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John McGrath

Research Profile

Physiology

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John A McGrath; W H Irwin McLean; James R McMillan; Jemima E Mellerio; Rumena Begum; Patricia Dopping-Hepenstal; Lu Liu; Anna E Martinez; Celine Pourreyron; Michael A Simpson; Andrew P South; Kristina L Stone; Maddy Parsons
Germline Mutation in EXPH5 Implicates the Rab27B Effector Protein Slac2-b in Inherited Skin Fragility.
Alya Abdul-Wahab; Gabriela Petrof; John A McGrath
Bone marrow transplantation in epidermolysis bullosa.
Joey E Lai-Cheong; M Ramam; G Sethuraman; M A Simpson; K Stone; John A McGrath
Recurrent heterozygous missense mutation, p.Gly573Ser, in the TRPV3 gene in an Indian boy with sporadic Olmsted syndrome.

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2012: John A McGrath; W H Irwin McLean; James R McMillan; Jemima E Mellerio; Rumena Begum; Patricia Dopping-Hepenstal; Lu Liu; Anna E Martinez; Celine Pourreyron; Michael A Simpson; Andrew P South; Kristina L Stone; Maddy Parsons
Germline Mutation in EXPH5 Implicates the Rab27B Effector Protein Slac2-b in Inherited Skin Fragility.
American journal of human genetics 2012;91(6):1115-21.
2012: Alya Abdul-Wahab; Gabriela Petrof; John A McGrath
Bone marrow transplantation in epidermolysis bullosa.
Immunotherapy 2012;4(12):1859-67.
2012: Joey E Lai-Cheong; M Ramam; G Sethuraman; M A Simpson; K Stone; John A McGrath
Recurrent heterozygous missense mutation, p.Gly573Ser, in the TRPV3 gene in an Indian boy with sporadic Olmsted syndrome.
The British journal of dermatology 2012;167(2):440-2.
2012: K Fong; Joey E Lai-Cheong; J E Mellerio; A M Powell; I Tosi; E K Wedgeworth; John A McGrath
MBTPS2 mutation in a British pedigree with keratosis follicularis spinulosa decalvans.
Clinical and experimental dermatology 2012;37(6):631-4.
2012: K Fong; Joey E Lai-Cheong; L Liu; S K Panda; A R Rama Devi; I Tosi; D Chirla; John A McGrath
Infantile systemic hyalinosis associated with a putative splice-site mutation in the ANTXR2 gene.
Clinical and experimental dermatology 2012;37(6):635-8.
2012: Andrew Y Finlay; C E M Griffiths; John A McGrath
Twenty top tips to triumph in dermatology.
The British journal of dermatology 2012;167(2):445-6.
2012: S E Clements; Joey E Lai-Cheong; Nigel P Burrows; J B Mee; J E Mellerio; C Pourreyron; Andrew P South; T Techanukul; John A McGrath
Mutations in AEC syndrome skin reveal a role for p63 in basement membrane adhesion, skin barrier integrity and hair follicle biology.
The British journal of dermatology 2012;167(1):134-44.
2012: John A McGrath; Michael K Robinson; R L Binder
Skin differences based on age and chronicity of ultraviolet exposure: results from a gene expression profiling study.
The British journal of dermatology 2012;166 Suppl 2():9-15.
2012: Sasha Pavlovic; Maria M Medenica; Ken Arita; Tanja K Bulj; Kenneth Fong; Aleksandar L Krunic; John A McGrath
Acral peeling skin syndrome: a clinically and genetically heterogeneous disorder.
Pediatric dermatology 2012;29(3):258-63.
2012: Akio Tanaka; Sarah Weinel; Yuhki Yanase; Nikoletta Nagy; Mark O'Driscoll; Jeffrey Callen; Gillian Carpenter; Sheila A Fisher; Michihiro Hide; Makiko Hiragun; Alfred Knable; Carol L Kulp-Shorten; Joey E Lai-Cheong; John A McGrath
Germline mutation in ATR in autosomal- dominant oropharyngeal cancer syndrome.
American journal of human genetics 2012;90(3):511-7.
2012: Lu Liu; Patricia A Lovell; Jemima E Mellerio; Magdalene Michael; Maddy Parsons; Patricia Dopping-Hepenstal; Kenneth Fong; Helen Horn; Joey E Lai-Cheong; John A McGrath
Autosomal recessive epidermolysis bullosa simplex due to loss of BPAG1-e expression.
The Journal of investigative dermatology 2012;132(3 Pt 1):742-4.
2012: Joey E Lai-Cheong; Celia Moss; Maddy Parsons; Noor Almaani; John A McGrath
Revertant mosaicism in Kindler syndrome.
The Journal of investigative dermatology 2012;132(3 Pt 1):730-2.
2011: Joey E Lai-Cheong; John A McGrath
Next-generation diagnostics for inherited skin disorders.
The Journal of investigative dermatology 2011;131(10):1971-3.
2011: Gabriela Petrof; Sarah E Cockayne; Kenneth Fong; Joey E Lai-Cheong; John A McGrath
Schöpf-Schulz-Passarge syndrome resulting from a homozygous nonsense mutation, p.Cys107X, in WNT10A.
The Australasian journal of dermatology 2011;52(3):224-6.
2011: E V J Edmonds; N Francis; John A McGrath; Noritaka Oyama; Ien Chan; C B Bunker
Extracellular matrix protein 1 autoantibodies in male genital lichen sclerosus.
The British journal of dermatology 2011;165(1):218-9.
2011: K Fong; Sedat Akdeniz; H Isi; M Taskesen; John A McGrath; Joey E Lai-Cheong
New homozygous SPINK5 mutation, p.Gln333X, in a Turkish pedigree with Netherton syndrome.
Clinical and experimental dermatology 2011;36(4):412-5.
2011: Joey E Lai-Cheong; John A McGrath
What is Kindler syndrome?
Skinmed 2011;9(3):145-6.
2011: Noor Almaani; Lu Liu; Patricia Dopping-Hepenstal; Joey E Lai-Cheong; Alvin Wong; Arti Nanda; Celia Moss; Anna E Martinéz; Jemima E Mellerio; John A McGrath
Identical glycine substitution mutations in type VII collagen may underlie both dominant and recessive forms of dystrophic epidermolysis bullosa.
Acta dermato-venereologica 2011;91(3):262-6.
2011: Tanasit Techanukul; Gomathy Sethuraman; Abraham Zlotogorski; Liran Horev; Michal Macarov; Alison Trainer; Kenneth Fong; Marko Lens; Ljiljana Medenica; Venkatesh Ramesh; John A McGrath; Joey E Lai-Cheong
Novel and recurrent FERMT1 gene mutations in Kindler syndrome.
Acta dermato-venereologica 2011;91(3):267-70.
2011: Emma K Wedgeworth; Nikoletta Nagy; Jonathan M L White; Andrew C Pembroke; John A McGrath
Intra-familial variability of ectodermal defects associated with WNT10A mutations.
Acta dermato-venereologica 2011;91(3):346-7.
