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Your search keyword '"Munro, Colin S"' showing total 8 results
Start Over Author "Munro, Colin S" Publisher oxford university press / usa
8 results on '"Munro, Colin S"'

1. An unusual N-terminal deletion of the laminin α3a isoform leads to the chronic granulation tissue disorder laryngo-onycho-cutaneous syndrome.

Author

McLean, W. H. Irwin, Irvine, Alan D., Hamill, Kevin J., Whittock, Neil V., Coleman-Campbell, Carrie M., Mellerio, Jemima E., Ashton, Gabrielle S., Dopping-Hepenstal, Patricia J. H., Eady, Robin A. J., Jamil, Tanvir, Phillips, Rodney J., Shabbir, S. Ghulam, Haroon, Tahir S., Khurshid, Khawar, Moore, Jonathan E., Page, Brian, Darling, Jonathan, Atherton, David J., van Steensel, Maurice A. M., and Munro, Colin S.

Published
2003
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2. Lipoid proteinosis maps to 1q21 and is caused by mutations in the extracellular matrix protein 1 gene (ECM1).

Author

Hamada, Takahiro, McLean, W. H. Irwin, Ramsay, Michele, Ashton, Gabrielle H. S., Nanda, Arti, Jenkins, Trefor, Edelstein, Isobel, South, Andrew P., Bleck, Oliver, Wessagowit, Vesarat, Mallipeddi, Rajeev, Orchard, Guy E., Wan, Hong, Dopping-Hepenstal, Patricia J. C., Mellerio, Jemima E., Whittock, Neil V., Munro, Colin S., van Steensel, Maurice A. M., Steijlen, Peter M., and Ni, Jian

Published
2002
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3. Hailey-Hailey disease is caused by mutations in ATP2C1 encoding a novel Ca[sup 2+] pump.

Author

Sudbrak, Ralf, Brown, Joanna, Dobson-Stone, Carol, Carter, Simon, Ramser, Juliane, White, Jacqueline, Healy, Eugene, Dissanayake, Manel, Larrègue, Marc, Perrussel, Marc, Lehrach, Hans, Munro, Colin S., Strachan, Tom, Burge, Susan, Hovnanian, Alain, and Monaco, Anthony P.

Abstract

Studies the cause of Hailey-Hailey disease. Mutations in ATP2C1 encoding a novel calcium pump; Description of Hailey-Hailey disease; Identification of the gene ATP2C1; Defective gene in Darier's disease.

Published
2000
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4. ATP2A2 mutations in Darier's disease: variant cutaneous phenotypes are associated with missense mutations, but neuropsychiatric features are independent of mutation class.

Author

Ruiz-Perez, Victor L., Carter, Simon A., Healy, Eugene, Todd, Carole, Rees, Jonathan L., Steijlen, Peter M., Carmichael, Andrew J., Lewis, Helen M., Hohl, D., Itin, Peter, Vahlquist, Anders, Gobello, T., Mazzanti, C., Reggazini, R., Nagy, Gyula, Munro, Colin S., and Strachan, Tom

Abstract

Examines the association between variant cutaneous phenotypes and missense mutations of adenosine triphosphate 2A2 of Darier's disease. Clinical manifestations; Severity of the disease; Distribution of desmosomal components in the matrix; Uptake of cytosolic calcium in the endoplasmic reticulum.

Published
1999
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5. A missense mutation in connexin26, D66H, cases mutilating keratoderma with sensorineural deafness (Vohwinkel's syndrome) in three unrelated families.

Author

Maestrini, Elena, Korge, Bernhard P., Ocana-Sierra, Juan, Calzolari, Elisa, Cambiaghi, Stefano, Scudder, Pat M., Hovnanian, Alain, Monaco, Anthony P., and Munro, Colin S.

Abstract

The multiplicity of functions served by intercellular gap junctions is reflected by the variety of phenotypes caused by mutations in the connexins of which they are composed. Mutations in the connexin26 (Cx26) gene (GJB2) at 13q11-q13 are a major cause of autosomal recessive hearing loss (DFNB1), but have also been reported in autosomal dominant deafness (DFNA3). We now report a Cx26 mutation in three families with mutilating keratoderma and deafness [Vohwinkel's syndrome (VS; MIM 124500), as originally described]. VS is characterized by papular and honeycomb keratoderma associated with constrictions of digits leading to autoamputation, distinctive starfish-like acral keratoses and moderate degrees of deafness. In a large British pedigree, we have mapped the defect to the Cx26 locus. All 10 affected members were heterozygous for a non-conservative mutation, D66H, in Cx26. The same mutation was found subsequently in affected individuals from two unrelated Spanish and Italian pedigrees segregating VS, suggesting that D66H in Cx26 is a common mutation in classical VS. This mutation occurs at a highly conserved residue in the first extracellular domain of the Cx26 molecule, and may exert its effects by interfering with assembly into connexons, docking with adjacent cells or gating properties of the gap junction. Our results provide evidence that a specific mutation in Cx26 can impair epidermal differentiation, as well as inner ear function. [ABSTRACT FROM AUTHOR]

Published
1999
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8. An unusual N-terminal deletion of the laminin α3a isoform leads to the chronic granulation tissue disorder laryngo-onycho-cutaneous syndrome.

Author

McLean, W. H. Irwin, Irvine, Alan D., Hamill, Kevin J., Whittock, Neil V., Coleman-Campbell, Carrie M., Mellerio, Jemima E., Ashton, Gabrielle S., Dopping-Hepenstal, Patricia J. H., Eady, Robin A. J., Jamil, Tanvir, Phillips, Roderic J., Shabbir, S. Ghulam, Haroon, Tahir S., Khurshid, Khawar, Moore, Jonathan E., Page, Brian, Darling, Jonathan, Atherton, David J., van Steensel, Maurice A. M., and Munro, Colin S.

Published
2004

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