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Literature DB >> 19471312

Mutation in the SLC9A6 gene is not a frequent cause of sporadic Angelman-like syndrome.

Yann Fichou, Nadia Bahi-Buisson, Juliette Nectoux, Jamel Chelly, Delphine Héron, Laurence Cuisset, Thierry Bienvenu.

Abstract

Entities: Disease Gene Mutation

Mesh：

Substances：

Year: 2009 PMID： 19471312 PMCID： PMC2986687 DOI： 10.1038/ejhg.2009.82

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

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11 in total

1. Aetiology in severe and mild mental retardation: a population-based study of Norwegian children.

Authors: P Strømme
Journal: Dev Med Child Neurol Date: 2000-02 Impact factor: 5.449

2. Four Na+/H+ exchanger isoforms are distributed to Golgi and post-Golgi compartments and are involved in organelle pH regulation.

Authors: Norihiro Nakamura; Shingo Tanaka; Yoshinori Teko; Keiji Mitsui; Hiroshi Kanazawa
Journal: J Biol Chem Date: 2004-11-02 Impact factor: 5.157

3. Angelman syndrome 2005: updated consensus for diagnostic criteria.

Authors: Charles A Williams; Arthur L Beaudet; Jill Clayton-Smith; Joan H Knoll; Martin Kyllerman; Laura A Laan; R Ellen Magenis; Ann Moncla; Albert A Schinzel; Jane A Summers; Joseph Wagstaff
Journal: Am J Med Genet A Date: 2006-03-01 Impact factor: 2.802

4. Clinical, cytogenetic, and molecular diagnosis of Angelman syndrome: estimated prevalence rate in a Danish county.

Authors: M B Petersen; K Brøndum-Nielsen; L K Hansen; K Wulff
Journal: Am J Med Genet Date: 1995-06-19

5. Human Na(+)/H(+) exchanger isoform 6 is found in recycling endosomes of cells, not in mitochondria.

Authors: Christopher L Brett; Ying Wei; Mark Donowitz; Rajini Rao
Journal: Am J Physiol Cell Physiol Date: 2002-05 Impact factor: 4.249

Review 6. The overlapping spectrum of rett and angelman syndromes: a clinical review.

Authors: Kerry Baldwin Jedele
Journal: Semin Pediatr Neurol Date: 2007-09 Impact factor: 1.636

7. SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome.

Authors: Gregor D Gilfillan; Kaja K Selmer; Ingrid Roxrud; Raffaella Smith; Mårten Kyllerman; Kristin Eiklid; Mette Kroken; Morten Mattingsdal; Thore Egeland; Harald Stenmark; Hans Sjøholm; Andres Server; Lena Samuelsson; Arnold Christianson; Patrick Tarpey; Annabel Whibley; Michael R Stratton; P Andrew Futreal; Jon Teague; Sarah Edkins; Jozef Gecz; Gillian Turner; F Lucy Raymond; Charles Schwartz; Roger E Stevenson; Dag E Undlien; Petter Strømme
Journal: Am J Hum Genet Date: 2008-03-13 Impact factor: 11.025

8. A long-term population-based clinical and morbidity profile of Angelman syndrome in Western Australia: 1953-2003.

Authors: A K Thomson; E J Glasson; A H Bittles
Journal: Disabil Rehabil Date: 2006-03-15 Impact factor: 3.033

Review 9. Angelman syndrome: a review of the clinical and genetic aspects.

Authors: J Clayton-Smith; L Laan
Journal: J Med Genet Date: 2003-02 Impact factor: 6.318

10. Angelman syndrome: consensus for diagnostic criteria. Angelman Syndrome Foundation.

Authors: C A Williams; H Angelman; J Clayton-Smith; D J Driscoll; J E Hendrickson; J H Knoll; R E Magenis; A Schinzel; J Wagstaff; E M Whidden
Journal: Am J Med Genet Date: 1995-03-27

11 in total

1. Assorted dysfunctions of endosomal alkali cation/proton exchanger SLC9A6 variants linked to Christianson syndrome.

Authors: Alina Ilie; Annie Boucher; Jaeok Park; Albert Marinus Berghuis; R Anne McKinney; John Orlowski
Journal: J Biol Chem Date: 2020-04-10 Impact factor: 5.157

2. Complex Neurological Phenotype in Female Carriers of NHE6 Mutations.

Authors: Matthew F Pescosolido; Brian C Kavanaugh; Nathalie Pochet; Michael Schmidt; Beth A Jerskey; Jeffrey M Rogg; Philip L De Jager; Tracy L Young-Pearse; Judy S Liu; Eric M Morrow
Journal: Mol Neuropsychiatry Date: 2019-03-06

3. Genetic and phenotypic diversity of NHE6 mutations in Christianson syndrome.

Authors: Matthew F Pescosolido; David M Stein; Michael Schmidt; Christelle Moufawad El Achkar; Mark Sabbagh; Jeffrey M Rogg; Umadevi Tantravahi; Rebecca L McLean; Judy S Liu; Annapurna Poduri; Eric M Morrow
Journal: Ann Neurol Date: 2014-09-19 Impact factor: 10.422

Review 4. Emerging roles of Na⁺/H⁺ exchangers in epilepsy and developmental brain disorders.

Authors: Hanshu Zhao; Karen E Carney; Lindsay Falgoust; Jullie W Pan; Dandan Sun; Zhongling Zhang
Journal: Prog Neurobiol Date: 2016-03-08 Impact factor: 11.685

Review 5. The expanding phenotypic spectrum of female SLC9A6 mutation carriers: a case series and review of the literature.

Authors: Pierre Sinajon; Deborah Verbaan; Joyce So
Journal: Hum Genet Date: 2016-05-03 Impact factor: 4.132

6. Functional analysis of Na⁺/H⁺ exchanger 9 variants identified in patients with autism and epilepsy.

Authors: Hari Prasad; James Osei-Owusu; Rajini Rao
Journal: Matters (Zur) Date: 2017-05-22

7. Identification of candidate gene FAM183A and novel pathogenic variants in known genes: High genetic heterogeneity for autosomal recessive intellectual disability.

Authors: Megan McSherry; Katherine E Masih; Nursel H Elcioglu; Pelin Celik; Ozge Balci; Filiz Basak Cengiz; Daniella Nunez; Claire J Sineni; Serhat Seyhan; Defne Kocaoglu; Shengru Guo; Duygu Duman; Guney Bademci; Mustafa Tekin
Journal: PLoS One Date: 2018-11-30 Impact factor: 3.240