2011: Joey E Lai-Cheong; John A McGrath; Jouni Uitto
Revertant mosaicism in skin: natural gene therapy.
Trends in molecular medicine 2011;17(3):140-8.
2010: Karin J Purdie; Celine Pourreyron; Hiva Fassihi; Rodrigo Cepeda-Valdes; John W Frew; Andreas Volz; Sönke J Weissenborn; Herbert Pfister; Charlotte M Proby; Leena Bruckner-Tuderman; Dedee F Murrell; Julio C Salas-Alanis; John A McGrath; Irene M Leigh; Catherine A Harwood; Andrew P South
No evidence that human papillomavirus is responsible for the aggressive nature of recessive dystrophic epidermolysis bullosa-associated squamous cell carcinoma.
The Journal of investigative dermatology 2010;130(12):2853-5.
2010: A Pérez; N Almaani; C M Stefanato; B BhogaL; Richard Groves; Jemima E Mellerio; John A McGrath
Bullous pemphigoid in a patient with suspected non-Herlitz junctional epidermolysis bullosa.
Clinical and experimental dermatology 2010;35(8):881-4.
2010: Nikoletta Nagy; Akio Tanaka; Tanasit Techanukul; John A McGrath
Common IL-31 gene haplotype associated with non-atopic eczema is not implicated in epidermolysis bullosa pruriginosa.
Acta dermato-venereologica 2010;90(6):631-2.
2010: Katharine Forrest; Jemima E Mellerio; Stephanie Robb; Patricia Dopping-Hepenstal; John A McGrath; Lu Liu; Stefan J A Buk; Safa Al-Sarraj; Elizabeth Wraige; Heinz Jungbluth
Congenital muscular dystrophy, myasthenic symptoms and epidermolysis bullosa simplex (EBS) associated with mutations in the PLEC1 gene encoding plectin.
Neuromuscular disorders : NMD 2010;20(11):709-11.
2010: Nikoletta Nagy; Clive E Grattan; John A McGrath
New insights into hereditary angio-oedema: Molecular diagnosis and therapy.
The Australasian journal of dermatology 2010;51(3):157-62.
2010: Noor Almaani; Nikoletta Nagy; Lu Liu; Patricia Dopping-Hepenstal; Joey E Lai-Cheong; Suzanne E Clements; Tanasit Techanukul; Akio Tanaka; Jemima E Mellerio; John A McGrath
Revertant mosaicism in recessive dystrophic epidermolysis bullosa.
The Journal of investigative dermatology 2010;130(7):1937-40.
2010: Nikoletta Nagy; Emma Wedgeworth; Takahiro Hamada; Jonathan M White; Takashi Hashimoto; John A McGrath
Schöpf-Schulz-Passarge syndrome resulting from a homozygous nonsense mutation in WNT10A.
Journal of dermatological science 2010;58(3):220-2.
2010: Richard Groves; Lu Liu; Patricia Dopping-Hepenstal; Hugh S Markus; Patricia A Lovell; Linda Ozoemena; Joey E Lai-Cheong; Jeffrey Gawler; Katsushi Owaribe; Takashi Hashimoto; Jemima E Mellerio; John B Mee; John A McGrath
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.
The Journal of investigative dermatology 2010;130(6):1551-7.
2010: H Fassihi; L Liu; P J Renwick; P R Braude; John A McGrath
Development and successful clinical application of preimplantation genetic haplotyping for Herlitz junctional epidermolysis bullosa.
The British journal of dermatology 2010;162(6):1330-6.
2010: Rita M Cabral; Lu Liu; Carol Hogan; Patricia Dopping-Hepenstal; Beatriz C Winik; Raúl A Asial; Richard Dobson; Charles A Mein; Patricia A Baselaga; Jemima E Mellerio; Arti Nanda; Maria del Carmen Boente; David P Kelsell; John A McGrath; Andrew P South
Homozygous mutations in the 5' region of the JUP gene result in cutaneous disease but normal heart development in children.
The Journal of investigative dermatology 2010;130(6):1543-50.
2010: Akio Tanaka; Joey E Lai-Cheong; Peter C van den Akker; Nikoletta Nagy; George Millington; Gilles F H Diercks; Pieter C van Voorst Vader; Suzanne E Clements; Noor Almaani; Tanasit Techanukul; Michihiro Hide; Andrew P South; John A McGrath
The molecular skin pathology of familial primary localized cutaneous amyloidosis.
Experimental dermatology 2010;19(5):416-23.
2010: Joey E Lai-Cheong; Maddy Parsons; John A McGrath
The role of kindlins in cell biology and relevance to human disease.
The international journal of biochemistry & cell biology 2010;42(5):595-603.
2010: Hiva Fassihi; John A McGrath
Prenatal diagnosis of epidermolysis bullosa.
Dermatologic clinics 2010;28(2):231-7, viii.
2010: Nikoletta Nagy; John A McGrath
Blistering skin diseases: a bridge between dermatopathology and molecular biology.
Histopathology 2010;56(1):91-9.
2010: John A McGrath; Maria C Bolling; Marcel F Jonkman
Lethal acantholytic epidermolysis bullosa.
Dermatologic clinics 2010;28(1):131-5.
2010: Joey E Lai-Cheong; John A McGrath
Kindler syndrome.
Dermatologic clinics 2010;28(1):119-24.
2010: S E Clements; T Techanukul; D Coman; Jemima E Mellerio; John A McGrath
Molecular basis of EEC (ectrodactyly, ectodermal dysplasia, clefting) syndrome: five new mutations in the DNA-binding domain of the TP63 gene and genotype-phenotype correlation.
The British journal of dermatology 2010;162(1):201-7.
2009: N Almaani; Lin Liu; A Perez; A Robson; Jemima E Mellerio; John A McGrath
Epidermolysis bullosa pruriginosa in association with lichen planopilaris.
Clinical and experimental dermatology 2009;34(8):e825-8.
2009: A Tanaka; Ken Arita; Joey E Lai-Cheong; F Palisson; M Hide; John A McGrath
New insight into mechanisms of pruritus from molecular studies on familial primary localized cutaneous amyloidosis.
The British journal of dermatology 2009;161(6):1217-24.
2009: Joey E Lai-Cheong; Maddy Parsons; Akio Tanaka; Siegfried Ussar; Andrew P South; Sethuraman Gomathy; John B Mee; Jean-Baptiste Barbaroux; Tanasit Techanukul; Noor Almaani; Suzanne E Clements; Ian R Hart; John A McGrath
Loss-of-function FERMT1 mutations in kindler syndrome implicate a role for fermitin family homolog-1 in integrin activation.
The American journal of pathology 2009;175(4):1431-41.
2009: Ken Arita; Riichiro Abe; Keiko Baba; John A McGrath; Masashi Akiyama; Hiroshi Shimizu
A novel OSMR mutation in familial primary localized cutaneous amyloidosis in a Japanese family.
Journal of dermatological science 2009;55(1):64-5.
