Search Results - "Munro, Colin S"

Mutations in AQP5, Encoding a Water-Channel Protein, Cause Autosomal-Dominant Diffuse Nonepidermolytic Palmoplantar Keratoderma by Blaydon, Diana C., Lind, Lisbet K., Plagnol, Vincent, Linton, Kenneth J., Smith, Francis J.D., Wilson, Neil J., McLean, W.H. Irwin, Munro, Colin S., South, Andrew P., Leigh, Irene M., O’Toole, Edel A., Lundström, Anita, Kelsell, David P.

“…Autosomal-dominant diffuse nonepidermolytic palmoplantar keratoderma is characterized by the adoption of a white, spongy appearance of affected areas upon…”
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Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris by McLean, W H Irwin, Smith, Frances J D, Irvine, Alan D, Terron-Kwiatkowski, Ana, Sandilands, Aileen, Campbell, Linda E, Zhao, Yiwei, Liao, Haihui, Evans, Alan T, Goudie, David R, Lewis-Jones, Sue, Arseculeratne, Gehan, Munro, Colin S, Sergeant, Ann, O'Regan, Gráinne, Bale, Sherri J, Compton, John G, DiGiovanna, John J, Presland, Richard B, Fleckman, Philip

“…Ichthyosis vulgaris (OMIM 146700) is the most common inherited disorder of keratinization and one of the most frequent single-gene disorders in humans. The…”
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Clinical and pathological features of pachyonychia congenita by Leachman, Sancy A, Kaspar, Roger L, Fleckman, Philip, Florell, Scott R, Smith, Frances J D, McLean, W H Irwin, Lunny, Declan P, Milstone, Leonard M, van Steensel, Maurice A M, Munro, Colin S, O'Toole, Edel A, Celebi, Julide T, Kansky, Aleksej, Lane, E Birgitte

“…Pachyonychia congenita (PC) is a rare genodermatosis affecting the nails, skin, oral mucosae, larynx, hair, and teeth. Pathogenic mutations in keratins K6a or…”
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Novel ATP2A2 mutations in a large sample of individuals with Darier disease by Green, Elaine K., Gordon-Smith, Katherine, Burge, Susan M., Grozeva, Detelina, Munro, Colin S., Tavadia, Sherine, Jones, Lisa, Craddock, Nicholoas

“…Darier disease (DD) is a rare autosomal dominantly inherited skin disorder caused by mutations in ATP2A2, which is expressed in both the skin and the brain and…”
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trans-dominant inhibition of connexin-43 by mutant connexin-26: implications for dominant connexin disorders affecting epidermal differentiation by Rouan, F, White, T W, Brown, N, Taylor, A M, Lucke, T W, Paul, D L, Munro, C S, Uitto, J, Hodgins, M B, Richard, G

“…Dominant mutations of GJB2-encoding connexin-26 (Cx26) have pleiotropic effects, causing either hearing impairment (HI) alone or in association with…”
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The genetic basis of pachyonychia congenita by Smith, Frances J D, Liao, Haihui, Cassidy, Andrew J, Stewart, Arlene, Hamill, Kevin J, Wood, Pamela, Joval, Iris, van Steensel, Maurice A M, Björck, Erik, Callif-Daley, Faith, Pals, Gerald, Collins, Paul, Leachman, Sancy A, Munro, Colin S, McLean, W H Irwin

“…In 1994, the molecular basis of pachyonychia congenita (PC) was elucidated. Four keratin genes are associated with the major subtypes of PC: K6a or K16 defects…”
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Hailey-Hailey Disease: Molecular and Clinical Characterization of Novel Mutations in the ATP2C1 Gene by Dobson-Stone, Carol, Fairclough, Rebecca, Dunne, Eimear, Brown, Joanna, Monaco, Anthony P., Hovnanian, Alain, Dissanayake, Manel, Munro, Colin S., Strachan, Tom, Burge, Susan, Sudbrak, Ralf

“…Hailey-Hailey disease is an autosomal dominant skin disorder characterized by suprabasal cell separation (acantholysis) of the epidermis. Mutations in ATP2C1,…”
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Heterozygous Null Alleles in Filaggrin Contribute to Clinical Dry Skin in Young Adults and the Elderly by Sergeant, Ann, Campbell, Linda E., Hull, Peter R., Porter, Martin, Palmer, Colin N.A., Smith, Frances J.D., McLean, W H Irwin, Munro, Colin S.

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Hailey–Hailey Disease: Identification of Novel Mutations in ATP2C1 and Effect of Missense Mutation A528P on Protein Expression Levels by Fairclough, Rebecca J., Lonie, Lorne, Van Baelen, Kurt, Haftek, Marek, Munro, Colin S., Burge, Susan M., Hovnanian, Alain

“…ATP2C1, encoding the human secretory pathway Ca2+-ATPase (hSPCA1), was recently identified as the defective gene in Hailey–Hailey disease (HHD), an autosomal…”
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Comprehensive analysis of the gene encoding filaggrin uncovers prevalent and rare mutations in ichthyosis vulgaris and atopic eczema by van Steensel, Maurice A M, Hull, Peter R, Palmer, Colin N A, Clayton, Timothy H, Sandilands, Aileen, Evans, Alan T, Bradley, Daniel G, Nagtzaam, Ivo, Campbell, Linda E, Terron-Kwiatkowski, Ana, Carrick, Thomas, Irvine, Alan D, Liao, Haihui, O'Regan, Gráinne M, Steijlen, Peter M, Gruber, Robert, Watson, Rosemarie M, Elias, Peter M, Schmuth, Matthias, McLean, W H Irwin, van Geel, Michel, Munro, Colin S, Smith, Frances J D, Zhao, Yiwei, Janecke, Andreas R

