Literature DB >> 24715715

A patient with Cantú syndrome associated with fatal bronchopulmonary dysplasia and pulmonary hypertension.

Jae Young Park1, Soo Hyun Koo, Yu Jin Jung, Yun-Jung Lim, Mi Lim Chung.   

Abstract

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Year:  2014        PMID: 24715715     DOI: 10.1002/ajmg.a.36563

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN: 1552-4825            Impact factor:   2.802


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  7 in total

Review 1.  ABCC9/SUR2 in the brain: Implications for hippocampal sclerosis of aging and a potential therapeutic target.

Authors:  Peter T Nelson; Gregory A Jicha; Wang-Xia Wang; Eseosa Ighodaro; Sergey Artiushin; Colin G Nichols; David W Fardo
Journal:  Ageing Res Rev       Date:  2015-07-28       Impact factor: 10.895

Review 2.  Pulmonary Hypertension and ATP-Sensitive Potassium Channels.

Authors:  Conor McClenaghan; Kel Vin Woo; Colin G Nichols
Journal:  Hypertension       Date:  2019-05-28       Impact factor: 10.190

Review 3.  Genetic Discovery of ATP-Sensitive K+ Channels in Cardiovascular Diseases.

Authors:  Yan Huang; Dan Hu; Congxin Huang; Colin G Nichols
Journal:  Circ Arrhythm Electrophysiol       Date:  2019-05

Review 4.  Channelopathy Genes in Pulmonary Arterial Hypertension.

Authors:  Carrie L Welch; Wendy K Chung
Journal:  Biomolecules       Date:  2022-02-07

5.  Glibenclamide treatment in a Cantú syndrome patient with a pathogenic ABCC9 gain-of-function variant: Initial experience.

Authors:  Alan Ma; Sunita Gurnasinghani; Edwin P Kirk; Conor McClenaghan; Gautam K Singh; Dorothy K Grange; Chetan Pandit; Yung Zhu; Tony Roscioli; George Elakis; Michael Buckley; Bhavesh Mehta; Philip Roberts; Jonathan Mervis; Andrew Biggin; Colin G Nichols
Journal:  Am J Med Genet A       Date:  2019-06-07       Impact factor: 2.802

Review 6.  Implication of Potassium Channels in the Pathophysiology of Pulmonary Arterial Hypertension.

Authors:  Hélène Le Ribeuz; Véronique Capuano; Barbara Girerd; Marc Humbert; David Montani; Fabrice Antigny
Journal:  Biomolecules       Date:  2020-09-01

7.  Novel mutation in ABBC9 gene associated with congenital hypertrichosis and acromegaloid facial features, without cardiac or skeletal anomalies: a new phenotype.

Authors:  Harry Pachajoa; William López-Quintero; Sara Vanegas; Claudia L Montoya; Diana Ramírez-Montaño
Journal:  Appl Clin Genet       Date:  2018-03-23
  7 in total

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