2009: Vera L Martins; Jashmin J Vyas; Mei Chen; Karin J Purdie; Charles A Mein; Andrew P South; Alan Storey; John A McGrath; Edel A O'Toole
Increased invasive behaviour in cutaneous squamous cell carcinoma with loss of basement-membrane type VII collagen.
Journal of cell science 2009;122(Pt 11):1788-99.
2009: S E Clements; Jemima E Mellerio; S T Holden; J McCauley; John A McGrath
PORCN gene mutations and the protean nature of focal dermal hypoplasia.
The British journal of dermatology 2009;160(5):1103-9.
2009: N Almaani; L Liu; Patricia Dopping-Hepenstal; P A Lovell; Joey E Lai-Cheong; R M Graham; Jemima E Mellerio; John A McGrath
Autosomal dominant junctional epidermolysis bullosa.
The British journal of dermatology 2009;160(5):1094-7.
2009: Joey E Lai-Cheong; A Tanaka; G Hawche; P Emanuel; C Maari; M Taskesen; S Akdeniz; L Liu; John A McGrath
Kindler syndrome: a focal adhesion genodermatosis.
The British journal of dermatology 2009;160(2):233-42.
2009: Noor Almaani; Lu Liu; Naomi Harrison; Akio Tanaka; Joey E Lai-Cheong; Jemima E Mellerio; John A McGrath
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.
Acta dermato-venereologica 2009;89(1):6-11.
2008: Joey E Lai-Cheong; Siegfried Ussar; Ken Arita; I R Hart; John A McGrath
Colocalization of kindlin-1, kindlin-2, and migfilin at keratinocyte focal adhesion and relevance to the pathophysiology of Kindler syndrome.
The Journal of investigative dermatology 2008;128(9):2156-65.
2008: Tracy Wong; Luke Gammon; Lu Liu; Jemima E Mellerio; Patricia Dopping-Hepenstal; John Pacy; George Elia; Rosemary Jeffery; Irene M Leigh; Harshad Navsaria; John A McGrath
Potential of fibroblast cell therapy for recessive dystrophic epidermolysis bullosa.
The Journal of investigative dermatology 2008;128(9):2179-89.
2008: Tuula Rinne; Suzanne E Clements; Evert Lamme; Pascal Duijf; Emine Bolat; Rowdy Meijer; Hans Scheffer; Elisabeth Rosser; Tiong Yang Tan; John A McGrath; Joost Schalkwijk; Han G Brunner; Huiqing Zhou; Hans van Bokhoven
A novel translation re-initiation mechanism for the p63 gene revealed by amino-terminal truncating mutations in Rapp-Hodgkin/Hay-Wells-like syndromes.
Human molecular genetics 2008;17(13):1968-77.
2008: John A McGrath
Filaggrin and the great epidermal barrier grief.
The Australasian journal of dermatology 2008;49(2):67-73; quiz 73-4.
2008: A C Thomas; C Sinclair; N Mahmud; Tom Cullup; J E Mellerio; J Harper; Beverly A Dale; C Turc-Carel; D Hohl; John A McGrath; A Vahlquist; M Hellstrom-Pigg; A Ganemo; K Metcalfe; Charles A Mein; Edel A O'Toole; David P Kelsell
Novel and recurring ABCA12 mutations associated with harlequin ichthyosis: implications for prenatal diagnosis.
The British journal of dermatology 2008;158(3):611-3.
2008: Ken Arita; Andrew P South; Günter Hans-Filho; Thais Harumi Sakuma; Joey Lai-Cheong; Suzanne Clements; Maçanori Odashiro; Danilo Nakao Odashiro; Günter Hans-Neto; Nelise Ritter Hans; Maxine V Holder; Balbir S Bhogal; Sian T Hartshorne; Masashi Akiyama; Hiroshi Shimizu; John A McGrath
Oncostatin M receptor-beta mutations underlie familial primary localized cutaneous amyloidosis.
American journal of human genetics 2008;82(1):73-80.
2008: John A McGrath; Jouni Uitto
The filaggrin story: novel insights into skin-barrier function and disease.
Trends in molecular medicine 2008;14(1):20-7.
2008: K Arita; A Nanda; Vesarat Wessagowit; M Akiyama; Q A Alsaleh; John A McGrath
A novel mutation in the VDR gene in hereditary vitamin D-resistant rickets.
The British journal of dermatology 2008;158(1):168-71.
2008: Suzanne E Clements; Vesarat Wessagowit; Joey E Lai-Cheong; Ken Arita; John A McGrath
Focal dermal hypoplasia resulting from a new nonsense mutation, p.E300X, in the PORCN gene.
Journal of dermatological science 2008;49(1):39-42.
2007: Joey E Lai-Cheong; Ken Arita; John A McGrath
Genetic diseases of junctions.
The Journal of investigative dermatology 2007;127(12):2713-25.
2007: K Arita; Vesarat Wessagowit; A C Inamadar; A Palit; Hiva Fassihi; Joey E Lai-Cheong; C Pourreyron; Andrew P South; John A McGrath
Unusual molecular findings in Kindler syndrome.
The British journal of dermatology 2007;157(6):1252-6.
2007: Ien Chan; Lu Liu; Takahiro Hamada; Gomathy Sethuraman; John A McGrath
The molecular basis of lipoid proteinosis: mutations in extracellular matrix protein 1.
Experimental dermatology 2007;16(11):881-90.
2007: Celine Pourreyron; Georgie Cox; Xin Mao; Andreas Volz; Nuzhat Baksh; Tracy Wong; Hiva Fassihi; Ken Arita; Edel A O'Toole; Jorge Ocampo-Candiani; Mei Chen; Ian R Hart; Leena Bruckner-Tuderman; Julio C Salas-Alanis; John A McGrath; Irene M Leigh; Andrew P South
Patients with recessive dystrophic epidermolysis bullosa develop squamous-cell carcinoma regardless of type VII collagen expression.
The Journal of investigative dermatology 2007;127(10):2438-44.
2007: Joey E Lai-Cheong; Lu Liu; Gomathy Sethuraman; Rajesh Kumar; Vinod K Sharma; Siva R Reddy; Anders Vahlquist; Sandra Pather; Ken Arita; Vesarat Wessagowit; John A McGrath
Five new homozygous mutations in the KIND1 gene in Kindler syndrome.
The Journal of investigative dermatology 2007;127(9):2268-70.
2007: Ken Arita; Witold K Jacyk; Vesarat Wessagowit; Elizabeth Jansen van Rensburg; Tracy Chaplin; Charles A Mein; Masashi Akiyama; Hiroshi Shimizu; Rudolf Happle; John A McGrath
The South African "bathing suit ichthyosis" is a form of lamellar ichthyosis caused by a homozygous missense mutation, p.R315L, in transglutaminase 1.
The Journal of investigative dermatology 2007;127(2):490-3.
2007: Haihui Liao; Yiwei Zhao; David U Baty; John A McGrath; Jemima E Mellerio; W H Irwin McLean
A heterozygous frameshift mutation in the V1 domain of keratin 5 in a family with Dowling-Degos disease.
