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Items: 1 to 50 of 531

1.

Exome sequencing and rare variant analysis reveals multiple filaggrin mutations in Bangladeshi atopic eczema families and additional risk genes.

Pigors M, Common JEA, Wong XFCC, Malik S, Scott CA, Tabarra N, Liany H, Liu J, Limviphuvadh V, Maurer-Stroh S, Tang MB, Lench N, Margolis DJ, van Heel DA, Mein CA, Novak N, Baurecht H, Weidinger S, McLean WHI, Irvine AD, O'Toole EA, Simpson MA, Kelsell DP.

J Invest Dermatol. 2018 May 29. pii: S0022-202X(18)31990-0. doi: 10.1016/j.jid.2018.05.013. [Epub ahead of print] No abstract available.

PMID:
29857066
2.

Early life regional and temporal variation in filaggrin-derived natural moisturising factor, filaggrin processing enzyme activity, corneocyte phenotypes and plasmin activity: Implications for atopic dermatitis.

McAleer MA, Jakasa I, Raj N, O'Donnell CPF, Lane ME, Rawlings AV, Voegeli R, McLean WHI, Kezic S, Irvine AD.

Br J Dermatol. 2018 Apr 25. doi: 10.1111/bjd.16691. [Epub ahead of print]

PMID:
29691836
3.

Toward a true cure for hearing impairment.

McLean W.

Science. 2018 Mar 9;359(6380):1113. doi: 10.1126/science.aat0966. Epub 2018 Mar 8. No abstract available.

PMID:
29590039
4.

Clinical features and molecular genetic analysis in a Turkish family with oral white sponge nevus.

Kürklü E, Öztürk Ş, Cassidy AJ, Ak G, Koray M, Çefle K, Palandüz Ş, Güllüoğlu MG, Tanyeri H, McLean WH.

Med Oral Patol Oral Cir Bucal. 2018 Mar 1;23(2):e144-e150. doi: 10.4317/medoral.21437.

5.

Mutations involving the SRY-related gene SOX8 are associated with a spectrum of human reproductive anomalies.

Portnoi MF, Dumargne MC, Rojo S, Witchel SF, Duncan AJ, Eozenou C, Bignon-Topalovic J, Yatsenko SA, Rajkovic A, Reyes-Mugica M, Almstrup K, Fusee L, Srivastava Y, Chantot-Bastaraud S, Hyon C, Louis-Sylvestre C, Validire P, de Malleray Pichard C, Ravel C, Christin-Maitre S, Brauner R, Rossetti R, Persani L, Charreau EH, Dain L, Chiauzzi VA, Mazen I, Rouba H, Schluth-Bolard C, MacGowan S, McLean WHI, Patin E, Rajpert-De Meyts E, Jauch R, Achermann JC, Siffroi JP, McElreavey K, Bashamboo A.

Hum Mol Genet. 2018 Apr 1;27(7):1228-1240. doi: 10.1093/hmg/ddy037.

6.

Gaining Insights from Candida Biofilm Heterogeneity: One Size Does Not Fit All.

Kean R, Delaney C, Rajendran R, Sherry L, Metcalfe R, Thomas R, McLean W, Williams C, Ramage G.

J Fungi (Basel). 2018 Jan 15;4(1). pii: E12. doi: 10.3390/jof4010012. Review.

7.

Filaggrin gene mutations may influence the persistence of food allergies in Japanese primary school children.

Kono M, Akiyama M, Inoue Y, Nomura T, Hata A, Okamoto Y, Takeichi T, Muro Y, McLean WHI, Shimizu H, Sugiura K, Suzuki Y, Shimojo N.

Br J Dermatol. 2018 Jan 25. doi: 10.1111/bjd.16375. [Epub ahead of print] No abstract available.

PMID:
29369340
8.

Pachyonychia Congenita.

Smith FJD, Hansen CD, Hull PR, Kaspar RL, McLean WHI, O’Toole E, Sprecher E.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2006 Jan 27 [updated 2017 Nov 30].

9.

Volatility of the catalytic hydrogenation products of 1,4 bis(phenylethynyl)benzene.

Sharma HN, Sangalang EA, Saw CK, Cairns GA, McLean W, Maxwell RS, Dinh LN.

J Chem Phys. 2017 Nov 21;147(19):194701. doi: 10.1063/1.5001205.

PMID:
29166097
10.

Gentamicin-Induced Readthrough and Nonsense-Mediated mRNA Decay of SERPINB7 Nonsense Mutant Transcripts.

