
Pituitary adenoma predisposition caused by germline mutations in the AIP gene |
title_full_unstemmed |
Pituitary adenoma predisposition caused by germline mutations in the AIP gene |
title_sort |
pituitary adenoma predisposition caused by germline mutations in the aip gene |
publishDate |
2006 |
url |
https://hdl.handle.net/20.500.12627/28340 https://doi.org/10.1126/science.1126100 |
genre |
Northern Finland |
genre_facet |
Northern Finland |
op_relation |
SCIENCE Vierimaa O., Georgitsi M., Lehtonen R., Vahteristo P., Kokko A., Raitila A., Tuppurainen K., Ebeling T. M. L. , Salmela P. I. , Paschke R., et al., "Pituitary adenoma predisposition caused by germline mutations in the AIP gene", SCIENCE, cilt.312, sa.5777, ss.1228-1230, 2006 0036-8075 vv_1032021 av_22b738d2-210d-4e4f-9a17-6bd7ff64681b http://hdl.handle.net/20.500.12627/28340 https://doi.org/10.1126/science.1126100 312 5777 1228 1230 |
op_doi |
https://doi.org/20.500.12627/28340 https://doi.org/10.1126/science.1126100 |
container_title |
Science |
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312 |
container_issue |
5777 |
container_start_page |
1228 |
op_container_end_page |
1230 |
_version_ |
1766144299587600384 |