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Items: 1 to 50 of 149

1.

A novel homozygous nonsense mutation in CAST associated with PLACK syndrome.

Temel ŞG, Karakaş B, Şeker Ü, Turkgenç B, Zorlu Ö, Sarıcaoğlu H, Oğur Ç, Kütük Ö, Kelsell DP, Yakıcıer MC.

Cell Tissue Res. 2019 Aug 7. doi: 10.1007/s00441-019-03077-9. [Epub ahead of print]

PMID:
31392520
2.

Loss-of-function desmoplakin I and II mutations underlie dominant arrhythmogenic cardiomyopathy with a hair and skin phenotype.

Maruthappu T, Posafalvi A, Castelletti S, Delaney PJ, Syrris P, O'Toole EA, Green KJ, Elliott PM, Lambiase PD, Tinker A, McKenna WJ, Kelsell DP.

Br J Dermatol. 2019 May;180(5):1114-1122. doi: 10.1111/bjd.17388. Epub 2019 Jan 2.

PMID:
30382575
3.

Exome Sequencing and Rare Variant Analysis Reveals Multiple Filaggrin Mutations in Bangladeshi Families with Atopic Eczema and Additional Risk Genes.

Pigors M, Common JEA, Wong XFCC, Malik S, Scott CA, Tabarra N, Liany H, Liu J, Limviphuvadh V, Maurer-Stroh S, Tang MBY, Lench N, Margolis DJ, van Heel DA, Mein CA, Novak N, Baurecht H, Weidinger S, McLean WHI, Irvine AD, O'Toole EA, Simpson MA, Kelsell DP.

J Invest Dermatol. 2018 Dec;138(12):2674-2677. doi: 10.1016/j.jid.2018.05.013. Epub 2018 May 30. No abstract available.

PMID:
29857066
4.

p63 is a key regulator of iRHOM2 signalling in the keratinocyte stress response.

Arcidiacono P, Webb CM, Brooke MA, Zhou H, Delaney PJ, Ng KE, Blaydon DC, Tinker A, Kelsell DP, Chikh A.

Nat Commun. 2018 Mar 9;9(1):1021. doi: 10.1038/s41467-018-03470-y.

5.

A Novel Mechanism for Activation of GLI1 by Nuclear SMO That Escapes Anti-SMO Inhibitors.

Rahman MM, Hazan A, Selway JL, Herath DS, Harwood CA, Pirzado MS, Atkar R, Kelsell DP, Linton KJ, Philpott MP, Neill GW.

Cancer Res. 2018 May 15;78(10):2577-2588. doi: 10.1158/0008-5472.CAN-17-2897. Epub 2018 Feb 20.

6.

Noonan syndrome with multiple lentigines and associated craniosynostosis.

McDonald BS, Pigors M, Kelsell DP, O'Toole EA, Burkitt-Wright E, Kerr B, Batta K.

Clin Exp Dermatol. 2018 Apr;43(3):357-359. doi: 10.1111/ced.13329. Epub 2018 Jan 22. No abstract available.

PMID:
29356064
7.

Cellular biomechanics impairment in keratinocytes is associated with a C-terminal truncated desmoplakin: An atomic force microscopy investigation.

Puzzi L, Borin D, Martinelli V, Mestroni L, Kelsell DP, Sbaizero O.

Micron. 2018 Mar;106:27-33. doi: 10.1016/j.micron.2017.12.005. Epub 2017 Dec 19.

PMID:
29291530
8.

Recessive Mutation in FAM83G Associated with Palmoplantar Keratoderma and Exuberant Scalp Hair.

Maruthappu T, McGinty LA, Blaydon DC, Fell B, Määttä A, Duit R, Hawkins T, Braun KM, Simpson MA, O'Toole EA, Kelsell DP.

J Invest Dermatol. 2018 Apr;138(4):984-987. doi: 10.1016/j.jid.2017.10.031. Epub 2017 Nov 11. No abstract available.

9.

Biallelic Mutations in KDSR Disrupt Ceramide Synthesis and Result in a Spectrum of Keratinization Disorders Associated with Thrombocytopenia.

Takeichi T, Torrelo A, Lee JYW, Ohno Y, Lozano ML, Kihara A, Liu L, Yasuda Y, Ishikawa J, Murase T, Rodrigo AB, Fernández-Crehuet P, Toi Y, Mellerio J, Rivera J, Vicente V, Kelsell DP, Nishimura Y, Okuno Y, Kojima D, Ogawa Y, Sugiura K, Simpson MA, McLean WHI, Akiyama M, McGrath JA.

