PMC Articles for MedGen (Select 1631104) - PMC

Select item 103727571.

NCSTN In-Frame Deletion in Maltese Patients With Hidradenitis Suppurativa

Dillon Mintoff, Nikolai Paul Pace, Isabella Borg

JAMA Dermatol. 2023 Sep; 159(9): 939–944. Published online 2023 Jul 26. doi: 10.1001/jamadermatol.2023.2227

PMCID:: PMC10372757

Select item 100665612.

Rare missense variants in the SH3 domain of PSTPIP1 are associated with hidradenitis suppurativa

David J. Morales-Heil, Li Cao, Cheryl Sweeney, Anna Malara, Frank Brown, Philip Milam, Milan Anadkat, Jessica Kaffenberger, Benjamin Kaffenberger, Peter Nagele, Brian Kirby, Elisha D.O. Roberson

HGG Adv. 2023 Apr 13; 4(2): 100187. Published online 2023 Mar 13. doi: 10.1016/j.xhgg.2023.100187

PMCID:: PMC10066561

Abstract Article PDF–3.1M

Select item 89708043.

A Novel NCSTN Mutation in a Three-Generation Chinese Family with Hidradenitis Suppurative

Chengling Liu, Xingchen Liu, Rui Wang, Lang Chen, Hua Zhao, Yong Zhou

J Healthc Eng. 2022; 2022: 1540774. Published online 2022 Mar 24. doi: 10.1155/2022/1540774

Retraction in:: J Healthc Eng. 2023; 2023: 9801943.

PMCID:: PMC8970804

Abstract Article

Select item 84914994.

γ-Secretase Genetics of Hidradenitis Suppurativa: A Systematic Literature Review

Zhongshuai Wang, Yan Yan, Baoxi Wang

Dermatology. 2021 Aug; 237(5): 698–704. Published online 2020 Dec 17. doi: 10.1159/000512455

PMCID:: PMC8491499

Abstract Article

Select item 75869435.

A novel nicastrin mutation in a three‐generation Dutch family with hidradenitis suppurativa: a search for functional significance

A.R.J.V. Vossen, K.R. van Straalen, S.M.A. Swagemakers, J.E.M.M. de Klein, A.P. Stubbs, D.J. Venter, H.H. van der Zee, P.J. van der Spek, E.P. Prens

J Eur Acad Dermatol Venereol. 2020 Oct; 34(10): 2353–2361. Published online 2020 Mar 12. doi: 10.1111/jdv.16310

PMCID:: PMC7586943

Abstract Article PDF–1.8M

Select item 70606626.

Essential requirement for nicastrin in marginal zone and B-1 B cell development

Jin Huk Choi, Jonghee Han, Panayotis C. Theodoropoulos, Xue Zhong, Jianhui Wang, Dawson Medler, Sara Ludwig, Xiaoming Zhan, Xiaohong Li, Miao Tang, Thomas Gallagher, Gang Yu, Bruce Beutler

Proc Natl Acad Sci U S A. 2020 Mar 3; 117(9): 4894–4901. Published online 2020 Feb 18. doi: 10.1073/pnas.1916645117

PMCID:: PMC7060662

Abstract Article PDF–1.7M

Select item 70297787.

Nicastrin haploinsufficiency alters expression of type I interferon-stimulated genes: the relationship to familial hidradenitis suppurativa

L. Cao, D. J. Morales-Heil, E. D. O. Roberson

Clin Exp Dermatol. Author manuscript; available in PMC 2020 Jun 1.

Published in final edited form as: Clin Exp Dermatol. 2019 Jun; 44(4): e118–e125. Published online 2019 Jan 17. doi: 10.1111/ced.13906

PMCID:: PMC7029778

Abstract Article PDF–651K

Select item 51467928.

Novel Mutations in PSENEN Gene in Two Chinese Acne Inversa Families Manifested as Familial Multiple Comedones and Dowling-Degos Disease

Cheng Zhou, Guang-Dong Wen, Lwin Myint Soe, Hong-Jun Xu, Juan Du, Jian-Zhong Zhang

Chin Med J (Engl) 2016 Dec 5; 129(23): 2834–2839. doi: 10.4103/0366-6999.194648

PMCID:: PMC5146792

Abstract Article PDF–1.3M

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