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Colin Munro

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Elaine K Green; Detelina Grozeva; Lisa Jones; Colin S Munro; S Tavadia; Susan M Burge; Katherine Gordon-Smith; Nicholoas Craddock
Novel ATP2A2 mutations in a large sample of individuals with Darier disease.
Aileen Sandilands; Fatema Thawer-Esmail; Neil J Wilson; W H Irwin McLean; Kenichi Miyamoto; Colin S Munro; Elizabeth Pohler; Masayuki Amagai; Sara J Brown; Linda E Campbell; Christabelle S Goh; Alan D Irvine; Akiharu Kubo; Jun Kudoh; Takeshi Matsui
Mutations in the SASPase gene (ASPRV1) are not associated with atopic eczema or clinically dry skin.
Aileen Sandilands; Ana Terron-Kwiatkowski; Peter R Hull; Gráinne M O'Regan; Timothy H Clayton; Rosemarie M Watson; Thomas Carrick; Alan T Evans; Haihui Liao; Yiwei Zhao; Linda E Campbell; Matthias Schmuth; Robert Gruber; Andreas R Janecke; Peter M Elias; Maurice A M van Steensel; Ivo Nagtzaam; Michel van Geel; Peter M Steijlen; Colin S Munro; Daniel G Bradley; Colin N A Palmer; Frances J D Smith; W H Irwin McLean; Alan D Irvine
Comprehensive analysis of the gene encoding filaggrin uncovers prevalent and rare mutations in ichthyosis vulgaris and atopic eczema.

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All Publications

2013: Elaine K Green; Detelina Grozeva; Lisa Jones; Colin S Munro; S Tavadia; Susan M Burge; Katherine Gordon-Smith; Nicholoas Craddock
Novel ATP2A2 mutations in a large sample of individuals with Darier disease.
The Journal of dermatology 2013;40(4):259-66.
2012: Aileen Sandilands; Fatema Thawer-Esmail; Neil J Wilson; W H Irwin McLean; Kenichi Miyamoto; Colin S Munro; Elizabeth Pohler; Masayuki Amagai; Sara J Brown; Linda E Campbell; Christabelle S Goh; Alan D Irvine; Akiharu Kubo; Jun Kudoh; Takeshi Matsui
Mutations in the SASPase gene (ASPRV1) are not associated with atopic eczema or clinically dry skin.
The Journal of investigative dermatology 2012;132(5):1507-10.
2007: Aileen Sandilands; Ana Terron-Kwiatkowski; Peter R Hull; Gráinne M O'Regan; Timothy H Clayton; Rosemarie M Watson; Thomas Carrick; Alan T Evans; Haihui Liao; Yiwei Zhao; Linda E Campbell; Matthias Schmuth; Robert Gruber; Andreas R Janecke; Peter M Elias; Maurice A M van Steensel; Ivo Nagtzaam; Michel van Geel; Peter M Steijlen; Colin S Munro; Daniel G Bradley; Colin N A Palmer; Frances J D Smith; W H Irwin McLean; Alan D Irvine
Comprehensive analysis of the gene encoding filaggrin uncovers prevalent and rare mutations in ichthyosis vulgaris and atopic eczema.
Nature genetics 2007;39(5):650-4.
2006: Elizabeth E Norgett; Tom W Lucke; Bill Bowers; Colin S Munro; Irene M Leigh; David P Kelsell
Early death from cardiomyopathy in a family with autosomal dominant striate palmoplantar keratoderma and woolly hair associated with a novel insertion mutation in desmoplakin.
The Journal of investigative dermatology 2006;126(7):1651-4.
2006: Colin N A Palmer; Alan D Irvine; Ana Terron-Kwiatkowski; Yiwei Zhao; Haihui Liao; Simon P Lee; David R Goudie; Aileen Sandilands; Linda E Campbell; Frances J D Smith; Gráinne M O'Regan; Rosemarie M Watson; Joanne E Cecil; Sherri J Bale; John G Compton; John J DiGiovanna; Philip Fleckman; Sue Lewis-Jones; Gehan Arseculeratne; Ann Sergeant; Colin S Munro; Brahim El Houate; Ken McElreavey; Liselotte B Halkjaer; Hans Bisgaard; Somnath Mukhopadhyay; W H Irwin McLean
Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis.
Nature genetics 2006;38(4):441-6.
