J. Lai-Cheong

发表

cis-Urocanic acid enhances prostaglandin E2 release and apoptotic cell death via reactive oxygen species in human keratinocytes.

M. Norval, S. Walker, A. Young, 2011, The Journal of investigative dermatology.

Loss-of-function FERMT1 mutations in kindler syndrome implicate a role for fermitin family homolog-1 in integrin activation.

J. McGrath, M. Parsons, S. Ussar, 2009, The American journal of pathology.

Identical glycine substitution mutations in type VII collagen may underlie both dominant and recessive forms of dystrophic epidermolysis bullosa.

J. McGrath, J. Mellerio, Lu Liu, 2011, Acta dermato-venereologica.

Current and Novel Approaches for Genetic Skin Disorders

A. Paller, J. Lai-Cheong, 2014 .

Revertant mosaicism in skin: natural gene therapy.

Jouni Uitto, J. Uitto, J. McGrath, 2011, Trends in molecular medicine.

Somatic forward (nonrevertant) mosaicism in recessive dystrophic epidermolysis bullosa.

J. McGrath, Lu Liu, J. Lai-Cheong, 2014, JAMA dermatology.

Revertant mosaicism in Kindler syndrome.

J. McGrath, M. Parsons, C. Moss, 2012, The Journal of investigative dermatology.

Revertant mosaicism in recessive dystrophic epidermolysis bullosa.

J. McGrath, J. Mellerio, N. Nagy, 2010, The Journal of investigative dermatology.

HB-EGF induces COL7A1 expression in keratinocytes and fibroblasts: possible mechanism underlying allogeneic fibroblast therapy in recessive dystrophic epidermolysis Bullosa.

J. McGrath, J. Mellerio, N. Nagy, 2011, The Journal of investigative dermatology.

Cutaneous Manifestations of Internal Malignancy

C. E. Kleyn, H. Bell, J. Lai-Cheong, 2006, American journal of clinical dermatology.

Colocalization of kindlin-1, kindlin-2, and migfilin at keratinocyte focal adhesion and relevance to the pathophysiology of Kindler syndrome.

J. McGrath, S. Ussar, I. Hart, 2008, The Journal of investigative dermatology.

Focal dermal hypoplasia resulting from a new nonsense mutation, p.E300X, in the PORCN gene.

J. McGrath, V. Wessagowit, J. Lai-Cheong, 2008, Journal of dermatological science.

Kindler syndrome: a focal adhesion genodermatosis

J. McGrath, P. Emanuel, C. Maari, 2009, The British journal of dermatology.

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

J. McGrath, B. Gontijo, A. Tanaka, 2009, The British journal of dermatology.

Autosomal recessive epidermolysis bullosa simplex due to loss of BPAG1-e expression.

J. McGrath, M. Parsons, J. Mellerio, 2012, The Journal of investigative dermatology.

Indeterminate cell histiocytosis responding to total skin electron beam therapy

S. Whittaker, E. Calonje, S. Morris, 2008, The British journal of dermatology.

Infantile systemic hyalinosis associated with a putative splice‐site mutation in the ANTXR2 gene

J. McGrath, D. Chirla, I. Tosi, 2012, Clinical and experimental dermatology.

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

J. McGrath, K. Amr, H. Afifi, 2010, The British journal of dermatology.

Five new homozygous mutations in the KIND1 gene in Kindler syndrome.

Vinod K. Sharma, J. McGrath, R. Kumar, 2007, The Journal of investigative dermatology.

Structure and function of skin, hair and nails

J. McGrath, J. Lai-Cheong, 2009, Medicine.

Novel and recurrent FERMT1 gene mutations in Kindler syndrome.

J. McGrath, M. Lens, A. Zlotogorski, 2011, Acta dermato-venereologica.

Unusual molecular findings in Kindler syndrome

J. McGrath, H. Fassihi, C. Pourreyron, 2007, The British journal of dermatology.

The molecular skin pathology of familial primary localized cutaneous amyloidosis

J. McGrath, A. South, N. Nagy, 2010, Experimental dermatology.

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

S. Tsai, J. McGrath, Ming-Wei Lin, 2010, European Journal of Human Genetics.

Oncostatin M receptor-beta mutations underlie familial primary localized cutaneous amyloidosis.

M. Akiyama, H. Shimizu, J. McGrath, 2008, American journal of human genetics.

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

J. McGrath, F. Palisson, M. Hide, 2009, The British journal of dermatology.

Pathogenesis‐based therapies in ichthyoses

P. Elias, A. Paller, J. Lai-Cheong, 2013, Dermatologic therapy.

A homozygous nonsense mutation within the dystonin gene coding for the coiled-coil domain of the epithelial isoform of BPAG1 underlies a new subtype of autosomal recessive epidermolysis bullosa simplex.

