G. Ashton

发表

Loss of Apc allows phenotypic manifestation of the transforming properties of an endogenous K-ras oncogene in vivo

Julie A. Wilkins, M. Barbacid, A. Cole, 2006, Proceedings of the National Academy of Sciences.

Complete paternal uniparental isodisomy of chromosome 1 resulting in Herlitz junctional epidermolysis bullosa

J. McGrath, H. Fassihi, J. Mellerio, 2005, Clincal and Experimental Dermatology.

Fish odour syndrome with features of both primary and secondary trimethylaminuria

J. McGrath, N. Manning, E. Fraser-Andrews, 2003, Clinical and experimental dermatology.

Recurrent mutations in kindlin-1, a novel keratinocyte focal contact protein, in the autosomal recessive skin fragility and photosensitivity disorder, Kindler syndrome.

J. McGrath, I. Leigh, R. Eady, 2004, The Journal of investigative dermatology.

New mutations in keratin 1 that cause bullous congenital ichthyosiform erythroderma and keratin 2e that cause ichthyosis bullosa of Siemens

J. McGrath, N. Whittock, R. Eady, 2001, The British journal of dermatology.

α6β4 integrin abnormalities in junctional epidermolysis bullosa with pyloric atresia

J. McGrath, R. Eady, J. Mellerio, 2001 .

Genotype–phenotype correlation in skin fragility‐ectodermal dysplasia syndrome resulting from mutations in plakophilin 1

J. McGrath, R. Eady, T. Hashimoto, 2002, Experimental dermatology.

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.

C. Mathew, J. McGrath, N. Whittock, 1999, The Journal of investigative dermatology.

Allelic heterogeneity of dominant and recessive COL7A1 mutations underlying epidermolysis bullosa pruriginosa.

J. McGrath, R. Eady, J. Mellerio, 1999, The Journal of investigative dermatology.

A novel Src kinase inhibitor reduces tumour formation in a skin carcinogenesis model.

O. Sansom, V. Brunton, M. Frame, 2009, Carcinogenesis.

Prenatal diagnosis for inherited skin diseases.

J. McGrath, R. Eady, G. Ashton, 2000, Clinics in dermatology.

Dilemmas in distinguishing between dominant and recessive forms of dystrophic epidermolysis bullosa

J. McGrath, R. Eady, J. Mellerio, 2003, The British journal of dermatology.

Three cases of de novo dominant dystrophic epidermolysis bullosa associated with the mutation G2043R in COL7A1

J. McGrath, R. Eady, J. Mellerio, 2001, Clinical and experimental dermatology.

Prenatal diagnosis for severe inherited skin disorders: 25 years' experience

K. Nicolaides, C. Rodeck, K. Nicolaides, 2006, The British journal of dermatology.

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

J. Uitto, J. McGrath, L. Pulkkinen, 1997, The British journal of dermatology.

Moderation of phenotypic severity in dystrophic and junctional forms of epidermolysis bullosa through in-frame skipping of exons containing non-sense or frameshift mutations.

J. R. McMillan, J. McGrath, R. Eady, 1999, The Journal of investigative dermatology.

Frameshift mutation in the V2 domain of human keratin 1 results in striate palmoplantar keratoderma.

J. McGrath, N. Whittock, R. Eady, 2002, The Journal of investigative dermatology.

Focal adhesion kinase is required for intestinal regeneration and tumorigenesis downstream of Wnt/c-Myc signaling.

Julie A. Wilkins, R. Sears, H. Clevers, 2010, Developmental cell.

Identification of potential biomarkers for measuring inhibition of Src kinase activity in colon cancer cells following treatment with dasatinib

O. Sansom, F. Lee, V. Brunton, 2006, Molecular Cancer Therapeutics.

Lipoid proteinosis maps to 1q21 and is caused by mutations in the extracellular matrix protein 1 gene (ECM1).

M. Ramsay, T. Jenkins, J. McGrath, 2002, Human molecular genetics.

Molecular basis of Kindler syndrome in Italy: novel and recurrent Alu/Alu recombination, splice site, nonsense, and frameshift mutations in the KIND1 gene.

J. McGrath, C. Has, G. Zambruno, 2006, The Journal of investigative dermatology.

EEC (Ectrodactyly, Ectodermal dysplasia, Clefting) syndrome: heterozygous mutation in the p63 gene (R279H) and DNA‐based prenatal diagnosis

J. McGrath, C. Willoughby, R. Eady, 2002, The British journal of dermatology.

Human Ro60 (SSA2) genomic organization and sequence alterations, examined in cutaneous lupus erythematosus

R. Vaughan, J. McGregor, M. Khamashta, 2002, The British journal of dermatology.

Loss of kindlin-1, a human homolog of the Caenorhabditis elegans actin-extracellular-matrix linker protein UNC-112, causes Kindler syndrome.

H. Feiler, E. Fuchs, A. Prescott, 2003, American journal of human genetics.

A recurrent frameshift mutation in exon 19 of the type VII collagen gene (COL7A1) in Mexican patients with recessive dystrophic epidermolysis bullosa

J. McGrath, R. Eady, J. Mellerio, 1999, Experimental dermatology.

Striate palmoplantar keratoderma resulting from desmoplakin haploinsufficiency.

J. McGrath, N. Whittock, R. Eady, 1999, The Journal of investigative dermatology.

Prenatal diagnosis of Herlitz junctional epidermolysis bullosa in nonidentical twins

H. Fassihi, J. Mellerio, G. Mason, 2005, Clinical and experimental dermatology.

Alpha 6 beta 4 integrin abnormalities in junctional epidermolysis bullosa with pyloric atresia.

J. McGrath, R. Eady, J. Mellerio, 2001, The British journal of dermatology.

Retrospective diagnosis of Kindler syndrome in a 37‐year‐old man

C. Moss, G. Ashton, M. A. Thomson, 2006, Clinical and experimental dermatology.

Kindler syndrome

G. Ashton, 2004, Clinical and experimental dermatology.

An Indian child with Kindler syndrome resulting from a new homozygous nonsense mutation (C468X) in the KIND1 gene

J. McGrath, M. Kabra, H. Fassihi, 2005, Clinical and experimental dermatology.

Recurrent mutations in the type VII collagen gene (COL7A1) in patients with recessive dystrophic epidermolysis bullosa.

J. Uitto, J. McGrath, A. Christiano, 1997, The Journal of investigative dermatology.

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

J. McGrath, N. Whittock, R. Mallipeddi, 2001, Archives of Dermatological Research.

Extracellular matrix protein 1 gene (ECM1) mutations in lipoid proteinosis and genotype-phenotype correlation.

Hiroshi Shimizu, Takahiro Hamada, Takashi Hashimoto, 2003, The Journal of investigative dermatology.

The gene for Naegeli-Franceschetti-Jadassohn syndrome maps to 17q21.

J. McGrath, N. Whittock, R. Eady, 2000, The Journal of investigative dermatology.

Strategies to identify disease genes.

J. McGrath, A. South, G. Ashton, 2002, Drugs of today.