Andrew South

TitleAssoc Professor
InstitutionThomas Jefferson University
DepartmentDermatology
Address233 S. 10th Street
Philadelphia PA 19107
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    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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    1. Youssefian L, Niaziorimi F, Saeidian AH, South A, Khosravi-Bachehmir F, Khodavaisy S, Vahidnezhad H, Uitto J. Knock-Down of SDR9C7 Impairs Epidermal Barrier Function. J Invest Dermatol. 2021 Jan 07. PMID: 33422619.
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    2. Knops AM, South A, Rodeck U, Martinez-Outschoorn U, Harshyne LA, Johnson J, Luginbuhl AJ, Curry JM. Cancer-Associated Fibroblast Density, Prognostic Characteristics, and Recurrence in Head and Neck Squamous Cell Carcinoma: A Meta-Analysis. Front Oncol. 2020; 10:565306. PMID: 33330034.
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    3. Fuentes I, Guttmann-Gruber C, Tockner B, Diem A, Klausegger A, Cofré-Araneda G, Figuera O, Hidalgo Y, Morandé P, Palisson F, Rebolledo-Jaramillo B, Yubero MJ, Cho RJ, Rishel HI, Marinkovich MP, Teng JMC, Webster TG, Prisco M, Eraso LH, Piñon Hofbauer J, South AP. Cells from discarded dressings differentiate chronic from acute wounds in patients with Epidermolysis Bullosa. Sci Rep. 2020 09 15; 10(1):15064. PMID: 32934247.
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    4. Has C, South A, Uitto J. Molecular Therapeutics in Development for Epidermolysis Bullosa: Update 2020. Mol Diagn Ther. 2020 Apr 23. PMID: 32328988.
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    5. South AP, den Breems NY, Richa T, Nwagu U, Zhan T, Poojan S, Martinez-Outschoorn U, Johnson JM, Luginbuhl AJ, Curry JM. Mutation signature analysis identifies increased mutation caused by tobacco smoke associated DNA adducts in larynx squamous cell carcinoma compared with oral cavity and oropharynx. Sci Rep. 2019 Dec 17; 9(1):19256. PMID: 31848367.
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    6. Chiang A, Tan CZ, Kuonen F, Hodgkinson LM, Chiang F, Cho RJ, South AP, Tang JY, Chang ALS, Rieger KE, Oro AE, Sarin KY. Genetic Mutations Underlying Phenotypic Plasticity in Basosquamous Carcinoma. J Invest Dermatol. 2019 Jun 15. PMID: 31207229.
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    7. Daniels KE, Luginbuhl AJ, Mardekian SK, Cognetti DM, Curry JM, South AP. Assessment of quality and consistency of monoclonal antibodies for CB1 and CB2 in head and neck squamous cell carcinoma. Head Neck. 2019 Apr 29. PMID: 31037797.
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    8. Atanasova VS, Pourreyron C, Farshchian M, Lawler ME, Brown CA, Watt S, Wright S, Warkala M, Guttmann-Gruber C, Pinon-Hofbauer J, Fuentes I, Prisco M, Rashidghamat E, Has C, Salas-Alanis JC, Palisson F, Hovnanian A, McGrath JA, Mellerio J, Bauer JW, South AP. Identification of rigosertib for the treatment of recessive dystrophic epidermolysis bullosa-associated squamous cell carcinoma. Clin Cancer Res. 2019 Mar 07. PMID: 30846478.
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    9. Atanasova VS, Russell RJ, Webster TG, Cao Q, Agarwal P, Lim YZ, Krishnan S, Fuentes I, Guttmann-Gruber C, McGrath JA, Salas-Alanis JC, Fertala A, South AP. Thrombospondin-1 is a major activator of TGF-beta signaling in recessive dystrophic epidermolysis bullosa fibroblasts. J Invest Dermatol. 2019 Jan 23. PMID: 30684555.
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    10. Jiao X, Li Z, Wang M, Katiyar S, Di Sante G, Farshchian M, South AP, Cocola C, Colombo D, Reinbold R, Zucchi I, Wu K, Tabas I, Spike BT, Pestell RG. Dachshund Depletion Disrupts Mammary Gland Development and Diverts the Composition of the Mammary Gland Progenitor Pool. Stem Cell Reports. 2019 Jan 08; 12(1):135-151. PMID: 30554919.
