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Items: 44

1.

Allele-Specific Small Interfering RNA Corrects Aberrant Cellular Phenotype in Keratitis-Ichthyosis-Deafness Syndrome Keratinocytes.

Lee MY, Wang HZ, White TW, Brooks T, Pittman A, Halai H, Petrova A, Xu D, Hart SL, Kinsler VA, Di WL.

J Invest Dermatol. 2019 Nov 6. pii: S0022-202X(19)33381-0. doi: 10.1016/j.jid.2019.09.022. [Epub ahead of print]

PMID:
31705875
2.

Human Mesenchymal Stromal Cells Engineered to Express Collagen VII Can Restore Anchoring Fibrils in Recessive Dystrophic Epidermolysis Bullosa Skin Graft Chimeras.

Petrova A, Georgiadis C, Fleck RA, Allison L, McGrath JA, Dazzi F, Di WL, Qasim W.

J Invest Dermatol. 2020 Jan;140(1):121-131.e6. doi: 10.1016/j.jid.2019.05.031. Epub 2019 Jul 19.

PMID:
31326396
3.

Generation and Clinical Application of Gene-Modified Autologous Epidermal Sheets in Netherton Syndrome: Lessons Learned from a Phase 1 Trial.

Di WL, Lwin SM, Petrova A, Bernadis C, Syed F, Farzaneh F, Moulding D, Martinez AE, Sebire NJ, Rampling D, Virasami A, Zamiri M, Wang W, Hara H, Kadiyirire T, Abdul-Wahab A, Martinez-Queipo M, Harper JI, McGrath JA, Thrasher AJ, Mellerio JE, Qasim W.

Hum Gene Ther. 2019 Sep;30(9):1067-1078. doi: 10.1089/hum.2019.049. Epub 2019 Aug 5.

PMID:
31288584
4.

Safety and early efficacy outcomes for lentiviral fibroblast gene therapy in recessive dystrophic epidermolysis bullosa.

Lwin SM, Syed F, Di WL, Kadiyirire T, Liu L, Guy A, Petrova A, Abdul-Wahab A, Reid F, Phillips R, Elstad M, Georgiadis C, Aristodemou S, Lovell PA, McMillan JR, Mee J, Miskinyte S, Titeux M, Ozoemena L, Pramanik R, Serrano S, Rowles R, Maurin C, Orrin E, Martinez-Queipo M, Rashidghamat E, Tziotzios C, Onoufriadis A, Chen M, Chan L, Farzaneh F, Del Rio M, Tolar J, Bauer JW, Larcher F, Antoniou MN, Hovnanian A, Thrasher AJ, Mellerio JE, Qasim W, McGrath JA.

JCI Insight. 2019 Jun 6;4(11). pii: 126243. doi: 10.1172/jci.insight.126243. eCollection 2019 Jun 6.

5.

Absence of γ-Chain in Keratinocytes Alters Chemokine Secretion, Resulting in Reduced Immune Cell Recruitment.

Nowak K, Linzner D, Thrasher AJ, Lambert PF, Di WL, Burns SO.

J Invest Dermatol. 2017 Oct;137(10):2120-2130. doi: 10.1016/j.jid.2017.05.024. Epub 2017 Jun 17.

6.

Persistent kallikrein 5 activation induces atopic dermatitis-like skin architecture independent of PAR2 activity.

Zhu Y, Underwood J, Macmillan D, Shariff L, O'Shaughnessy R, Harper JI, Pickard C, Friedmann PS, Healy E, Di WL.

J Allergy Clin Immunol. 2017 Nov;140(5):1310-1322.e5. doi: 10.1016/j.jaci.2017.01.025. Epub 2017 Feb 24.

PMID:
28238749
7.

A mechanistic target of rapamycin complex 1/2 (mTORC1)/V-Akt murine thymoma viral oncogene homolog 1 (AKT1)/cathepsin H axis controls filaggrin expression and processing in skin, a novel mechanism for skin barrier disruption in patients with atopic dermatitis.

Naeem AS, Tommasi C, Cole C, Brown SJ, Zhu Y, Way B, Willis Owen SA, Moffatt M, Cookson WO, Harper JI, Di WL, Brown SJ, Reinheckel T, O'Shaughnessy RF.