2006: Frances J D Smith; Alan D Irvine; Ana Terron-Kwiatkowski; Aileen Sandilands; Linda E Campbell; Yiwei Zhao; Haihui Liao; Alan T Evans; David R Goudie; Sue Lewis-Jones; Gehan Arseculeratne; Colin S Munro; Ann Sergeant; Gráinne M O'Regan; Sherri J Bale; John G Compton; John J DiGiovanna; Richard B Presland; Philip Fleckman; W H Irwin McLean
Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris.
Nature genetics 2006;38(3):337-42.
2005: Joanna E Gach; Colin S Munro; E Birgitte Lane; N J E Wilson; Celia Moss
Two families with Greither's syndrome caused by a keratin 1 mutation.
Journal of the American Academy of Dermatology 2005;53(5 Suppl 1):S225-30.
2005: Frances J D Smith; Haihui Liao; Andrew J Cassidy; Arlene Stewart; Kevin J Hamill; Pamela Wood; Iris Joval; Maurice A M van Steensel; Erik Björck; Faith Callif-Daley; Gerald Pals; Paul Collins; Sancy A Leachman; Colin S Munro; W H Irwin McLean
The genetic basis of pachyonychia congenita.
The journal of investigative dermatology. Symposium proceedings / the Society for Investigative Dermatology, Inc. [and] European Society for Dermatological Research 2005;10(1):21-30.
2005: Sancy A Leachman; Roger L Kaspar; Philip Fleckman; Scott R Florell; Frances J D Smith; W H Irwin McLean; Declan P Lunny; Leonard M Milstone; Maurice A M van Steensel; Colin S Munro; Edel A O'Toole; Julide Tok Celebi; Aleksej Kansky; E Birgitte Lane
Clinical and pathological features of pachyonychia congenita.
The journal of investigative dermatology. Symposium proceedings / the Society for Investigative Dermatology, Inc. [and] European Society for Dermatological Research 2005;10(1):3-17.
2004: S Tavadia; K S Authi; M B Hodgins; Colin S Munro
Expression of the sarco/endoplasmic reticulum calcium ATPase type 2 and 3 isoforms in normal skin and Darier's disease.
The British journal of dermatology 2004;151(2):440-5.
2004: Rebecca J Fairclough; Lorne Lonie; Kurt Van Baelen; Marek Haftek; Colin S Munro; Susan Burge; Alain Hovnanian
Hailey-Hailey disease: identification of novel mutations in ATP2C1 and effect of missense mutation A528P on protein expression levels.
The Journal of investigative dermatology 2004;123(1):67-71.
2003: Robert H Rice; Debra Crumrine; Daniel Hohl; Colin S Munro; P M Elias
Cross-linked envelopes in nail plate in lamellar ichthyosis.
The British journal of dermatology 2003;149(5):1050-4.
2003: W H Irwin McLean; Alan D Irvine; Kevin J Hamill; Neil Whittock; Carrie M Coleman-Campbell; Jemima E Mellerio; Gabrielle S Ashton; Patricia Dopping-Hepenstal; Robin A J Eady; Tanvir Jamil; Roderic J Phillips; S Ghulam Shabbir; Tahir Saeed Haroon; Khawar Khurshid; Jonathan E Moore; Brian Page; Jonathan Darling; David J Atherton; Maurice A M van Steensel; Colin S Munro; Frances J D Smith; John A McGrath; Rodney J Phillips
An unusual N-terminal deletion of the laminin alpha3a isoform leads to the chronic granulation tissue disorder laryngo-onycho-cutaneous syndrome.
Human molecular genetics 2003;12(18):2395-409.
2003: G Dawn; SC Holmes; D Moffat; Colin S Munro
Post-menopausal frontal fibrosing alopecia.
Clinical and experimental dermatology 2003;28(1):43-5.
2002: D Torley; G A Bellus; Colin S Munro
Genes, growth factors and acanthosis nigricans.
The British journal of dermatology 2002;147(6):1096-101.
2002: Takahiro Hamada; W H Irwin McLean; Michele Ramsay; G H S Ashton; Arti Nanda; Trefor Jenkins; Isobel Edelstein; Andrew P South; Oliver Bleck; Vesarat Wessagowit; Rajeev Mallipeddi; Guy E Orchard; Hong Wan; Patricia Dopping-Hepenstal; Jemima E Mellerio; Neil Whittock; Colin S Munro; Maurice A M van Steensel; Peter M Steijlen; Jian Ni; Lurong Zhang; Takashi Hashimoto; Robin A J Eady; John A McGrath
Lipoid proteinosis maps to 1q21 and is caused by mutations in the extracellular matrix protein 1 gene (ECM1).