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    11. Uitto J, Atanasova VS, Jiang Q, South AP. Precision Medicine for Heritable Skin Diseases-The Paradigm of Epidermolysis Bullosa. J Investig Dermatol Symp Proc. 2018 Dec; 19(2):S74-S76. PMID: 30471755.
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    12. Curry JM, Johnson J, Mollaee M, Tassone P, Amin D, Knops A, Whitaker-Menezes D, Mahoney MG, South A, Rodeck U, Zhan T, Harshyne L, Philp N, Luginbuhl A, Cognetti D, Tuluc M, Martinez-Outschoorn U. Metformin Clinical Trial in HPV+ and HPV- Head and Neck Squamous Cell Carcinoma: Impact on Cancer Cell Apoptosis and Immune Infiltrate. Front Oncol. 2018; 8:436. PMID: 30364350.
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    13. Inman GJ, Wang J, Nagano A, Alexandrov LB, Purdie KJ, Taylor RG, Sherwood V, Thomson J, Hogan S, Spender LC, South AP, Stratton M, Chelala C, Harwood CA, Proby CM, Leigh IM. The genomic landscape of cutaneous SCC reveals drivers and a novel azathioprine associated mutational signature. Nat Commun. 2018 Sep 10; 9(1):3667. PMID: 30202019.
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    14. Cho RJ, Alexandrov LB, den Breems NY, Atanasova VS, Farshchian M, Purdom E, Nguyen TN, Coarfa C, Rajapakshe K, Prisco M, Sahu J, Tassone P, Greenawalt EJ, Collisson EA, Wu W, Yao H, Su X, Guttmann-Gruber C, Hofbauer JP, Hashmi R, Fuentes I, Benz SC, Golovato J, Ehli EA, Davis CM, Davies GE, Covington KR, Murrell DF, Salas-Alanis JC, Palisson F, Bruckner AL, Robinson W, Has C, Bruckner-Tuderman L, Titeux M, Jonkman MF, Rashidghamat E, Lwin SM, Mellerio JE, McGrath JA, Bauer JW, Hovnanian A, Tsai KY, South AP. APOBEC mutation drives early-onset squamous cell carcinomas in recessive dystrophic epidermolysis bullosa. Sci Transl Med. 2018 Aug 22; 10(455). PMID: 30135250.
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    15. Purdie KJ, Proby CM, Rizvi H, Griffin H, Doorbar J, Sommerlad M, Feltkamp MC, der Meijden EV, Inman GJ, South AP, Leigh IM, Harwood CA. The Role of Human Papillomaviruses and Polyomaviruses in BRAF-Inhibitor Induced Cutaneous Squamous Cell Carcinoma and Benign Squamoproliferative Lesions. Front Microbiol. 2018; 9:1806. PMID: 30154763.
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    16. Fuentes I, Guttmann-Gruber C, Ling Tay AS, Hofbauer JP, Denil SLIJ, Reichelt J, Palisson F, Common JEA, South AP. Reduced microbial diversity is a feature of recessive dystrophic epidermolysis bullosa involved skin and wounds. J Invest Dermatol. 2018 May 10. PMID: 29753707.
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    17. McHugh A, Fernandes K, South AP, Mellerio JE, Salas-Alanís JC, Proby CM, Leigh IM, Saville MK. Preclinical comparison of proteasome and ubiquitin E1 enzyme inhibitors in cutaneous squamous cell carcinoma: the identification of mechanisms of differential sensitivity. Oncotarget. 2018 Apr 17; 9(29):20265-20281. PMID: 29755650.
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    18. Sun Y, Woess K, Kienzl M, Leb-Reichl VM, Feinle A, Wimmer M, Zauner R, Wally V, Luetz-Meindl U, Mellerio JE, Fuentes I, South AP, Bauer JW, Reichelt J, Furihata T, Guttmann-Gruber C, Piñón Hofbauer J. Extracellular Vesicles as Biomarkers for the Detection of a Tumor Marker Gene in Epidermolysis Bullosa-Associated Squamous Cell Carcinoma. J Invest Dermatol. 2017 Dec 02. PMID: 29203361.