Ohguchi Y, Nomura T, Suzuki S, Takeda M, Miyauchi T, Mizuno O, Shinkuma S, Fujita Y, Nemoto O, Ono K, McLean WHI, Shimizu H.

J Invest Dermatol. 2018 Apr;138(4):836-843. doi: 10.1016/j.jid.2017.10.014. Epub 2017 Oct 26.

PMID:
29106929
11.

Array-based sequencing of filaggrin gene for comprehensive detection of disease-associated variants.

Wong XFCC, Denil SLIJ, Foo JN, Chen H, Tay ASL, Haines RL, Tang MBY, McLean WHI, Sandilands A, Smith FJD, Lane EB, Liu J, Common JEA.

J Allergy Clin Immunol. 2018 Feb;141(2):814-816. doi: 10.1016/j.jaci.2017.10.001. Epub 2017 Oct 19. No abstract available.

12.

A novel keratin 13 variant in a four-generation family with white sponge nevus.

de Haseth SB, Bakker E, Vermeer MH, El Idrissi H, Bosse T, Smit VTHBM, Terron-Kwiatkowski A, McLean WHI, Peters AAW, Hes FJ.

Clin Case Rep. 2017 Jul 29;5(9):1503-1509. doi: 10.1002/ccr3.1073. eCollection 2017 Sep.

13.

Keratin 6b variant p.Gly499Ser reported in delayed-onset pachyonychia congenita is a non-pathogenic polymorphism.

Smith FJD, McLean WHI.

J Dermatol. 2017 Dec;44(12):e312. doi: 10.1111/1346-8138.14001. Epub 2017 Aug 16. No abstract available.

14.

Biallelic Mutations in KDSR Disrupt Ceramide Synthesis and Result in a Spectrum of Keratinization Disorders Associated with Thrombocytopenia.

Takeichi T, Torrelo A, Lee JYW, Ohno Y, Lozano ML, Kihara A, Liu L, Yasuda Y, Ishikawa J, Murase T, Rodrigo AB, Fernández-Crehuet P, Toi Y, Mellerio J, Rivera J, Vicente V, Kelsell DP, Nishimura Y, Okuno Y, Kojima D, Ogawa Y, Sugiura K, Simpson MA, McLean WHI, Akiyama M, McGrath JA.

J Invest Dermatol. 2017 Nov;137(11):2344-2353. doi: 10.1016/j.jid.2017.06.028. Epub 2017 Jul 31.

15.

Clumping Factor B Promotes Adherence of Staphylococcus aureus to Corneocytes in Atopic Dermatitis.

Fleury OM, McAleer MA, Feuillie C, Formosa-Dague C, Sansevere E, Bennett DE, Towell AM, McLean WHI, Kezic S, Robinson DA, Fallon PG, Foster TJ, Dufrêne YF, Irvine AD, Geoghegan JA.

Infect Immun. 2017 May 23;85(6). pii: e00994-16. doi: 10.1128/IAI.00994-16. Print 2017 Jun.

16.

Clonal Expansion of Lgr5-Positive Cells from Mammalian Cochlea and High-Purity Generation of Sensory Hair Cells.

McLean WJ, Yin X, Lu L, Lenz DR, McLean D, Langer R, Karp JM, Edge ASB.

Cell Rep. 2017 Feb 21;18(8):1917-1929. doi: 10.1016/j.celrep.2017.01.066.

17.

Large Intragenic Deletion in DSTYK Underlies Autosomal-Recessive Complicated Spastic Paraparesis, SPG23.

Lee JYW, Hsu CK, Michael M, Nanda A, Liu L, McMillan JR, Pourreyron C, Takeichi T, Tolar J, Reid E, Hayday T, Blumen SC, Abu-Mouch S, Straussberg R, Basel-Vanagaite L, Barhum Y, Zouabi Y, Al-Ajmi H, Huang HY, Lin TC, Akiyama M, Lee JYY, McLean WHI, Simpson MA, Parsons M, McGrath JA.

Am J Hum Genet. 2017 Feb 2;100(2):364-370. doi: 10.1016/j.ajhg.2017.01.014.

18.

Distinct capacity for differentiation to inner ear cell types by progenitor cells of the cochlea and vestibular organs.

McLean WJ, McLean DT, Eatock RA, Edge AS.

Development. 2016 Dec 1;143(23):4381-4393. Epub 2016 Oct 27.

19.

Calpain 12 Function Revealed through the Study of an Atypical Case of Autosomal Recessive Congenital Ichthyosis.

