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Comprehensive analysis of the gene encoding filaggrin uncovers prevalent and rare mutations in ichthyosis vulgaris and atopic eczema.
Published in:
Nature Genetics, 2007, v. 39, n. 5, p. 650, doi. 10.1038/ng2020
By:
- Sandilands, Aileen;
- Terron-Kwiatkowski, Ana;
- Hull, Peter R.;
- O'Regan, Gráinne M;
- Clayton, Timothy H.;
- Watson, Rosemarie M.;
- Carrick, Thomas;
- Evans, Alan T.;
- Haihui Liao;
- Yiwei Zhao;
- Campbell, Linda E.;
- Schmuth, Matthias;
- Gruber, Robert;
- Janecke, Andreas R.;
- Peter M. Elias;
- van Steensel, Maurice A. M.;
- Nagtzaam, Ivo;
- van Geel, Michel;
- Steijlen, Peter M.;
- Munro, Colin S.
Publication type:
Article
Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris.
Published in:
Nature Genetics, 2006, v. 38, n. 3, p. 337, doi. 10.1038/ng1743
By:
- Smith, Frances J. D.;
- Irvine, Alan D.;
- Terron-Kwiatkowski, Ana;
- Sandilands, Aileen;
- Campbell, Linda E.;
- Yiwei Zhao;
- Haihui Liao;
- 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;
- McLean, W. H. Irwin
Publication type:
Article
Connexin mutations associated with palmoplantar keratoderma and profound deafness in a single family.
Published in:
2000
By:
- Kelsell, David P;
- Wilgoss, Amanda L;
- Richard, Gabriela;
- Stevens, Howard P;
- Munro, Colin S;
- Leigh, Irene M
Publication type:
Correction Notice
Connexin mutations associated with palmoplantar keratoderma and profound deafness in a single family.
Published in:
European Journal of Human Genetics, 2000, v. 8, n. 2, p. 141, doi. 10.1038/sj.ejhg.5200407
By:
- Kelsell, David P;
- Wilgoss, Amanda L;
- Richard, Gabriela;
- Stevens, Howard P;
- Munro, Colin S;
- Leigh, Irene M
Publication type:
Article
Occupational contact dermatitis from triglycidyl isocyanurate in a powder paint factory.
Published in:
Contact Dermatitis (01051873), 1992, v. 26, n. 1, p. 59, doi. 10.1111/j.1600-0536.1992.tb00877.x
By:
- Munro, Colin S.;
- Lawrence, Clifford M.
Publication type:
Article
Mutations in the SASPase Gene (ASPRV1) Are Not Associated with Atopic Eczema or Clinically Dry Skin.
Published in:
Journal of Investigative Dermatology, 2012, v. 132, n. 5, p. 1507, doi. 10.1038/jid.2011.479
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;
- McLean, W H Irwin;
- Kudoh, Jun;
- Amagai, Masayuki;
- Matsui, Takeshi
Publication type:
Article
Filaggrin Null Mutations Are Not a Protective Factor for Acne Vulgaris.
Published in:
2011
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
Publication type:
Letter
Heterozygous Null Alleles in Filaggrin Contribute to Clinical Dry Skin in Young Adults and the Elderly.
Published in:
2009
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.
Publication type:
Letter
Early Death from Cardiomyopathy in a Family with Autosomal Dominant Striate Palmoplantar Keratoderma and Woolly Hair Associated with a Novel Insertion Mutation in Desmoplakin.
Published in:
2006
By:
- Norgett, Elizabeth E;
- Lucke, Tom W;
- Bowers, Bill;
- Munro, Colin S;
- Leigh, Irene M;
- Kelsell, David P
Publication type:
Letter
Hailey-Hailey Disease: Molecular and Clinical Characterization of Novel Mutations in the ATP2C1 Gene.
Published in:
Journal of Investigative Dermatology, 2002, v. 118, n. 2, p. 338, doi. 10.1046/j.0022-202x.2001.01675.x
By:
- Dobson-Stone, Carol;
- Fairclough, Rebecca;
- Dunne, Eimear;
- Brown, Joanna;
- Dissanayake, Manel;
- Munro, Colin S;
- Strachan, Tom;
- Burge, Susan;
- Sudbrak, Ralf;
- Monaco, Anthony P;
- Hovnanian, Alain
Publication type:
Article
Novel and Recurrent Mutations in the Genes Encoding Keratins K6a, K16 and K17 in 13 Cases of Pachyonychia Congenita.