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    19. Alexeev V, Salas-Alanis JC, Palisson F, Mukhtarzada L, Fortuna G, Uitto J, South A, Igoucheva O. Pro-Inflammatory Chemokines and Cytokines Dominate the Blister Fluid Molecular Signature in Patients with Epidermolysis Bullosa and Affect Leukocyte and Stem Cell Migration. J Invest Dermatol. 2017 Nov; 137(11):2298-2308. PMID: 28736230.
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    20. Meester I, Igoucheva O, Alexeev V, South A, Moreno-Treviño MG, Salas-Alanis JC. High concordance between clinical diagnosis of epidermolysis bullosa and immunofluorescence with a small, well-matched antibody panel. Australas J Dermatol. 2017 Jul 13. PMID: 28707324.
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    21. Atanasova VS, Jiang Q, Prisco M, Gruber C, Piñón Hofbauer J, Chen M, Has C, Bruckner-Tuderman L, McGrath JA, Uitto J, South AP. Amlexanox enhances premature termination codon read-through in COL7A1 and expression of full length type VII collagen: potential therapy for recessive dystrophic epidermolysis bullosa. J Invest Dermatol. 2017 May 23. PMID: 28549954.
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    22. Overmiller AM, Pierluissi JA, Wermuth PJ, Sauma S, Martinez-Outschoorn U, Tuluc M, Luginbuhl A, Curry J, Harshyne LA, Wahl JK, South AP, Mahoney MG. Desmoglein 2 modulates extracellular vesicle release from squamous cell carcinoma keratinocytes. FASEB J. 2017 Apr 24. PMID: 28438789.
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    23. Faden DL, Arron ST, Heaton CM, DeRisi J, South AP, Wang SJ. Targeted next-generation sequencing of TP53 in oral tongue carcinoma from non-smokers. J Otolaryngol Head Neck Surg. 2016 Sep 17; 45(1):47. PMID: 27640185; PMCID: PMC5027093.
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    24. Cammareri P, Rose AM, Vincent DF, Wang J, Nagano A, Libertini S, Ridgway RA, Athineos D, Coates PJ, McHugh A, Pourreyron C, Dayal JH, Larsson J, Weidlich S, Spender LC, Sapkota GP, Purdie KJ, Proby CM, Harwood CA, Leigh IM, Clevers H, Barker N, Karlsson S, Pritchard C, Marais R, Chelala C, South AP, Sansom OJ, Inman GJ. Inactivation of TGFß receptors in stem cells drives cutaneous squamous cell carcinoma. Nat Commun. 2016 Aug 25; 7:12493. PMID: 27558455.
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    25. Watt SA, Purdie KJ, den Breems NY, Dimon M, Tucker S, Arron ST, McHugh A, Xue DJ, Dayal JH, Harwood CA, Leigh IM, Proby CM, South AP. CREBBP mutation in human cutaneous squamous cell carcinoma. Exp Dermatol. 2016 08; 25(8):650-1. PMID: 27094574.
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    26. Adelmann CH, Truong KA, Liang RJ, Bansal V, Gandee L, Saporito RC, Lee W, Du L, Nicholas C, Napoli M, Mino B, South AP, Proby CM, Leigh IM, Coarfa C, Flores ER, Tsai KY. MEK Is a Therapeutic and Chemopreventative Target in Squamous Cell Carcinoma. J Invest Dermatol. 2016 Sep; 136(9):1920-4. PMID: 27293029.
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    27. South AP, Uitto J. Type VII Collagen Replacement Therapy in Recessive Dystrophic Epidermolysis Bullosa-How Much, How Often? J Invest Dermatol. 2016 Jun; 136(6):1079-81. PMID: 27212645.
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    28. Languino LR, Singh A, Prisco M, Inman GJ, Luginbuhl A, Curry JM, South AP. Exosome-mediated transfer from the tumor microenvironment increases TGFß signaling in squamous cell carcinoma. Am J Transl Res. 2016; 8(5):2432-7. PMID: 27347352.
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    29. Uitto J, Bruckner-Tuderman L, Christiano AM, McGrath JA, Has C, South AP, Kopelan B, Robinson EC. Progress toward Treatment and Cure of Epidermolysis Bullosa: Summary of the DEBRA International Research Symposium EB2015. J Invest Dermatol. 2016 Feb; 136(2):352-8. PMID: 26802230.
