Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

54 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Inherited duplications of PPP2R3B predispose to nevi and melanoma via a C21orf91-driven proliferative phenotype.
Polubothu S, Zecchin D, Al-Olabi L, Lionarons DA, Harland M, Horswell S, Thomas AC, Hunt L, Wlodarchak N, Aguilera P, Brand S, Bryant D, Carrera C, Chen H, Elgar G, Harwood CA, Howell M, Larue L, Loughlin S, MacDonald J, Malvehy J, Barberan SM, da Silva VM, Molina M, Morrogh D, Moulding D, Nsengimana J, Pittman A, Puig-Butillé JA, Parmar K, Sebire NJ, Scherer S, Stadnik P, Stanier P, Tell G, Waelchli R, Zarrei M, Puig S, Bataille V, Xing Y, Healy E, Moore GE, Di WL, Newton-Bishop J, Downward J, Kinsler VA. Polubothu S, et al. Among authors: di wl. Genet Med. 2021 Sep;23(9):1636-1647. doi: 10.1038/s41436-021-01204-y. Epub 2021 Jun 18. Genet Med. 2021. PMID: 34145395 Free PMC article.
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. Di WL, et al. Hum Gene Ther. 2019 Sep;30(9):1067-1078. doi: 10.1089/hum.2019.049. Epub 2019 Aug 5. Hum Gene Ther. 2019. PMID: 31288584 Clinical Trial.
Molecular Genetic Dissection of Inflammatory Linear Verrucous Epidermal Naevus Leads to Successful Targeted Therapy.
Riachi M, Polubothu S, Stadnik P, Hughes C, Martin SB, Charman CR, Cheng IL, Gholam K, Ogunbiyi O, Paige DG, Sebire NJ, Pittman A, Di WL, Kinsler VA. Riachi M, et al. Among authors: di wl. J Invest Dermatol. 2021 Dec;141(12):2979-2983.e1. doi: 10.1016/j.jid.2021.02.765. Epub 2021 Jun 8. J Invest Dermatol. 2021. PMID: 34116062 Free PMC article. No abstract available.
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. Naeem AS, et al. Among authors: di wl. J Allergy Clin Immunol. 2017 Apr;139(4):1228-1241. doi: 10.1016/j.jaci.2016.09.052. Epub 2016 Nov 29. J Allergy Clin Immunol. 2017. PMID: 27913303 Free PMC article.
54 results