Human molecular genetics 2002;11(7):833-40.
2002: Carol Dobson-Stone; Rebecca J Fairclough; Eimear Dunne; Joanna Brown; Manel Dissanayake; Colin S Munro; Tom Strachan; Susan Burge; Ralf Sudbrak; Anthony P Monaco; Alain Hovnanian
Hailey-Hailey disease: molecular and clinical characterization of novel mutations in the ATP2C1 gene.
The Journal of investigative dermatology 2002;118(2):338-43.
2002: S Tavadia; E Mortimer; Colin S Munro
Genetic epidemiology of Darier's disease: a population study in the west of Scotland.
The British journal of dermatology 2002;146(1):107-9.
2001: Alessandro Terrinoni; Frances J D Smith; Biagio Didona; F Canzona; Mauro Paradisi; M Huber; Daniel Hohl; A David; Alain Verloes; I M Leigh; Colin S Munro; Gerry Melino; W H Irwin McLean
Novel and recurrent mutations in the genes encoding keratins K6a, K16 and K17 in 13 cases of pachyonychia congenita.
The Journal of investigative dermatology 2001;117(6):1391-6.
2001: S Tavadia; R C Tait; T A McDonagh; Colin S Munro
Platelet and cardiac function in Darier's disease.
Clinical and experimental dermatology 2001;26(8):696-9.
2001: CS Jury; Tom W Lucke; Colin S Munro
The clinical photography of Herbert Brown: a perspective on early 20th Century dermatology.
Clinical and experimental dermatology 2001;26(5):449-54.
2001: Fatima Rouan; Thomas W White; Nkecha Brown; A M Taylor; Tom W Lucke; David L Paul; Colin S Munro; Jouni Uitto; M B Hodgins; Gabriele Richard
trans-dominant inhibition of connexin-43 by mutant connexin-26: implications for dominant connexin disorders affecting epidermal differentiation.
Journal of cell science 2001;114(Pt 11):2105-13.
2001: N Afrina Alam; S Bevan; Michael Churchman; Ella Barclay; K Barker; Emma Jaeger; H M Nelson; E Healy; A C Pembroke; P S Friedmann; K Dalziel; Eduardo Calonje; J Anderson; P J August; M G Davies; R Felix; Colin S Munro; M Murdoch; J Rendall; Stephen Kennedy; Irene M Leigh; David Kelsell; Ian P M Tomlinson; richard Houlston
Localization of a gene (MCUL1) for multiple cutaneous leiomyomata and uterine fibroids to chromosome 1q42.3-q43.
American journal of human genetics 2001;68(5):1264-9.
2001: Alessandro Terrinoni; Elizabeth L Rugg; E Birgitte Lane; G Melino; D H Felix; Colin S Munro; W H Irwin McLean
A novel mutation in the keratin 13 gene causing oral white sponge nevus.
Journal of dental research 2001;80(3):919-23.
2001: Robert S Dawe; G Sweeney; Colin S Munro
A vesico-pustular rash and arthralgia.
Clinical and experimental dermatology 2001;26(1):113-4.
2000: David P Kelsell; AL Wilgoss; G Richard; Howard P Stevens; Colin S Munro; Irene M Leigh
Connexin mutations associated with palmoplantar keratoderma and profound deafness in a single family.
European journal of human genetics : EJHG 2000;8(6):469-72.
2000: Ralf Sudbrak; J Brown; Carol Dobson-Stone; S Carter; J Ramser; J White; E Healy; M Dissanayake; M Larrègue; M Perrussel; Hans Lehrach; Colin S Munro; Tom Strachan; Susan Burge; Alain Hovnanian; Anthony P Monaco
Hailey-Hailey disease is caused by mutations in ATP2C1 encoding a novel Ca(2+) pump.
Human molecular genetics 2000;9(7):1131-40.
2000: CS Jury; Colin S Munro
Linear lichen planus related to hepatitis C infection?
The British journal of dermatology 2000;142(4):836-7.
2000: David P Kelsell; AL Wilgoss; G Richard; Howard P Stevens; Colin S Munro; Irene M Leigh
Connexin mutations associated with palmoplantar keratoderma and profound deafness in a single family.