J Invest Dermatol. 2017 Nov;137(11):2344-2353. doi: 10.1016/j.jid.2017.06.028. Epub 2017 Jul 31.

10.

A profile of lipid dysregulation in harlequin ichthyosis.

Ip SCI, Cottle DL, Jones LK, Weir JM, Kelsell DP, O'Toole EA, Meikle PJ, Smyth IM.

Br J Dermatol. 2017 Nov;177(5):e217-e219. doi: 10.1111/bjd.15642. Epub 2017 Oct 19. No abstract available.

PMID:
28493316
11.

Rhomboid family member 2 regulates cytoskeletal stress-associated Keratin 16.

Maruthappu T, Chikh A, Fell B, Delaney PJ, Brooke MA, Levet C, Moncada-Pazos A, Ishida-Yamamoto A, Blaydon D, Waseem A, Leigh IM, Freeman M, Kelsell DP.

Nat Commun. 2017 Jan 27;8:14174. doi: 10.1038/ncomms14174.

12.

Corrigendum: ADAM17/EGFR axis promotes transglutaminase-dependent skin barrier formation through phospholipase C γ1 and protein kinase C pathways.

Wolf C, Qian Y, Brooke MA, Kelsell DP, Franzke CW.

Sci Rep. 2017 Jan 23;7:41343. doi: 10.1038/srep41343. No abstract available.

13.

ADAM17/EGFR axis promotes transglutaminase-dependent skin barrier formation through phospholipase C γ1 and protein kinase C pathways.

Wolf C, Qian Y, Brooke MA, Kelsell DP, Franzke CW.

Sci Rep. 2016 Dec 22;6:39780. doi: 10.1038/srep39780. Erratum in: Sci Rep. 2017 Jan 23;7:41343.

14.

New ANTXR1 Gene Mutation for GAPO Syndrome: A Case Report.

Salas-Alanís JC, Scott CA, Fajardo-Ramírez OR, Duran C, Moreno-Treviño MG, Kelsell DP.

Mol Syndromol. 2016 Jul;7(3):160-3. doi: 10.1159/000446619. Epub 2016 Jun 2.

15.

Loss-of-Function Mutations in SERPINB8 Linked to Exfoliative Ichthyosis with Impaired Mechanical Stability of Intercellular Adhesions.

Pigors M, Sarig O, Heinz L, Plagnol V, Fischer J, Mohamad J, Malchin N, Rajpopat S, Kharfi M, Lestringant GG, Sprecher E, Kelsell DP, Blaydon DC.

Am J Hum Genet. 2016 Aug 4;99(2):430-6. doi: 10.1016/j.ajhg.2016.06.004. Epub 2016 Jul 28.

16.

DNAJC21 Mutations Link a Cancer-Prone Bone Marrow Failure Syndrome to Corruption in 60S Ribosome Subunit Maturation.

Tummala H, Walne AJ, Williams M, Bockett N, Collopy L, Cardoso S, Ellison A, Wynn R, Leblanc T, Fitzgibbon J, Kelsell DP, van Heel DA, Payne E, Plagnol V, Dokal I, Vulliamy T.

Am J Hum Genet. 2016 Jul 7;99(1):115-24. doi: 10.1016/j.ajhg.2016.05.002. Epub 2016 Jun 23.

17.

Cover image: Unpeeling the layers of harlequin ichthyosis.

Harris AG, Choy C, Pigors M, Kelsell DP, Murrell DF.

Br J Dermatol. 2016 May;174(5):1160-1. doi: 10.1111/bjd.14469. No abstract available.

PMID:
27206363
18.

Cardiomyopathy diagnosed in the eldest child harbouring p.S24X mutation in JUP.

Boente Mdel C, Nanda A, Baselaga PA, Kelsell DP, McGrath JA, South AP.

Br J Dermatol. 2016 Sep;175(3):644-6. doi: 10.1111/bjd.14617. Epub 2016 Jul 25. No abstract available.

PMID:
27037756
19.

Genomic Landscape of Esophageal Squamous Cell Carcinoma in a Japanese Population.