“…We recently reported two common filaggrin (FLG) null mutations that cause ichthyosis vulgaris and predispose to eczema and secondary allergic diseases. We show…”
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Novel and Recurrent Mutations in the Genes Encoding Keratins K6a, K16 and K17 in 13 Cases of Pachyonychia Congenita by Terrinoni, Alessandro, Smith, Frances J.D., Didona, Biagio, Canzona, Flora, Paradisi, Mauro, Huber, Marcel, Hohl, Daniel, David, Albert, Verloes, Alain, Leigh, Irene M., Munro, Colin S., Melino, Gerry, McLean, W.H. Irwin

“…Thirteen patients with pachyonychia congenita types 1 and 2 were studied, two of which had a family history of pachyonychia and 11 of which were sporadic…”
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Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma by Pohler, Elizabeth, Mamai, Ons, Hirst, Jennifer, Zamiri, Mozheh, Horn, Helen, Nomura, Toshifumi, Irvine, Alan D, Moran, Benvon, Wilson, Neil J, Smith, Frances J D, Goh, Christabelle S M, Sandilands, Aileen, Cole, Christian, Barton, Geoffrey J, Evans, Alan T, Shimizu, Hiroshi, Akiyama, Masashi, Suehiro, Mitsuhiro, Konohana, Izumi, Shboul, Mohammad, Teissier, Sebastien, Boussofara, Lobna, Denguezli, Mohamed, Saad, Ali, Gribaa, Moez, Dopping-Hepenstal, Patricia J, McGrath, John A, Brown, Sara J, Goudie, David R, Reversade, Bruno, Munro, Colin S, McLean, W H Irwin

“…Irwin McLean and colleagues report that heterozygous loss-of-function mutations in AAGAB , which encodes a cytosolic protein implicated in vesicular…”
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Early Death from Cardiomyopathy in a Family with Autosomal Dominant Striate Palmoplantar Keratoderma and Woolly Hair Associated with a Novel Insertion Mutation in Desmoplakin by Norgett, Elizabeth E., Lucke, Tom W., Bowers, Bill, Munro, Colin S., Leigh, Irene M., Kelsell, David P.

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Mutations in ATP2A2, encoding a Ca2+ pump, cause Darier disease by SAKUNTABHAI, A, RUIZ-PEREZ, V, KUCHERLAPATI, R, REES, J. L, OWEN, M, LATHROP, G. M, MONACO, A. P, STRACHAN, T, HOVNANIAN, A, CARTER, S, JACOBSEN, N, BURGE, S, MONK, S, SMITH, M, MUNRO, C. S, O'DONOVAN, M, CRADDOCK, N

“…Darier disease (DD) is an autosomal-dominant skin disorder characterized by loss of adhesion between epidermal cells (acantholysis) and abnormal…”
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Molecular genetics of the skin: the implications of understanding by Munro, Colin S

“…During recent decades, discoveries in genetic skin disease have produced insights into the biology of the skin, and in some cases permitted preventive prenatal…”
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A Missense Mutation in Connexin26, D66H, Causes Mutilating Keratoderma with Sensorineural Deafness (Vohwinkel's Syndrome) in Three Unrelated Families by Maestrini, Elena, Korge, Bernhard P., Ocaña-Sierra, Juan, Calzolari, Elisa, Cambiaghi, Stefano, Scudder, Pat M., Hovnanian, Alain, Monaco, Anthony P., Munro, Colin S.

“…The multiplicity of functions served by intercellular gap junctions is reflected by the variety of phenotypes caused by mutations in the connexins of which…”
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Mutations in the SASPase Gene (ASPRV1) Are Not Associated with Atopic Eczema or Clinically Dry Skin by Sandilands, Aileen, Brown, Sara J., Goh, Christabelle S., Pohler, Elizabeth, Wilson, Neil J., Campbell, Linda E., Miyamoto, Kenichi, Kubo, Akiharu, Irvine, Alan D., Thawer-Esmail, Fatema, Munro, Colin S., Irwin McLean, W.H., Kudoh, Jun, Amagai, Masayuki, Matsui, Takeshi

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Filaggrin Null Mutations Are Not a Protective Factor for Acne Vulgaris by Common, John E.A., Brown, Sara J., Haines, Rebecca L., Goh, Christabelle S.M., Chen, Huijia, Balakrishnan, Anita, Munro, Colin S., Tan, Audrey W.H., Tan, H.H., Tang, Mark B.Y., Lane, E. Birgitte

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Mutations in the AAGAB gene, encoding alpha- and gamma-adaptin binding protein p34, cause punctate palmoplantar keratoderma type 1 by Pohler, Elizabeth, Nomura, Toshifumi, Akiyama, Masashi, Suehiro, Akihiro, Shimizu, Hiroshi, Mamai, Ons, Zamiri, Mozheh, Horn, Helen, Irvine, Alan D, Hirst, Jennifer, Robinson, Margaret S, McGrath, John A, Munro, Colin S, McLean, W.H. Irwin

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ATP2A2 mutations in Darier's disease: variant cutaneous phenotypes are associated with missense mutations, but neuropsychiatric features are independent of mutation class by RUIZ-PEREZ, V. L, CARTER, S. A, VAHLQUIST, A, GOBELLO, T, MAZZANTI, C, REGGAZINI, R, NAGY, G, MUNRO, C. S, STRACHAN, T, HEALY, E, TODD, C, REES, J. L, STEIJLEN, P. M, CARMICHAEL, A. J, LEWIS, H. M, HOHL, D, ITIN, P

“…Darier's disease (DD) is an autosomal dominant skin disorder characterized clinically by multiple keratotic papules, and histologically by focal loss of…”
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