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Dr. Joey Lai-Cheong

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  1. Structure and function of skin, hair and nails

    Lai-Cheong, J. E. & McGrath, J. A., 5 May 2017, In: Medicine.

    Research output: Contribution to journal › Article › peer-review

  2. Kindlin-1 controls Wnt and TGF-beta availability to regulate cutaneous stem cell proliferation

    Rognoni, E., Widmaier, M., Jakobson, M., Ruppert, R., Ussar, S., Katsougkri, D., Böttcher, R. T., Lai-Cheong, J. E., Rifkin, D. B., McGrath, J. A. & Fässler, R., Apr 2014, In: Nature Medicine. 20, 4, p. 350-359 13 p.

    Research output: Contribution to journal › Article › peer-review

  3. Structure and function of skin, hair and nails

    Lai-cheong, J. E. & Mcgrath, J. A., 1 Jun 2013, In: Medicine (Abingdon. 1995, UK ed. Print). 41, 6, p. 317-320 4 p.

    Research output: Contribution to journal › Article › peer-review

  4. Case of Kindler syndrome resulting from mutation in the FERMT1 gene

    Wada, M., Masuda, K., Tsuruta, D., Tamai, K., Lai-Cheong, J. E., McGrath, J. A. & Katoh, N., Dec 2012, In: The Australasian journal of dermatology. 39, 12, p. 1057-1058 2 p., N/A.

    Research output: Contribution to journal › Letter › peer-review

  5. Infantile systemic hyalinosis associated with a putative splice-site mutation in the ANTXR2 gene

    Fong, K., Devi, A. R. R., Lai-Cheong, J. E., Chirla, D., Panda, S. K., Liu, L., Tosi, I. & McGrath, J. A., Aug 2012, In: Clinical and Experimental Dermatology. 37, 6, p. 635-638 4 p.

    Research output: Contribution to journal › Article › peer-review

  6. MBTPS2 mutation in a British pedigree with keratosis follicularis spinulosa decalvans

    Fong, K., Wedgeworth, E. K., Lai-Cheong, J. E., Tosi, I., Mellerio, J. E., Powell, A. M. & McGrath, J. A., Aug 2012, In: Clinical and Experimental Dermatology. 37, 6, p. 631-634 4 p.

    Research output: Contribution to journal › Article › peer-review

  7. Recurrent heterozygous missense mutation, p.Gly573Ser, in the TRPV3 gene in an Indian boy with sporadic Olmsted syndrome

    Lai-Cheong, J. E., Sethuraman, G., Ramam, M., Stone, K., Simpson, M. A. & McGrath, J. A., Aug 2012, In: British Journal of Dermatology. 167, 2, p. 440-442 3 p., N/A.

    Research output: Contribution to journal › Article › peer-review

  8. Mutations in AEC syndrome skin reveal a role for p63 in basement membrane adhesion, skin barrier integrity and hair follicle biology

    Clements, S. E., Techanukul, T., Lai-Cheong, J. E., Mee, J. B., South, A. P., Pourreyron, C., Burrows, N. P., Mellerio, J. E. & McGrath, J. A., Jul 2012, In: British Journal of Dermatology. 167, 1, p. 134-144 11 p., N/A.

    Research output: Contribution to journal › Article › peer-review

  9. Germ line Mutation in ATR in Autosomal-Dominant Oropharyngeal Cancer Syndrome

    Tanaka, A., Weinel, S., Nagy, N., O'Driscoll, M., Lai-Cheong, J. E., Kulp-Shorten, C. L., Knable, A., Carpenter, G., Fisher, S. A., Hiragun, M., Yanase, Y., Hide, M., Callen, J. & McGrath, J. A., 9 Mar 2012, In: American Journal of Human Genetics. 90, 3, p. 511 - 517 7 p.

    Research output: Contribution to journal › Article › peer-review

  10. Autosomal Recessive Epidermolysis Bullosa Simplex Due to Loss of BPAG1-e Expression

    Liu, L., Dopping-Hepenstal, P. J., Lovell, P. A., Michael, M., Horn, H., Fong, K., Lai-Cheong, J. E., Mellerio, J. E., Parsons, M. & McGrath, J. A., Mar 2012, In: Journal of Investigative Dermatology. 132, 3, p. 742 - 744 3 p.