J. McGrath, H. Markus, T. Hashimoto, 2010, The Journal of investigative dermatology.

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

M. Simpson, J. McGrath, M. Ramam, 2012, The British journal of dermatology.

Autosomal dominant junctional epidermolysis bullosa

J. McGrath, R. Graham, J. Mellerio, 2009, The British journal of dermatology.

Germline mutation in ATR in autosomal- dominant oropharyngeal cancer syndrome.

Yuhki Yanase, Michihiro Hide, Sheila A Fisher, 2012, American journal of human genetics.

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

J. McGrath, M. Parsons, A. Tanaka, 2009 .

Genetic diseases of junctions.

J. McGrath, J. Lai-Cheong, K. Arita, 2007, The Journal of investigative dermatology.

Successful treatment of microstomia with UVA1 phototherapy in systemic sclerosis

R. Groves, J. Lai-Cheong, A. Tewari, 2011, Photodermatology, photoimmunology & photomedicine.

Next-generation diagnostics for inherited skin disorders.

J. McGrath, John A McGrath, Joey E Lai-Cheong, 2011, The Journal of investigative dermatology.

Angioid streaks with severe macular dysfunction and generalised retinal involvement due to a homozygous duplication in the ABCC6 gene

G. Holder, A. Moore, A. Robson, 2012, Eye.

Interstitial granulomatous drug reaction induced by quetiapine

A. Robson, J. Lai-Cheong, E. Tan, 2016, Clinical and experimental dermatology.

Advances in understanding the genetic basis of inherited single gene skin barrier disorders: new clues to key genes that may be involved in the pathogenesis of atopic dermatitis

J. McGrath, J. Lai-Cheong, 2006 .

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.

J. McGrath, J. Mellerio, Lu Liu, 2009, Acta dermato-venereologica.

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

J. McGrath, J. Mellerio, C. Pourreyron, 2012, The British journal of dermatology.

Kindlin-1 controls Wnt and TGF-β availability to regulate cutaneous epithelial stem cell proliferation

J. McGrath, D. Rifkin, Raphael Ruppert, 2014, Nature Medicine.

Sporadic Kindler Syndrome with a novel mutation*

J. McGrath, J. Lai-Cheong, K. Fong, 2013, Anais brasileiros de dermatologia.

Case of Kindler syndrome resulting from mutation in the FERMT1 gene

J. McGrath, N. Katoh, K. Tamai, 2012, The Journal of dermatology.

Recurrent KIND1 (C20orf42) gene mutation, c.676insC, in a Brazilian pedigree with Kindler syndrome

L. Liu, T. Cestari, J. Lai-Cheong, 2007, The British journal of dermatology.

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

J. McGrath, J. Lai-Cheong, M. Parsons, 2010, The international journal of biochemistry & cell biology.

Kindler syndrome.

J. McGrath, J. Lai-Cheong, 2011, Dermatologic clinics.

Is adermatoglyphia an additional feature of Kindler Syndrome?*

J. McGrath, J. Lai-Cheong, K. Fong, 2015, Anais brasileiros de dermatologia.

Somatic mitochondrial DNA deletions accumulate to high levels in aging human extraocular muscles.

Laura C. Greaves, Robert W. Taylor, D. Turnbull, 2010, Investigative ophthalmology & visual science.

Mutations in the ribosome biogenesis factor gene LTV1 are linked to LIPHAK syndrome, a novel poikiloderma-like disorder

C. Rivolta, J. McGrath, M. Folcher, 2022, Human Molecular Genetics.

MBTPS2 mutation in a British pedigree with keratosis follicularis spinulosa decalvans

J. Mellerio, E. Wedgeworth, A. Powell, 2012, Clinical and experimental dermatology.

Chemical atopy

J. McFadden, J. Lai-Cheong, P. Puangpet, 2013, Contact dermatitis.

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

J. Lai-Cheong, M. Parsons, J. McGrath, 2010, The international journal of biochemistry & cell biology.

Schöpf–Schulz–Passarge syndrome resulting from a homozygous nonsense mutation, p.Cys107X, in WNT10A

G. Petrof, J. Lai-Cheong, K. Fong, 2011, The Australasian journal of dermatology.

Oncostatin M receptor-beta mutations underlie familial primary localized cutaneous amyloidosis.

M. Akiyama, H. Shimizu, J. McGrath, 2008, American journal of human genetics.

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

J. Lai-Cheong, H. Isi, M. Taşkesen, 2011, Clinical and experimental dermatology.

Revertant mosaicism in the skin.

J. McGrath, J. Lai-Cheong, 2013, Giornale italiano di dermatologia e venereologia : organo ufficiale, Societa italiana di dermatologia e sifilografia.