The Journal of investigative dermatology 2007;127(2):298-300.
2006: Lu Liu; Yew Sing Choy; Vesarat Wessagowit; Linda Ozoemena; Patricia Dopping-Hepenstal; Hiva Fassihi; John A McGrath
Single nucleotide polymorphism in a commonly utilized LAMB3 primer sequence: implications for mutation detection and haplotype analysis in junctional epidermolysis bullosa.
Journal of dermatological science 2006;44(1):48-51.
2006: Hiva Fassihi; Liu Lu; Vesarat Wessagowit; Linda C Ozoemena; Catherine A Jones; Patricia Dopping-Hepenstal; Lesley Foster; David J Atherton; Jemima E Mellerio; John A McGrath
Complete maternal isodisomy of chromosome 3 in a child with recessive dystrophic epidermolysis bullosa but no other phenotypic abnormalities.
The Journal of investigative dermatology 2006;126(9):2039-43.
2006: Cristina Has; Vesarat Wessagowit; Monica Pascucci; Corinna Baer; Biagio Didona; Christian Wilhelm; Cristina Pedicelli; Andrea Locatelli; Juergen Kohlhase; G H S Ashton; Gianluca Tadini; Giovanna Zambruno; Leena Bruckner-Tuderman; John A McGrath; Daniele Castiglia
Molecular basis of Kindler syndrome in Italy: novel and recurrent Alu/Alu recombination, splice site, nonsense, and frameshift mutations in the KIND1 gene.
The Journal of investigative dermatology 2006;126(8):1776-83.
2006: Sibel Ersoy-Evans; Gül Erkin; Hiva Fassihi; Ien Chan; Amy S Paller; Selçuk Sürücü; John A McGrath
Ectodermal dysplasia-skin fragility syndrome resulting from a new homozygous mutation, 888delC, in the desmosomal protein plakophilin 1.
Journal of the American Academy of Dermatology 2006;55(1):157-61.
2006: Hiva Fassihi; Pamela J Renwick; C Black; John A McGrath
Single cell PCR amplification of microsatellites flanking the COL7A1 gene and suitability for preimplantation genetic diagnosis of Hallopeau-Siemens recessive dystrophic epidermolysis bullosa.
Journal of dermatological science 2006;42(3):241-8.
2006: Joanna M Burch; Hiva Fassihi; Catherine A Jones; Sarah C Mengshol; James E Fitzpatrick; John A McGrath
Kindler syndrome: a new mutation and new diagnostic possibilities.
Archives of dermatology 2006;142(5):620-4.
2006: Hiva Fassihi; T Wong; Vesarat Wessagowit; John A McGrath; Jemima E Mellerio
Target proteins in inherited and acquired blistering skin disorders.
Clinical and experimental dermatology 2006;31(2):252-9.
2006: Hiva Fassihi; Jan Grace; Alison Lashwood; Neil Whittock; Peter Braude; Susan Pickering; John A McGrath
Preimplantation genetic diagnosis of skin fragility-ectodermal dysplasia syndrome.
The British journal of dermatology 2006;154(3):546-50.
2006: Hiva Fassihi; Robin A J Eady; Jemima E Mellerio; G H S Ashton; Patricia Dopping-Hepenstal; Jacqueline E Denyer; K H Nicolaides; C H Rodeck; John A McGrath
Prenatal diagnosis for severe inherited skin disorders: 25 years' experience.
The British journal of dermatology 2006;154(1):106-13.
2005: Hiva Fassihi; V C Diba; Vesarat Wessagowit; Patricia Dopping-Hepenstal; Catherine A Jones; N P Burrows; John A McGrath
Transient bullous dermolysis of the newborn in three generations.
The British journal of dermatology 2005;153(5):1058-63.
2005: John A McGrath
Inherited disorders of desmosomes.
The Australasian journal of dermatology 2005;46(4):221-9.
2005: Vesarat Wessagowit; Vijay K Nalla; Peter K Rogan; John A McGrath
Normal and abnormal mechanisms of gene splicing and relevance to inherited skin diseases.
Journal of dermatological science 2005;40(2):73-84.
2005: Hiva Fassihi; Vesarat Wessagowit; Catherine Jones; Patricia Dopping-Hepenstal; Jacqueline E Denyer; Jemima E Mellerio; Sheila Clark; John A McGrath
Neonatal diagnosis of Kindler syndrome.
Journal of dermatological science 2005;39(3):183-5.
2005: John A McGrath; Vesarat Wessagowit
Human hair abnormalities resulting from inherited desmosome gene mutations.
The Keio journal of medicine 2005;54(2):72-9.
2005: S Ozanic Bulic; Hiva Fassihi; Jemima E Mellerio; John A McGrath; David J Atherton
Thalidomide in the management of epidermolysis bullosa pruriginosa.
The British journal of dermatology 2005;152(6):1332-4.
2005: Cezary Kowalewski; Anna Kozłowska; Ien Chan; Marta Górska; Katarzyna Woźniak; Stefania Jabłońska; John A McGrath
Three-dimensional imaging reveals major changes in skin microvasculature in lipoid proteinosis and lichen sclerosus.
Journal of dermatological science 2005;38(3):215-24.
2005: G Sethuraman; Hiva Fassihi; G H S Ashton; A Bansal; M Kabra; V K Sharma; John A McGrath
An Indian child with Kindler syndrome resulting from a new homozygous nonsense mutation (C468X) in the KIND1 gene.
Clinical and experimental dermatology 2005;30(3):286-8.
2005: Joey E Lai-Cheong; Vesarat Wessagowit; John A McGrath
Molecular abnormalities of the desmosomal protein desmoplakin in human disease.
Clinical and experimental dermatology 2005;30(3):261-6.
2005: Vesarat Wessagowit; Soo-Chan Kim; Se Woong Oh; John A McGrath
Genotype-phenotype correlation in recessive dystrophic epidermolysis bullosa: when missense doesn't make sense.
The Journal of investigative dermatology 2005;124(4):863-6.
2005: Ien Chan; John A McGrath; S Kivirikko
Rapp-Hodgkin syndrome and the tail of p63.
Clinical and experimental dermatology 2005;30(2):183-6.
2005: Hiva Fassihi; G H S Ashton; Jacqueline E Denyer; Jemima E Mellerio; G Mason; John A McGrath
Prenatal diagnosis of Herlitz junctional epidermolysis bullosa in nonidentical twins.
Clinical and experimental dermatology 2005;30(2):180-2.
2005: Akemi Ishida-Yamamoto; Céline Deraison; Chrystelle Bonnart; Emmanuelle Bitoun; Ross Robinson; Timothy J O'Brien; Kotaro Wakamatsu; Sawa Ohtsubo; Hidetoshi Takahashi; Yoshio Hashimoto; Patricia Dopping-Hepenstal; John A McGrath; Hajime Iizuka; Gabriele Richard; Alain Hovnanian
LEKTI is localized in lamellar granules, separated from KLK5 and KLK7, and is secreted in the extracellular spaces of the superficial stratum granulosum.
