Two missense mutations in KCNQ1 cause pituitary hormone deficiency and maternally inherited gingival fibromatosis

Growth retardation is most commonly caused by genetic defects in the growth hormone pathway. Here, in families with growth retardation and gingival fibromatosis, the authors identify mutations in the potassium channel gene KCNQ1 that cause electrophysiological aberrations and altered ACTH secretion...

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Autores principales:	Johanna Tommiska, Johanna Känsäkoski, Lasse Skibsbye, Kirsi Vaaralahti, Xiaonan Liu, Emily J. Lodge, Chuyi Tang, Lei Yuan, Rainer Fagerholm, Jørgen K. Kanters, Päivi Lahermo, Mari Kaunisto, Riikka Keski-Filppula, Sanna Vuoristo, Kristiina Pulli, Tapani Ebeling, Leena Valanne, Eeva-Marja Sankila, Sirpa Kivirikko, Mitja Lääperi, Filippo Casoni, Paolo Giacobini, Franziska Phan-Hug, Tal Buki, Manuel Tena-Sempere, Nelly Pitteloud, Riitta Veijola, Marita Lipsanen-Nyman, Kari Kaunisto, Patrice Mollard, Cynthia L. Andoniadou, Joel A. Hirsch, Markku Varjosalo, Thomas Jespersen, Taneli Raivio
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2017
Materias:	Science Q
Acceso en línea:	https://doaj.org/article/b5b12ca766544223adfa800c677fab94
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spelling	oai:doaj.org-article:b5b12ca766544223adfa800c677fab942021-12-02T15:37:06ZTwo missense mutations in KCNQ1 cause pituitary hormone deficiency and maternally inherited gingival fibromatosis10.1038/s41467-017-01429-z2041-1723https://doaj.org/article/b5b12ca766544223adfa800c677fab942017-11-01T00:00:00Zhttps://doi.org/10.1038/s41467-017-01429-zhttps://doaj.org/toc/2041-1723Growth retardation is most commonly caused by genetic defects in the growth hormone pathway. Here, in families with growth retardation and gingival fibromatosis, the authors identify mutations in the potassium channel gene KCNQ1 that cause electrophysiological aberrations and altered ACTH secretion in vitro.Johanna TommiskaJohanna KänsäkoskiLasse SkibsbyeKirsi VaaralahtiXiaonan LiuEmily J. LodgeChuyi TangLei YuanRainer FagerholmJørgen K. KantersPäivi LahermoMari KaunistoRiikka Keski-FilppulaSanna VuoristoKristiina PulliTapani EbelingLeena ValanneEeva-Marja SankilaSirpa KivirikkoMitja LääperiFilippo CasoniPaolo GiacobiniFranziska Phan-HugTal BukiManuel Tena-SempereNelly PitteloudRiitta VeijolaMarita Lipsanen-NymanKari KaunistoPatrice MollardCynthia L. AndoniadouJoel A. HirschMarkku VarjosaloThomas JespersenTaneli RaivioNature PortfolioarticleScienceQENNature Communications, Vol 8, Iss 1, Pp 1-11 (2017)
institution	DOAJ
collection	DOAJ
language	EN
topic	Science Q
spellingShingle	Science Q Johanna Tommiska Johanna Känsäkoski Lasse Skibsbye Kirsi Vaaralahti Xiaonan Liu Emily J. Lodge Chuyi Tang Lei Yuan Rainer Fagerholm Jørgen K. Kanters Päivi Lahermo Mari Kaunisto Riikka Keski-Filppula Sanna Vuoristo Kristiina Pulli Tapani Ebeling Leena Valanne Eeva-Marja Sankila Sirpa Kivirikko Mitja Lääperi Filippo Casoni Paolo Giacobini Franziska Phan-Hug Tal Buki Manuel Tena-Sempere Nelly Pitteloud Riitta Veijola Marita Lipsanen-Nyman Kari Kaunisto Patrice Mollard Cynthia L. Andoniadou Joel A. Hirsch Markku Varjosalo Thomas Jespersen Taneli Raivio Two missense mutations in KCNQ1 cause pituitary hormone deficiency and maternally inherited gingival fibromatosis
description	Growth retardation is most commonly caused by genetic defects in the growth hormone pathway. Here, in families with growth retardation and gingival fibromatosis, the authors identify mutations in the potassium channel gene KCNQ1 that cause electrophysiological aberrations and altered ACTH secretion in vitro.
format	article
author	Johanna Tommiska Johanna Känsäkoski Lasse Skibsbye Kirsi Vaaralahti Xiaonan Liu Emily J. Lodge Chuyi Tang Lei Yuan Rainer Fagerholm Jørgen K. Kanters Päivi Lahermo Mari Kaunisto Riikka Keski-Filppula Sanna Vuoristo Kristiina Pulli Tapani Ebeling Leena Valanne Eeva-Marja Sankila Sirpa Kivirikko Mitja Lääperi Filippo Casoni Paolo Giacobini Franziska Phan-Hug Tal Buki Manuel Tena-Sempere Nelly Pitteloud Riitta Veijola Marita Lipsanen-Nyman Kari Kaunisto Patrice Mollard Cynthia L. Andoniadou Joel A. Hirsch Markku Varjosalo Thomas Jespersen Taneli Raivio
author_facet	Johanna Tommiska Johanna Känsäkoski Lasse Skibsbye Kirsi Vaaralahti Xiaonan Liu Emily J. Lodge Chuyi Tang Lei Yuan Rainer Fagerholm Jørgen K. Kanters Päivi Lahermo Mari Kaunisto Riikka Keski-Filppula Sanna Vuoristo Kristiina Pulli Tapani Ebeling Leena Valanne Eeva-Marja Sankila Sirpa Kivirikko Mitja Lääperi Filippo Casoni Paolo Giacobini Franziska Phan-Hug Tal Buki Manuel Tena-Sempere Nelly Pitteloud Riitta Veijola Marita Lipsanen-Nyman Kari Kaunisto Patrice Mollard Cynthia L. Andoniadou Joel A. Hirsch Markku Varjosalo Thomas Jespersen Taneli Raivio
author_sort	Johanna Tommiska
title	Two missense mutations in KCNQ1 cause pituitary hormone deficiency and maternally inherited gingival fibromatosis
title_short	Two missense mutations in KCNQ1 cause pituitary hormone deficiency and maternally inherited gingival fibromatosis
title_full	Two missense mutations in KCNQ1 cause pituitary hormone deficiency and maternally inherited gingival fibromatosis
title_fullStr	Two missense mutations in KCNQ1 cause pituitary hormone deficiency and maternally inherited gingival fibromatosis
title_full_unstemmed	Two missense mutations in KCNQ1 cause pituitary hormone deficiency and maternally inherited gingival fibromatosis
title_sort	two missense mutations in kcnq1 cause pituitary hormone deficiency and maternally inherited gingival fibromatosis
publisher	Nature Portfolio
publishDate	2017
url	https://doaj.org/article/b5b12ca766544223adfa800c677fab94
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Two missense mutations in KCNQ1 cause pituitary hormone deficiency and maternally inherited gingival fibromatosis

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