PMC Links for Books (Select 4960344) - PMC

Select item 72958791.

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

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

J Community Genet. 2020 Jul; 11(3): 279–284. Published online 2019 Dec 3. doi: 10.1007/s12687-019-00447-2

PMCID:: PMC7295879

Abstract Article PDF–459K

Select item 68782202.

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

Majid Arefi, Valerie Wilson, Siobhan Muthiah, Simon Zwolinski, Dalvir Bajwa, Paul Brennan, Katie Blasdale, David Bourn, John Burn, Mauro Santibanez-Koref, Neil Rajan

J Am Acad Dermatol. 2019 Dec; 81(6): 1300–1307. doi: 10.1016/j.jaad.2019.05.021

PMCID:: PMC6878220

Abstract Article PDF–2.1M

Select item 67978073.

Epigenetic modifiers DNMT3A and BCOR are recurrently mutated in CYLD cutaneous syndrome

Helen R. Davies, Kirsty Hodgson, Edward Schwalbe, Jonathan Coxhead, Naomi Sinclair, Xueqing Zou, Simon Cockell, Akhtar Husain, Serena Nik-Zainal, Neil Rajan

Nat Commun. 2019; 10: 4717. Published online 2019 Oct 17. doi: 10.1038/s41467-019-12746-w

PMCID:: PMC6797807

Abstract Article PDF–1.3M

Select item 65252464.

ALPK1 hotspot mutation as a driver of human spiradenoma and spiradenocarcinoma

Mamunur Rashid, Michiel van der Horst, Thomas Mentzel, Francesca Butera, Ingrid Ferreira, Alena Pance, Arno Rütten, Bostjan Luzar, Zlatko Marusic, Nicolas de Saint Aubain, Jennifer S. Ko, Steven D. Billings, Sofia Chen, Marie Abi Daoud, James Hewinson, Sandra Louzada, Paul W. Harms, Guia Cerretelli, Carla Daniela Robles-Espinoza, Rajiv M. Patel, Louise van der Weyden, Chris Bakal, Jason L. Hornick, Mark J. Arends, Thomas Brenn, David J. Adams

Nat Commun. 2019; 10: 2213. Published online 2019 May 17. doi: 10.1038/s41467-019-09979-0

PMCID:: PMC6525246

Abstract Article PDF–1.6M

Select item 62075035.

Tracking tumor kinetics in patients with germline CYLD mutations

Sarah Brown, Sylvia A. Worthy, James A.A. Langtry, Neil Rajan

J Am Acad Dermatol. 2018 Nov; 79(5): 949–951. doi: 10.1016/j.jaad.2018.04.014

PMCID:: PMC6207503

Article PDF–525K

Select item 61751226.

Inherited pulmonary cylindromas: extending the phenotype of CYLD mutation carriers

S.M. Brown, M. Arefi, R. Stones, P.S. Loo, S. Barnard, C. Bloxham, N. Stefanos, J.A.A. Langtry, S. Worthy, E. Calonje, A. Husain, N. Rajan

Br J Dermatol. 2018 Sep; 179(3): 662–668. Published online 2018 May 29. doi: 10.1111/bjd.16573

PMCID:: PMC6175122

Abstract Article PDF–1.7M

Select item 61667797.

A Mutational Hotspot in CYLD Causing Cylindromas: A Comparison of Phenotypes Arising in Different Genetic Backgrounds

Nikoletta Nagy, Neil Rajan, Katalin Farkas, Ágnes Kinyó, Lajos Kemény, Márta Széll

Acta Derm Venereol. Author manuscript; available in PMC 2018 Oct 1.

Published in final edited form as: Acta Derm Venereol. 2013 Nov; 93(6): 743–745. doi: 10.2340/00015555-1590

PMCID:: PMC6166779

Article PDF–734K

Select item 61285058.

Targeting Tropomyosin Receptor Kinase in Cutaneous CYLD Defective Tumors With Pegcantratinib: The TRAC Randomized Clinical Trial

Marina Danilenko, Elaine Stamp, Deborah D. Stocken, Akhtar Husain, Monique Zangarini, Amy Cranston, Robert Stones, Naomi Sinclair, Kirsty Hodgson, Susan A. Bowett, David Roblin, Silvio Traversa, Ruth Plummer, Gareth Veal, James A. A. Langtry, Alan Ashworth, John Burn, Neil Rajan

JAMA Dermatol. 2018 Aug; 154(8): 913–921. Published online 2018 Jun 27. doi: 10.1001/jamadermatol.2018.1610

PMCID:: PMC6128505

Abstract Article

Select item 60823429.

Enucleation of Cylindromas in Brooke-Spiegler Syndrome: A Novel Surgical Technique

David Brass, Neil Rajan, James Langtry

Dermatol Surg. Author manuscript; available in PMC 2018 Aug 8.

Published in final edited form as: Dermatol Surg. 2014 Dec; 40(12): 1438–1439. doi: 10.1097/DSS.0000000000000142

PMCID:: PMC6082342

Article PDF–742K

Select item 581759810.

Multiple Facial Trichoepitheliomas and Vulval Cysts: Extending the Phenotypic Spectrum in CYLD Cutaneous Syndrome

Anna Dubois, Angel Alonso-Sanchez, Vrinda Bajaj, Akhtar Husain, Neil Rajan

JAMA Dermatol. 2017 Aug; 153(8): 826–828. Published online 2017 Apr 19. doi: 10.1001/jamadermatol.2017.0321

PMCID:: PMC5817598

Abstract Article

Select item 500906411.