The Journal of investigative dermatology 2005;124(2):360-6.
2005: Vesarat Wessagowit; John A McGrath
Clinical and molecular significance of splice site mutations in the plakophilin 1 gene in patients with ectodermal dysplasia-skin fragility syndrome.
Acta dermato-venereologica 2005;85(5):386-8.
2005: Ien Chan; T Wong; Amalia Martinez-Mir; Angela M Christiano; John A McGrath
Familial multiple cutaneous and uterine leiomyomas associated with papillary renal cell cancer.
Clinical and experimental dermatology 2005;30(1):75-8.
2005: Hiva Fassihi; Vesarat Wessagowit; G H S Ashton; Celia Moss; R Ward; Jacqueline E Denyer; Jemima E Mellerio; John A McGrath
Complete paternal uniparental isodisomy of chromosome 1 resulting in Herlitz junctional epidermolysis bullosa.
Clinical and experimental dermatology 2005;30(1):71-4.
2004: Ien Chan; John I Harper; Jemima E Mellerio; John A McGrath
ADULT ectodermal dysplasia syndrome resulting from the missense mutation R298Q in the p63 gene.
Clinical and experimental dermatology 2004;29(6):669-72.
2004: Vesarat Wessagowit; Rajeev Mallipeddi; John A McGrath; Andrew P South
Altered expression of L-arginine metabolism pathway genes in chronic wounds in recessive dystrophic epidermolysis bullosa.
Clinical and experimental dermatology 2004;29(6):664-8.
2004: Ien Chan; Gomathy Sethuraman; Vinod K Sharma; Elizabeth Bruning; Takahiro Hamada; John A McGrath
Molecular basis of lipoid proteinosis in two Indian siblings.
The Journal of dermatology 2004;31(9):764-6.
2004: Ien Chan; Noritaka Oyama; Sallie M Neill; Fenella Wojnarowska; Martin M Black; John A McGrath
Characterization of IgG autoantibodies to extracellular matrix protein 1 in lichen sclerosus.
Clinical and experimental dermatology 2004;29(5):499-504.
2004: Rajeev Mallipeddi; F M Keane; John A McGrath; B J Mayou; Robin A J Eady
Increased risk of squamous cell carcinoma in junctional epidermolysis bullosa.
Journal of the European Academy of Dermatology and Venereology : JEADV 2004;18(5):521-6.
2004: Ien Chan; Andrew P South; John A McGrath; Noritaka Oyama; Balbir S Bhogal; Martin M Black; Takahiro Hamada
Rapid diagnosis of lipoid proteinosis using an anti-extracellular matrix protein 1 (ECM1) antibody.
Journal of dermatological science 2004;35(2):151-3.
2004: Noritaka Oyama; Ien Chan; Sallie M Neill; Andrew P South; Fenella Wojnarowska; Yoshio Kawakami; David D'Cruz; Kirti Mepani; Graham J Hughes; Balbir S Bhogal; Fumio Kaneko; Martin M Black; John A McGrath
Development of antigen-specific ELISA for circulating autoantibodies to extracellular matrix protein 1 in lichen sclerosus.
The Journal of clinical investigation 2004;113(11):1550-9.
2004: Hong Wan; Patricia Dopping-Hepenstal; Matthew Gratian; Michael G Stone; G Zhu; Patricia E Purkis; Andrew P South; FM Keane; D K B Armstrong; Roger S Buxton; John A McGrath; Robin A J Eady
Striate palmoplantar keratoderma arising from desmoplakin and desmoglein 1 mutations is associated with contrasting perturbations of desmosomes and the keratin filament network.
The British journal of dermatology 2004;150(5):878-91.
2004: Rajeev Mallipeddi; Vesarat Wessagowit; Andrew P South; Alistair M Robson; Guy E Orchard; Robin A J Eady; John A McGrath
Reduced expression of insulin-like growth factor-binding protein-3 (IGFBP-3) in Squamous cell carcinoma complicating recessive dystrophic epidermolysis bullosa.
The Journal of investigative dermatology 2004;122(5):1302-9.
2004: John A McGrath
Translational benefits from research on rare genodermatoses.
The Australasian journal of dermatology 2004;45(2):89-93.
2004: G H S Ashton; W H Irwin McLean; Andrew P South; Noritaka Oyama; Frances J D Smith; Raouf Al-Suwaid; Abla Al-Ismaily; David J Atherton; Catherine A Harwood; Irene M Leigh; Celia Moss; Biagio Didona; Giovanna Zambruno; Annalisa Patrizi; Robin A J Eady; John A McGrath
Recurrent mutations in kindlin-1, a novel keratinocyte focal contact protein, in the autosomal recessive skin fragility and photosensitivity disorder, Kindler syndrome.
The Journal of investigative dermatology 2004;122(1):78-83.
2003: Rajeev Mallipeddi; Oliver Bleck; Jemima E Mellerio; G H S Ashton; Robin A J Eady; John A McGrath
Dilemmas in distinguishing between dominant and recessive forms of dystrophic epidermolysis bullosa.
The British journal of dermatology 2003;149(4):810-8.
2003: W H Irwin McLean; Alan D Irvine; Kevin J Hamill; Neil Whittock; Carrie M Coleman-Campbell; Jemima E Mellerio; Gabrielle S Ashton; Patricia Dopping-Hepenstal; Robin A J Eady; Tanvir Jamil; Roderic J Phillips; S Ghulam Shabbir; Tahir Saeed Haroon; Khawar Khurshid; Jonathan E Moore; Brian Page; Jonathan Darling; David J Atherton; Maurice A M van Steensel; Colin S Munro; Frances J D Smith; John A McGrath; Rodney J Phillips
An unusual N-terminal deletion of the laminin alpha3a isoform leads to the chronic granulation tissue disorder laryngo-onycho-cutaneous syndrome.
Human molecular genetics 2003;12(18):2395-409.
2003: Andrew P South; Hong Wan; Michael G Stone; Patricia Dopping-Hepenstal; Patricia E Purkis; John FRancis Marshall; Irene M Leigh; Robin A J Eady; Ian R Hart; John A McGrath
Lack of plakophilin 1 increases keratinocyte migration and reduces desmosome stability.
Journal of cell science 2003;116(Pt 16):3303-14.
2003: Hong Wan; Patricia Dopping-Hepenstal; Matthew Gratian; Michael G Stone; John A McGrath; Robin A J Eady
Desmosomes exhibit site-specific features in human palm skin.
Experimental dermatology 2003;12(4):378-88.
2003: Noritaka Oyama; Ien Chan; Sallie M Neill; Takahiro Hamada; Andrew P South; Vesarat Wessagowit; Fenella Wojnarowska; David D'Cruz; Graham J Hughes; Martin M Black; John A McGrath
Autoantibodies to extracellular matrix protein 1 in lichen sclerosus.
Lancet 2003;362(9378):118-23.
2003: James R McMillan; Marek Haftek; Masashi Akiyama; Andrew P South; Henri Perrot; John A McGrath; Robin A J Eady; Hiroshi Shimizu
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.
