PDE3A mutations cause autosomal dominant hypertension with brachydactyly
PDE3A mutations cause autosomal dominant hypertension with brachydactyly
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Author / Creator
Maass, Philipp G , Aydin, Atakan , Luft, Friedrich C , Schächterle, Carolin , Weise, Anja , Stricker, Sigmar , Lindschau, Carsten , Vaegler, Martin , Qadri, Fatimunnisa , Toka, Hakan R , Schulz, Herbert , Krawitz, Peter M , Parkhomchuk, Dmitri , Hecht, Jochen , Hollfinger, Irene , Wefeld-Neuenfeld, Yvette , Bartels-Klein, Eireen , Mühl, Astrid , Kann, Martin , Schuster, Herbert , Chitayat, David , Bialer, Martin G , Wienker, Thomas F , Ott, Jürg , Rittscher, Katharina , Liehr, Thomas , Jordan, Jens , Plessis, Ghislaine , Tank, Jens , Mai, Knut , Naraghi, Ramin , Hodge, Russell , Hopp, Maxwell , Hattenbach, Lars O , Busjahn, Andreas , Rauch, Anita , Vandeput, Fabrice , Gong, Maolian , Rüschendorf, Franz , Hübner, Norbert , Haller, Hermann , Mundlos, Stefan , Bilginturan, Nihat , Movsesian, Matthew A , Klussmann, Enno , Toka, Okan and Bähring, Sylvia
Publisher
New York: Nature Publishing Group US
Journal title
Language
English
Formats
Publication information
Publisher
New York: Nature Publishing Group US
Subjects
More information
Scope and Contents
Contents
Friedrich Luft and colleagues identify missense mutations in
PDE3A
in six unrelated families with an autosomal dominant syndrome marked by severe hypertension and brachydactyly. They further show that the mutations result in gain of enzymatic function, leading to increased vascular smooth muscle cell proliferation and vessel wall hyperplasia....
Alternative Titles
Full title
PDE3A mutations cause autosomal dominant hypertension with brachydactyly
Authors, Artists and Contributors
Author / Creator
Aydin, Atakan
Luft, Friedrich C
Schächterle, Carolin
Weise, Anja
Stricker, Sigmar
Lindschau, Carsten
Vaegler, Martin
Qadri, Fatimunnisa
Toka, Hakan R
Schulz, Herbert
Krawitz, Peter M
Parkhomchuk, Dmitri
Hecht, Jochen
Hollfinger, Irene
Wefeld-Neuenfeld, Yvette
Bartels-Klein, Eireen
Mühl, Astrid
Kann, Martin
Schuster, Herbert
Chitayat, David
Bialer, Martin G
Wienker, Thomas F
Ott, Jürg
Rittscher, Katharina
Liehr, Thomas
Jordan, Jens
Plessis, Ghislaine
Tank, Jens
Mai, Knut
Naraghi, Ramin
Hodge, Russell
Hopp, Maxwell
Hattenbach, Lars O
Busjahn, Andreas
Rauch, Anita
Vandeput, Fabrice
Gong, Maolian
Rüschendorf, Franz
Hübner, Norbert
Haller, Hermann
Mundlos, Stefan
Bilginturan, Nihat
Movsesian, Matthew A
Klussmann, Enno
Toka, Okan
Bähring, Sylvia
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_proquest_journals_1686394351
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_1686394351
Other Identifiers
ISSN
1061-4036
E-ISSN
1546-1718
DOI
10.1038/ng.3302
