Literature DB >> 23584127

A mutational hotspot in CYLD causing cylindromas: a comparison of phenotypes arising in different genetic backgrounds.

Nikoletta Nagy1, Neil Rajan, Katalin Farkas, Agnes Kinyó, Lajos Kemény, Márta Széll.   

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Year:  2013        PMID： 23584127      PMCID： PMC6166779          DOI： 10.2340/00015555-1590

Source DB:  PubMed          Journal:  Acta Derm Venereol        ISSN： 0001-5555            Impact factor:   4.437


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  12 in total

1.  Identification of the familial cylindromatosis tumour-suppressor gene.

Authors:  G R Bignell; W Warren; S Seal; M Takahashi; E Rapley; R Barfoot; H Green; C Brown; P J Biggs; S R Lakhani; C Jones; J Hansen; E Blair; B Hofmann; R Siebert; G Turner; D G Evans; C Schrander-Stumpel; F A Beemer; A van Den Ouweland; D Halley; B Delpech; M G Cleveland; I Leigh; J Leisti; S Rasmussen
Journal:  Nat Genet       Date:  2000-06       Impact factor: 38.330

2.  Turban tumour.

Authors:  C D EVANS
Journal:  Br J Dermatol       Date:  1954-12       Impact factor: 9.302

3.  Brooke-Spiegler syndrome: report of 10 patients from 8 families with novel germline mutations: evidence of diverse somatic mutations in the same patient regardless of tumor type.

Authors:  Radek Sima; Tomas Vanecek; Denisa Kacerovska; Pavel Trubac; Bernard Cribier; Arno Rutten; Marina Vazmitel; Dominic V Spagnolo; Radek Litvik; Yvetta Vantuchova; Wolfgang Weyers; Robert L Pearce; John Pearn; Michal Michal; Dmitry V Kazakov
Journal:  Diagn Mol Pathol       Date:  2010-06

4.  Mutated cylindromatosis gene affects the functional state of dendritic cells.

Authors:  Matthias Bros; Nadine Dexheimer; Verena Besche; Joumana Masri; Stefanie Trojandt; Nadine Hövelmeyer; Sonja Reissig; Ramin Massoumi; Stephan Grabbe; Ari Waisman; Angelika B Reske-Kunz
Journal:  Eur J Immunol       Date:  2010-10       Impact factor: 5.532

5.  Mutations in the CYLD gene in Brooke-Spiegler syndrome, familial cylindromatosis, and multiple familial trichoepithelioma: lack of genotype-phenotype correlation.

Authors:  Sarah Bowen; Melissa Gill; David A Lee; Galen Fisher; Roy G Geronemus; Marialuisa Espinel Vazquez; Julide Tok Celebi
Journal:  J Invest Dermatol       Date:  2005-05       Impact factor: 8.551

6.  Truncation of the catalytic domain of the cylindromatosis tumor suppressor impairs lung maturation.

Authors:  Eirini Trompouki; Ageliki Tsagaratou; Stylianos K Kosmidis; Pascal Dollé; Jun Qian; Dimitris L Kontoyiannis; Wellington V Cardoso; George Mosialos
Journal:  Neoplasia       Date:  2009-05       Impact factor: 5.715

7.  Phenotype diversity in familial cylindromatosis: a frameshift mutation in the tumor suppressor gene CYLD underlies different tumors of skin appendages.

Authors:  Pamela Poblete Gutiérrez; Thomas Eggermann; Daniela Höller; Frank K Jugert; Torsten Beermann; Elke-Ingrid Grussendorf-Conen; Klaus Zerres; Hans F Merk; Jorge Frank
Journal:  J Invest Dermatol       Date:  2002-08       Impact factor: 8.551

8.  Transition from cylindroma to spiradenoma in CYLD-defective tumours is associated with reduced DKK2 expression.

Authors:  Neil Rajan; John Burn; James Langtry; Maya Sieber-Blum; Christopher J Lord; Alan Ashworth
Journal:  J Pathol       Date:  2011-05-19       Impact factor: 7.996

9.  Tumor mapping in 2 large multigenerational families with CYLD mutations: implications for disease management and tumor induction.

Authors:  Neil Rajan; James A A Langtry; Alan Ashworth; Catherine Roberts; Pam Chapman; John Burn; Alison H Trainer
Journal:  Arch Dermatol       Date:  2009-11

10.  Dysregulated TRK signalling is a therapeutic target in CYLD defective tumours.

Authors:  N Rajan; R Elliott; O Clewes; A Mackay; J S Reis-Filho; J Burn; J Langtry; M Sieber-Blum; C J Lord; A Ashworth
Journal:  Oncogene       Date:  2011-05-09       Impact factor: 9.867
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  3 in total

1.  A large family with CYLD cutaneous syndrome: medical genetics at the community level.

Authors:  Anderson Pontes Arruda; Augusto César Cardoso-Dos-Santos; Luiza Monteavaro Mariath; Mariléa Furtado Feira; Thayne Woycinck Kowalski; Kalina Ribeiro Fontenele Bezerra; Leonardo Augusto Coelho Torres da Silva; Erlane Marques Ribeiro; Lavinia Schuler-Faccini
Journal:  J Community Genet       Date:  2019-12-03

2.  The CYLD p.R758X worldwide recurrent nonsense mutation detected in patients with multiple familial trichoepithelioma type 1, Brooke-Spiegler syndrome and familial cylindromatosis represents a mutational hotspot in the gene.

Authors:  Katalin Farkas; Barbara Kocsis Deák; Laura Cubells Sánchez; Ana Mercedes Victoria Martínez; Juan José Vilata Corell; Alfredo Montoro Botella; Goitzane Marcaida Benito; Raquel Rodríguez López; Tomas Vanecek; Dmitry V Kazakov; Joan N R Kromosoeto; Ans M W van den Ouweland; János Varga; Márta Széll; Nikoletta Nagy
Journal:  BMC Genet       Date:  2016-02-09       Impact factor: 2.797

3.  Diverse presentations of cutaneous mosaicism occur in CYLD cutaneous syndrome and may result in parent-to-child transmission.

Authors:  Majid Arefi; Valerie Wilson; Siobhan Muthiah; Simon Zwolinski; Dalvir Bajwa; Paul Brennan; Katie Blasdale; David Bourn; John Burn; Mauro Santibanez-Koref; Neil Rajan
Journal:  J Am Acad Dermatol       Date:  2019-05-11       Impact factor: 11.527
  3 in total

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