SPATA2-Mediated Binding of CYLD to HOIP Enables CYLD Recruitment to Signaling Complexes

Sebastian Kupka, Diego De Miguel, Peter Draber, Luigi Martino, Silvia Surinova, Katrin Rittinger, Henning Walczak

Cell Rep. 2016 Aug 30; 16(9): 2271–2280. Published online 2016 Aug 18. doi: 10.1016/j.celrep.2016.07.086

PMCID:: PMC5009064

Abstract Article

Select item 488520712.

Twelve Years’ Observation of Multiple Familial Trichoepithelioma with Squamous Carcinoma

Huifu Ma, Song Feng, Wenjun Pei, Feng Jin

Indian J Dermatol. 2016 May-Jun; 61(3): 348. doi: 10.4103/0019-5154.182464

PMCID:: PMC4885207

Abstract Article

Select item 483896613.

Brooke-Spiegler Syndrome and Phenotypic Variants: An Update

Dmitry V. Kazakov

Head Neck Pathol. 2016 Jun; 10(2): 125–130. Published online 2016 Mar 14. doi: 10.1007/s12105-016-0705-x

PMCID:: PMC4838966

Abstract Article PDF–3.4M

Select item 468803614.

LUBAC-Recruited CYLD and A20 Regulate Gene Activation and Cell Death by Exerting Opposing Effects on Linear Ubiquitin in Signaling Complexes

Peter Draber, Sebastian Kupka, Matthias Reichert, Helena Draberova, Elodie Lafont, Diego de Miguel, Lisanne Spilgies, Silvia Surinova, Lucia Taraborrelli, Torsten Hartwig, Eva Rieser, Luigi Martino, Katrin Rittinger, Henning Walczak

Cell Rep. 2015 Dec 15; 13(10): 2258–2272. Published online 2015 Dec 6. doi: 10.1016/j.celrep.2015.11.009

PMCID:: PMC4688036

Abstract Article

Select item 433927115.

<i>CYLD</i> GeneticTesting for Brooke-Spiegler Syndrome, Familial Cylindromatosis and Multiple Familial Trichoepitheliomas

Anna Dubois, Valerie Wilson, David Bourn, Neil Rajan

Version 1. PLoS Curr. 2015 Feb 19; 7: ecurrents.eogt.45c4e63dd43d62e12228cc5264d6a0db. Published online 2015 Feb 19. doi: 10.1371/currents.eogt.45c4e63dd43d62e12228cc5264d6a0db

PMCID:: PMC4339271

Abstract Article

Select item 399905016.

Whole exome sequencing of adenoid cystic carcinoma

Philip J. Stephens, Helen R. Davies, Yoshitsugu Mitani, Peter Van Loo, Adam Shlien, Patrick S. Tarpey, Elli Papaemmanuil, Angela Cheverton, Graham R. Bignell, Adam P. Butler, John Gamble, Stephen Gamble, Claire Hardy, Jonathan Hinton, Mingming Jia, Alagu Jayakumar, David Jones, Calli Latimer, Stuart McLaren, David J. McBride, Andrew Menzies, Laura Mudie, Mark Maddison, Keiran Raine, Serena Nik-Zainal, Sarah O’Meara, Jon W. Teague, Ignacio Varela, David C. Wedge, Ian Whitmore, Scott M. Lippman, Ultan McDermott, Michael R. Stratton, Peter J. Campbell, Adel K. El-Naggar, P. Andrew Futreal

J Clin Invest. 2013 Jul 1; 123(7): 2965–2968. Published online 2013 Jun 17. doi: 10.1172/JCI67201

PMCID:: PMC3999050

Abstract Article PDF–502K

Select item 348186917.

Multiple familial trichoepitheliomas in association with squamous cell carcinoma

Satyaki Ganguly, Kranti C. Jaykar, P. K. Banerjee, Rajesh Kumar, Niyaz Ahmed

Indian Dermatol Online J. 2012 May-Aug; 3(2): 151–153. doi: 10.4103/2229-5178.96726

PMCID:: PMC3481869

Article PDF–1.9M

Select item 317510318.

Dysregulated TRK Signalling is a Therapeutic Target in CYLD Defective Tumours

Neil Rajan, Richard Elliott, Oliver Clewes, Alan Mackay, Jorge S. Reis-Filho, John Burn, James Langtry, Maya Sieber-Blum, Christopher J. Lord, Alan Ashworth

Oncogene. Author manuscript; available in PMC 2012 Apr 13.

Published in final edited form as: Oncogene. 2011 Oct 13; 30(41): 4243–4260. Published online 2011 May 9. doi: 10.1038/onc.2011.133

PMCID:: PMC3175103

Abstract Article PDF–5.3M

Select item 293568119.

Tumor mapping in two large multigeneration families with CYLD mutations: Implications for patient management and tumor induction

N Rajan, J A A Langtry, A Ashworth, C Roberts, P Chapman, J Burn, A H Trainer

Arch Dermatol. Author manuscript; available in PMC 2010 Sep 8.

Published in final edited form as: Arch Dermatol. 2009 Nov; 145(11): 1277–1284. doi: 10.1001/archdermatol.2009.262

PMCID:: PMC2935681

Abstract Article PDF–2.1M

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