Published in:
Journal of Investigative Dermatology, 2001, v. 117, n. 6, p. 1391, doi. 10.1046/j.0022-202X.2001.01565.x
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
Publication type:
Article
Mutant Loricrin is Not Crosslinked into the Cornified Cell Envelope but is Translocated into the Nucleus in Loricrin Keratoderma.
Published in:
Journal of Investigative Dermatology, 2000, v. 115, n. 6, p. 1088, doi. 10.1046/j.1523-1747.2000.00163.x
By:
- Ishida-Yamamoto, Akemi;
- Kato, Hidemasa;
- Kiyama, Hiroshi;
- Armstrong, D. Keith B.;
- Munro, Colin S.;
- Eady, Robin A. J.;
- Nakamura, Satoshi;
- Kinouchi, Motoshi;
- Takahashi, Hidetoshi;
- Iizuka, Hajime
Publication type:
Article
Identification of Novel Mutations in Basic Hair Keratins hHb1 and hHb6 in Monilethrix: Implications for Protein Structure and Clinical Phenotype.
Published in:
Journal of Investigative Dermatology, 1999, v. 113, n. 4, p. 607, doi. 10.1046/j.1523-1747.1999.00722.x
By:
- Korge, Bernhard P.;
- Hamm, Henning;
- Jury, Catherine S.;
- Traupe, Heiko;
- Irvine, Alan D.;
- Healy, Eugene;
- Birch-Machin, Mark;
- Rees, Jonathan L.;
- Messenger, Andrew G.;
- Holmes, Susan C.;
- Parry, David A. D.;
- Munro, Colin S.
Publication type:
Article
Mutations in Keratin K9 in Kindreds with Epidermolytic Palmoplantar Keratoderma and Epidemiology in Northern Ireland.
Published in:
Journal of Investigative Dermatology, 1998, v. 111, n. 6, p. 1207, doi. 10.1046/j.1523-1747.1998.00445.x
By:
- Covello, Seana P.;
- Irvine, Alan D.;
- McKenna, Kevin E.;
- Munro, Colin S.;
- Nevin, Norman C.;
- Smith, Frances J. D.;
- Uitto, Jouni;
- McLean, W. H. Irwin
Publication type:
Article
A Mutational Hotspot in the 2B Domain of Human Hair Basic Keratin 6 (hHb6) in Monilethrix Patients.
Published in:
Journal of Investigative Dermatology, 1998, v. 111, n. 5, p. 896, doi. 10.1046/j.1523-1747.1998.00362.x
By:
- Korge, Bernhard P.;
- Healy, Eugene;
- Munro, Colin S.;
- Pünter, Claudia;
- Birch-Machin, Mark;
- Holmes, Susan C.;
- Darlington, Silke;
- Hamm, Henning;
- Messenger, Andrew G.;
- Rees, Jonathan L.;
- Traupe, Heiko
Publication type:
Article
Loricrin Mutation in Vohwinkel's Keratoderma Is Unique to the Variant with Ichthyosis.
Published in:
Journal of Investigative Dermatology, 1997, v. 109, n. 4, p. 604, doi. 10.1111/1523-1747.ep12337534
By:
- Korge, Bernhard P.;
- Ishida-Yamamoto, Akemi;
- Pünter, Claudia;
- Dopping-Hepenstal, Patricia J. C.;
- Iizuka, Hajime;
- Stephenson, Anthea;
- Eady, Robin A. J.;
- Munro, Colin S.
Publication type:
Article
Missense Mutations in Keratin 17 Cause Either Pachyonychia Congenita Type 2 or a Phenotype Resembling Steatocystoma Multiplex.
Published in:
1997
By:
- Smith, Frances J. D.;
- Corden, Laura D.;
- Rugg, Elizabeth L.;
- Ratnavel, Ravi;
- Leigh, Irene M.;
- Moss, Celia;
- Tidman, Michael J.;
- Hohl, Daniel;
- Huber, Marcel;
- Kunkeler, Lia;
- Munro, Colin S.;
- Lane, E. Birgitte;
- McLean, W. H. Irwin
Publication type:
Report
Novel ATP2A2 mutations in a large sample of individuals with Darier disease.