European journal of human genetics : EJHG 2000;8(2):141-4.
1999: Frances J D Smith; M Del Monaco; Peter M Steijlen; Colin S Munro; M Morvay; CM Coleman; F J Rietveld; Jouni Uitto; W H Irwin McLean
Novel proline substitution mutations in keratin 16 in two cases of pachyonychia congenita type 1.
The British journal of dermatology 1999;141(6):1010-6.
1999: Bernhard P Korge; H Hamm; CS Jury; Heiko Traupe; Alan D Irvine; E Healy; Mark A Birch-Machin; Jonathan L Rees; AG Messenger; SC Holmes; D A Parry; Colin S Munro
Identification of novel mutations in basic hair keratins hHb1 and hHb6 in monilethrix: implications for protein structure and clinical phenotype.
The Journal of investigative dermatology 1999;113(4):607-12.
1999: Victor L Ruiz-Perez; S A Carter; E Healy; C Todd; Jonathan L Rees; P M Steijlen; A J Carmichael; H M Lewis; Daniel Hohl; P Itin; A Vahlquist; Tommaso Gobello; Cinzia Mazzanti; R Reggazini; G Nagy; Colin S Munro; Tom Strachan
ATP2A2 mutations in Darier's disease: variant cutaneous phenotypes are associated with missense mutations, but neuropsychiatric features are independent of mutation class.
Human molecular genetics 1999;8(9):1621-30.
1999: Bernhard P Korge; E Healy; Heiko Traupe; C Pünter; C Mauch; H Hamm; Mark A Birch-Machin; CE Belgaid; A M Stephenson; SC Holmes; S Darlington; AG Messenger; Jonathan L Rees; Colin S Munro
Point mutation in the helix termination peptide (HTP) of human type II hair keratin hHb6 causes monilethrix in five families.
Experimental dermatology 1999;8(4):310-2.
1999: Maurice A M van Steensel; Frances J D Smith; Peter M Steijlen; Irma Kluijt; Howard P Stevens; AG Messenger; Hannie Kremer; M G Dunnill; C Kennedy; Colin S Munro; V R Doherty; John A McGrath; Seana P Covello; CM Coleman; Jouni Uitto; W H Irwin McLean
The gene for hypotrichosis of Marie Unna maps between D8S258 and D8S298: exclusion of the hr gene by cDNA and genomic sequencing.
American journal of human genetics 1999;65(2):413-9.
1999: Elena Maestrini; Bernhard P Korge; J Ocaña-Sierra; E Calzolari; S Cambiaghi; P M Scudder; Alain Hovnanian; Anthony P Monaco; Colin S Munro
A missense mutation in connexin26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel's syndrome) in three unrelated families.
Human molecular genetics 1999;8(7):1237-43.
1999: CM Coleman; Colin S Munro; Frances J D Smith; Jouni Uitto; W H Irwin McLean
Epidermolytic palmoplantar keratoderma due to a novel type of keratin mutation, a 3-bp insertion in the keratin 9 helix termination motif.
The British journal of dermatology 1999;140(3):486-90.
1999: Anavaj Sakuntabhai; Victor L Ruiz-Perez; S Carter; N Jacobsen; Susan Burge; S Monk; M Smith; Colin S Munro; M O'Donovan; N Craddock; Raju Kucherlapati; Jonathan L Rees; M Owen; G Mark Lathrop; Anthony P Monaco; Tom Strachan; Alain Hovnanian
Mutations in ATP2A2, encoding a Ca2+ pump, cause Darier disease.
Nature genetics 1999;21(3):271-7.
1998: Seana P Covello; Alan D Irvine; KE McKenna; Colin S Munro; NC Nevin; Frances J D Smith; Jouni Uitto; W H Irwin McLean
Mutations in keratin K9 in kindreds with epidermolytic palmoplantar keratoderma and epidemiology in Northern Ireland.
The Journal of investigative dermatology 1998;111(6):1207-9.
1998: Bernhard P Korge; E Healy; Colin S Munro; C Pünter; Mark A Birch-Machin; SC Holmes; S Darlington; H Hamm; AG Messenger; Jonathan L Rees; Heiko Traupe
A mutational hotspot in the 2B domain of human hair basic keratin 6 (hHb6) in monilethrix patients.
