Literature DB >> 15338462

Germline PHOX2B mutation in hereditary neuroblastoma.

Yael P Mosse, Marci Laudenslager, Deepa Khazi, Alex J Carlisle, Cynthia L Winter, Eric Rappaport, John M Maris.   

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Year:  2004        PMID： 15338462      PMCID： PMC1182065          DOI： 10.1086/424530

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


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  12 in total

1.  The homeobox gene Phox2b is essential for the development of autonomic neural crest derivatives.

Authors:  A Pattyn; X Morin; H Cremer; C Goridis; J F Brunet
Journal:  Nature       Date:  1999-05-27       Impact factor: 49.962

Review 2.  Phox2 genes - from patterning to connectivity.

Authors:  Jean-François Brunet; Alexandre Pattyn
Journal:  Curr Opin Genet Dev       Date:  2002-08       Impact factor: 5.578

3.  Evidence for a hereditary neuroblastoma predisposition locus at chromosome 16p12-13.

Authors:  John M Maris; Matthew J Weiss; Yael Mosse; George Hii; Chun Guo; Peter S White; Michael D Hogarty; Tamar Mirensky; Garrett M Brodeur; Timothy R Rebbeck; Margrit Urbanek; Suzanne Shusterman
Journal:  Cancer Res       Date:  2002-11-15       Impact factor: 12.701

Review 4.  Molecular biology of neuroblastoma.

Authors:  J M Maris; K K Matthay
Journal:  J Clin Oncol       Date:  1999-07       Impact factor: 44.544

5.  Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome.

Authors:  Jeanne Amiel; Béatrice Laudier; Tania Attié-Bitach; Ha Trang; Loïc de Pontual; Blanca Gener; Delphine Trochet; Heather Etchevers; Pierre Ray; Michel Simonneau; Michel Vekemans; Arnold Munnich; Claude Gaultier; Stanislas Lyonnet
Journal:  Nat Genet       Date:  2003-03-17       Impact factor: 38.330

Review 6.  Treatment of neuroblastoma in patients with neurocristopathy syndromes.

Authors:  Eneida R Nemecek; Robert W Sawin; Julie Park
Journal:  J Pediatr Hematol Oncol       Date:  2003-02       Impact factor: 1.289

7.  Idiopathic congenital central hypoventilation syndrome: analysis of genes pertinent to early autonomic nervous system embryologic development and identification of mutations in PHOX2b.

Authors:  Debra E Weese-Mayer; Elizabeth M Berry-Kravis; Lili Zhou; Brion S Maher; Jean M Silvestri; Mark E Curran; Mary L Marazita
Journal:  Am J Med Genet A       Date:  2003-12-15       Impact factor: 2.802

8.  Coexistent neuroblastoma and Hirschsprung's disease--another manifestation of the neurocristopathy?

Authors:  G Gaisie; K S Oh; L W Young
Journal:  Pediatr Radiol       Date:  1979-07-24

9.  Germline mutations of the paired-like homeobox 2B (PHOX2B) gene in neuroblastoma.

Authors:  Delphine Trochet; Franck Bourdeaut; Isabelle Janoueix-Lerosey; Anne Deville; Loïc de Pontual; Gudrun Schleiermacher; Carole Coze; Nicole Philip; Thierry Frébourg; Arnold Munnich; Stanislas Lyonnet; Olivier Delattre; Jeanne Amiel
Journal:  Am J Hum Genet       Date:  2004-03-11       Impact factor: 11.025

10.  PHOX2B mutations and polyalanine expansions correlate with the severity of the respiratory phenotype and associated symptoms in both congenital and late onset Central Hypoventilation syndrome.