Published in:
Journal of Dermatology, 2013, v. 40, n. 4, p. 259, doi. 10.1111/1346-8138.12082
By:
- Green, Elaine K.;
- Gordon‐Smith, Katherine;
- Burge, Susan M.;
- Grozeva, Detelina;
- Munro, Colin S.;
- Tavadia, Sherine;
- Jones, Lisa;
- Craddock, Nicholoas
Publication type:
Article
An unusual N-terminal deletion of the laminin α3a isoform leads to the chronic granulation tissue disorder laryngo-onycho-cutaneous syndrome.
Published in:
Human Molecular Genetics, 2004, v. 13, n. 3, p. 365
By:
- 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.;
- Munro, Colin S.
Publication type:
Article
An unusual N-terminal deletion of the laminin α3a isoform leads to the chronic granulation tissue disorder laryngo-onycho-cutaneous syndrome.
Published in:
Human Molecular Genetics, 2003, v. 12, n. 18, p. 2395, doi. 10.1093/hmg/ddg234
By:
- 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.;
- Munro, Colin S.
Publication type:
Article
Lipoid proteinosis maps to 1q21 and is caused by mutations in the extracellular matrix protein 1 gene (ECM1).
Published in:
Human Molecular Genetics, 2002, v. 11, n. 7, p. 833, doi. 10.1093/hmg/11.7.833
By:
- 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.;
- Ni, Jian
Publication type:
Article
Hailey-Hailey disease is caused by mutations in ATP2C1 encoding a novel Ca[sup 2+] pump.
Published in:
Human Molecular Genetics, 2000, v. 9, n. 7, p. 1131, doi. 10.1093/hmg/9.7.1131
By:
- 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;
- Monaco, Anthony P.
Publication type:
Article
ATP2A2 mutations in Darier's disease: variant cutaneous phenotypes are associated with missense mutations, but neuropsychiatric features are independent of mutation class.
Published in:
Human Molecular Genetics, 1999, v. 8, n. 9, p. 1621, doi. 10.1093/hmg/8.9.1621
By:
- 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.;
- Strachan, Tom
Publication type:
Article
Mutations in ATP2A2, encoding a Ca<sup>2+</sup> pump, cause Darier disease.
Published in:
Nature Genetics, 1999, v. 21, n. 3, p. 271, doi. 10.1038/6784
By:
- Sakuntabhai, Anavaj;
- Ruiz-Perez, Victor;
- Carter, Simon;
- Jacobsen, Nick;
- Burge, Susan;
- Monk, Sarah;
- Smith, Melanie;
- Munro, Colin S.;
- O'Donovan, Michael;
- Craddock, Nick;
- Kucherlapati, Raju;
- Rees, Jonathan L.;
- Owen, Mike;
- Lathrop, G. Mark;
- Monaco, Anthony P.;
- Strachan, Tom;
- Hovnanian, Alain
Publication type:
Article
A missense mutation in connexin26, D66H, cases mutilating keratoderma with sensorineural deafness (Vohwinkel's syndrome) in three unrelated families.
Published in:
Human Molecular Genetics, 1999, v. 8, n. 7, p. 1237, doi. 10.1093/hmg/8.7.1237
By:
- Maestrini, Elena;
- Korge, Bernhard P.;
- Ocana-Sierra, Juan;
- Calzolari, Elisa;
- Cambiaghi, Stefano;
- Scudder, Pat M.;
- Hovnanian, Alain;
- Monaco, Anthony P.;
- Munro, Colin S.
Publication type:
Article
A gene for monilethrix is closely linked to the type II keratin gene cluster at 12q13.
Published in:
Human Molecular Genetics, 1995, v. 4, n. 12, p. 2399
By:
- Healy, Eugene;
- Holmes, Susan C.;
- Belgaid, Christine E.;
- Stephenson, Anthea M.;
- McLean, W.H.Irwin;
- Rees, Jonathan L.;
- Munro, Colin S.
Publication type:
Article
Localisation of a gene for Darier's disease.
Published in:
Human Molecular Genetics, 1993, v. 2, n. 11, p. 1937
By:
- Bashir, Rumaisa;
- Munro, Colin S.;
- Mason, Susan;
- Stephenson, Anthea;
- Rees, Jonathan L.;
- Strachan, Tom
Publication type:
Article

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