21 results for author:"Whittock N.V." in Literature citations
Results Customize
› Repeat search in UniProtKB (26)
| Mutation of the LUNATIC FRINGE gene in humans causes spondylocostal dysostosis with a severe vertebral phenotype. Sparrow D.B., Chapman G., Wouters M.A., Whittock N.V., Ellard S., Fatkin D., Turnpenny P.D., Kusumi K., Sillence D., Dunwoodie S.L. Am. J. Hum. Genet. 78:28-37(2006) · UniProtKB (1) |
| Defining the pathogenic involvement of desmoglein 4 in pemphigus and staphylococcal scalded skin syndrome. Nagasaka T., Nishifuji K., Ota T., Whittock N.V., Amagai M. J. Clin. Invest. 114:1484-1492(2004) · Mapped (1) |
| Mutated MESP2 causes spondylocostal dysostosis in humans. Whittock N.V., Sparrow D.B., Wouters M.A., Sillence D., Ellard S., Dunwoodie S.L., Turnpenny P.D. Am. J. Hum. Genet. 74:1249-1254(2004) · UniProtKB (2) |
| An unusual N-terminal deletion of the laminin alpha3a isoform leads to the chronic granulation tissue disorder laryngo-onycho-cutaneous syndrome. McLean W.H.I., Irvine A.D., Hamill K.J., Whittock N.V., Coleman-Campbell C.M., Mellerio J.E., Ashton G.S., Dopping-Hepenstal P.J.H., Eady R.A.J., Jamil T. et al. Hum. Mol. Genet. 12:2395-2409(2003) · UniProtKB (2) · Mapped (8) |
| Genomic sequence analysis of the mouse desmoglein cluster reveals evidence for six distinct genes: characterization of mouse DSG4, DSG5, and DSG6. Whittock N.V. J. Invest. Dermatol. 120:970-980(2003) · UniProtKB (5) · Mapped (7) |
| Genetic evidence for a novel human desmosomal cadherin, desmoglein 4. Whittock N.V., Bower C. J. Invest. Dermatol. 120:523-530(2003) · UniProtKB (1) |
| Refined mapping of Naegeli-Franceschetti-Jadassohn syndrome to a 6 cM interval on chromosome 17q11.2-q21 and investigation of candidate genes. Sprecher E., Itin P., Whittock N.V., McGrath J.A., Meyer R., DiGiovanna J.J., Bale S.J., Uitto J., Richard G. J. Invest. Dermatol. 119:692-698(2002) · UniProtKB (1) |
| Defolliculated (dfl): a dominant mouse mutation leading to poor sebaceous gland differentiation and total elimination of pelage follicles. Porter R.M., Jahoda C.A., Lunny D.P., Henderson G., Ross J., McLean W.H., Whittock N.V., Wilson N.J., Reichelt J., Magin T.M. et al. J. Invest. Dermatol. 119:32-37(2002) · Mapped (1) |
| Frameshift mutation in the V2 domain of human keratin 1 results in striate palmoplantar keratoderma. Whittock N.V., Smith F.J., Wan H., Mallipeddi R., Griffiths W.A.D., Dopping-Hepenstal P.J., Ashton G.H.S., Eady R.A.J., McLean W.H.I., McGrath J.A. J. Invest. Dermatol. 118:838-844(2002) · UniProtKB (1) |
| Lipoid proteinosis maps to 1q21 and is caused by mutations in the extracellular matrix protein 1 gene (ECM1). Hamada T., McLean W.H.I., Ramsay M., Ashton G.H.S., Nanda A., Jenkins T., Edelstein I., South A.P., Bleck O., Wessagowit V. et al. Hum. Mol. Genet. 11:833-840(2002) · UniProtKB (1) · Mapped (1) |
| Compound heterozygosity for non-sense and mis-sense mutations in desmoplakin underlies skin fragility/woolly hair syndrome. Whittock N.V., Wan H., Morley S.M., Garzon M.C., Kristal L., Hyde P., McLean W.H.I., Pulkkinen L., Uitto J., Christiano A.M. et al. J. Invest. Dermatol. 118:232-238(2002) · UniProtKB (1) · Mapped (7) |
| 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. Bleck O., Ashton G.H., Mallipeddi R., South A.P., Whittock N.V., McLean W.H., Atherton D.J., McGrath J.A. Arch. Dermatol. Res. 293:392-396(2001) · Mapped (2) |
| New mutations in keratin 1 that cause bullous congenital ichthyosiform erythroderma and keratin 2e that cause ichthyosis bullosa of Siemens. Whittock N.V., Ashton G.H.S., Griffiths W.A.D., Eady R.A.J., McGrath J.A. Br. J. Dermatol. 145:330-335(2001) · UniProtKB (2) |
| Genomic organization, amplification, fine mapping, and intragenic polymorphisms of the human hemidesmosomal tetraspanin CD151 gene. Whittock N.V., McLean W.H.I. Biochem. Biophys. Res. Commun. 281:425-430(2001) · UniProtKB (1) |
| Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma. Norgett E.E., Hatsell S.J., Carvajal-Huerta L., Cabezas J.-C.R., Common J., Purkis P.E., Whittock N.V., Leigh I.M., Stevens H.P., Kelsell D.P. Hum. Mol. Genet. 9:2761-2766(2000) · UniProtKB (1) · Mapped (2) |
| Genomic organization and amplification of the human desmosomal cadherin genes DSC1 and DSC3, encoding desmocollin types 1 and 3. Whittock N.V., Hunt D.M., Rickman L., Malhi S., Vogazianou A.P., Dawson L.F., Eady R.A.J., Buxton R.S., McGrath J.A. Biochem. Biophys. Res. Commun. 276:454-460(2000) · UniProtKB (3) |
| Genomic organization and amplification of the human plakoglobin gene (JUP). Whittock N.V., Eady R.A.J., McGrath J.A. Exp. Dermatol. 9:323-326(2000) · UniProtKB (1) |
| Genomic organization and amplification of the human epidermal type II keratin genes K1 and K5. Whittock N.V., Eady R.A.J., McGrath J.A. Biochem. Biophys. Res. Commun. 274:149-152(2000) · UniProtKB (2) |
| Genomic organization and amplification of the human keratin 15 and 19 genes. Whittock N.V., Eady R.A.J., McGrath J.A. Biochem. Biophys. Res. Commun. 267:462-465(2000) · UniProtKB (2) |
| Striate palmoplantar keratoderma resulting from desmoplakin haploinsufficiency. Whittock N.V., Ashton G.H., Dopping-Hepenstal P.J., Gratian M.J., Keane F.M., Eady R.A.J., McGrath J.A. J. Invest. Dermatol. 113:940-946(1999) · UniProtKB (1) |
| 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. Whittock N.V., Ashton G.H.S., Mohammedi R., Mellerio J.E., Mathew C.G., Abbs S.J., Eady R.A.J., McGrath J.A. J. Invest. Dermatol. 113:673-686(1999) · UniProtKB (1) |