The Journal of investigative dermatology 2003;121(1):96-103.
2003: Takahiro Hamada; Vesarat Wessagowit; Andrew P South; G H S Ashton; Ien Chan; Noritaka Oyama; Apatorn Siriwattana; Prachiya Jewhasuchin; Somyot Charuwichitratana; elangovan sundararajan; Balasubramanian Jeevankumar; Patsy Lenane; Bernice R Krafchik; Kanokvalai Kulthanan; Hiroshi Shimizu; Tamer Irfan Kaya; Mehmet E Erdal; Mauro Paradisi; Amy S Paller; Mariko Seishima; Takashi Hashimoto; John A McGrath
Extracellular matrix protein 1 gene (ECM1) mutations in lipoid proteinosis and genotype-phenotype correlation.
The Journal of investigative dermatology 2003;120(3):345-50.
2002: Rita Gardella; Daniele Castiglia; Patrizia Posteraro; Silvia Bernardini; Nicoletta Zoppi; Mauro Paradisi; Gianluca Tadini; Sergio Barlati; John A McGrath; Giovanna Zambruno; Marina Colombi
Genotype-phenotype correlation in italian patients with dystrophic epidermolysis bullosa.
The Journal of investigative dermatology 2002;119(6):1456-62.
2002: SD Morris; Rajeev Mallipeddi; Noritaka Oyama; Matthew Gratian; Karen E Harman; Balbir S Bhogal; Martin M Black; Robin A J Eady; T Hashimoto; John A McGrath
Psoriasis bullosa acquisita.
Clinical and experimental dermatology 2002;27(8):665-9.
2002: Takahiro Hamada; Ien Chan; Colin Willoughby; David R Goudie; John A McGrath
Common mutations in Arg304 of the p63 gene in ectrodactyly, ectodermal dysplasia, clefting syndrome: lack of genotype-phenotype correlation and implications for mutation detection strategies.
The Journal of investigative dermatology 2002;119(5):1202-3.
2002: Neil Whittock; Frances J D Smith; Hong Wan; Rajeev Mallipeddi; W Andrew Griffiths; Patricia Dopping-Hepenstal; G H S Ashton; Robin A J Eady; W H Irwin McLean; John A McGrath
Frameshift mutation in the V2 domain of human keratin 1 results in striate palmoplantar keratoderma.
The Journal of investigative dermatology 2002;118(5):838-44.
2002: G H S Ashton; John A McGrath; Andrew P South
Strategies to identify disease genes.
Drugs of today (Barcelona, Spain : 1998) 2002;38(4):235-44.
2002: Takahiro Hamada; Andrew P South; Y Mitsuhashi; T Kinebuchi; Oliver Bleck; G H S Ashton; Y Hozumi; T Suzuki; Takashi Hashimoto; Robin A J Eady; John A McGrath
Genotype-phenotype correlation in skin fragility-ectodermal dysplasia syndrome resulting from mutations in plakophilin 1.
Experimental dermatology 2002;11(2):107-14.
2002: Takahiro Hamada; W H Irwin McLean; Michele Ramsay; G H S Ashton; Arti Nanda; Trefor Jenkins; Isobel Edelstein; Andrew P South; Oliver Bleck; Vesarat Wessagowit; Rajeev Mallipeddi; Guy E Orchard; Hong Wan; Patricia Dopping-Hepenstal; Jemima E Mellerio; Neil Whittock; Colin S Munro; Maurice A M van Steensel; Peter M Steijlen; Jian Ni; Lurong Zhang; Takashi Hashimoto; Robin A J Eady; John A McGrath
Lipoid proteinosis maps to 1q21 and is caused by mutations in the extracellular matrix protein 1 gene (ECM1).
Human molecular genetics 2002;11(7):833-40.
2002: Andrew P South; G H S Ashton; Colin Willoughby; I H Ellis; Oliver Bleck; Takahiro Hamada; G Mannion; Vesarat Wessagowit; Takashi Hashimoto; Robin A J Eady; John A McGrath
EEC (Ectrodactyly, Ectodermal dysplasia, Clefting) syndrome: heterozygous mutation in the p63 gene (R279H) and DNA-based prenatal diagnosis.
The British journal of dermatology 2002;146(2):216-20.
2001: P Sorelli; Matthew Gratian; Balbir S Bhogal; John A McGrath
Immunogold electron microscopy using skin in Michel's medium intended for immunofluorescence analysis.
Clinics in dermatology 2001;19(5):638-41.
2001: Oliver Bleck; G H S Ashton; Rajeev Mallipeddi; Andrew P South; Neil Whittock; W H Irwin McLean; David J Atherton; John A McGrath
Genomic localization, organization and amplification of the human zinc transporter protein gene, ZNT4, and exclusion as a candidate gene in different clinical variants of acrodermatitis enteropathica.
Archives of dermatological research 2001;293(8):392-6.
2001: Neil Whittock; G H S Ashton; W Andrew Griffiths; Robin A J Eady; John A McGrath
New mutations in keratin 1 that cause bullous congenital ichthyosiform erythroderma and keratin 2e that cause ichthyosis bullosa of Siemens.
The British journal of dermatology 2001;145(2):330-5.
2001: Alan R Thornhill; John A McGrath; R A Eady; Peter Braude; Alan H Handyside
A comparison of different lysis buffers to assess allele dropout from single cells for preimplantation genetic diagnosis.
Prenatal diagnosis 2001;21(6):490-7.
2001: John A McGrath
Keratinocyte adhesion and the missing link: from Dowling-Meara to Hay-Wells. St John's Hospital Dermatological Society Annual Oration 2000.
Clinical and experimental dermatology 2001;26(3):296-304.
2001: Oliver Bleck; John A McGrath; Andrew P South
Searching for candidate genes in the new millennium.
Clinical and experimental dermatology 2001;26(3):279-83.
2001: Debbie M Hunt; Lisa Rickman; Neil Whittock; Robin A J Eady; D Simrak; Patricia Dopping-Hepenstal; Howard P Stevens; D K B Armstrong; Hans Christian Hennies; Wolfgang Küster; A E Hughes; J Arnemann; Irene M Leigh; John A McGrath; David P Kelsell; Roger S Buxton
Spectrum of dominant mutations in the desmosomal cadherin desmoglein 1, causing the skin disease striate palmoplantar keratoderma.
European journal of human genetics : EJHG 2001;9(3):197-203.
2001: G H S Ashton; P Sorelli; Jemima E Mellerio; FM Keane; Robin A J Eady; John A McGrath
Alpha 6 beta 4 integrin abnormalities in junctional epidermolysis bullosa with pyloric atresia.
The British journal of dermatology 2001;144(2):408-14.
2001: John A McGrath; Pascal Duijf; V Doetsch; Alan D Irvine; R de Waal ; Kaate R J Vanmolkot; Vesarat Wessagowit; A Kelly; David J Atherton; W Andrew Griffiths; S J Orlow; A van Haeringen; M G Ausems; A Yang; Frank McKeon; Michael Bamshad; Han G Brunner; Ben C J Hamel; Hans van Bokhoven
Hay-Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63.