J Allergy Clin Immunol. 2017 Apr;139(4):1228-1241. doi: 10.1016/j.jaci.2016.09.052. Epub 2016 Nov 29.

8.

Tissue Kallikrein Inhibitors Based on the Sunflower Trypsin Inhibitor Scaffold - A Potential Therapeutic Intervention for Skin Diseases.

Chen W, Kinsler VA, Macmillan D, Di WL.

PLoS One. 2016 Nov 8;11(11):e0166268. doi: 10.1371/journal.pone.0166268. eCollection 2016.

9.

Induced Pluripotent Stem Cell Differentiation and Three-Dimensional Tissue Formation Attenuate Clonal Epigenetic Differences in Trichohyalin.

Petrova A, Capalbo A, Jacquet L, Hazelwood-Smith S, Dafou D, Hobbs C, Arno M, Farcomeni A, Devito L, Badraiq H, Simpson M, McGrath JA, Di WL, Cheng JB, Mauro TM, Ilic D.

Stem Cells Dev. 2016 Sep 15;25(18):1366-75. doi: 10.1089/scd.2016.0156. Epub 2016 Aug 30.

10.

Lentiviral Engineered Fibroblasts Expressing Codon-Optimized COL7A1 Restore Anchoring Fibrils in RDEB.

Georgiadis C, Syed F, Petrova A, Abdul-Wahab A, Lwin SM, Farzaneh F, Chan L, Ghani S, Fleck RA, Glover L, McMillan JR, Chen M, Thrasher AJ, McGrath JA, Di WL, Qasim W.

J Invest Dermatol. 2016 Jan;136(1):284-92. doi: 10.1038/JID.2015.364.

11.

Lentiviral Engineered Fibroblasts Expressing Codon Optimized COL7A1 Restore Anchoring Fibrils in RDEB.

Georgiadis C, Syed F, Petrova A, Abdul-Wahab A, Lwin SM, Farzaneh F, Chan L, Ghani S, Fleck RA, Glover L, McMillan JR, Chen M, Thrasher AJ, McGrath JA, Di WL, Qasim W.

J Invest Dermatol. 2015 Sep 22. doi: 10.1038/jid.2015.364. [Epub ahead of print]

PMID:
26394110
12.

Expanding the scope of N → S acyl transfer in native peptide sequences.

Cowper B, Shariff L, Chen W, Gibson SM, Di WL, Macmillan D.

Org Biomol Chem. 2015 Jul 21;13(27):7469-76. doi: 10.1039/c5ob01029b.

PMID:
26066020
13.

AKT1-mediated Lamin A/C degradation is required for nuclear degradation and normal epidermal terminal differentiation.

Naeem AS, Zhu Y, Di WL, Marmiroli S, O'Shaughnessy RF.

Cell Death Differ. 2015 Dec;22(12):2123-32. doi: 10.1038/cdd.2015.62. Epub 2015 Jun 5.

14.

Phase I study protocol for ex vivo lentiviral gene therapy for the inherited skin disease, Netherton syndrome.

Di WL, Mellerio JE, Bernadis C, Harper J, Abdul-Wahab A, Ghani S, Chan L, Martinez-Queipo M, Hara H, McNicol AM, Farzaneh F, McGrath J, Thrasher A, Qasim W.

Hum Gene Ther Clin Dev. 2013 Dec;24(4):182-90. doi: 10.1089/humc.2013.195.

PMID:
24329107
15.

Phase I study protocol for ex-vivo lentiviral gene therapy for the inherited skin disease, Netherton Syndrome.

Di WL, Mellerio JE, Bernadis C, Harper J, Abdul-Wahab A, Ghani S, Martinez-Queipo M, Hara H, McNicol AM, McGrath J, Thrasher AJ, Qasim W.

Hum Gene Ther Clin Dev. 2013 Oct 18. [Epub ahead of print]

PMID:
24138501
16.

Harlequin ichthyosis: ABCA12 mutations underlie defective lipid transport, reduced protease regulation and skin-barrier dysfunction.

Scott CA, Rajpopat S, Di WL.

Cell Tissue Res. 2013 Feb;351(2):281-8. doi: 10.1007/s00441-012-1474-9. Epub 2012 Aug 4. Review.

PMID:
22864982
17.

