Suchergebnisse - "PSENEN protein, human"

PubPharm (124)

21

Novel POFUT1 mutation associated with hidradenitis suppurativa-Dowling-Degos disease firm up a role for Notch signalling in the pathogenesis of this disorder : reply from the authors

enthalten in: The British journal of dermatology | 2018

von Pavlovsky, M. | Sarig, O. | Eskin-Schwartz, M. | +2

CommentOn: Br J Dermatol. 2018 Feb;178(2):502-508. - PMID 28922471

22

A phenotype combining hidradenitis suppurativa with Dowling-Degos disease caused by a founder mutation in PSENEN

enthalten in: The British journal of dermatology | 2018

von Pavlovsky, M. | Sarig, O. | Eskin-Schwartz, M. | +7

CommentIn: Br J Dermatol. 2018 Apr;178(4):986. - PMID 29274076

23

Concurrent hidradenitis suppurativa and Dowling-Degos disease taken down a 'Notch'

enthalten in: The British journal of dermatology | 2018

von McGrath, J.

CommentOn: Br J Dermatol. 2018 Feb;178(2):502-508. - PMID 28922471

24

Dominant negative effect of the loss-of-function γ-secretase mutants on the wild-type enzyme through heterooligomerization

enthalten in: Proceedings of the National Academy of Sciences of the United States of America | 2017

von Zhou, R. | Yang, G. | Shi, Y.

CommentIn: Proc Natl Acad Sci U S A. 2017 Nov 28;114(48):12635-12637. - PMID 29142009

25

PSENEN Mutation Carriers with Co-manifestation of Acne Inversa (AI) and Dowling-Degos Disease (DDD) : Is AI or DDD the Subphenotype?

enthalten in: The Journal of investigative dermatology | 2017

von Li, C. | Li, W. | Xu, H. | +5

CommentOn: J Clin Invest. 2017 Apr 3;127(4):1485-1490. - PMID 28287404

26

Mitochondria are devoid of amyloid β-protein (Aβ)-producing secretases : Evidence for unlikely occurrence within mitochondria of Aβ generation from amyloid precursor protein

enthalten in: Biochemical and biophysical research communications | 2017

von Mamada, N. | Tanokashira, D. | Ishii, K. | +2

27

Mutations in γ-secretase subunit-encoding PSENEN underlie Dowling-Degos disease associated with acne inversa

enthalten in: The Journal of clinical investigation | 2017

von Ralser, D. | Basmanav, F. | Tafazzoli, A. | +15

CommentIn: J Invest Dermatol. 2017 Oct;137(10):2234-2236. - PMID 28601418

28

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

enthalten in: Chinese medical journal | 2016

von Zhou, C. | Wen, G. | Soe, L. | +3

29

Hidradenitis suppurativa : haploinsufficiency of gamma-secretase components does not affect gamma-secretase enzyme activity in vitro

enthalten in: The British journal of dermatology | 2016

von Pink, A. | Dafou, D. | Desai, N. | +7

30

A Case Report of Inversa Acne and Evaluation for Mutations in the NCSTN, PSENEN, and PSEN1 Genes

enthalten in: Chinese medical journal | 2016

von Guo, B. | Li, C. | Zhu, Q. | +3