Bochner R, Samuelov L, Sarig O, Li Q, Adase CA, Isakov O, Malchin N, Vodo D, Shayevitch R, Peled A, Yu BD, Fainberg G, Warshauer E, Adir N, Erez N, Gat A, Gottlieb Y, Rogers T, Pavlovsky M, Goldberg I, Shomron N, Sandilands A, Campbell LE, MacCallum S, McLean WH, Ast G, Gallo RL, Uitto J, Sprecher E.

J Invest Dermatol. 2017 Feb;137(2):385-393. doi: 10.1016/j.jid.2016.07.043. Epub 2016 Oct 18.

20.

Filaggrin failure - from ichthyosis vulgaris to atopic eczema and beyond.

McLean WH.

Br J Dermatol. 2016 Oct;175 Suppl 2:4-7. doi: 10.1111/bjd.14997. Review.

21.

Assessment of a Prototype Apache Flight Eyewear.

Walsh DV, Jurek GM, McLean WE, Statz JK, Allen RL, Riggs DW.

Aerosp Med Hum Perform. 2016 Sep;87(9):800-5. doi: 10.3357/AMHP.4581.2016.

PMID:
27634700
22.

Temperature-Dependent Kinetic Prediction for Reactions Described by Isothermal Mathematics.

Dinh LN, Sun TC, McLean W 2nd.

J Phys Chem A. 2016 Oct 6;120(39):7617-7623. Epub 2016 Sep 22.

PMID:
27617790
23.

Skin microbiome before development of atopic dermatitis: Early colonization with commensal staphylococci at 2 months is associated with a lower risk of atopic dermatitis at 1 year.

Kennedy EA, Connolly J, Hourihane JO, Fallon PG, McLean WHI, Murray D, Jo JH, Segre JA, Kong HH, Irvine AD.

J Allergy Clin Immunol. 2017 Jan;139(1):166-172. doi: 10.1016/j.jaci.2016.07.029. Epub 2016 Sep 5.

24.

Compound heterozygotes for filaggrin gene mutations do not always show severe atopic dermatitis.

Sekiya A, Kono M, Tsujiuchi H, Kobayashi T, Nomura T, Kitakawa M, Suzuki N, Yamanaka K, Sueki H, McLean WH, Shimizu H, Akiyama M.

J Eur Acad Dermatol Venereol. 2017 Jan;31(1):158-162. doi: 10.1111/jdv.13871. Epub 2016 Aug 13.

PMID:
27519469
25.

Mutations in POGLUT1 in Galli-Galli/Dowling-Degos disease.

Wilson NJ, Cole C, Kroboth K, Hunter WN, Mann JA, McLean WH, Kernland Lang K, Beltraminelli H, Sabroe RA, Tiffin N, Sobey GJ, Borradori L, Simpson E, Smith FJ.

Br J Dermatol. 2017 Jan;176(1):270-274. doi: 10.1111/bjd.14914. Epub 2016 Sep 24. No abstract available.

26.

Association between domestic water hardness, chlorine, and atopic dermatitis risk in early life: A population-based cross-sectional study.

Perkin MR, Craven J, Logan K, Strachan D, Marrs T, Radulovic S, Campbell LE, MacCallum SF, McLean WH, Lack G, Flohr C; Enquiring About Tolerance Study Team.

J Allergy Clin Immunol. 2016 Aug;138(2):509-16. doi: 10.1016/j.jaci.2016.03.031. Epub 2016 Apr 28.

PMID:
27241890
27.

Filaggrin-null mutations are associated with increased maturation markers on Langerhans cells.

Leitch CS, Natafji E, Yu C, Abdul-Ghaffar S, Madarasingha N, Venables ZC, Chu R, Fitch PM, Muinonen-Martin AJ, Campbell LE, McLean WH, Schwarze J, Howie SE, Weller RB.

J Allergy Clin Immunol. 2016 Aug;138(2):482-490.e7. doi: 10.1016/j.jaci.2015.11.040. Epub 2016 Mar 2.

28.

Skin barrier impairment at birth predicts food allergy at 2 years of age.

Kelleher MM, Dunn-Galvin A, Gray C, Murray DM, Kiely M, Kenny L, McLean WHI, Irvine AD, Hourihane JO.

J Allergy Clin Immunol. 2016 Apr;137(4):1111-1116.e8. doi: 10.1016/j.jaci.2015.12.1312.

PMID:
26924469
29.