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    30. Sinkey RG, Habli MA, South AP, Gibler WW, Burns PW, Eschenbacher MA, Warshak CR. Sonographic markers associated with adverse neonatal outcomes among fetuses with gastroschisis: an 11-year, single-center review. Am J Obstet Gynecol. 2016 Feb; 214(2):275.e1-275.e7. PMID: 26454131.
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    31. Watt SA, Dayal JH, Wright S, Riddle M, Pourreyron C, McMillan JR, Kimble RM, Prisco M, Gartner U, Warbrick E, McLean WH, Leigh IM, McGrath JA, Salas-Alanis JC, Tolar J, South AP. Lysyl Hydroxylase 3 Localizes to Epidermal Basement Membrane and Is Reduced in Patients with Recessive Dystrophic Epidermolysis Bullosa. PLoS One. 2015; 10(9):e0137639. PMID: 26380979; PMCID: PMC4575209.
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    32. Watt SA, Purdie KJ, den Breems NY, Dimon M, Arron ST, McHugh AT, Xue DJ, Dayal JH, Proby CM, Harwood CA, Leigh IM, South AP. Novel CARD11 Mutations in Human Cutaneous Squamous Cell Carcinoma Lead to Aberrant NF-?B Regulation. Am J Pathol. 2015 Sep; 185(9):2354-63. PMID: 26212909.
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    33. South AP, Li Q, Uitto J. Next-generation sequencing for mutation detection in heritable skin diseases: the paradigm of pseudoxanthoma elasticum. J Invest Dermatol. 2015 Apr; 135(4):937-40. PMID: 25785945.
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    34. Hoste E, Arwert EN, Lal R, South AP, Salas-Alanis JC, Murrell DF, Donati G, Watt FM. Innate sensing of microbial products promotes wound-induced skin cancer. Nat Commun. 2015 Jan 09; 6:5932. PMID: 25575023.
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    35. Petrof G, Nanda A, Howden J, Takeichi T, McMillan JR, Aristodemou S, Ozoemena L, Liu L, South AP, Pourreyron C, Dafou D, Proudfoot LE, Al-Ajmi H, Akiyama M, McLean WH, Simpson MA, Parsons M, McGrath JA. Mutations in GRHL2 result in an autosomal-recessive ectodermal Dysplasia syndrome. Am J Hum Genet. 2014 Sep 4; 95(3):308-14. PMID: 25152456.
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    36. Cogan J, Weinstein J, Wang X, Hou Y, Martin S, South AP, Woodley DT, Chen M. Aminoglycosides restore full-length type VII collagen by overcoming premature termination codons: therapeutic implications for dystrophic epidermolysis bullosa. Mol Ther. 2014 Oct; 22(10):1741-52. PMID: 25155989.
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    37. Lim YZ, South AP. Tumour-stroma crosstalk in the development of squamous cell carcinoma. Int J Biochem Cell Biol. 2014 Aug; 53:450-8. PMID: 24955488.
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    38. Garza-Gómez J, Cerda-Flores RM, Gómez-Flores M, Salas-Alanís JC, Ocampo-Candiani J, Martínez-Garza LE, South AP, Gallardo-Blanco HL. An investigation into the MMP1 gene promoter region polymorphism--1607 2G with recessive dystrophic epidermolysis bullosa disease severity in northeastern Mexican patients. Int J Dermatol. 2014 Aug; 53(8):985-90. PMID: 24899116.
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    39. South AP, Purdie KJ, Watt SA, Haldenby S, den Breems NY, Dimon M, Arron ST, Kluk MJ, Aster JC, McHugh A, Xue DJ, Dayal JH, Robinson KS, Rizvi SM, Proby CM, Harwood CA, Leigh IM. NOTCH1 mutations occur early during cutaneous squamous cell carcinogenesis. J Invest Dermatol. 2014 Oct; 134(10):2630-8. PMID: 24662767.
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    40. Ng YZ, South AP. Tissue engineering of tumor stromal microenvironment with application to cancer cell invasion. J Vis Exp. 2014 Mar 18; (85). PMID: 24686341; PMCID: PMC4153332.