Sawada G, Niida A, Uchi R, Hirata H, Shimamura T, Suzuki Y, Shiraishi Y, Chiba K, Imoto S, Takahashi Y, Iwaya T, Sudo T, Hayashi T, Takai H, Kawasaki Y, Matsukawa T, Eguchi H, Sugimachi K, Tanaka F, Suzuki H, Yamamoto K, Ishii H, Shimizu M, Yamazaki H, Yamazaki M, Tachimori Y, Kajiyama Y, Natsugoe S, Fujita H, Mafune K, Tanaka Y, Kelsell DP, Scott CA, Tsuji S, Yachida S, Shibata T, Sugano S, Doki Y, Akiyama T, Aburatani H, Ogawa S, Miyano S, Mori M, Mimori K.

Gastroenterology. 2016 May;150(5):1171-1182. doi: 10.1053/j.gastro.2016.01.035. Epub 2016 Feb 10.

20.

Acral peeling skin syndrome associated with a novel CSTA gene mutation.

Muttardi K, Nitoiu D, Kelsell DP, O'Toole EA, Batta K.

Clin Exp Dermatol. 2016 Jun;41(4):394-8. doi: 10.1111/ced.12777. Epub 2015 Dec 18.

PMID:
26684698
21.

Deletions in the cytoplasmic domain of iRhom1 and iRhom2 promote shedding of the TNF receptor by the protease ADAM17.

Maney SK, McIlwain DR, Polz R, Pandyra AA, Sundaram B, Wolff D, Ohishi K, Maretzky T, Brooke MA, Evers A, Vasudevan AA, Aghaeepour N, Scheller J, Münk C, Häussinger D, Mak TW, Nolan GP, Kelsell DP, Blobel CP, Lang KS, Lang PA.

Sci Signal. 2015 Nov 3;8(401):ra109. doi: 10.1126/scisignal.aac5356.

PMID:
26535007
22.

Tylosis with oesophageal cancer: Diagnosis, management and molecular mechanisms.

Ellis A, Risk JM, Maruthappu T, Kelsell DP.

Orphanet J Rare Dis. 2015 Sep 29;10:126. doi: 10.1186/s13023-015-0346-2. Review.

23.

Mutations in EDA and EDAR Genes in a Large Mexican Hispanic Cohort with Hypohidrotic Ectodermal Dysplasia.

Salas-Alanis JC, Wozniak E, Mein CA, Duran Mckinster CC, Ocampo-Candiani J, Kelsell DP, Hua R, Garza-Rodriguez ML, Choate KA, Barrera Saldaña HA.

Ann Dermatol. 2015 Aug;27(4):474-7. doi: 10.5021/ad.2015.27.4.474. Epub 2015 Jul 29. No abstract available.

24.

Evolution of Electrocardiographic and Structural Features Over 3 Decades in Arrhythmogenic Cardiomyopathy.

Abrams DJ, Kirkby C, Page SP, Earley MJ, Nitiou D, Kelsell DP, Schilling RJ.

Circulation. 2015 Jun 23;131(25):2233-5. doi: 10.1161/CIRCULATIONAHA.115.014371. No abstract available.

PMID:
26099957
25.

A novel frameshift MSX1 mutation in a Saudi family with autosomal dominant premolar and third molar agenesis.

AlFawaz S, Plagnol V, Wong FS, Kelsell DP.

Arch Oral Biol. 2015 Jul;60(7):982-8. doi: 10.1016/j.archoralbio.2015.02.023. Epub 2015 Mar 3.

PMID:
25874811
26.

Junctions in human health and inherited disease.

Getsios S, Kelsell DP, Forge A.

Cell Tissue Res. 2015 Jun;360(3):435-8. doi: 10.1007/s00441-015-2171-2. Epub 2015 Apr 11. No abstract available.

27.

Cell cycle- and cancer-associated gene networks activated by Dsg2: evidence of cystatin A deregulation and a potential role in cell-cell adhesion.

Gupta A, Nitoiu D, Brennan-Crispi D, Addya S, Riobo NA, Kelsell DP, Mahoney MG.

PLoS One. 2015 Mar 18;10(3):e0120091. doi: 10.1371/journal.pone.0120091. eCollection 2015.

28.

iASPP, a previously unidentified regulator of desmosomes, prevents arrhythmogenic right ventricular cardiomyopathy (ARVC)-induced sudden death.

Notari M, Hu Y, Sutendra G, Dedeić Z, Lu M, Dupays L, Yavari A, Carr CA, Zhong S, Opel A, Tinker A, Clarke K, Watkins H, Ferguson DJ, Kelsell DP, de Noronha S, Sheppard MN, Hollinshead M, Mohun TJ, Lu X.

Proc Natl Acad Sci U S A. 2015 Mar 3;112(9):E973-81. doi: 10.1073/pnas.1408111112. Epub 2015 Feb 17.