Human molecular genetics 2001;10(3):221-9.
2001: Vesarat Wessagowit; G H S Ashton; R Mohammedi; Julio C Salas-Alanis; Jacqueline E Denyer; Jemima E Mellerio; Robin A J Eady; John A McGrath
Three cases of de novo dominant dystrophic epidermolysis bullosa associated with the mutation G2043R in COL7A1.
Clinical and experimental dermatology 2001;26(1):97-9.
2000: Alan R Thornhill; Susan Pickering; Neil Whittock; J Caller; V Andritsos; H E Bickerstaff; Alan H Handyside; R A Eady; Peter Braude; John A McGrath
Preimplantation genetic diagnosis of compound heterozygous mutations leading to ablation of plakophilin-1 (PKP1) and resulting in skin fragility ectodermal dysplasia syndrome: a case report.
Prenatal diagnosis 2000;20(13):1055-62.
2000: G H S Ashton; Robin A J Eady; John A McGrath
Prenatal diagnosis for inherited skin diseases.
Clinics in dermatology 2000;18(6):643-8.
2000: Neil Whittock; Robin A J Eady; John A McGrath
Genomic organization and amplification of the human plakoglobin gene (JUP).
Experimental dermatology 2000;9(5):323-6.
2000: Neil Whittock; C M Coleman; W H Irwin McLean; G H S Ashton; K M Acland; Robin A J Eady; John A McGrath
The gene for Naegeli-Franceschetti-Jadassohn syndrome maps to 17q21.
The Journal of investigative dermatology 2000;115(4):694-8.
2000: Neil Whittock; Debbie M Hunt; Lisa Rickman; S Malhi; A P Vogazianou; L F Dawson; Robin A J Eady; Roger S Buxton; John A McGrath
Genomic organization and amplification of the human desmosomal cadherin genes DSC1 and DSC3, encoding desmocollin types 1 and 3.
Biochemical and biophysical research communications 2000;276(2):454-60.
2000: Neil Whittock; Marek Haftek; N Angoulvant; F Wolf; Henri Perrot; Robin A J Eady; John A McGrath
Genomic amplification of the human plakophilin 1 gene and detection of a new mutation in ectodermal dysplasia/skin fragility syndrome.
The Journal of investigative dermatology 2000;115(3):368-74.
2000: Neil Whittock; Robin A J Eady; John A McGrath
Genomic organization and amplification of the human epidermal type II keratin genes K1 and K5.
Biochemical and biophysical research communications 2000;274(1):149-52.
2000: Vesarat Wessagowit; Jemima E Mellerio; A C Pembroke; John A McGrath
Heterozygous germline missense mutation in the p63 gene underlying EEC syndrome.
Clinical and experimental dermatology 2000;25(5):441-3.
2000: Julio C Salas-Alanis; M Amaya-Guerra; John A McGrath
The molecular basis of dystrophic epidermolysis bullosa in Mexico.
International journal of dermatology 2000;39(6):436-42.
1999: Neil Whittock; G H S Ashton; Patricia Dopping-Hepenstal; Matthew Gratian; FM Keane; Robin A J Eady; John A McGrath
Striate palmoplantar keratoderma resulting from desmoplakin haploinsufficiency.
The Journal of investigative dermatology 1999;113(6):940-6.
1999: John A McGrath
A novel genodermatosis caused by mutations in plakophilin 1, a structural component of desmosomes.
The Journal of dermatology 1999;26(11):764-9.
1999: Neil Whittock; G H S Ashton; R Mohammedi; Jemima E Mellerio; Christopher G Mathew; Stephen Abbs; Robin A J Eady; John A McGrath
Comparative mutation detection screening of the type VII collagen gene (COL7A1) using the protein truncation test, fluorescent chemical cleavage of mismatch, and conformation sensitive gel electrophoresis.
The Journal of investigative dermatology 1999;113(4):673-86.
1999: John A McGrath; G H S Ashton; Jemima E Mellerio; Julio C Salas-Alanis; Ole Swensson; James R McMillan; Robin A J Eady
Moderation of phenotypic severity in dystrophic and junctional forms of epidermolysis bullosa through in-frame skipping of exons containing non-sense or frameshift mutations.
The Journal of investigative dermatology 1999;113(3):314-21.
1999: Maurice A M van Steensel; Frances J D Smith; Peter M Steijlen; Irma Kluijt; Howard P Stevens; AG Messenger; Hannie Kremer; M G Dunnill; C Kennedy; Colin S Munro; V R Doherty; John A McGrath; Seana P Covello; CM Coleman; Jouni Uitto; W H Irwin McLean
The gene for hypotrichosis of Marie Unna maps between D8S258 and D8S298: exclusion of the hr gene by cDNA and genomic sequencing.
American journal of human genetics 1999;65(2):413-9.
1999: J Frank; John A McGrath; Maureen B Poh-Fitzpatrick; J L Hawk; Angela M Christiano
Mutations in the translation initiation codon of the protoporphyrinogen oxidase gene underlie variegate porphyria.
Clinical and experimental dermatology 1999;24(4):296-301.
1999: Jemima E Mellerio; G H S Ashton; R Mohammedi; calum lyon; B Kirby; K E Harman; Julio C Salas-Alanis; David J Atherton; PV Harrison; W Andrew Griffiths; M M Black; Robin A J Eady; John A McGrath
Allelic heterogeneity of dominant and recessive COL7A1 mutations underlying epidermolysis bullosa pruriginosa.
The Journal of investigative dermatology 1999;112(6):984-7.
1999: John A McGrath
Hereditary diseases of desmosomes.
Journal of dermatological science 1999;20(2):85-91.
1999: G H S Ashton; Jemima E Mellerio; MG Dunnill; G Milana; B J Mayou; J Carrera; John A McGrath; Robin A J Eady
Recurrent molecular abnormalities in type VII collagen in Southern Italian patients with recessive dystrophic epidermolysis bullosa.
Clinical and experimental dermatology 1999;24(3):232-5.
1999: John A McGrath
Dyskeratosis congenita: new clinical and molecular insights into ribosome function.
Lancet 1999;353(9160):1204-5.
1999: Julio C Salas-Alanis; Jemima E Mellerio; G H S Ashton; John A McGrath
Frequency of the CCR5 gene 32-basepair deletion in Hispanic Mexicans.
Clinical and experimental dermatology 1999;24(2):127-9.
1999: John A McGrath; Peter H Hoeger; A M Christiano; James R McMillan; Jemima E Mellerio; G H S Ashton; Patricia Dopping-Hepenstal; BD Lake; Irene M Leigh; John I Harper; Robin A J Eady
Skin fragility and hypohidrotic ectodermal dysplasia resulting from ablation of plakophilin 1.
The British journal of dermatology 1999;140(2):297-307.