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    41. Dayal JH, Cole CL, Pourreyron C, Watt SA, Lim YZ, Salas-Alanis JC, Murrell DF, McGrath JA, Stieger B, Jahoda C, Leigh IM, South AP. Type VII collagen regulates expression of OATP1B3, promotes front-to-rear polarity and increases structural organisation in 3D spheroid cultures of RDEB tumour keratinocytes. J Cell Sci. 2014 Feb 15; 127(Pt 4):740-51. PMID: 24357722.
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    42. Michael M, Begum R, Fong K, Pourreyron C, Pourreyrone C, South AP, McGrath JA, Parsons M. BPAG1-e restricts keratinocyte migration through control of adhesion stability. J Invest Dermatol. 2014 Mar; 134(3):773-82. PMID: 24025550.
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    43. Gruber C, Koller U, Murauer EM, Hainzl S, Hüttner C, Kocher T, South AP, Hintner H, Bauer JW. The design and optimization of RNA trans-splicing molecules for skin cancer therapy. Mol Oncol. 2013 Dec; 7(6):1056-68. PMID: 23998959.
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    44. 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. Mutations in AQP5, encoding a water-channel protein, cause autosomal-dominant diffuse nonepidermolytic palmoplantar keratoderma. Am J Hum Genet. 2013 Aug 8; 93(2):330-5. PMID: 23830519.
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    45. Kluk MJ, Ashworth T, Wang H, Knoechel B, Mason EF, Morgan EA, Dorfman D, Pinkus G, Weigert O, Hornick JL, Chirieac LR, Hirsch M, Oh DJ, South AP, Leigh IM, Pourreyron C, Cassidy AJ, Deangelo DJ, Weinstock DM, Krop IE, Dillon D, Brock JE, Lazar AJ, Peto M, Cho RJ, Stoeck A, Haines BB, Sathayanrayanan S, Rodig S, Aster JC. Gauging NOTCH1 Activation in Cancer Using Immunohistochemistry. PLoS One. 2013; 8(6):e67306. PMID: 23825651.
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    46. McGrath JA, Stone KL, Begum R, Simpson MA, Dopping-Hepenstal PJ, Liu L, McMillan JR, South AP, Pourreyron C, McLean WH, Martinez AE, Mellerio JE, Parsons M. Germline Mutation in EXPH5 Implicates the Rab27B Effector Protein Slac2-b in Inherited Skin Fragility. Am J Hum Genet. 2012 Dec 7; 91(6):1115-21. PMID: 23176819.
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    47. Ng YZ, Pourreyron C, Salas-Alanis JC, Dayal JH, Cepeda-Valdes R, Yan W, Wright S, Chen M, Fine JD, Hogg FJ, McGrath JA, Murrell DF, Leigh IM, Lane EB, South AP. Fibroblast-derived dermal matrix drives development of aggressive cutaneous squamous cell carcinoma in patients with recessive dystrophic epidermolysis bullosa. Cancer Res. 2012 Jul 15; 72(14):3522-34. PMID: 22564523.
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    48. Pourreyron C, Reilly L, Proby C, Panteleyev A, Fleming C, McLean K, South AP, Foerster J. Wnt5a is strongly expressed at the leading edge in non-melanoma skin cancer, forming active gradients, while canonical Wnt signalling is repressed. PLoS One. 2012; 7(2):e31827. PMID: 22384081; PMCID: PMC3285195.
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    49. Pourreyron C, Purdie KJ, Watt SA, South AP. Feeder layers: co-culture with nonneoplastic cells. Methods Mol Biol. 2011; 731:467-70. PMID: 21516429.
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    50. Purdie KJ, Pourreyron C, South AP. Isolation and culture of squamous cell carcinoma lines. Methods Mol Biol. 2011; 731:151-9. PMID: 21516406.
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    51. Purdie KJ, Pourreyron C, Fassihi H, Cepeda-Valdes R, Frew JW, Volz A, Weissenborn SJ, Pfister H, Proby CM, Bruckner-Tuderman L, Murrell DF, Salas-Alanis JC, McGrath JA, Leigh IM, Harwood CA, South AP. No evidence that human papillomavirus is responsible for the aggressive nature of recessive dystrophic epidermolysis bullosa-associated squamous cell carcinoma. J Invest Dermatol. 2010 Dec; 130(12):2853-5. PMID: 20739945.
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    52. Cabral RM, Wan H, Cole CL, Abrams DJ, Kelsell DP, South AP. Identification and characterization of DSPIa, a novel isoform of human desmoplakin. Cell Tissue Res. 2010 Jul; 341(1):121-9. PMID: 20524011.
