Liver Phenotypes of European Adults Heterozygous or Homozygous for Pi∗Z Variant of AAT (Pi∗MZ vs Pi∗ZZ genotype) and Noncarriers
Autor(a) principal: | |
---|---|
Data de Publicação: | 2020 |
Outros Autores: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
Texto Completo: | http://hdl.handle.net/10400.26/34284 |
Resumo: | Homozygosity for the Pi∗Z variant of the gene that encodes the alpha-1 antitrypsin peptide (AAT), called the Pi∗ZZ genotype, causes a liver and lung disease called alpha-1 antitrypsin deficiency. Heterozygosity (the Pi∗MZ genotype) is a risk factor for cirrhosis in individuals with liver disease. Up to 4% of Europeans have the Pi∗MZ genotype; we compared features of adults with and without Pi∗MZ genotype among persons without preexisting liver disease. |
id |
RCAP_9c8b5feab1bf423a716802c31472eed0 |
---|---|
oai_identifier_str |
oai:comum.rcaap.pt:10400.26/34284 |
network_acronym_str |
RCAP |
network_name_str |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
repository_id_str |
7160 |
spelling |
Liver Phenotypes of European Adults Heterozygous or Homozygous for Pi∗Z Variant of AAT (Pi∗MZ vs Pi∗ZZ genotype) and NoncarriersHomozygosity for the Pi∗Z variant of the gene that encodes the alpha-1 antitrypsin peptide (AAT), called the Pi∗ZZ genotype, causes a liver and lung disease called alpha-1 antitrypsin deficiency. Heterozygosity (the Pi∗MZ genotype) is a risk factor for cirrhosis in individuals with liver disease. Up to 4% of Europeans have the Pi∗MZ genotype; we compared features of adults with and without Pi∗MZ genotype among persons without preexisting liver disease.Repositório ComumSchneider, Carolin V.Hamesch, KarimGross, AnnikaMandorfer, MattiasMoeller, Linda S.Pereira, VitorPons, MonicaKuca, PawelReichert, Matthias C.Benini, FedericaBurbaum, BarbaraVoss, JessicaGutberlet, MarlaWoditsch, VivienLindhauer, CeciliaFromme, MalinKümpers, JuliaBewersdorf, LisaSchaefer, BenediktEslam, MohammedBals, RobertJanciauskiene, SabinaCarvão, JoanaNeureiter, DanielZhou, BiaohuanWöran, KatharinaBantel, HeikeGeier, AndreasDirrichs, TimmStickel, FelixTeumer, AlexanderVerbeek, JefNevens, FrederikGovaere, OlivierKrawczyk, MarcinRoskams, TaniaHaybaeck, JohannesLurje, GeorgChorostowska-Wynimko, JoannaGenesca, JoanReiberger, ThomasLammert, FrankKrag, AleksanderGeorge, JacobAnstee, Quentin M.Trauner, MichaelDatz, ChristianGaisa, Nadine T.Denk, HelmutTrautwein, ChristianAigner, ElmarStrnad, Pavel2020-12-07T18:09:50Z20202020-01-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10400.26/34284engLiver Phenotypes of European Adults Heterozygous or Homozygous for Pi* Z Variant of AAT (Pi* MZ vs Pi* ZZ genotype) and Non-carriers0016-508610.1053/j.gastro.2020.04.058info:eu-repo/semantics/openAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2023-11-10T02:17:12Zoai:comum.rcaap.pt:10400.26/34284Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T22:34:29.955767Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse |
dc.title.none.fl_str_mv |
Liver Phenotypes of European Adults Heterozygous or Homozygous for Pi∗Z Variant of AAT (Pi∗MZ vs Pi∗ZZ genotype) and Noncarriers |
title |
Liver Phenotypes of European Adults Heterozygous or Homozygous for Pi∗Z Variant of AAT (Pi∗MZ vs Pi∗ZZ genotype) and Noncarriers |
spellingShingle |
Liver Phenotypes of European Adults Heterozygous or Homozygous for Pi∗Z Variant of AAT (Pi∗MZ vs Pi∗ZZ genotype) and Noncarriers Schneider, Carolin V. |
title_short |
Liver Phenotypes of European Adults Heterozygous or Homozygous for Pi∗Z Variant of AAT (Pi∗MZ vs Pi∗ZZ genotype) and Noncarriers |
title_full |
Liver Phenotypes of European Adults Heterozygous or Homozygous for Pi∗Z Variant of AAT (Pi∗MZ vs Pi∗ZZ genotype) and Noncarriers |
title_fullStr |
Liver Phenotypes of European Adults Heterozygous or Homozygous for Pi∗Z Variant of AAT (Pi∗MZ vs Pi∗ZZ genotype) and Noncarriers |
title_full_unstemmed |
Liver Phenotypes of European Adults Heterozygous or Homozygous for Pi∗Z Variant of AAT (Pi∗MZ vs Pi∗ZZ genotype) and Noncarriers |
title_sort |
Liver Phenotypes of European Adults Heterozygous or Homozygous for Pi∗Z Variant of AAT (Pi∗MZ vs Pi∗ZZ genotype) and Noncarriers |
author |
Schneider, Carolin V. |
author_facet |
