Inborn errors of immunity in hidradenitis suppurativa pathogenesis and disease burden
A Colvin, L Petukhova - Journal of Clinical Immunology, 2023 - Springer
Hidradenitis suppurativa (HS), also known as Verneuil's disease and acne inversa, is a
prevalent, debilitating, and understudied inflammatory skin disease. It is marked by repeated …
prevalent, debilitating, and understudied inflammatory skin disease. It is marked by repeated …
[HTML][HTML] Presenilins as drug targets for Alzheimer's disease—recent insights from cell biology and electrophysiology as novel opportunities in drug development
RS Duncan, B Song, P Koulen - International journal of molecular …, 2018 - mdpi.com
A major cause underlying familial Alzheimer's disease (AD) are mutations in presenilin
proteins, presenilin 1 (PS1) and presenilin 2 (PS2). Presenilins are components of the γ …
proteins, presenilin 1 (PS1) and presenilin 2 (PS2). Presenilins are components of the γ …
Novel Mutations in PSENEN Gene in Two Chinese Acne Inversa Families Manifested as Familial Multiple Comedones and Dowling-Degos Disease
C Zhou, GD Wen, LM Soe, HJ Xu, J Du… - Chinese medical …, 2016 - mednexus.org
Background: Acne inversa (AI), also called hidradenitis suppurativa, is a chronic,
inflammatory, recurrent skin disease of the hair follicle. Familial AI shows autosomal …
inflammatory, recurrent skin disease of the hair follicle. Familial AI shows autosomal …
Precision medicine in Thailand
V Shotelersuk, S Tongsima… - American Journal of …, 2019 - Wiley Online Library
Extraordinary advances in high throughput next generation sequencing (NGS) technology
and bioinformatics are the main thrust that transforms the current state of healthcare into the …
and bioinformatics are the main thrust that transforms the current state of healthcare into the …
Comedonal Darier's disease: six additional cases and a review of this entity
M Llamas-Velasco, W Kempf… - … = Journal of the …, 2020 - pubmed.ncbi.nlm.nih.gov
Comedonal Darier's disease: six additional cases and a review of this entity Comedonal
Darier's disease: six additional cases and a review of this entity J Dtsch Dermatol Ges. 2020 …
Darier's disease: six additional cases and a review of this entity J Dtsch Dermatol Ges. 2020 …
Comorbidities or different entities? Phenotype variability associated with PSENEN mutations
W Li, H Xu, Y He, L Lin, C Li - British Journal of Dermatology, 2019 - academic.oup.com
DEAR EDITOR, Acne inversa (AI), also called hidradenitis suppurativa, is a clinically
heterogeneous skin disease characterized by painful boils, cysts, abscesses, sinus tracts …
heterogeneous skin disease characterized by painful boils, cysts, abscesses, sinus tracts …
A novel mutation of the NCSTN gene in a Chinese hidradenitis suppurativa family with familial comedones as the main clinical manifestation.
Z Zhang, B Zhang, Y Guo, J Chen… - International …, 2022 - search.ebscohost.com
Some inflammatory lesions coexist with comedones. 3 Also, Panmontha et al. 4 identified a
mutation of PEN-2 in familial comedones that have the same causative gene as HS. In this …
mutation of PEN-2 in familial comedones that have the same causative gene as HS. In this …
[HTML][HTML] Intra-and interfamilial phenotype variability associated with mutations in γ-secretase subunit-encoding PSENEN
J Frank, DJ Ralser, RC Betz - Journal of Investigative Dermatology, 2018 - Elsevier
We read with interest the recent publication by Li et al.(2017) in the Journal of Investigative
Dermatology. The authors comment on our finding of heterozygous truncating PSENEN …
Dermatology. The authors comment on our finding of heterozygous truncating PSENEN …
[HTML][HTML] Functional characterization of Ceroid Lipofuscinosis Neuronal 3 (CLN3) interactions
A Kaleem - 2017 - ediss.sub.uni-hamburg.de
Juvenile Neuronal Ceroid Lipofuscinosis (JNCL) is an autosomal recessive
neurodegenerative disease also known as Batten disease mainly affecting children. JNCL …
neurodegenerative disease also known as Batten disease mainly affecting children. JNCL …
[引用][C] Syndrome des comédons familiaux isolés multiples et mutation de PEN-2
O Dereure - Annales de Dermatologie et de Vénéréologie, 2016 - hal.umontpellier.fr
Syndrome des comédons familiaux isolés multiples et mutation de PEN-2 - Université de
Montpellier Accéder directement au contenu Documentation FR Se connecter Portail HAL …
Montpellier Accéder directement au contenu Documentation FR Se connecter Portail HAL …