Too Much, Too Little or Just Enough: A Goldilocks Effect for IL-13 and Skin Barrier Regulation?

Strid J, McLean WH, Irvine AD.

J Invest Dermatol. 2016 Mar;136(3):561-4. doi: 10.1016/j.jid.2015.12.025.

30.

Filaggrin genotype does not determine the skin's threshold to UV-induced erythema.

Forbes D, Johnston L, Gardner J, MacCallum SF, Campbell LE, Dinkova-Kostova AT, McLean WHI, Ibbotson SH, Dawe RS, Brown SJ.

J Allergy Clin Immunol. 2016 Apr;137(4):1280-1282.e3. doi: 10.1016/j.jaci.2015.11.022. Epub 2016 Jan 29. No abstract available.

31.

Keratin 12 missense mutation induces the unfolded protein response and apoptosis in Meesmann epithelial corneal dystrophy.

Allen EH, Courtney DG, Atkinson SD, Moore JE, Mairs L, Poulsen ET, Schiroli D, Maurizi E, Cole C, Hickerson RP, James J, Murgatroyd H, Smith FJ, MacEwen C, Enghild JJ, Nesbit MA, Leslie Pedrioli DM, McLean WH, Moore CB.

Hum Mol Genet. 2016 Mar 15;25(6):1176-91. doi: 10.1093/hmg/ddw001. Epub 2016 Jan 11.

32.

Multi-ancestry genome-wide association study of 21,000 cases and 95,000 controls identifies new risk loci for atopic dermatitis.

Paternoster L, Standl M, Waage J, Baurecht H, Hotze M, Strachan DP, Curtin JA, Bønnelykke K, Tian C, Takahashi A, Esparza-Gordillo J, Alves AC, Thyssen JP, den Dekker HT, Ferreira MA, Altmaier E, Sleiman PM, Xiao FL, Gonzalez JR, Marenholz I, Kalb B, Yanes MP, Xu CJ, Carstensen L, Groen-Blokhuis MM, Venturini C, Pennell CE, Barton SJ, Levin AM, Curjuric I, Bustamante M, Kreiner-Møller E, Lockett GA, Bacelis J, Bunyavanich S, Myers RA, Matanovic A, Kumar A, Tung JY, Hirota T, Kubo M, McArdle WL, Henderson AJ, Kemp JP, Zheng J, Smith GD, Rüschendorf F, Bauerfeind A, Lee-Kirsch MA, Arnold A, Homuth G, Schmidt CO, Mangold E, Cichon S, Keil T, Rodríguez E, Peters A, Franke A, Lieb W, Novak N, Fölster-Holst R, Horikoshi M, Pekkanen J, Sebert S, Husemoen LL, Grarup N, de Jongste JC, Rivadeneira F, Hofman A, Jaddoe VW, Pasmans SG, Elbert NJ, Uitterlinden AG, Marks GB, Thompson PJ, Matheson MC, Robertson CF; Australian Asthma Genetics Consortium (AAGC), Ried JS, Li J, Zuo XB, Zheng XD, Yin XY, Sun LD, McAleer MA, O'Regan GM, Fahy CM, Campbell LE, Macek M, Kurek M, Hu D, Eng C, Postma DS, Feenstra B, Geller F, Hottenga JJ, Middeldorp CM, Hysi P, Bataille V, Spector T, Tiesler CM, Thiering E, Pahukasahasram B, Yang JJ, Imboden M, Huntsman S, Vilor-Tejedor N, Relton CL, Myhre R, Nystad W, Custovic A, Weiss ST, Meyers DA, Söderhäll C, Melén E, Ober C, Raby BA, Simpson A, Jacobsson B, Holloway JW, Bisgaard H, Sunyer J, Hensch NMP, Williams LK, Godfrey KM, Wang CA, Boomsma DI, Melbye M, Koppelman GH, Jarvis D, McLean WI, Irvine AD, Zhang XJ, Hakonarson H, Gieger C, Burchard EG, Martin NG, Duijts L, Linneberg A, Jarvelin MR, Noethen MM, Lau S, Hübner N, Lee YA, Tamari M, Hinds DA, Glass D, Brown SJ, Heinrich J, Evans DM, Weidinger S.

Nat Genet. 2015 Dec;47(12):1449-1456. doi: 10.1038/ng.3424. Epub 2015 Oct 19.

33.

Lysyl Hydroxylase 3 Localizes to Epidermal Basement Membrane and Is Reduced in Patients with Recessive Dystrophic Epidermolysis Bullosa.