The identification of a new role for LEKTI in the skin: The use of protein 'bait' arrays to detect defective trafficking of dermcidin in the skin of patients with Netherton syndrome.

Bennett K, Heywood W, Di WL, Harper J, Clayman GL, Jayakumar A, Callard R, Mills K.

J Proteomics. 2012 Jul 16;75(13):3925-37. doi: 10.1016/j.jprot.2012.04.045. Epub 2012 May 12.

PMID:
22588119
18.

Inflammatory skin and bowel disease linked to ADAM17 deletion.

Blaydon DC, Biancheri P, Di WL, Plagnol V, Cabral RM, Brooke MA, van Heel DA, Ruschendorf F, Toynbee M, Walne A, O'Toole EA, Martin JE, Lindley K, Vulliamy T, Abrams DJ, MacDonald TT, Harper JI, Kelsell DP.

N Engl J Med. 2011 Oct 20;365(16):1502-8. doi: 10.1056/NEJMoa1100721.

19.

Human involucrin promoter mediates repression-resistant and compartment-specific LEKTI expression.

Di WL, Semenova E, Larcher F, Del Rio M, Harper JI, Thrasher AJ, Qasim W.

Hum Gene Ther. 2012 Jan;23(1):83-90. doi: 10.1089/hum.2011.091.

20.

Ex-vivo gene therapy restores LEKTI activity and corrects the architecture of Netherton syndrome-derived skin grafts.

Di WL, Larcher F, Semenova E, Talbot GE, Harper JI, Del Rio M, Thrasher AJ, Qasim W.

Mol Ther. 2011 Feb;19(2):408-16. doi: 10.1038/mt.2010.201. Epub 2010 Sep 28.

21.

New role for LEKTI in skin barrier formation: label-free quantitative proteomic identification of caspase 14 as a novel target for the protease inhibitor LEKTI.

Bennett K, Callard R, Heywood W, Harper J, Jayakumar A, Clayman GL, Di WL, Mills K.

J Proteome Res. 2010 Aug 6;9(8):4289-94. doi: 10.1021/pr1003467.

PMID:
20533828
22.

A heterozygous null mutation combined with the G1258A polymorphism of SPINK5 causes impaired LEKTI function and abnormal expression of skin barrier proteins.

Di WL, Hennekam RC, Callard RE, Harper JI.

Br J Dermatol. 2009 Aug;161(2):404-12. doi: 10.1111/j.1365-2133.2009.09231.x. Epub 2009 May 12.

PMID:
19438860
23.

Connexin interaction patterns in keratinocytes revealed morphologically and by FRET analysis.

Di WL, Gu Y, Common JE, Aasen T, O'Toole EA, Kelsell DP, Zicha D.

J Cell Sci. 2005 Apr 1;118(Pt 7):1505-14. Epub 2005 Mar 15.

24.
25.

Further evidence for heterozygote advantage of GJB2 deafness mutations: a link with cell survival.

Common JE, Di WL, Davies D, Kelsell DP.

J Med Genet. 2004 Jul;41(7):573-5. No abstract available.

26.

Aberrant gating, but a normal expression pattern, underlies the recessive phenotype of the deafness mutant Connexin26M34T.

Skerrett IM, Di WL, Kasperek EM, Kelsell DP, Nicholson BJ.

FASEB J. 2004 May;18(7):860-2. Epub 2004 Mar 19.

PMID:
15033936
27.

Cellular mechanisms of mutant connexins in skin disease and hearing loss.

Common JE, Di WL, Davies D, Galvin H, Leigh IM, O'Toole EA, Kelsell DP.

Cell Commun Adhes. 2003 Jul-Dec;10(4-6):347-51.

PMID:
14681040
28.

Functional studies of human skin disease- and deafness-associated connexin 30 mutations.

Common JE, Becker D, Di WL, Leigh IM, O'Toole EA, Kelsell DP.

Biochem Biophys Res Commun. 2002 Nov 15;298(5):651-6.

PMID:
12419304
29.

Defective trafficking and cell death is characteristic of skin disease-associated connexin 31 mutations.

Di WL, Monypenny J, Common JE, Kennedy CT, Holland KA, Leigh IM, Rugg EL, Zicha D, Kelsell DP.