    Research output: Contribution to journal › Letter › peer-review

  11. Revertant Mosaicism in Kindler Syndrome

    Lai-Cheong, J. E., Moss, C., Parsons, M., Almaani, N. & McGrath, J. A., Mar 2012, In: Journal of Investigative Dermatology. 132, 3, p. 730 - 732 3 p.

    Research output: Contribution to journal › Letter › peer-review

  12. Germline mutation in ATR underlying a new autosomal dominant oropharyngeal cancer syndrome

    Tanaka, A., Weinel, S., Nagy, N., O'Driscoll, M., Lai-Cheong, J. E., Kulp-Shorten, C. L., Knable, A., Hide, M., Callen, J. & McGrath, J. A., 2012, In: Journal of Investigative Dermatology. 132, p. S69 - S69

    Research output: Contribution to journal › Meeting abstract

  13. Molecular analysis of circumscribed scalp leucotrichia in an infant born to a mother with oculocutaneous albinism type 1

    Penny, H., Lai-Cheong, J. E., Fong, K., Tosi, I., Sharma, A., Gach, J. & McGrath, J., 2012, In: British Journal of Dermatology. 166, 1, p. E2 - E3

    Research output: Contribution to journal › Meeting abstract

  14. Recurrent pathogenic mutation, p.Gln252Leu, in the CTSC gene in a 10-year-old Somali boy with Papillon-Lefevre syndrome

    Penny, H., Tosi, I., Kennedy, C., McGrath, J. & Lai-Cheong, J. E., 2012, In: British Journal of Dermatology. 166, 1, p. E3 - E3

    Research output: Contribution to journal › Meeting abstract

  15. Next-generation diagnostics for inherited skin disorders

    Lai-Cheong, J. E. & McGrath, J. A., Oct 2011, In: Journal of Investigative Dermatology. 131, 10, p. 1971-1973 3 p., N/A.

    Research output: Contribution to journal › Comment/debate › peer-review

  16. HB-EGF Induces COL7A1 Expression in Keratinocytes and Fibroblasts: Possible Mechanism Underlying Allogeneic Fibroblast Therapy in Recessive Dystrophic Epidermolysis Bullosa

    Nagy, N., Almaani, N., Tanaka, A., Lai-Cheong, J. E., Techanukul, T., Mellerio, J. E. & McGrath, J. A., Aug 2011, In: Journal of Investigative Dermatology. 131, 8, p. 1771 - 1774 4 p.

    Research output: Contribution to journal › Letter › peer-review

  17. Schopf-Schulz-Passarge syndrome resulting from a homozygous nonsense mutation, p.Cys107X, in WNT10A

    Petrof, G., Fong, K., Lai-Cheong, J. E., Cockayne, S. E. & McGrath, J. A., Aug 2011, In: Australasian Journal of Dermatology. 52, 3, p. 224 - 226 3 p.

    Research output: Contribution to journal › Article › peer-review

  18. New homozygous SPINK5 mutation, p.Gln333X, in a Turkish pedigree with Netherton syndrome

    Fong, K., Akdeniz, S., Isi, H., Taskesen, M., McGrath, J. A. & Lai-Cheong, J. E., Jun 2011, In: Clinical and Experimental Dermatology. 36, 4, p. 412 - 415 4 p.

    Research output: Contribution to journal › Article › peer-review

  19. cis-Urocanic Acid Enhances Prostaglandin E-2 Release and Apoptotic Cell Death via Reactive Oxygen Species in Human Keratinocytes

    Kaneko, K., Walker, S. L., Lai-Cheong, J., Matsui, M. S., Norval, M. & Young, A. R., Jun 2011, In: Journal of Investigative Dermatology. 131, 6, p. 1262 - 1271 10 p.

    Research output: Contribution to journal › Article › peer-review

  20. Identical Glycine Substitution Mutations in Type VII Collagen May Underlie Both Dominant and Recessive Forms of Dystrophic Epidermolysis Bullosa

    Almaani, N., Liu, L., Dopping-Hepenstal, P. J. C., Lai-Cheong, J. E., Wong, A., Nanda, A., Moss, C., Martinez, A. E., Mellerio, J. E. & McGrath, J. A., May 2011, In: Acta Dermato-Venereologica. 91, 3, p. 262 - 266 5 p.