The Journal of investigative dermatology 1998;111(5):896-9.
1998: Seana P Covello; Frances J D Smith; J H Sillevis Smitt; A S Paller; Colin S Munro; M F Jonkman; Jouni Uitto; W H Irwin McLean
Keratin 17 mutations cause either steatocystoma multiplex or pachyonychia congenita type 2.
The British journal of dermatology 1998;139(3):475-80.
1998: S Monk; Anavaj Sakuntabhai; S A Carter; S D Bryce; R Cox; L Harrington; E Levy; Victor L Ruiz-Perez; E Katsantoni; A Kodvawala; Colin S Munro; Susan Burge; M Larrègue; G Nagy; Jonathan L Rees; Mark Lathrop; Anthony P Monaco; Tom Strachan; Alain Hovnanian
Refined genetic mapping of the darier locus to a <1-cM region of chromosome 12q24.1, and construction of a complete, high-resolution P1 artificial chromosome/bacterial artificial chromosome contig of the critical region.
American journal of human genetics 1998;62(4):890-903.
1997: Bernhard P Korge; Akemi Ishida-Yamamoto; C Pünter; Patricia Dopping-Hepenstal; Hajime Iizuka; A Stephenson; Robin A J Eady; Colin S Munro
Loricrin mutation in Vohwinkel's keratoderma is unique to the variant with ichthyosis.
The Journal of investigative dermatology 1997;109(4):604-10.
1997: John Berth-Jones; C A Henderson; Colin S Munro; S Rogers; R J G Chalmers; M J Boffa; P G Norris; Peter S Friedmann; R A C Graham-Brown; P M Dowd; R Marks; M J Sumner
Treatment of psoriasis with intermittent short course cyclosporin (Neoral). A multicentre study.
The British journal of dermatology 1997;136(4):527-30.
1997: Frances J D Smith; Laura D Corden; Elizabeth L Rugg; R Ratnavel; Irene M Leigh; Celia Moss; Michael J Tidman; Daniel Hohl; Marcel Huber; L Kunkeler; Colin S Munro; E Birgitte Lane; W H Irwin McLean
Missense mutations in keratin 17 cause either pachyonychia congenita type 2 or a phenotype resembling steatocystoma multiplex.
The Journal of investigative dermatology 1997;108(2):220-3.
1995: E Healy; SC Holmes; C E Belgaid; A M Stephenson; W H Irwin McLean; Jonathan L Rees; Colin S Munro
A gene for monilethrix is closely linked to the type II keratin gene cluster at 12q13.
Human molecular genetics 1995;4(12):2399-402.
1995: Elizabeth L Rugg; W H Irwin McLean; W E Allison; D P Lunny; R I Macleod; D H Felix; E Birgitte Lane; Colin S Munro
A mutation in the mucosal keratin K4 is associated with oral white sponge nevus.
Nature genetics 1995;11(4):450-2.
1994: S A Carter; S D Bryce; Colin S Munro; E Healy; Rumaisa Bashir; J Weissenbach; J LeBlanc-Straceski; Raju Kucherlapati; A Stephenson; Jonathan L Rees
Linkage analyses in British pedigrees suggest a single locus for Darier disease and narrow the location to the interval between D12S105 and D12S129.
Genomics 1994;24(2):378-82.
1994: Colin S Munro; S Carter; S Bryce; M Hall; Jonathan L Rees; L Kunkeler; A Stephenson; T Strachan
A gene for pachyonychia congenita is closely linked to the keratin gene cluster on 17q12-q21.
Journal of medical genetics 1994;31(9):675-8.
1994: A M Adams; R I Macleod; Colin S Munro
Symptomatic and asymptomatic salivary duct abnormalities in Darier's disease: a sialographic study.
Dento maxillo facial radiology 1994;23(1):25-8.
1993: Rumaisa Bashir; Colin S Munro; Susan Mason; A Stephenson; Jonathan L Rees; T Strachan
Localisation of a gene for Darier's disease.
Human molecular genetics 1993;2(11):1937-9.
1992: Colin S Munro; Sarabjit Mastana; Surinder S Papiha
Mapping of the Darier's disease gene by serogenetic markers: results in two large British kindreds.
Annales de génétique 1992;35(3):157-60.
1991: R I Macleod; Colin S Munro
The incidence and distribution of oral lesions in patients with Darier's disease.
British dental journal 1991;171(5):133-6.