Literature DB >> 19914433

Neoplasia in familial dysautonomia: a 20-year review in a young patient population.

Gabrielle Gold-von Simson1, Eleny Romanos-Sirakis, Channa Maayan, Felicia B Axelrod.   

Abstract

We reviewed the charts of all patients with familial dysautonomia (n = 631) and found that 2% had been diagnosed with tumors. We hypothesize that the IkappaB Kinase-associated protein gene mutation, which causes aberrant RNA splicing in patients with familial dysautonomia, may contribute to tumorigenesis in this genetically homogenous patient population.

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Year:  2009        PMID： 19914433     DOI： 10.1016/j.jpeds.2009.04.055

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


  3 in total

1.  Elongator and codon bias regulate protein levels in mammalian peripheral neurons.

Authors:  Joy Goffena; Frances Lefcort; Yongqing Zhang; Elin Lehrmann; Marta Chaverra; Jehremy Felig; Joseph Walters; Richard Buksch; Kevin G Becker; Lynn George
Journal:  Nat Commun       Date:  2018-03-01       Impact factor: 14.919

2.  Increased Incidence of Tumors With the IKBKAP Gene Mutation? A Case Report and Review of the Literature.

Authors:  Marianna Shvartsbeyn; Amy Rapkiewicz; Felicia Axelrod; Horacio Kaufmann
Journal:  World J Oncol       Date:  2011-02-26

3.  Germline Elongator mutations in Sonic Hedgehog medulloblastoma.

Authors:  Sebastian M Waszak; Giles W Robinson; Brian L Gudenas; Kyle S Smith; Antoine Forget; Marija Kojic; Jesus Garcia-Lopez; Jennifer Hadley; Kayla V Hamilton; Emilie Indersie; Ivo Buchhalter; Jules Kerssemakers; Natalie Jäger; Tanvi Sharma; Tobias Rausch; Marcel Kool; Dominik Sturm; David T W Jones; Aksana Vasilyeva; Ruth G Tatevossian; Geoffrey Neale; Bérangère Lombard; Damarys Loew; Joy Nakitandwe; Michael Rusch; Daniel C Bowers; Anne Bendel; Sonia Partap; Murali Chintagumpala; John Crawford; Nicholas G Gottardo; Amy Smith; Christelle Dufour; Stefan Rutkowski; Tone Eggen; Finn Wesenberg; Kristina Kjaerheim; Maria Feychting; Birgitta Lannering; Joachim Schüz; Christoffer Johansen; Tina V Andersen; Martin Röösli; Claudia E Kuehni; Michael Grotzer; Marc Remke; Stéphanie Puget; Kristian W Pajtler; Till Milde; Olaf Witt; Marina Ryzhova; Andrey Korshunov; Brent A Orr; David W Ellison; Laurence Brugieres; Peter Lichter; Kim E Nichols; Amar Gajjar; Brandon J Wainwright; Olivier Ayrault; Jan O Korbel; Paul A Northcott; Stefan M Pfister
Journal:  Nature       Date:  2020-04-01       Impact factor: 49.962
  3 in total

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