Watt SA, Dayal JH, Wright S, Riddle M, Pourreyron C, McMillan JR, Kimble RM, Prisco M, Gartner U, Warbrick E, McLean WH, Leigh IM, McGrath JA, Salas-Alanis JC, Tolar J, South AP.

PLoS One. 2015 Sep 18;10(9):e0137639. doi: 10.1371/journal.pone.0137639. eCollection 2015.

34.

CRISPR/Cas9 DNA cleavage at SNP-derived PAM enables both in vitro and in vivo KRT12 mutation-specific targeting.

Courtney DG, Moore JE, Atkinson SD, Maurizi E, Allen EH, Pedrioli DM, McLean WH, Nesbit MA, Moore CB.

Gene Ther. 2016 Jan;23(1):108-12. doi: 10.1038/gt.2015.82. Epub 2015 Aug 20.

35.

Atopic dermatitis is associated with an increased risk for rheumatoid arthritis and inflammatory bowel disease, and a decreased risk for type 1 diabetes.

Schmitt J, Schwarz K, Baurecht H, Hotze M, Fölster-Holst R, Rodríguez E, Lee YAE, Franke A, Degenhardt F, Lieb W, Gieger C, Kabesch M, Nöthen MM, Irvine AD, McLean WHI, Deckert S, Stephan V, Schwarz P, Aringer M, Novak N, Weidinger S.

J Allergy Clin Immunol. 2016 Jan;137(1):130-136. doi: 10.1016/j.jaci.2015.06.029. Epub 2015 Aug 4.

PMID:
26253344
36.

Severe dermatitis, multiple allergies, and metabolic wasting syndrome caused by a novel mutation in the N-terminal plakin domain of desmoplakin.

McAleer MA, Pohler E, Smith FJ, Wilson NJ, Cole C, MacGowan S, Koetsier JL, Godsel LM, Harmon RM, Gruber R, Crumrine D, Elias PM, McDermott M, Butler K, Broderick A, Sarig O, Sprecher E, Green KJ, McLean WH, Irvine AD.

J Allergy Clin Immunol. 2015 Nov;136(5):1268-76. doi: 10.1016/j.jaci.2015.05.002. Epub 2015 Jun 12.

37.

Filaggrin breakdown products determine corneocyte conformation in patients with atopic dermatitis.

Riethmuller C, McAleer MA, Koppes SA, Abdayem R, Franz J, Haftek M, Campbell LE, MacCallum SF, McLean WHI, Irvine AD, Kezic S.

J Allergy Clin Immunol. 2015 Dec;136(6):1573-1580.e2. doi: 10.1016/j.jaci.2015.04.042. Epub 2015 Jun 11.

38.

Novel autosomal dominant mutation in loricrin presenting as prominent ichthyosis.

Pohler E, Cunningham F, Sandilands A, Cole C, Digby S, McMillan JR, Aristodemou S, McGrath JA, Smith FJ, McLean WH, Munro CS, Zamiri M.

Br J Dermatol. 2015 Nov;173(5):1291-4. doi: 10.1111/bjd.13895. Epub 2015 Aug 22. No abstract available.

39.

PCQoL: A Quality of Life Assessment Measure for Pachyonychia Congenita.

Abbas M, Schwartz ME, Smith FJ, McLean WH, Hull PR.

J Cutan Med Surg. 2015 Jan-Feb;19(1):57-65. doi: 10.2310/7750.2014.14017. Epub 2015 Jan 1.

PMID:
25775665
40.

Loss-of-function mutations in CAST cause peeling skin, leukonychia, acral punctate keratoses, cheilitis, and knuckle pads.

Lin Z, Zhao J, Nitoiu D, Scott CA, Plagnol V, Smith FJ, Wilson NJ, Cole C, Schwartz ME, McLean WH, Wang H, Feng C, Duo L, Zhou EY, Ren Y, Dai L, Chen Y, Zhang J, Xu X, O'Toole EA, Kelsell DP, Yang Y.

Am J Hum Genet. 2015 Mar 5;96(3):440-7. doi: 10.1016/j.ajhg.2014.12.026. Epub 2015 Feb 12.

41.

Novel TGM5 mutations in acral peeling skin syndrome.

van der Velden JJ, van Geel M, Nellen RG, Jonkman MF, McGrath JA, Nanda A, Sprecher E, van Steensel MA, McLean WH, Cassidy AJ.

Exp Dermatol. 2015 Apr;24(4):285-9. doi: 10.1111/exd.12650.