    Research output: Contribution to journal › Article › peer-review

  21. Novel and Recurrent FERMT1 Gene Mutations in Kindler Syndrome

    Techanukul, T., Sethuraman, G., Zlotogorski, A., Horev, L., Macarov, M., Trainer, A., Fong, K., Lens, M., Medenica, L., Ramesh, V., McGrath, J. A. & Lai-Cheong, J. E., May 2011, In: Acta Dermato-Venereologica. 91, 3, p. 267 - 270 4 p.

    Research output: Contribution to journal › Article › peer-review

  22. What is Kindler syndrome?

    Lai-Cheong, J. E. & McGrath, J. A., May 2011, In: Skinmed. 9, 3, p. 145-146 2 p., N/A.

    Research output: Contribution to journal › Comment/debate › peer-review

  23. Revertant mosaicism in skin: natural gene therapy

    Lai-Cheong, J. E., McGrath, J. A. & Uitto, J., Mar 2011, In: TRENDS IN MOLECULAR MEDICINE. 17, 3, p. 140 - 148 9 p.

    Research output: Contribution to journal › Literature review › peer-review

  24. Establishing the role of BPAG1-e in hemidesmosomal integrity and keratinocyte cell biology

    Michael, M., Fong, K., Lai-Cheong, J. E., Dopping-Hepenstal, P. J., Liu, L., Groves, R. W., Mellerio, J. E., Parsons, M. & McGrath, J. A., 2011, In: British Journal of Dermatology. 164, 4, p. 913 - 913 1 p.

    Research output: Contribution to journal › Meeting abstract

  25. MBTPS2 mutation in a family with keratosis follicularis spinulosa decalvans

    Wedgeworth, E., Fong, K., Lai-Cheong, J., Mellerio, J. E., McGrath, J. A. & Powell, A. -M., 2011, In: British Journal of Dermatology. 165, p. 119 - 119 1 p.

    Research output: Contribution to journal › Meeting abstract

  26. New and recurrent FERMT1 mutations in Kindler syndrome

    Fong, K., Salphale, P., de Almeida, H., McBride, S., Tsuruta, D., McGrath, J. A. & Lai-Cheong, J. E., 2011, In: British Journal of Dermatology. 164, 4, p. 932 - 932 1 p.

    Research output: Contribution to journal › Meeting abstract

  27. Potential role of thrombospondin-1 in epidermal atrophy in Kindler syndrome skin

    Begum, R., Lai-Cheong, J., Parsons, M. & McGrath, J., 2011, In: Journal of Investigative Dermatology. 131, p. S58 - S58

    Research output: Contribution to journal › Meeting abstract

  28. Reduced expression of several actin-associated focal adhesion proteins in Kindler syndrome keratinocytes harbouring FERMT1 mutations

    Begum, R., Lai-Cheong, J. E., Parsons, M. & McGrath, J. A., 2011, In: British Journal of Dermatology. 164, 4, p. 927 - 928 2 p.

    Research output: Contribution to journal › Meeting abstract

  29. Schopf-Schulz-Passarge syndrome resulting from a recurrent homozygous nonsense mutation, p.Cys107X, in WNT10A

    Petrof, G., Fong, K., Lai-Cheong, J. E., Cockayne, S. E. & McGrath, J. A., 2011, In: British Journal of Dermatology. 164, 4, p. 931 - 931 1 p.

    Research output: Contribution to journal › Meeting abstract

  30. Images in clinical medicine. Tinea

    Lai-Cheong, J. & McGrath, J., 23 Dec 2010, In: New England Journal of Medicine. 363, 26, p. e39-e39 1 p., N/A.

    Research output: Contribution to journal › Article › peer-review

  31. Revertant Mosaicism in Recessive Dystrophic Epidermolysis Bullosa

    Almaani, N., Nagy, N., Liu, L., Dopping-Hepenstal, P. J. C., Lai-Cheong, J. E., Clements, S. E., Techanukul, T., Tanaka, A., Mellerio, J. E. & McGrath, J. A., Jul 2010, In: Journal of Investigative Dermatology. 130, 7, p. 1937 - 1940 4 p.