1999: Jemima E Mellerio; Julio C Salas-Alanis; M Amaya-Guerra; E Tamez; G H S Ashton; R Mohammedi; Robin A J Eady; John A McGrath
A recurrent frameshift mutation in exon 19 of the type VII collagen gene (COL7A1) in Mexican patients with recessive dystrophic epidermolysis bullosa.
Experimental dermatology 1999;8(1):22-9.
1999: R Mohammedi; Jemima E Mellerio; G H S Ashton; Robin A J Eady; John A McGrath
A recurrent COL7A1 mutation, R2814X, in British patients with recessive dystrophic epidermolysis bullosa.
Clinical and experimental dermatology 1999;24(1):37-9.
1998: Peter B Cserhalmi-Friedman; John A McGrath; J E Mellerio; R Romero; Julio C Salas-Alanis; A S Paller; Harry C Dietz; Angela M Christiano
Restoration of open reading frame resulting from skipping of an exon with an internal deletion in the COL7A1 gene.
Laboratory investigation; a journal of technical methods and pathology 1998;78(12):1483-92.
1998: Jemima E Mellerio; L Pulkkinen; James R McMillan; BD Lake; Helen M Horn; Michael J Tidman; John I Harper; John A McGrath; Jouni Uitto; Robin A J Eady
Pyloric atresia-junctional epidermolysis bullosa syndrome: mutations in the integrin beta4 gene (ITGB4) in two unrelated patients with mild disease.
The British journal of dermatology 1998;139(5):862-71.
1998: Jemima E Mellerio; Julio C Salas-Alanis; M L Talamantes; Helen M Horn; Michael J Tidman; G H S Ashton; Robin A J Eady; John A McGrath
A recurrent glycine substitution mutation, G2043R, in the type VII collagen gene (COL7A1) in dominant dystrophic epidermolysis bullosa.
The British journal of dermatology 1998;139(4):730-7.
1998: Wasim Ahmad; Alan D Irvine; HaMut Lam; C Buckley; EA Bingham; Andrey Panteleyev; M Ahmad; John A McGrath; Angela M Christiano
A missense mutation in the zinc-finger domain of the human hairless gene underlies congenital atrichia in a family of Irish travellers.
American journal of human genetics 1998;63(4):984-91.
1998: Jemima E Mellerio; Robin A J Eady; David J Atherton; BD Lake; John A McGrath
E210K mutation in the gene encoding the beta3 chain of laminin-5 (LAMB3) is predictive of a phenotype of generalized atrophic benign epidermolysis bullosa.
The British journal of dermatology 1998;139(2):325-31.
1998: Julio C Salas-Alanis; Jemima E Mellerio; M Amaya-Guerra; G H S Ashton; Robin A J Eady; John A McGrath
Frameshift mutations in the type VII collagen gene (COL7A1) in five Mexican cousins with recessive dystrophic epidermolysis bullosa.
The British journal of dermatology 1998;138(5):852-8.
1998: Jemima E Mellerio; Jacqueline E Denyer; David J Atherton; Robin A J Eady; John A McGrath
Prognostic implications of determining 180 kDa bullous pemphigoid antigen (BPAG2) gene/protein pathology in neonatal junctional epidermolysis bullosa.
The British journal of dermatology 1998;138(4):661-6.
1998: John A McGrath; A H Handyside
Preimplantation genetic diagnosis of severe inherited skin diseases.
Experimental dermatology 1998;7(2-3):65-72.
1998: James R McMillan; John A McGrath; Michael J Tidman; Robin A J Eady
Hemidesmosomes show abnormal association with the keratin filament network in junctional forms of epidermolysis bullosa.
The Journal of investigative dermatology 1998;110(2):132-7.
1998: Wasim Ahmad; Muhammad Faiyaz-Ul-Haque; V Brancolini; HC Tsou; S ul Haque; HaMut Lam; Vincent M Aita; J Owen; M deBlaquiere; J Frank; Peter B Cserhalmi-Friedman; A Leask; John A McGrath; M Peacocke; M Ahmad; Jurg Ott; Angela M Christiano
Alopecia universalis associated with a mutation in the human hairless gene.
Science (New York, N.Y.) 1998;279(5351):720-4.
1998: John A McGrath; Robin A J Eady
Molecular basis of blistering skin diseases.
Hospital medicine (London, England : 1998) 1998;59(1):28-32.
1998: Laura D Corden; Jemima E Mellerio; Matthew Gratian; Robin A J Eady; John I Harper; M Lacour; Gareth J Magee; E Birgitte Lane; John A McGrath; W H Irwin McLean
Homozygous nonsense mutation in helix 2 of K14 causes severe recessive epidermolysis bullosa simplex.
Human mutation 1998;11(4):279-85.
1997: Jemima E Mellerio; Frances J D Smith; James R McMillan; W H McLean; John A McGrath; G A Morrison; PA Tierney; D M Albert; Gerhard Wiche; I M Leigh; J F Geddes; E Birgitte Lane; J Uitto; Robin A J Eady
Recessive epidermolysis bullosa simplex associated with plectin mutations: infantile respiratory complications in two unrelated cases.
The British journal of dermatology 1997;137(6):898-906.
1997: John A McGrath; James R McMillan; Carrie S Shemanko; Sarah K Runswick; Irene M Leigh; E Birgitte Lane; David R Garrod; Robin A J Eady
Mutations in the plakophilin 1 gene result in ectodermal dysplasia/skin fragility syndrome.
Nature genetics 1997;17(2):240-4.
1997: Akemi Ishida-Yamamoto; John A McGrath; H Lam; Hajime Iizuka; R A Friedman; A M Christiano
The molecular pathology of progressive symmetric erythrokeratoderma: a frameshift mutation in the loricrin gene and perturbations in the cornified cell envelope.
American journal of human genetics 1997;61(3):581-9.
1997: Jemima E Mellerio; MG Dunnill; W Allison; G H S Ashton; A M Christiano; Jouni Uitto; Robin A J Eady; John A McGrath
Recurrent mutations in the type VII collagen gene (COL7A1) in patients with recessive dystrophic epidermolysis bullosa.
The Journal of investigative dermatology 1997;109(2):246-9.
1997: J R McMillan; John A McGrath; L Pulkkinen; A Kon; R E Burgeson; J P Ortonne; G Meneguzzi; Jouni Uitto; Robin A J Eady
Immunohistochemical analysis of the skin in junctional epidermolysis bullosa using laminin 5 chain specific antibodies is of limited value in predicting the underlying gene mutation.
The British journal of dermatology 1997;136(6):817-22.
1997: G H S Ashton; Jemima E Mellerio; MG Dunnill; L Pulkkinen; A M Christiano; Jouni Uitto; Robin A J Eady; John A McGrath
A recurrent laminin 5 mutation in British patients with lethal (Herlitz) junctional epidermolysis bullosa: evidence for a mutational hotspot rather than propagation of an ancestral allele.
The British journal of dermatology 1997;136(5):674-7.
1997: John A McGrath; Robin A J Eady
The role of immunohistochemistry in the diagnosis of the non-lethal forms of junctional epidermolysis bullosa.
Journal of dermatological science 1997;14(1):68-75.