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

21 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
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. Takeichi T, et al. Among authors: lee jyw. J Invest Dermatol. 2017 Nov;137(11):2344-2353. doi: 10.1016/j.jid.2017.06.028. Epub 2017 Jul 31. J Invest Dermatol. 2017. PMID: 28774589 Free PMC article.
Recurrent KRT10 Variant in Ichthyosis with Confetti.
Takeichi T, Suga Y, Mizuno T, Okuno Y, Ichikawa D, Kono M, Lee JYW, McGrath JA, Akiyama M. Takeichi T, et al. Among authors: lee jyw. Acta Derm Venereol. 2020 Jul 2;100(14):adv00209. doi: 10.2340/00015555-3570. Acta Derm Venereol. 2020. PMID: 32556352 Free PMC article. No abstract available.
Loss of RhoE Function in Dermatofibroma Promotes Disorganized Dermal Fibroblast Extracellular Matrix and Increased Integrin Activation.
Endzhievskaya S, Hsu CK, Yang HS, Huang HY, Lin YC, Hong YK, Lee JYW, Onoufriadis A, Takeichi T, Yu-Yun Lee J, Shaw TJ, McGrath JA, Parsons M. Endzhievskaya S, et al. Among authors: lee jyw. J Invest Dermatol. 2023 Aug;143(8):1487-1497.e9. doi: 10.1016/j.jid.2023.01.019. Epub 2023 Feb 10. J Invest Dermatol. 2023. PMID: 36774976 Free article.
Autoinflammatory Keratinization Disease With Hepatitis and Autism Reveals Roles for JAK1 Kinase Hyperactivity in Autoinflammation.
Takeichi T, Lee JYW, Okuno Y, Miyasaka Y, Murase Y, Yoshikawa T, Tanahashi K, Nishida E, Okamoto T, Ito K, Muro Y, Sugiura K, Ohno T, McGrath JA, Akiyama M. Takeichi T, et al. Among authors: lee jyw. Front Immunol. 2022 Jan 3;12:737747. doi: 10.3389/fimmu.2021.737747. eCollection 2021. Front Immunol. 2022. PMID: 35046931 Free PMC article.
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. Lee JYW, et al. Among authors: lee jyy. Am J Hum Genet. 2017 Feb 2;100(2):364-370. doi: 10.1016/j.ajhg.2017.01.014. Am J Hum Genet. 2017. PMID: 28157540 Free PMC article.
Congenital Anonychia and Uncombable Hair Syndrome: Coinheritance of Homozygous Mutations in RSPO4 and PADI3.
Hsu CK, Romano MT, Nanda A, Rashidghamat E, Lee JYW, Huang HY, Songsantiphap C, Lee JY, Al-Ajmi H, Betz RC, Simpson MA, McGrath JA, Tziotzios C. Hsu CK, et al. Among authors: lee jy, lee jyw. J Invest Dermatol. 2017 May;137(5):1176-1179. doi: 10.1016/j.jid.2016.12.015. Epub 2017 Jan 10. J Invest Dermatol. 2017. PMID: 28087452 Free article. No abstract available.
21 results