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    53. Tanaka A, Lai-Cheong JE, van den Akker PC, Nagy N, Millington G, Diercks GF, van Voorst Vader PC, Clements SE, Almaani N, Techanukul T, Hide M, South AP, McGrath JA. The molecular skin pathology of familial primary localized cutaneous amyloidosis. Exp Dermatol. 2010 May; 19(5):416-23. PMID: 20507362.
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    54. Cabral RM, Liu L, Hogan C, Dopping-Hepenstal PJ, Winik BC, Asial RA, Dobson R, Mein CA, Baselaga PA, Mellerio JE, Nanda A, Boente Mdel C, Kelsell DP, McGrath JA, South AP. Homozygous mutations in the 5' region of the JUP gene result in cutaneous disease but normal heart development in children. J Invest Dermatol. 2010 Jun; 130(6):1543-50. PMID: 20130592.
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    55. South AP, O'Toole EA. Understanding the pathogenesis of recessive dystrophic epidermolysis bullosa squamous cell carcinoma. Dermatol Clin. 2010 Jan; 28(1):171-8. PMID: 19945632.
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    56. Lai-Cheong JE, Parsons M, Tanaka A, Ussar S, South AP, Gomathy S, Mee JB, Barbaroux JB, Techanukul T, Almaani N, Clements SE, Hart IR, McGrath JA. Loss-of-function FERMT1 mutations in kindler syndrome implicate a role for fermitin family homolog-1 in integrin activation. Am J Pathol. 2009 Oct; 175(4):1431-41. PMID: 19762710.
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    57. Martins VL, Vyas JJ, Chen M, Purdie K, Mein CA, South AP, Storey A, McGrath JA, O'Toole EA. Increased invasive behaviour in cutaneous squamous cell carcinoma with loss of basement-membrane type VII collagen. J Cell Sci. 2009 Jun 1; 122(Pt 11):1788-99. PMID: 19435799.
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    58. Arita K, South AP, Hans-Filho G, Sakuma TH, Lai-Cheong J, Clements S, Odashiro M, Odashiro DN, Hans-Neto G, Hans NR, Holder MV, Bhogal BS, Hartshorne ST, Akiyama M, Shimizu H, McGrath JA. Oncostatin M receptor-beta mutations underlie familial primary localized cutaneous amyloidosis. Am J Hum Genet. 2008 Jan; 82(1):73-80. PMID: 18179886.
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    59. Pourreyron C, Cox G, Mao X, Volz A, Baksh N, Wong T, Fassihi H, Arita K, O'Toole EA, Ocampo-Candiani J, Chen M, Hart IR, Bruckner-Tuderman L, Salas-Alanis JC, McGrath JA, Leigh IM, South AP. Patients with recessive dystrophic epidermolysis bullosa develop squamous-cell carcinoma regardless of type VII collagen expression. J Invest Dermatol. 2007 Oct; 127(10):2438-44. PMID: 17495952.
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    60. Wan H, South AP, Hart IR. Increased keratinocyte proliferation initiated through downregulation of desmoplakin by RNA interference. Exp Cell Res. 2007 Jul 01; 313(11):2336-44. PMID: 17475244.
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    61. Chan I, South AP, McGrath JA, Oyama N, Bhogal BS, Black MM, Hamada T. Rapid diagnosis of lipoid proteinosis using an anti-extracellular matrix protein 1 (ECM1) antibody. J Dermatol Sci. 2004 Aug; 35(2):151-3. PMID: 15265527.
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    62. Oyama N, Chan I, Neill SM, South AP, Wojnarowska F, Kawakami Y, D'Cruz D, Mepani K, Hughes GJ, Bhogal BS, Kaneko F, Black MM, McGrath JA. Development of antigen-specific ELISA for circulating autoantibodies to extracellular matrix protein 1 in lichen sclerosus. J Clin Invest. 2004 Jun; 113(11):1550-9. PMID: 15173881.
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    63. Mallipeddi R, Wessagowit V, South AP, Robson AM, Orchard GE, Eady RA, McGrath JA. Reduced expression of insulin-like growth factor-binding protein-3 (IGFBP-3) in Squamous cell carcinoma complicating recessive dystrophic epidermolysis bullosa. J Invest Dermatol. 2004 May; 122(5):1302-9. PMID: 15140235.
