Literature DB >> 28051078

Clinical utility gene card for: Cantú syndrome.

Edwin P Kirk1,2, Ingrid Scurr3, Gijs van Haaften4, Mieke M van Haelst5,6, Colin G Nichols7, Maggie Williams8, Sarah F Smithson3, Dorothy K Grange9.   

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Year:  2017        PMID： 28051078      PMCID： PMC5386410          DOI： 10.1038/ejhg.2016.185

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN： 1018-4813            Impact factor:   4.246


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  8 in total

1.  Dominant missense mutations in ABCC9 cause Cantú syndrome.

Authors:  Magdalena Harakalova; Jeske J T van Harssel; Paulien A Terhal; Stef van Lieshout; Karen Duran; Ivo Renkens; David J Amor; Louise C Wilson; Edwin P Kirk; Claire L S Turner; Debbie Shears; Sixto Garcia-Minaur; Melissa M Lees; Alison Ross; Hanka Venselaar; Gert Vriend; Hiroki Takanari; Martin B Rook; Marcel A G van der Heyden; Folkert W Asselbergs; Hans M Breur; Marielle E Swinkels; Ingrid J Scurr; Sarah F Smithson; Nine V Knoers; Jasper J van der Smagt; Isaac J Nijman; Wigard P Kloosterman; Mieke M van Haelst; Gijs van Haaften; Edwin Cuppen
Journal:  Nat Genet       Date:  2012-05-18       Impact factor: 38.330

2.  Mutation of KCNJ8 in a patient with Cantú syndrome with unique vascular abnormalities - support for the role of K(ATP) channels in this condition.

Authors:  Catherine A Brownstein; Meghan C Towne; Lovelace J Luquette; David J Harris; Nicholas S Marinakis; Peter Meinecke; Kerstin Kutsche; Philippe M Campeau; Timothy W Yu; David M Margulies; Pankaj B Agrawal; Alan H Beggs
Journal:  Eur J Med Genet       Date:  2013-10-28       Impact factor: 2.708

3.  K(ATP) channel gain-of-function leads to increased myocardial L-type Ca(2+) current and contractility in Cantu syndrome.

Authors:  Mark D Levin; Gautam K Singh; Hai Xia Zhang; Keita Uchida; Beth A Kozel; Phyllis K Stein; Atilla Kovacs; Ruth E Westenbroek; William A Catterall; Dorothy Katherine Grange; Colin G Nichols
Journal:  Proc Natl Acad Sci U S A       Date:  2016-05-31       Impact factor: 11.205

4.  Cantú syndrome: report of nine new cases and expansion of the clinical phenotype.

Authors:  Ingrid Scurr; Louise Wilson; Melissa Lees; Stephen Robertson; Edwin Kirk; Anne Turner; John Morton; Alexa Kidd; Vandana Shashi; Christy Stanley; Margaret Berry; Alan D Irvine; David Goudie; Claire Turner; Carole Brewer; Sarah Smithson
Journal:  Am J Med Genet A       Date:  2011-02-22       Impact factor: 2.802

5.  Cantú syndrome is caused by mutations in ABCC9.

Authors:  Bregje W M van Bon; Christian Gilissen; Dorothy K Grange; Raoul C M Hennekam; Hülya Kayserili; Hartmut Engels; Heiko Reutter; John R Ostergaard; Eva Morava; Konstantinos Tsiakas; Bertrand Isidor; Martine Le Merrer; Metin Eser; Nienke Wieskamp; Petra de Vries; Marloes Steehouwer; Joris A Veltman; Stephen P Robertson; Han G Brunner; Bert B A de Vries; Alexander Hoischen
Journal:  Am J Hum Genet       Date:  2012-05-17       Impact factor: 11.025

6.  A distinct osteochondrodysplasia with hypertrichosis- Individualization of a probable autosomal recessive entity.

Authors:  J M Cantú; D García-Cruz; J Sánchez-Corona; A Hernández; Z Nazará
Journal:  Hum Genet       Date:  1982       Impact factor: 4.132

7.  Pseudoacromegaly induced by the long-term use of minoxidil.

Authors:  Kari H Nguyen; James G Marks
Journal:  J Am Acad Dermatol       Date:  2003-06       Impact factor: 11.527

8.  Cantú syndrome resulting from activating mutation in the KCNJ8 gene.

Authors:  Paige E Cooper; Heiko Reutter; Joachim Woelfle; Hartmut Engels; Dorothy K Grange; Gijs van Haaften; Bregje W van Bon; Alexander Hoischen; Colin G Nichols
Journal:  Hum Mutat       Date:  2014-05-06       Impact factor: 4.878
  8 in total
  1 in total

Review 1.  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
  1 in total

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