Literature DB >> 25835193

Is there a link between COQ6 and schwannomatosis?

Eva Trevisson1, Maurizio Clementi1, Leonardo Salviati1.   

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Year:  2015        PMID： 25835193     DOI： 10.1038/gim.2014.211

Source DB:  PubMed          Journal:  Genet Med        ISSN： 1098-3600            Impact factor:   8.822


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  3 in total

1.  Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas.

Authors:  Arkadiusz Piotrowski; Jing Xie; Ying F Liu; Andrzej B Poplawski; Alicia R Gomes; Piotr Madanecki; Chuanhua Fu; Michael R Crowley; David K Crossman; Linlea Armstrong; Dusica Babovic-Vuksanovic; Amanda Bergner; Jaishri O Blakeley; Andrea L Blumenthal; Molly S Daniels; Howard Feit; Kathy Gardner; Stephanie Hurst; Christine Kobelka; Chung Lee; Rebecca Nagy; Katherine A Rauen; John M Slopis; Pim Suwannarat; Judith A Westman; Andrea Zanko; Bruce R Korf; Ludwine M Messiaen
Journal:  Nat Genet       Date:  2013-12-22       Impact factor: 38.330

2.  A germline missense mutation in COQ6 is associated with susceptibility to familial schwannomatosis.

Authors:  Keqiang Zhang; Jia-Wei Lin; Jinhui Wang; Xiwei Wu; Hanlin Gao; Yi-Chen Hsieh; Peter Hwu; Yun-Ru Liu; Leila Su; Hung-Yi Chiou; Daidong Wang; Yate-Ching Yuan; Jacqueline Whang-Peng; Wen-Ta Chiu; Yun Yen
Journal:  Genet Med       Date:  2014-04-24       Impact factor: 8.822

3.  Effect of vanillic acid on COQ6 mutants identified in patients with coenzyme Q10 deficiency.

Authors:  Mara Doimo; Eva Trevisson; Rannar Airik; Marc Bergdoll; Carlos Santos-Ocaña; Friedhelm Hildebrandt; Placido Navas; Fabien Pierrel; Leonardo Salviati
Journal:  Biochim Biophys Acta       Date:  2013-10-18
  3 in total
  3 in total

Review 1.  The molecular pathogenesis of schwannomatosis, a paradigm for the co-involvement of multiple tumour suppressor genes in tumorigenesis.

Authors:  Hildegard Kehrer-Sawatzki; Said Farschtschi; Victor-Felix Mautner; David N Cooper
Journal:  Hum Genet       Date:  2016-12-05       Impact factor: 4.132

2.  Response to Trevisson et al.

Authors:  Keqiang Zhang; Jia-Wei Lin; Wen-Ta Chiu; Yun Yen
Journal:  Genet Med       Date:  2015-04       Impact factor: 8.822

3.  Screening of potential novel candidate genes in schwannomatosis patients.

Authors:  Cristina Perez-Becerril; Andrew J Wallace; Helene Schlecht; Naomi L Bowers; Philip T Smith; Carolyn Gokhale; Helen Eaton; Chris Charlton; Rachel Robinson; Ruth S Charlton; D Gareth Evans; Miriam J Smith
Journal:  Hum Mutat       Date:  2022-06-27       Impact factor: 4.700
  3 in total

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