Browsing Centre for Cell Biology and Cutaneous Research by Author "Kelsell, DP"
Now showing items 1-20 of 23
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3D model of harlequin ichthyosis reveals inflammatory therapeutic targets
Enjalbert, F; Dewan, P; Caley, MP; Jones, EM; Morse, MA; Kelsell, DP; Enright, AJ; O'Toole, EA (2020-09-01) -
Absence of BRAF gene mutations in uveal melanomas in contrast to cutaneous melanomas
Edmunds, SC; Cree, IA; Di Nicolantonio, F; Hungerford, JL; Hurren, JS; Kelsell, DP (2003-05-06) -
ADAM17/EGFR axis promotes transglutaminase-dependent skin barrier formation through phosholipase C gamma 1 and protein kinase C pathways
Wolf, C; Qian, Y; Brooke, MA; Kelsell, DP; Franzke, C-W (2016-12-22) -
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 (2018-03)In a tissue continuously challenged by mechanical stresses, such as the skin or the heart, cells perceive information about their microenvironment through several adhesive protein complexes and activate cell-signaling ... -
Deep palmar phenotyping in atopic eczema: patterns associated with filaggrin variants, disease severity and barrier function in a South Asian population
Thomas, BR; Tan, XL; Van Duijvenboden, S; Hogan, SC; Hughes, AJ; Tawfik, SS; Dhoat, S; Atkar, R; Robinson, EJ; Rahman, SR (2023) -
Dermatology Quality of Life Index scores in Bangladeshi patients with atopic eczema and their families in East London
Tawfik, SS; Thomas, BR; Kelsell, DP; Grigg, J; O'Toole, EA (2023) -
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 (2018-12) -
Identification and characterization of DSPIa, a novel isoform of human desmoplakin
Cabral, RM; Wan, H; Cole, CL; Abrams, DJ; Kelsell, DP; South, AP (2010-07) -
Intermediate filament-membrane attachments function synergistically with actin-dependent contacts to regulate intercellular adhesive strength
Huen, AC; Park, JK; Godsel, LM; Chen, XJ; Bannon, LJ; Amargo, FV; Hudson, TY; Mongiu, AK; Leigh, IM; Kelsell, DP (2002-12-23) -
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 (2014-08-01) -
iRHOM2: A Regulator of Palmoplantar Biology, Inflammation, and Viral Susceptibility.
Chao-Chu, J; Murtough, S; Zaman, N; Pennington, DJ; Blaydon, DC; Kelsell, DP (2020-10-17)The palmoplantar epidermis is a specialized area of the skin that undergoes high levels of mechanical stress. The palmoplantar keratinization and esophageal cancer syndrome, tylosis with esophageal cancer, is linked to ... -
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 (2018-01-02)BACKGROUND: Arrhythmogenic cardiomyopathy (AC) is an inherited, frequently underdiagnosed disorder, which can predispose individuals to sudden cardiac death. Rare, recessive forms of AC can be associated with woolly hair ... -
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, FJD; Wilson, NJ; Cole, C; Schwartz, ME; McLean, WHI (2015-03-05) -
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 (2016-08-04) -
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 Saldana, HA (2015-08) -
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 (2016-07)GAPO syndrome is a very rare genetic disorder characterized by growth retardation, alopecia, pseudoanodontia and progressive optic atrophy (GAPO). To date, only 30 cases have been described worldwide. Recently, gene ... -
Noonan syndrome with multiple lentigines and associated craniosynostosis.
McDonald, BS; Pigors, M; Kelsell, DP; O'Toole, EA; Burkitt-Wright, E; Kerr, B; Batta, K (2018-04) -
A novel frameshift MSX1 mutation in a Saudi family with autosomal dominant premolar and third molar agenesis
AlFawaz, S; Plagnol, V; Wong, FSL; Kelsell, DP (2015-07) -
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 (2018-05-15)Small-molecule inhibitors of the Hedgehog (HH) pathway receptor Smoothened (SMO) have been effective in treating some patients with basal cell carcinoma (BCC), where the HH pathway is often activated, but many patients ... -
p63 is a key regulator of iRHOM2 signalling in the keratinocyte stress response
Arcidiacono, P; Webb, CM; Brooke, MA; Zhou, H; Delaney, PJ; Ng, K-E; Blaydon, DC; Tinker, A; Kelsell, DP; Chikh, A (2018-03-09)