PMID:
25644735
42.

Mechanism and kinetic modeling of hydrogenation in the organic getter/palladium catalyst/activated carbon systems.

Dinh LN, Cairns GA, Strickland RA, McLean W 2nd, Maxwell RS.

J Phys Chem A. 2015 Feb 12;119(6):943-51. doi: 10.1021/jp511052a. Epub 2015 Feb 3.

PMID:
25626014
43.

Skin barrier dysfunction measured by transepidermal water loss at 2 days and 2 months predates and predicts atopic dermatitis at 1 year.

Kelleher M, Dunn-Galvin A, Hourihane JO, Murray D, Campbell LE, McLean WH, Irvine AD.

J Allergy Clin Immunol. 2015 Apr;135(4):930-5.e1. doi: 10.1016/j.jaci.2014.12.013. Epub 2015 Jan 22.

44.

Genome-wide comparative analysis of atopic dermatitis and psoriasis gives insight into opposing genetic mechanisms.

Baurecht H, Hotze M, Brand S, Büning C, Cormican P, Corvin A, Ellinghaus D, Ellinghaus E, Esparza-Gordillo J, Fölster-Holst R, Franke A, Gieger C, Hubner N, Illig T, Irvine AD, Kabesch M, Lee YA, Lieb W, Marenholz I, McLean WH, Morris DW, Mrowietz U, Nair R, Nöthen MM, Novak N, O'Regan GM; Psoriasis Association Genetics Extension, Schreiber S, Smith C, Strauch K, Stuart PE, Trembath R, Tsoi LC, Weichenthal M, Barker J, Elder JT, Weidinger S, Cordell HJ, Brown SJ.

Am J Hum Genet. 2015 Jan 8;96(1):104-20. doi: 10.1016/j.ajhg.2014.12.004. Erratum in: Am J Hum Genet. 2015 Dec 3;97(6):933.

45.

In vivo gene silencing following non-invasive siRNA delivery into the skin using a novel topical formulation.

Hegde V, Hickerson RP, Nainamalai S, Campbell PA, Smith FJ, McLean WH, Pedrioli DM.

J Control Release. 2014 Dec 28;196:355-62. doi: 10.1016/j.jconrel.2014.10.022. Epub 2014 Oct 30.

46.

Peanut allergy: effect of environmental peanut exposure in children with filaggrin loss-of-function mutations.

Brough HA, Simpson A, Makinson K, Hankinson J, Brown S, Douiri A, Belgrave DC, Penagos M, Stephens AC, McLean WH, Turcanu V, Nicolaou N, Custovic A, Lack G.

J Allergy Clin Immunol. 2014 Oct;134(4):867-875.e1. doi: 10.1016/j.jaci.2014.08.011.

47.

Emollient enhancement of the skin barrier from birth offers effective atopic dermatitis prevention.

Simpson EL, Chalmers JR, Hanifin JM, Thomas KS, Cork MJ, McLean WH, Brown SJ, Chen Z, Chen Y, Williams HC.

J Allergy Clin Immunol. 2014 Oct;134(4):818-23. doi: 10.1016/j.jaci.2014.08.005.

48.

Mutations in GRHL2 result in an autosomal-recessive ectodermal Dysplasia syndrome.

Petrof G, Nanda A, Howden J, Takeichi T, McMillan JR, Aristodemou S, Ozoemena L, Liu L, South AP, Pourreyron C, Dafou D, Proudfoot LE, Al-Ajmi H, Akiyama M, McLean WH, Simpson MA, Parsons M, McGrath JA.

Am J Hum Genet. 2014 Sep 4;95(3):308-14. doi: 10.1016/j.ajhg.2014.08.001. Epub 2014 Aug 21.

49.

A new filaggrin gene mutation in a Korean patient with ichthyosis vulgaris.

Ohguchi Y, Nomura T, Suzuki S, Mizuno O, Nomura Y, Nemoto-Hasebe I, Okamoto H, Sandilands A, Akiyama M, Mclean WH, Shimizu H.

Eur J Dermatol. 2014 Jul-Aug;24(4):491-3. doi: 10.1684/ejd.2014.2410. No abstract available.

PMID:
25115336
50.

Distribution of Na,K-ATPase α subunits in rat vestibular sensory epithelia.

Schuth O, McLean WJ, Eatock RA, Pyott SJ.

J Assoc Res Otolaryngol. 2014 Oct;15(5):739-54. doi: 10.1007/s10162-014-0479-3. Epub 2014 Aug 5.

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