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    64. Ashton GH, McLean WH, South AP, Oyama N, Smith FJ, Al-Suwaid R, Al-Ismaily A, Atherton DJ, Harwood CA, Leigh IM, Moss C, Didona B, Zambruno G, Patrizi A, Eady RA, McGrath JA. Recurrent mutations in kindlin-1, a novel keratinocyte focal contact protein, in the autosomal recessive skin fragility and photosensitivity disorder, Kindler syndrome. J Invest Dermatol. 2004 Jan; 122(1):78-83. PMID: 14962093.
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    65. Oyama N, Chan I, Neill SM, Hamada T, South AP, Wessagowit V, Wojnarowska F, D'Cruz D, Hughes GJ, Black MM, McGrath JA. Autoantibodies to extracellular matrix protein 1 in lichen sclerosus. Lancet. 2003 Jul 12; 362(9378):118-23. PMID: 12867112.
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    66. South AP, Wan H, Stone MG, Dopping-Hepenstal PJ, Purkis PE, Marshall JF, Leigh IM, Eady RA, Hart IR, McGrath JA. Lack of plakophilin 1 increases keratinocyte migration and reduces desmosome stability. J Cell Sci. 2003 Aug 15; 116(Pt 16):3303-14. PMID: 12840072.
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    67. McMillan JR, Haftek M, Akiyama M, South AP, Perrot H, McGrath JA, Eady RA, Shimizu H. Alterations in desmosome size and number coincide with the loss of keratinocyte cohesion in skin with homozygous and heterozygous defects in the desmosomal protein plakophilin 1. J Invest Dermatol. 2003 Jul; 121(1):96-103. PMID: 12839569.
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    68. Siegel DH, Ashton GH, Penagos HG, Lee JV, Feiler HS, Wilhelmsen KC, South AP, Smith FJ, Prescott AR, Wessagowit V, Oyama N, Akiyama M, Al Aboud D, Al Aboud K, Al Githami A, Al Hawsawi K, Al Ismaily A, Al-Suwaid R, Atherton DJ, Caputo R, Fine JD, Frieden IJ, Fuchs E, Haber RM, Harada T, Kitajima Y, Mallory SB, Ogawa H, Sahin S, Shimizu H, Suga Y, Tadini G, Tsuchiya K, Wiebe CB, Wojnarowska F, Zaghloul AB, Hamada T, Mallipeddi R, Eady RA, McLean WH, McGrath JA, Epstein EH. Loss of kindlin-1, a human homolog of the Caenorhabditis elegans actin-extracellular-matrix linker protein UNC-112, causes Kindler syndrome. Am J Hum Genet. 2003 Jul; 73(1):174-87. PMID: 12789646.
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    69. Hamada T, Wessagowit V, South AP, Ashton GH, Chan I, Oyama N, Siriwattana A, Jewhasuchin P, Charuwichitratana S, Thappa DM, Jeevankumar B, Lenane P, Krafchik B, Kulthanan K, Shimizu H, Kaya TI, Erdal ME, Paradisi M, Paller AS, Seishima M, Hashimoto T, McGrath JA. Extracellular matrix protein 1 gene (ECM1) mutations in lipoid proteinosis and genotype-phenotype correlation. J Invest Dermatol. 2003 Mar; 120(3):345-50. PMID: 12603844.
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    70. Ashton GH, McGrath JA, South AP. Strategies to identify disease genes. Drugs Today (Barc). 2002 Apr; 38(4):235-44. PMID: 12532192.
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    71. Hamada T, McLean WH, Ramsay M, Ashton GH, Nanda A, Jenkins T, Edelstein I, South AP, Bleck O, Wessagowit V, Mallipeddi R, Orchard GE, Wan H, Dopping-Hepenstal PJ, Mellerio JE, Whittock NV, Munro CS, van Steensel MA, Steijlen PM, Ni J, Zhang L, Hashimoto T, Eady RA, McGrath JA. Lipoid proteinosis maps to 1q21 and is caused by mutations in the extracellular matrix protein 1 gene (ECM1). Hum Mol Genet. 2002 Apr 1; 11(7):833-40. PMID: 11929856.
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