Schneider, Carolin V. Hamesch, Karim Gross, Annika Mandorfer, Mattias Moeller, Linda S. Pereira, Vitor Pons, Monica Kuca, Pawel Reichert, Matthias C. Benini, Federica Burbaum, Barbara Voss, Jessica Gutberlet, Marla Woditsch, Vivien Lindhauer, Cecilia Fromme, Malin Kümpers, Julia Bewersdorf, Lisa Schaefer, Benedikt Eslam, Mohammed Bals, Robert Janciauskiene, Sabina Carvão, Joana Neureiter, Daniel Zhou, Biaohuan Wöran, Katharina Bantel, Heike Geier, Andreas Dirrichs, Timm Stickel, Felix Teumer, Alexander Verbeek, Jef Nevens, Frederik Govaere, Olivier Krawczyk, Marcin Roskams, Tania Haybaeck, Johannes Lurje, Georg Chorostowska-Wynimko, Joanna Genesca, Joan Reiberger, Thomas Lammert, Frank Krag, Aleksander George, Jacob Anstee, Quentin M. Trauner, Michael Datz, Christian Gaisa, Nadine T. Denk, Helmut Trautwein, Christian Aigner, Elmar Strnad, Pavel |
author_role |
author |
author2 |
Hamesch, Karim Gross, Annika Mandorfer, Mattias Moeller, Linda S. Pereira, Vitor Pons, Monica Kuca, Pawel Reichert, Matthias C. Benini, Federica Burbaum, Barbara Voss, Jessica Gutberlet, Marla Woditsch, Vivien Lindhauer, Cecilia Fromme, Malin Kümpers, Julia Bewersdorf, Lisa Schaefer, Benedikt Eslam, Mohammed Bals, Robert Janciauskiene, Sabina Carvão, Joana Neureiter, Daniel Zhou, Biaohuan Wöran, Katharina Bantel, Heike Geier, Andreas Dirrichs, Timm Stickel, Felix Teumer, Alexander Verbeek, Jef Nevens, Frederik Govaere, Olivier Krawczyk, Marcin Roskams, Tania Haybaeck, Johannes Lurje, Georg Chorostowska-Wynimko, Joanna Genesca, Joan Reiberger, Thomas Lammert, Frank Krag, Aleksander George, Jacob Anstee, Quentin M. Trauner, Michael Datz, Christian Gaisa, Nadine T. Denk, Helmut Trautwein, Christian Aigner, Elmar Strnad, Pavel |
author2_role |
author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author |
dc.contributor.none.fl_str_mv |
Repositório Comum |
dc.contributor.author.fl_str_mv |
Schneider, Carolin V. Hamesch, Karim Gross, Annika Mandorfer, Mattias Moeller, Linda S. Pereira, Vitor Pons, Monica Kuca, Pawel Reichert, Matthias C. Benini, Federica Burbaum, Barbara Voss, Jessica Gutberlet, Marla Woditsch, Vivien Lindhauer, Cecilia Fromme, Malin Kümpers, Julia Bewersdorf, Lisa Schaefer, Benedikt Eslam, Mohammed Bals, Robert Janciauskiene, Sabina Carvão, Joana Neureiter, Daniel Zhou, Biaohuan Wöran, Katharina Bantel, Heike Geier, Andreas Dirrichs, Timm Stickel, Felix Teumer, Alexander Verbeek, Jef Nevens, Frederik Govaere, Olivier Krawczyk, Marcin Roskams, Tania Haybaeck, Johannes Lurje, Georg Chorostowska-Wynimko, Joanna Genesca, Joan Reiberger, Thomas Lammert, Frank Krag, Aleksander George, Jacob Anstee, Quentin M. Trauner, Michael Datz, Christian Gaisa, Nadine T. Denk, Helmut Trautwein, Christian Aigner, Elmar Strnad, Pavel |
description |
Homozygosity for the Pi∗Z variant of the gene that encodes the alpha-1 antitrypsin peptide (AAT), called the Pi∗ZZ genotype, causes a liver and lung disease called alpha-1 antitrypsin deficiency. Heterozygosity (the Pi∗MZ genotype) is a risk factor for cirrhosis in individuals with liver disease. Up to 4% of Europeans have the Pi∗MZ genotype; we compared features of adults with and without Pi∗MZ genotype among persons without preexisting liver disease. |
publishDate |
2020 |
dc.date.none.fl_str_mv |
2020-12-07T18:09:50Z 2020 2020-01-01T00:00:00Z |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://hdl.handle.net/10400.26/34284 |
url |
http://hdl.handle.net/10400.26/34284 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
Liver Phenotypes of European Adults Heterozygous or Homozygous for Pi* Z Variant of AAT (Pi* MZ vs Pi* ZZ genotype) and Non-carriers 0016-5086 10.1053/j.gastro.2020.04.058 |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
application/pdf |
dc.source.none.fl_str_mv |
reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação instacron:RCAAP |
instname_str |
Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
instacron_str |
RCAAP |
institution |
RCAAP |
reponame_str |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
collection |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
repository.name.fl_str_mv |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
repository.mail.fl_str_mv |
|
_version_ |
1799134907085094912 |