June 2020 in “Journal of Investigative Dermatology” Hair shaft malformation contributes to Central Centrifugal Cicatricial Alopecia.
18 citations
,
January 2013 in “Journal of Investigative Dermatology” WIF1 helps keep skin stem cells inactive to prevent excessive cell growth.
May 2024 in “JAMA Dermatology” In this study, researchers identified genetic factors associated with frontal fibrosing alopecia, noting a protective effect of a specific CYP1B1 gene variant, which may offer insights into the disease's pathogenesis and future risk mitigation strategies.
31 citations
,
May 2021 in “Journal of endocrinological investigation” This study in Italy found that APS-1, a rare disorder, is associated with various AIRE gene mutations and most individuals have autoantibodies such as IFNωAbs, which are markers of the condition.
4 citations
,
March 2024 in “Journal of Investigative Dermatology” SPRY1 deficiency in skin cells causes stem cells to move to the skin surface, leading to increased pigmentation.
41 citations
,
December 2011 in “The journal of investigative dermatology/Journal of investigative dermatology” This study reported that deleting the MED1 subunit from the MED complex in keratinocytes resulted in disrupted hair differentiation and cycling, leading to hair loss in mice.
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.
34 citations
,
September 2010 in “Clinical and Experimental Dermatology” This study identified a new heterozygous mutation in the connexin 26 gene (c.263C>T; p.Ala88Val) in a premature neonate with KID syndrome, who later died from complications.
April 2018 in “Journal of Investigative Dermatology” This study found that deleting all three Desmoglein 1 genes in mice led to impaired skin barrier function, disorganized epidermis, and postnatal lethality, highlighting Dsg1's essential role in epidermal development and maintenance.
3 citations
,
April 2018 in “Journal of Investigative Dermatology” CCCA may be a fibroproliferative disorder, and anti-fibrotic therapies could help.
33 citations
,
August 2000 in “Experimental Cell Research”
September 2025 in “Frontiers in Medicine” This study found that angiopoietin-1 significantly reduces apoptosis and promotes proliferation in human follicle dermal papilla cells under DHT-induced stress, suggesting its potential as a therapeutic candidate for androgenetic alopecia.
39 citations
,
August 1998 in “FEBS Letters” In this study, researchers identified two novel peptidylarginine deiminases from treated rat keratinocytes, both showing enzyme activity with PAD‐R11 reflecting a characteristic of epidermal enzymes.
April 2018 in “Journal of Investigative Dermatology” The study found that, unlike in actinic keratosis and squamous cell carcinoma, basal cell carcinoma tissues showed higher expression of nidogen1 and Col4 in both basement membranes and surrounding stroma compared to normal skin.
18 citations
,
February 2015 in “Acta Crystallographica Section D: Structural Biology” This study reports that Ca 2+ binding alters the dynamics and surface properties of PKD-like domains in Clostridium histolyticum collagenases, enhancing their stability and potentially aiding in collagen-targeting vehicle development.
9 citations
,
October 2025 in “MedComm” This review discusses the development and clinical progression of PROTAC technology for targeted protein degradation, highlighting its potential to address previously "undruggable" targets but reports no new clinical results.
2 citations
,
June 2012 in “American Journal of Dermatopathology” This case study describes a rare cutaneous follicular hybrid cyst intimately associated with syringocystadenoma papilliferum, proposing a potential relationship with the infrainfundibulum based on keratin expression.
101 citations
,
November 2019 in “The Plant Cell” This study found that the zinc finger protein AtZP1 inhibits root hair initiation and elongation in Arabidopsis by suppressing key transcription factors involved in root hair development.
21 citations
,
August 2007 in “Experimental Dermatology” This study found that mice genetically modified to overexpress the serine protease inhibitor hurpin showed reduced UV-induced apoptosis but increased susceptibility to skin cancer after chemical carcinogenesis.
65 citations
,
November 2013 in “The EMBO Journal” HDAC1 is crucial for skin development and preventing tumors.
March 2014 in “Journal of The American Academy of Dermatology” Cortexolone 17a-propionate may be an effective new treatment for hair loss.
20 citations
,
August 2003 in “Clinical and Experimental Dermatology” In this study, a novel E583V missense mutation in the hairless gene was identified in an Italian family with atrichia with papular lesions, reinforcing the significance of zinc-finger and LXXLL domains in this condition.
June 2025 in “Asia-Pacific Journal of Molecular Biology and Biotechnology” This study used in-silico analyses to investigate papain's potential as a fibrinolytic agent and found that certain fibrin peptides displayed strong interactions with papain, suggesting it may be beneficial for cardiovascular disease treatment.
3 citations
,
April 2022 in “Research Square (Research Square)” In this study, the researchers identified a PBX1-SIRT1-PARP1 axis that plays a crucial role in reducing senescence and apoptosis in hair follicle-derived mesenchymal stem cells.
April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” This case report identified a 6-month-old girl with congenital generalized hypertrichosis and gingival hyperplasia, where a de novo CNV on chromosome 17q24.2-24.3 was associated with reduced expression of ABCA5 and SOX9.
35 citations
,
March 2012 in “Journal of dermatological science” This observational study aims to more accurately detect and localize Propionibacterium acnes in acne lesions by combining multiple microbiological visualization techniques, but it does not present new results on their causality to acne.
15 citations
,
June 2019 in “Biochemical Journal” This study identified a heterozygous de novo mutation in the ODC1 gene causing a new disorder characterized by overgrowth and developmental delay, and suggests that DFMO treatment may help manage elevated ODC activity and putrescine levels.
4 citations
,
August 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” This study developed the iCOUNT tool, which provides insights into stem cell behavior by tracking cell division events and molecular consequences in human and mouse neural stem/progenitor cells.
13 citations
,
July 2019 in “PLoS ONE” This study found that deleting podoplanin in mouse keratinocytes promoted hair follicle growth during regeneration, suggesting it may regulate hair cycling pathways that could aid in treating hair loss conditions.
32 citations
,
January 2020 in “Journal of Molecular Histology” This research identified K31 as a new marker for distinguishing clear secretory cells in human eccrine sweat glands, aiding in differentiating between distinct cell types within these glands.