8 citations
,
February 2025 in “Cell Systems” This study developed a genetic toolbox to engineer Cutibacterium acnes for dermal applications, successfully creating a strain that secretes antioxidants to reduce oxidative stress in a UV stress model.
2 citations
,
October 2000 in “Journal of Investigative Dermatology” AUC and APL are distinct conditions needing careful clinical assessment.
June 2020 in “Nihon Ika Daigaku Igakkai Zasshi” This study found that aPKCλ, but not aPKCζ, plays a critical role in maintaining hair follicle stem cell populations and promoting wound healing in the epidermis.
80 citations
,
June 1997 in “The American Journal of Human Genetics” 14 citations
,
May 2016 in “International Journal of Molecular Sciences” This study showed that knocking out the Ppp2ca gene in the epidermis of mice led to significant hair loss and disrupted hair follicle morphogenesis and regeneration.
2 citations
,
May 2020 in “Journal of the American Academy of Dermatology” Hair shaft changes may be linked to CCCA, but their role is unclear.
7 citations
,
March 2022 in “The FASEB journal” This study observed that mice with a whole-body deficiency of Cystathionine-β-synthase developed severe hyperhomocysteinemia and related mild symptoms without increased mortality, indicating HHCy may not directly cause end organ damage.
69 citations
,
January 2013 in “Frontiers in Immunology” This review summarizes existing knowledge on the role of FOXN1 as a key regulator of thymic epithelial cell lineage and function, reporting no new experimental results.
40 citations
,
December 2012 in “PLoS ONE” This study found that selective deletion of Ctip2 in epidermal keratinocytes in adult mice leads to atopic dermatitis-like inflammation and suggests Ctip2 plays a crucial role in skin barrier maintenance and inflammatory regulation.
2 citations
,
December 2018 in “Journal of cosmetic dermatology” This study observed a significant increase in cellular retinol-binding protein-1 expression in lesional skin of patients with alopecia areata compared to healthy controls, suggesting its potential role in the disease's pathogenesis.
1 citations
,
March 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that AtCEPs in Arabidopsis thaliana play a role in controlling root hair growth by processing EXT proteins, with NAC1 acting to regulate their expression and influence elongation.
January 2007 in “Journal of Southwest University” This study identified that the ND1 gene sequence of the Asian black bear's Sichuan subspecies shares high similarity with those of other bear species, raccoons, and Ailurus fulgens.
January 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that the mutant hairless rhino bald protein in mice interacts with the vitamin D receptor but cannot repress its transactivation and shows abnormal cellular localization.
April 2019 in “Journal of Investigative Dermatology” This study identifies a mechanism where dsRNA activates TLR3 to induce RA production, promoting hair follicle regeneration in mice and suggesting a potential role in human tissue regeneration.
7 citations
,
March 2020 in “PloS one” This study demonstrates that α-parvin is crucial for epidermal morphogenesis and hair follicle development by mediating integrin-dependent adhesion and actin organization in keratinocytes.
April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified intramembrane proteolysis as a key feature of Astrotactin2 maturation, providing insights into its role in planar cell polarity hair patterning.
April 2010 in “Cancer Research” This study suggests that Mcl-1 has a non-apoptotic role in promoting keratinocyte proliferation and Wnt/β-catenin signaling, potentially indicating a novel oncogenic activity.
33 citations
,
February 2012 in “British Journal of Dermatology” This study found significant changes in gene expression related to skin structure and signaling pathways in AEC syndrome skin, offering new insights into the syndrome's molecular underpinnings.
1 citations
,
January 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that knocking out vinculin in mouse skin disrupts bulge stem cell quiescence by impairing force generation and mechanical stability of adherens junctions.
36 citations
,
January 2007 in “Archives of Histology and Cytology” This study suggests that the absence of alpha5(IV)/alpha6(IV) chains in certain subepidermal basement membrane spots may relate to interactions with melanocytes in human skin.
20 citations
,
February 2019 in “Genes” This study identifies a likely pathogenic homozygous missense variant in the AEBP1 gene in a patient with symptoms of classical Ehlers-Danlos syndrome, suggesting new perspectives for EDS classification and research.
January 2018 in “Stem cell biology and regenerative medicine” This paper reviews the role of ATP-dependent chromatin remodeling complexes in epidermal homeostasis, hair regeneration, and skin repair, noting contributions to 3D-genomic organization and suppression of UV-induced hyper-proliferation, without presenting new results.
28 citations
,
November 2018 in “Journal of Cellular and Molecular Medicine” This review discusses the role of the CXXC5 protein as a transcription factor and signaling coordinator, noting its involvement in embryonic development, tissue homeostasis, and diseases such as tumorigenesis, but reports no new experimental findings.
11 citations
,
March 2014 in “Journal of Investigative Dermatology” In this study, basal cell carcinoma developed in Ptch-deficient mice only after chemical treatment, not skin wounding, suggesting a second unknown event is necessary for tumor formation.
34 citations
,
July 2020 in “American journal of human genetics” This study identified mutations in the SREBF1 gene that impair SREBP1 function, potentially contributing to IFAP syndrome by affecting skin, hair, and eye development.
3 citations
,
January 2013 in “Dermatology” This study identified novel compound heterozygous mutations in the hairless gene among a non-consanguineous Chinese family with congenital atrichia, illustrating phenotypic variations due to founder or modifier genes.
June 2023 in “British journal of dermatology/British journal of dermatology, Supplement” This case report describes a 15-year-old girl with features of Becker naevus syndrome, highlighting the importance of DNA analysis from skin to confirm the diagnosis after 9 years of symptoms.
11 citations
,
February 2011 in “The Journal of Dermatology” This study observed four consanguineous families with congenital atrichia with papular lesions and identified three novel mutations in the hairless gene, which may contribute to the disorder.
62 citations
,
December 2007 in “Journal of Cellular and Molecular Medicine” This article reviews the role of Kremen proteins as regulators in the Wnt/β-catenin signaling pathway, highlighting their significance in development and cancer, but reports no new clinical results.
September 2021 in “CRC Press eBooks” This article discusses features, genetics, and diagnostic challenges of central centrifugal cicatricial alopecia in African American women but reports no new clinical results.