29.

Loss-of-function mutations in CAST cause peeling skin, leukonychia, acral punctate keratoses, cheilitis, and knuckle pads.

Lin Z, Zhao J, Nitoiu D, Scott CA, Plagnol V, Smith FJ, Wilson NJ, Cole C, Schwartz ME, McLean WH, Wang H, Feng C, Duo L, Zhou EY, Ren Y, Dai L, Chen Y, Zhang J, Xu X, O'Toole EA, Kelsell DP, Yang Y.

Am J Hum Genet. 2015 Mar 5;96(3):440-7. doi: 10.1016/j.ajhg.2014.12.026. Epub 2015 Feb 12.

30.

A severe collodion phenotype in the newborn period associated with a homozygous missense mutation in ALOX12B.

Bland PJ, Chronnell C, Plagnol V, Kayserili H, Kelsell DP.

Br J Dermatol. 2015 Jul;173(1):285-7. doi: 10.1111/bjd.13627. Epub 2015 May 18. No abstract available.

PMID:
25524567
31.

Exoming into rare skin disease: EGFR deficiency.

Brooke MA, O'Toole EA, Kelsell DP.

J Invest Dermatol. 2014 Oct;134(10):2486-2488. doi: 10.1038/jid.2014.228.

32.

Defective channels lead to an impaired skin barrier.

Blaydon DC, Kelsell DP.

J Cell Sci. 2014 Oct 15;127(Pt 20):4343-50. doi: 10.1242/jcs.154633. Epub 2014 Sep 1. Review.

33.

Discovery in genetic skin disease: the impact of high throughput genetic technologies.

Maruthappu T, Scott CA, Kelsell DP.

Genes (Basel). 2014 Aug 4;5(3):615-34. doi: 10.3390/genes5030615.

34.

Insights into desmosome biology from inherited human skin disease and cardiocutaneous syndromes.

Nitoiu D, Etheridge SL, Kelsell DP.

Cell Commun Adhes. 2014 Jun;21(3):129-40. doi: 10.3109/15419061.2014.908854. Epub 2014 Apr 16. Review.

PMID:
24738885
35.

iRHOM2-dependent regulation of ADAM17 in cutaneous disease and epidermal barrier function.

Brooke MA, Etheridge SL, Kaplan N, Simpson C, O'Toole EA, Ishida-Yamamoto A, Marches O, Getsios S, Kelsell DP.

Hum Mol Genet. 2014 Aug 1;23(15):4064-76. doi: 10.1093/hmg/ddu120. Epub 2014 Mar 18.

36.

Mutations in AQP5, encoding a water-channel protein, cause autosomal-dominant diffuse nonepidermolytic palmoplantar keratoderma.

Blaydon DC, Lind LK, Plagnol V, Linton KJ, Smith FJ, Wilson NJ, McLean WH, Munro CS, South AP, Leigh IM, O'Toole EA, Lundström A, Kelsell DP.

Am J Hum Genet. 2013 Aug 8;93(2):330-5. doi: 10.1016/j.ajhg.2013.06.008. Epub 2013 Jul 3.

37.

Current insights into protease dynamics in human epithelial disease and barrier function.

Curtis MA, Kelsell DP.

Cell Tissue Res. 2013 Feb;351(2):213-5. doi: 10.1007/s00441-013-1559-0. No abstract available.

PMID:
23324990
38.

Recessive oligodontia linked to a homozygous loss-of-function mutation in the SMOC2 gene.

Alfawaz S, Fong F, Plagnol V, Wong FS, Fearne J, Kelsell DP.

Arch Oral Biol. 2013 May;58(5):462-6. doi: 10.1016/j.archoralbio.2012.12.008. Epub 2013 Jan 11.

PMID:
23317772
39.

Cryptogenic multifocal ulcerating stenosing enteritis associated with homozygous deletion mutations in cytosolic phospholipase A2-α.

Brooke MA, Longhurst HJ, Plagnol V, Kirkby NS, Mitchell JA, Rüschendorf F, Warner TD, Kelsell DP, MacDonald TT.

Gut. 2014 Jan;63(1):96-104. doi: 10.1136/gutjnl-2012-303581. Epub 2012 Dec 25.

PMID:
23268370
40.

Rhomboid proteins: a role in keratinocyte proliferation and cancer.

Etheridge SL, Brooke MA, Kelsell DP, Blaydon DC.

Cell Tissue Res. 2013 Feb;351(2):301-7. doi: 10.1007/s00441-012-1542-1. Epub 2012 Dec 21. Review.

