相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。Increased expression profile of NCSTN, Notch and PI3K/AKT3 in hidradenitis suppurativa
S. Hessam et al.
JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY (2021)
AKT-dependent hyperproliferation of keratinocytes in familial hidradenitis suppurativa with a NCSTN mutation: a potential role of defective miR-100-5p
Y. He et al.
BRITISH JOURNAL OF DERMATOLOGY (2020)
Low Prevalence of GSC Gene Mutations in a Large Cohort of Predominantly Caucasian Patients with Hidradenitis Suppurativa
Sabine Duchatelet et al.
JOURNAL OF INVESTIGATIVE DERMATOLOGY (2020)
Alterations in innate immunity and epithelial cell differentiation are the molecular pillars of hidradenitis suppurativa
C. C. Zouboulis et al.
JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY (2020)
Unraveling the complexity of γ-secretase
Michael S. Wolfe
SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY (2020)
Hair follicle stem cell replication stress drives IFI16/STING-dependent inflammation in hidradenitis suppurativa
Cindy Orvain et al.
JOURNAL OF CLINICAL INVESTIGATION (2020)
Aetiology and pathogenesis of hidradenitis suppurativa
K. Wolk et al.
BRITISH JOURNAL OF DERMATOLOGY (2020)
Comorbidities or different entities? Phenotype variability associated with PSENEN mutations
W. Li et al.
BRITISH JOURNAL OF DERMATOLOGY (2019)
Inter-rater reliability of phenotypes and exploratory genotype-phenotype analysis in inherited hidradenitis suppurativa
J. W. Frew et al.
BRITISH JOURNAL OF DERMATOLOGY (2019)
Analysis of hidradenitis suppurativa-linked mutations in four genes and the effects of PSEN1-P242LfsX11 on cytokine and chemokine expression in macrophages
Airong Li et al.
HUMAN MOLECULAR GENETICS (2019)
Acne and hidradenitis suppurativa
A. Pink et al.
BRITISH JOURNAL OF DERMATOLOGY (2018)
A unique clinical phenotype of a patient bearing a newly identified deletion mutation in the PSENEN gene along with the pathogenic serum desmoglein-1 antibody
T. Kan et al.
CLINICAL AND EXPERIMENTAL DERMATOLOGY (2018)
Intra- and Interfamilial Phenotype Variability Associated with Mutations in γ-Secretase Subunit-Encoding PSENEN
Jorge Frank et al.
JOURNAL OF INVESTIGATIVE DERMATOLOGY (2018)
Hidradenitis Suppurativa: A Systematic Review Integrating Inflammatory Pathways Into a Cohesive Pathogenic Model
Allard R. J. V. Vossen et al.
FRONTIERS IN IMMUNOLOGY (2018)
Epidermal mTORC1 Signaling Contributes to the Pathogenesis of Psoriasis and Could Serve as a Therapeutic Target
Claudia Buerger
FRONTIERS IN IMMUNOLOGY (2018)
PSENEN Mutation Carriers with Co-manifestation of Acne Inversa (AI) and Dowling-Degos Disease (DDD): Is AI or DDD the Subphenotype?
Chengrang Li et al.
JOURNAL OF INVESTIGATIVE DERMATOLOGY (2017)
A systematic review and critical evaluation of reported pathogenic sequence variants in hidradenitis suppurativa
J. W. Frew et al.
BRITISH JOURNAL OF DERMATOLOGY (2017)
Mechanistic target of rapamycin (mTOR) expression is increased in acne patients' skin
Giuseppe Monfrecola et al.
EXPERIMENTAL DERMATOLOGY (2016)
Mammalian target of rapamycin, insulin resistance and hidradenitis suppurativa: a possible metabolic loop
G. Monfrecola et al.
JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY (2016)
Physiological and pathological roles of the γ-secretase complex
Courtney M. Carroll et al.
BRAIN RESEARCH BULLETIN (2016)
Hidradenitis suppurativa: haploinsufficiency of gamma-secretase components does not affect gamma-secretase enzyme activity in vitro
A. E. Pink et al.
BRITISH JOURNAL OF DERMATOLOGY (2016)
Nicastrin mutations in familial acne inversa impact keratinocyte proliferation and differentiation through the Notch and phosphoinositide 3-kinase/AKT signalling pathways
X. Xiao et al.
BRITISH JOURNAL OF DERMATOLOGY (2016)
Novel Mutations in PSENEN Gene in Two Chinese Acne Inversa Families Manifested as Familial Multiple Comedones and Dowling-Degos Disease
Cheng Zhou et al.
CHINESE MEDICAL JOURNAL (2016)
The Genetics of Hidradenitis Suppurativa
John R. Ingram
DERMATOLOGIC CLINICS (2016)
The topology of pen-2, a γ-secretase subunit, revisited: evidence for a reentrant loop and a single pass transmembrane domain
Xulun Zhang et al.
MOLECULAR NEURODEGENERATION (2015)
An atomic structure of human γ-secretase
Xiao-chen Bai et al.
NATURE (2015)
Structural basis of human γ-secretase assembly
Linfeng Sun et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2015)
Pen-2 Is Essential for γ-Secretase Complex Stability and Trafficking but Partially Dispensable for Endoproteolysis
Oliver Holmes et al.
BIOCHEMISTRY (2014)
A novel NCSTN mutation alone may be insufficient for the development of familial hidradenitis suppurativa
Yukiko Nomura et al.
JOURNAL OF DERMATOLOGICAL SCIENCE (2014)
The Many Substrates of Presenilin/gamma-Secretase
Annakaisa Haapasalo et al.
JOURNAL OF ALZHEIMERS DISEASE (2011)
PSENEN and NCSTN Mutations in Familial Hidradenitis Suppurativa (Acne Inversa)
Andrew E. Pink et al.
JOURNAL OF INVESTIGATIVE DERMATOLOGY (2011)
γ-Secretase Gene Mutations in Familial Acne Inversa
Baoxi Wang et al.
SCIENCE (2010)
Notch signaling in bulge stem cells is not required for selection of hair follicle fate
Shadmehr Demehri et al.
DEVELOPMENT (2009)
Co-expressed presenilin 1 NTF and CTF form functional γ-secretase complexes in cells devoid of full-length protein
H Laudon et al.
JOURNAL OF NEUROCHEMISTRY (2004)
Both the sequence and length of the C terminus of PEN-2 are critical for intermolecular interactions and function of presenilin complexes
H Hasegawa et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2004)
Immature nicastrin stabilizes APH-1 independent of PEN-2 and presenilin: identification of nicastrin mutants that selectively interact with APH-1
K Shirotani et al.
JOURNAL OF NEUROCHEMISTRY (2004)
Differential utilization and localization of ErbB receptor tyrosine kinases in skin compared to normal and malignant keratinocytes
SW Stoll et al.
NEOPLASIA (2001)