    Research output: Contribution to journal › Letter › peer-review

  32. Somatic Mitochondrial DNA Deletions Accumulate to High Levels in Aging Human Extraocular Muscles

    Yu-Wai-Man, P., Lai-Cheong, J., Borthwick, G. M., He, L., Taylor, G. A., Greaves, L. C., Taylor, R. W., Griffiths, P. G. & Turnbull, D. M., Jul 2010, In: Investigative Ophthalmology & Visual Science. 51, 7, p. 3347 - 3353 7 p.

    Research output: Contribution to journal › Article › peer-review

  33. Spectrum of mutations in the ANTXR2 (CMG2) gene in infantile systemic hyalinosis and juvenile hyaline fibromatosis

    El-Kamah, G. Y., Fong, K., El-Ruby, M., Affifi, H. H., Clements, S. E., Lai-Cheong, J. E., Amr, K., El-Darouti, M. & McGrath, J. A., Jul 2010, In: British Journal of Dermatology. 163, 1, p. 213 - 215 3 p.

    Research output: Contribution to journal › Letter › peer-review

  34. The molecular skin pathology of familial primary localized cutaneous amyloidosis

    Tanaka, A., Lai-Cheong, J. E., van den Akker, P. C., Nagy, N., Millington, G., Diercks, G. F. H., Vader, P. C. V. V., Clements, S. E., Almaani, N., Techanukul, T., Hide, M., South, A. P. & McGrath, J. A., May 2010, In: Experimental Dermatology. 19, 5, p. 416 - 423 8 p.

    Research output: Contribution to journal › Article › peer-review

  35. The role of kindlins in cell biology and relevance to human disease

    Lai-Cheong, J. E., Parsons, M. & McGrath, J. A., May 2010, In: International Journal of Biochemistry and Cell Biology. 42, 5, p. 595 - 603 9 p.

    Research output: Contribution to journal › Literature review › peer-review

  36. Kindler Syndrome

    Lai-Cheong, J. E. & McGrath, J. A., Jan 2010, In: Dermatologic clinics. 28, 1, p. 119 - + 6 p.

    Research output: Contribution to journal › Article › peer-review

  37. Novel IL31RA gene mutation and ancestral OSMR mutant allele in familial primary cutaneous amyloidosis

    Lin, M-W., Lee, D-D., Liu, T-T., Lin, Y-F., Chen, S-Y., Huang, C-C., Weng, H-Y., Liu, Y-F., Tanaka, A., Arita, K., Lai-Cheong, J., Palisson, F., Chang, Y-T., Wong, C-K., Matsuura, I., McGrath, J. A. & Tsai, S-F., Jan 2010, In: European Journal of Human Genetics. 18, 1, p. 26 - 32 7 p.

    Research output: Contribution to journal › Article › peer-review

  38. Revertant mosaicism in Kindler syndrome resulting from FERMT1 transcriptional gene correction

    Lai-Cheong, J., Techanukul, T., Parsons, M., Moss, C. & McGrath, J. A., 2010, In: British Journal of Dermatology. 163, p. 3 - 4 2 p.

    Research output: Contribution to journal › Meeting abstract

  39. Revertant mosaicism in Kindler syndrome resulting from transcriptional correction of the FERMT1 gene

    Lai-Cheong, J. E., Techanukul, T., Parsons, M., Moss, C. & McGrath, J. A., 2010, In: British Journal of Dermatology. 162, 4, p. 927 - 927 1 p.

    Research output: Contribution to journal › Meeting abstract

  40. Revertant mosaicism in recessive dystrophic epidermolysis bullosa due to intragenic crossover in the COL7A1 gene

    Almaani, N., Nagy, N., Liu, L., Dopping-Hepenstal, P. D. C., Lai-Cheong, J. E., Clements, S., Techanukul, T., Tanaka, A., Mellerio, J. E. & McGrath, J. A., 2010, In: British Journal of Dermatology. 162, 4, p. 940 - 940 1 p.

    Research output: Contribution to journal › Meeting abstract

  41. New insight into mechanisms of pruritus from molecular studies on familial primary localized cutaneous amyloidosis

    Tanaka, A., Arita, K., Lai-Cheong, J. E., Palisson, F., Hide, M. & McGrath, J. A., Dec 2009, In: British Journal of Dermatology. 161, 6, p. 1217 - 1224 8 p.

