1 - 25 of 101 results for author:"McGrath J.A." in Literature citations
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| Germline Mutation in EXPH5 Implicates the Rab27B Effector Protein Slac2-b in Inherited Skin Fragility. McGrath J.A., Stone K.L., Begum R., Simpson M.A., Dopping-Hepenstal P.J., Liu L., McMillan J.R., South A.P., Pourreyron C., McLean W.H. et al. Am. J. Hum. Genet. 91:1115-1121(2012) · Mapped (5) |
| Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma. Pohler E., Mamai O., Hirst J., Zamiri M., Horn H., Nomura T., Irvine A.D., Moran B., Wilson N.J., Smith F.J. et al. Nat. Genet. 44:1272-1276(2012) · UniProtKB (1) |
| 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. Br. J. Dermatol. 167:440-442(2012) · UniProtKB (1) |
| 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. Clin. Exp. Dermatol. 37:631-634(2012) · Mapped (2) |
| Germline 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. et al. Am. J. Hum. Genet. 90:511-517(2012) · UniProtKB (1) |
| 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. Br. J. Dermatol. 167:134-144(2012) · Mapped (4) |
| Novel and recurrent COL7A1 mutations in Chilean patients with dystrophic epidermolysis bullosa. Rodriguez F.A., Gana M.J., Yubero M.J., Zillmann G., Kramer S.M., Catalan J., Rubio-Astudillo J., Gonzalez S., Liu L., Ozoemena L. et al. J. Dermatol. Sci. 65:149-152(2012) · Mapped (2) |
| Limbal stem cell deficiency and ocular phenotype in ectrodactyly-ectodermal dysplasia-clefting syndrome caused by p63 mutations. Di Iorio E., Kaye S.B., Ponzin D., Barbaro V., Ferrari S., Bohm E., Nardiello P., Castaldo G., McGrath J.A., Willoughby C.E. Ophthalmology 119:74-83(2012) · Mapped (4) |
| Integrative mRNA profiling comparing cultured primary cells with clinical samples reveals PLK1 and C20orf20 as therapeutic targets in cutaneous squamous cell carcinoma. Watt S.A., Pourreyron C., Purdie K., Hogan C., Cole C.L., Foster N., Pratt N., Bourdon J.C., Appleyard V., Murray K. et al. Oncogene 30:4666-4677(2011) · Mapped (2) |
| 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. Clin. Exp. Dermatol. 36:412-415(2011) · Mapped (3) |
| Linkage analysis of plasma dopamine beta-hydroxylase activity in families of patients with schizophrenia. Cubells J.F., Sun X., Li W., Bonsall R.W., McGrath J.A., Avramopoulos D., Lasseter V.K., Wolyniec P.S., Tang Y.L., Mercer K. et al. Hum. Genet. 130:635-643(2011) · Mapped (1) |
| PDGFRalpha-positive cells in bone marrow are mobilized by high mobility group box 1 (HMGB1) to regenerate injured epithelia. Tamai K., Yamazaki T., Chino T., Ishii M., Otsuru S., Kikuchi Y., Iinuma S., Saga K., Nimura K., Shimbo T. et al. Proc. Natl. Acad. Sci. U.S.A. 108:6609-6614(2011) · Mapped (15) |
| 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., Lai-Cheong J.E., Wong A., Nanda A., Moss C., Martinez A.E., Mellerio J.E., McGrath J.A. Acta Derm. Venereol. 91:262-266(2011) · Mapped (2) |
| Molecular and neurological characterizations of three Saudi families with lipoid proteinosis. Salih M.A., Abu-Amero K.K., Alrasheed S., Alorainy I.A., Liu L., McGrath J.A., Van Maldergem L., Al-Faky Y.H., AlSuhaibani A.H., Oystreck D.T. et al. BMC Med. Genet. 12:31-31(2011) · Mapped (2) |
| 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. et al. Acta Derm. Venereol. 91:267-270(2011) · Mapped (5) |
| Intra-familial variability of ectodermal defects associated with WNT10A mutations. Wedgeworth E.K., Nagy N., White J.M., Pembroke A.C., McGrath J.A. Acta Derm. Venereol. 91:346-347(2011) · Mapped (3) |
| The inversa type of recessive dystrophic epidermolysis bullosa is caused by specific arginine and glycine substitutions in type VII collagen. van den Akker P.C., Mellerio J.E., Martinez A.E., Liu L., Meijer R., Dopping-Hepenstal P.J., van Essen A.J., Scheffer H., Hofstra R.M., McGrath J.A. et al. J. Med. Genet. 48:160-167(2011) · Mapped (2) |
| Common IL-31 gene haplotype associated with non-atopic eczema is not implicated in epidermolysis bullosa pruriginosa. Nagy N., Tanaka A., Techanukul T., McGrath J.A. Acta Derm. Venereol. 90:631-632(2010) · Mapped (1) |
| Microdeletions of 3q29 confer high risk for schizophrenia. Mulle J.G., Dodd A.F., McGrath J.A., Wolyniec P.S., Mitchell A.A., Shetty A.C., Sobreira N.L., Valle D., Rudd M.K., Satten G. et al. Am. J. Hum. Genet. 87:229-236(2010) · Mapped (8) |
| 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., van Voorst Vader P.C., Clements S.E., Almaani N., Techanukul T. et al. Exp. Dermatol. 19:416-423(2010) · Mapped (2) |
| 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., Afifi H.H., Clements S.E., Lai-Cheong J.E., Amr K., El-Darouti M., McGrath J.A. Br. J. Dermatol. 163:213-215(2010) · Mapped (3) |
| Homozygous mutations in the 5' region of the JUP gene result in cutaneous disease but normal heart development in children. Cabral R.M., Liu L., Hogan C., Dopping-Hepenstal P.J., Winik B.C., Asial R.A., Dobson R., Mein C.A., Baselaga P.A., Mellerio J.E. et al. J. Invest. Dermatol. 130:1543-1550(2010) · Mapped (2) |
| Lethal acantholytic epidermolysis bullosa. McGrath J.A., Bolling M.C., Jonkman M.F. Dermatol Clin 28:131-135(2010) · Mapped (8) |
| Ectodermal dysplasia-skin fragility syndrome. McGrath J.A., Mellerio J.E. Dermatol Clin 28:125-129(2010) · Mapped (3) |
| 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. Clements S.E., Techanukul T., Coman D., Mellerio J.E., McGrath J.A. Br. J. Dermatol. 162:201-207(2010) · Mapped (4) |