Hum Mol Genet. 2002 Aug 15;11(17):2005-14.

PMID:
12165562
30.

Connexin 26 expression and mutation analysis in epidermal disease.

Di WL, Common JE, Kelsell DP.

Cell Commun Adhes. 2001;8(4-6):415-8.

PMID:
12064628
31.

A mutation in GJB3 is associated with recessive erythrokeratodermia variabilis (EKV) and leads to defective trafficking of the connexin 31 protein.

Gottfried I, Landau M, Glaser F, Di WL, Ophir J, Mevorah B, Ben-Tal N, Kelsell DP, Avraham KB.

Hum Mol Genet. 2002 May 15;11(11):1311-6.

PMID:
12019212
32.

Multiple epidermal connexins are expressed in different keratinocyte subpopulations including connexin 31.

Di WL, Rugg EL, Leigh IM, Kelsell DP.

J Invest Dermatol. 2001 Oct;117(4):958-64.

33.

Oestriol and oestradiol increase cell to cell communication and connexin43 protein expression in human myometrium.

Di WL, Lachelin GC, McGarrigle HH, Thomas NS, Becker DL.

Mol Hum Reprod. 2001 Jul;7(7):671-9.

PMID:
11420391
34.

Connexin mutations in skin disease and hearing loss.

Kelsell DP, Di WL, Houseman MJ.

Am J Hum Genet. 2001 Mar;68(3):559-68. Epub 2001 Jan 25. Review. No abstract available.

35.

Genetic analysis of the connexin-26 M34T variant: identification of genotype M34T/M34T segregating with mild-moderate non-syndromic sensorineural hearing loss.

Houseman MJ, Ellis LA, Pagnamenta A, Di WL, Rickard S, Osborn AH, Dahl HH, Taylor GR, Bitner-Glindzicz M, Reardon W, Mueller RF, Kelsell DP.

J Med Genet. 2001 Jan;38(1):20-5.

36.

The pineal and extra-pineal origins of 5-sulphatoxy N-acetyl-serotonin in humans.

Di WL, Djahanbakhch O, Kadva A, Street C, Silman R.

J Pineal Res. 1999 May;26(4):221-6.

PMID:
10340724
37.

Elevated nocturnal melatonin is a consequence of gonadotropin-releasing hormone deficiency in women with hypothalamic amenorrhea.

Kadva A, Djahanbakhch O, Monson J, Di WL, Silman R.

J Clin Endocrinol Metab. 1998 Oct;83(10):3653-62.

PMID:
9768680
38.

Radioimmunoassay of bound and free melatonin in plasma.

Di WL, Kadva A, Djahanbakhch O, Silman R.

Clin Chem. 1998 Feb;44(2):304-10.

39.

Variable bioavailability of oral melatonin.

Di WL, Kadva A, Johnston A, Silman R.

N Engl J Med. 1997 Apr 3;336(14):1028-9. No abstract available.

PMID:
9091795
40.

The purification and characterization of biological 6-sulphatoxymelatonin and comparison with synthetic 6-sulphatoxymelatonin.

Street CA, Di WL, Peniston-Bird JF, Patel S, Sadler P, Silman RE.

J Pineal Res. 1996 Mar;20(2):98-114.

PMID:
8815194
41.

An enzyme immunoassay for 6-sulphatoxy-melatonin in human urine.

Peniston-Bird JF, Di WL, Street CA, Edwards R, Little JA, Silman RE.

J Pineal Res. 1996 Mar;20(2):51-6.

PMID:
8815187
42.

Evidence for the Bauman variant in Kallmann's syndrome.

Kadva A, Di WL, Djahanbakhch O, Monson J, Silman R.

Clin Endocrinol (Oxf). 1996 Jan;44(1):103-10.

PMID:
8706281
43.

HPLC assay of melatonin in plasma with fluorescence detection.

Peniston-Bird JF, Di WL, Street CA, Kadva A, Stalteri MA, Silman RE.

Clin Chem. 1993 Nov;39(11 Pt 1):2242-7.

44.

[Effects of anisodamine on blood coagulation, fibrin and thrombosis in rabbits].

Xu QY, Liu WX, Chen CM, Di WL.

Zhongguo Yao Li Xue Bao. 1990 Jan;11(1):44-7. Chinese.

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