    Research output: Contribution to journal › Literature review › peer-review

  42. Autosomal dominant junctional epidermolysis bullosa

    Almaani, N., Liu, L., Dopping-Hepenstal, P. J. C., Lovell, P. A., Lai-Cheong, J. E., Graham, R. M., Mellerio, J. E. & McGrath, J. A., May 2009, In: British Journal of Dermatology. 160, 5, p. 1094 - 1097 4 p.

    Research output: Contribution to journal › Article › peer-review

  43. Novel truncating mutations in PKP1 and DSP cause similar skin phenotypes in two Brazilian families

    Tanaka, A., Lai-Cheong, J. E., Cafe, M. E. M., Gontijo, B., Salomao, P. R., Pereira, L. & McGrath, J. A., Mar 2009, In: British Journal of Dermatology. 160, 3, p. 692 - 697 6 p.

    Research output: Contribution to journal › Article › peer-review

  44. Kindler syndrome: a focal adhesion genodermatosis

    Lai-Cheong, J. E., Tanaka, A., Hawche, G., Emanuel, P., Maari, C., Taskesen, M., Akdeniz, S., Liu, L. & McGrath, J. A., Feb 2009, In: British Journal of Dermatology. 160, 2, p. 233 - 242 10 p.

    Research output: Contribution to journal › Literature review › peer-review

  45. Genetic linkage of a new autosomal dominant poikiloderma-upper oesophageal cancer syndrome to a 21-cM interval on 3q21-24

    Tanaka, A., Lai-Cheong, J. E., Weinel, S., Fisher, S. A., Green, P., Kulp-Shorten, C. L., Callen, J. P. & McGrath, A., 2009, In: British Journal of Dermatology. 160, 4, p. 921 - 922 2 p.

    Research output: Contribution to journal › Meeting abstract

  46. Loss-of-Function FERMT1 Mutations in Kindler Syndrome Implicate a Role for Fermitin Family Homolog-1 in Integrin Activation

    Lai-Cheong, J. E., Parsons, M., Tanaka, A., Ussar, S., South, A. P., Gomathy, S., Mee, J. B., Barbaroux, J-B., Techanukul, T., Almaani, N., Clements, S. E., Hart, I. R. & McGrath, J. A., 2009, In: American Journal of Pathology. 175, 4, p. 1431 - 1441 11 p.

    Research output: Contribution to journal › Article › peer-review

  47. Loss-of-function mutations in the ANTXR2 (CMG2) gene underlie both juvenile hyaline fibromatosis and infantile systemic hyalinosis

    Fong, K., El-Kamah, G., Clements, S., Lai-Cheong, J., Mellerio, J., El-Darouti, M. & McGrath, J., 2009, In: British Journal of Dermatology. 161, p. 119 - 119 1 p.

    Research output: Contribution to journal › Meeting abstract

  48. Mutations in FERMT1 in Kindler syndrome implicate a role for fermitin family homolog 1 in epidermal stem cell maintenance and integrin activation

    Lai-Cheong, J. E., Tanaka, A., Parsons, M. & McGrath, J. A., 2009, In: Journal of Investigative Dermatology. 129, p. S81 - S81

    Research output: Contribution to journal › Meeting abstract

  49. New Glycine Substitution Mutations in Type VII Collagen Underlying Epidermolysis Bullosa Pruriginosa but the Phenotype is not Explained by a Common Polymorphism in the Matrix Metalloproteinase-1 Gene Promoter

    Almaani, N., Liu, L., Harrison, N., Tanaka, A., Lai-Cheong, J. E., Mellerio, J. E. & McGrathi, J. A., 2009, In: Acta Dermato-Venereologica. 89, 1, p. 6 - 11 6 p.

    Research output: Contribution to journal › Article › peer-review

  50. Novel mutations in the oncostatin M receptor-beta underlie familial primary localized cutaneous amyloidosis

    Tanaka, A., Lai-Cheong, J. E., Nagy, N., Van den Akker, P., Palisson, F., Millington, G. & McGrath, J. A., 2009, In: Journal of Investigative Dermatology. 129, p. S81 - S81

    Research output: Contribution to journal › Meeting abstract

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