PMID:
23263464
41.

Connexin 26 facilitates gastrointestinal bacterial infection in vitro.

Simpson C, Kelsell DP, Marchès O.

Cell Tissue Res. 2013 Jan;351(1):107-16. doi: 10.1007/s00441-012-1502-9. Epub 2012 Nov 9.

PMID:
23138568
42.

Targeted sequence capture and high-throughput sequencing in the molecular diagnosis of ichthyosis and other skin diseases.

Scott CA, Plagnol V, Nitoiu D, Bland PJ, Blaydon DC, Chronnell CM, Poon DS, Bourn D, Gárdos L, Császár A, Tihanyi M, Rustin M, Burrows NP, Bennett C, Harper JI, Conrad B, Verma IC, Taibjee SM, Moss C, O'Toole EA, Kelsell DP.

J Invest Dermatol. 2013 Feb;133(2):573-6. doi: 10.1038/jid.2012.332. Epub 2012 Sep 20. No abstract available.

43.

A missense mutation in the MBTPS2 gene underlies the X-linked form of Olmsted syndrome.

Haghighi A, Scott CA, Poon DS, Yaghoobi R, Saleh-Gohari N, Plagnol V, Kelsell DP.

J Invest Dermatol. 2013 Feb;133(2):571-3. doi: 10.1038/jid.2012.289. Epub 2012 Aug 30. No abstract available.

44.

The DSPII splice variant is crucial for desmosome-mediated adhesion in HaCaT keratinocytes.

Cabral RM, Tattersall D, Patel V, McPhail GD, Hatzimasoura E, Abrams DJ, South AP, Kelsell DP.

J Cell Sci. 2012 Jun 15;125(Pt 12):2853-61. doi: 10.1242/jcs.084152. Epub 2012 Mar 27.

45.

RHBDF2 mutations are associated with tylosis, a familial esophageal cancer syndrome.

Blaydon DC, Etheridge SL, Risk JM, Hennies HC, Gay LJ, Carroll R, Plagnol V, McRonald FE, Stevens HP, Spurr NK, Bishop DT, Ellis A, Jankowski J, Field JK, Leigh IM, South AP, Kelsell DP.

Am J Hum Genet. 2012 Feb 10;90(2):340-6. doi: 10.1016/j.ajhg.2011.12.008. Epub 2012 Jan 19.

46.

Metastatic cutaneous squamous cell carcinoma shows frequent deletion in the protein tyrosine phosphatase receptor Type D gene.

Lambert SR, Harwood CA, Purdie KJ, Gulati A, Matin RN, Romanowska M, Cerio R, Kelsell DP, Leigh IM, Proby CM.

Int J Cancer. 2012 Aug 1;131(3):E216-26. doi: 10.1002/ijc.27333. Epub 2011 Dec 21.

47.

Inflammatory skin and bowel disease linked to ADAM17 deletion.

Blaydon DC, Biancheri P, Di WL, Plagnol V, Cabral RM, Brooke MA, van Heel DA, Ruschendorf F, Toynbee M, Walne A, O'Toole EA, Martin JE, Lindley K, Vulliamy T, Abrams DJ, MacDonald TT, Harper JI, Kelsell DP.

N Engl J Med. 2011 Oct 20;365(16):1502-8. doi: 10.1056/NEJMoa1100721.

48.

Cell-cell connectivity: desmosomes and disease.

Brooke MA, Nitoiu D, Kelsell DP.

J Pathol. 2012 Jan;226(2):158-71. doi: 10.1002/path.3027. Epub 2011 Nov 14. Review.

PMID:
21989576
49.

Mutations in CSTA, encoding Cystatin A, underlie exfoliative ichthyosis and reveal a role for this protease inhibitor in cell-cell adhesion.

Blaydon DC, Nitoiu D, Eckl KM, Cabral RM, Bland P, Hausser I, van Heel DA, Rajpopat S, Fischer J, Oji V, Zvulunov A, Traupe H, Hennies HC, Kelsell DP.

Am J Hum Genet. 2011 Oct 7;89(4):564-71. doi: 10.1016/j.ajhg.2011.09.001. Epub 2011 Sep 22.

50.

Connexins in epidermal homeostasis and skin disease.

Scott CA, Tattersall D, O'Toole EA, Kelsell DP.

Biochim Biophys Acta. 2012 Aug;1818(8):1952-61. doi: 10.1016/j.bbamem.2011.09.004. Epub 2011 Sep 10. Review.

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