Authors:  I Matera; T Bachetti; F Puppo; M Di Duca; F Morandi; G M Casiraghi; M R Cilio; R Hennekam; R Hofstra; J G Schöber; R Ravazzolo; G Ottonello; I Ceccherini
Journal:  J Med Genet       Date:  2004-05       Impact factor: 6.318
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  95 in total

1.  ALK germline mutations in patients with neuroblastoma: a rare and weakly penetrant syndrome.

Authors:  Franck Bourdeaut; Sandrine Ferrand; Laurence Brugières; Marjorie Hilbert; Agnès Ribeiro; Ludovic Lacroix; Jean Bénard; Valérie Combaret; Jean Michon; Dominique Valteau-Couanet; Bertrand Isidor; Xavier Rialland; Maryline Poirée; Anne-Sophie Defachelles; Michel Peuchmaur; Gudrun Schleiermacher; Gaëlle Pierron; Marion Gauthier-Villars; Isabelle Janoueix-Lerosey; Olivier Delattre
Journal:  Eur J Hum Genet       Date:  2011-11-09       Impact factor: 4.246

Review 2.  Genetically engineered murine models--contribution to our understanding of the genetics, molecular pathology and therapeutic targeting of neuroblastoma.

Authors:  Louis Chesler; William A Weiss
Journal:  Semin Cancer Biol       Date:  2011-09-21       Impact factor: 15.707

Review 3.  Mechanisms of neuroblastoma regression.

Authors:  Garrett M Brodeur; Rochelle Bagatell
Journal:  Nat Rev Clin Oncol       Date:  2014-10-21       Impact factor: 66.675

Review 4.  New insights into the genetics of neuroblastoma.

Authors:  Srishma Sridhar; Batool Al-Moallem; Hawra Kamal; Marta Terrile; Raymond L Stallings
Journal:  Mol Diagn Ther       Date:  2013-04       Impact factor: 4.074

5.  Neuroblastoma phox2b variants stimulate proliferation and dedifferentiation of immature sympathetic neurons.

Authors:  Tobias Reiff; Konstantina Tsarovina; Afsaneh Majdazari; Mirko Schmidt; Isabel del Pino; Hermann Rohrer
Journal:  J Neurosci       Date:  2010-01-20       Impact factor: 6.167

6.  MYCN promotes the expansion of Phox2B-positive neuronal progenitors to drive neuroblastoma development.

Authors:  Goleeta Alam; Hongjuan Cui; Huilin Shi; Liqun Yang; Jane Ding; Ling Mao; William A Maltese; Han-Fei Ding
Journal:  Am J Pathol       Date:  2009-07-16       Impact factor: 4.307

7.  Exploiting gene expression profiling to identify novel minimal residual disease markers of neuroblastoma.

Authors:  Irene Y Cheung; Yi Feng; William Gerald; Nai-Kong V Cheung
Journal:  Clin Cancer Res       Date:  2008-11-01       Impact factor: 12.531

8.  Low aerobic mitochondrial energy metabolism in poorly- or undifferentiated neuroblastoma.

Authors:  Rene' G Feichtinger; Franz Zimmermann; Johannes A Mayr; Daniel Neureiter; Cornelia Hauser-Kronberger; Freimut H Schilling; Neil Jones; Wolfgang Sperl; Barbara Kofler
Journal:  BMC Cancer       Date:  2010-04-19       Impact factor: 4.430

9.  PHOX2B-mediated regulation of ALK expression: in vitro identification of a functional relationship between two genes involved in neuroblastoma.

Authors:  Tiziana Bachetti; Daniela Di Paolo; Simona Di Lascio; Valentina Mirisola; Chiara Brignole; Marta Bellotti; Irene Caffa; Chiara Ferraris; Michele Fiore; Diego Fornasari; Roberto Chiarle; Silvia Borghini; Ulrich Pfeffer; Mirco Ponzoni; Isabella Ceccherini; Patrizia Perri
Journal:  PLoS One       Date:  2010-10-01       Impact factor: 3.240

10.  The emerging molecular pathogenesis of neuroblastoma: implications for improved risk assessment and targeted therapy.

Authors:  Nadine Van Roy; Katleen De Preter; Jasmien Hoebeeck; Tom Van Maerken; Filip Pattyn; Pieter Mestdagh; Joëlle Vermeulen; Jo Vandesompele; Frank Speleman
Journal:  Genome Med       Date:  2009-07-27       Impact factor: 11.117
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