November 2025 in “Journal of Investigative Dermatology” KLHL24-mutant stem cells help understand skin and heart disease.
22 citations
,
May 2011 in “Molecular Biology of the Cell” In this study, gene inactivation in mouse hair follicle stem cells lacking ILK impaired wound healing by reducing their progeny’s contribution to the regenerating epidermis, but did not affect hair follicle regeneration.
34 citations
,
January 2004 in “Genomics” In this study, researchers identified a cluster of hair-specific keratin-associated protein genes within the 21q22.3 region, revealing a novel transcription mechanism involving TSPEAR/C21orf29 that may bypass typical transcriptional termination sites.
In this study, conditional inactivation of the Mad2l1 SAC gene in mice led to aggressive and lethal acute lymphoblastic leukemia and hepatocellular carcinoma, demonstrating a link between chromosomal instability and cancer development.
9 citations
,
July 2022 in “Journal of Biological Chemistry” This study in mice found that WWP2 facilitates odontoblast differentiation and dentin formation by targeting PTEN for degradation, thereby enhancing KLF5 activity, which may suggest its crucial role in dental development.
53 citations
,
August 2005 in “The Journal of Cell Biology” This study found that the absence of Sgk3 in mice leads to impaired hair follicle maturation, characterized by reduced cell proliferation, increased apoptosis, and premature regression.
10 citations
,
June 2021 in “Journal of Investigative Dermatology” GNPTAB gene is crucial for normal hair color in humans and mice.
24 citations
,
January 2023 in “Cancer Research” This study suggests that activating AMPK to phosphorylate ZDHHC13 may enhance MC1R function and reduce melanoma risk in individuals with red hair.
January 1999 in “American Journal of Medical Genetics Part A” This case report describes a rare occurrence of ectodermal dysplasia features in a 14-year-old with MBTPS1 gene variants, expanding the known spectrum of related disorders.
1 citations
,
April 2016 in “Journal of Investigative Dermatology” This study found that NLRP1 in human melanoma cells promotes tumor growth by enhancing inflammasome activation and suppressing caspase-3 activity.
14 citations
,
April 2016 in “PloS one” This study found that the promoter region of the sheep KRTAP11-1 gene drives specific transcriptional activity in wool follicles, suggesting it may regulate hair keratinocyte specificity.
64 citations
,
January 2010 in “The FASEB Journal” This study found that prolactin is a key regulator of keratin expression in human hair follicles, enhancing specific keratin types and influencing epithelial stem cell-associated keratins.
133 citations
,
June 1993 in “Molecular and Cellular Biology” This study found that a truncated region of the K5 promoter directs expression in stratified epithelia, particularly in epidermis, hair follicles, and tongue, potentially involving specific keratinocyte nuclear proteins in regulation.
November 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that conditional deletion of CD271 in mouse epidermis led to significant disorganization and increased thickness, suggesting CD271's crucial role in regulating skin differentiation and structure.
4 citations
,
September 2020 in “Cell division” In this study, XMU-MP-1 unexpectedly reduced cell proliferation and altered cell cycle progression in a model human hair follicle, possibly due to off-target kinase inhibition.
32 citations
,
April 2014 in “The journal of investigative dermatology/Journal of investigative dermatology” This study demonstrates that keratin K2 is crucial for proper keratinocyte structure and function in specific mouse skin areas, and its deficiency leads to cellular aggregates and skin abnormalities.
73 citations
,
June 2001 in “Endocrinology” In this study, researchers found that disrupting the PRL gene in mice led to earlier hair molting, especially in females, suggesting that PRL inhibits murine hair cycle events.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” In this study, researchers found that the loss of SETDB1 in epidermal keratinocytes led to altered chromatin states, increased ERV expression, and activation of immune responses, while inhibiting these effects with certain antiviral drugs reduced skin inflammation and hair loss in a mouse model.
151 citations
,
August 2011 in “The EMBO Journal” The enzyme PA-PLA1α is important for proper hair follicle development.
5 citations
,
September 2018 in “Journal of Investigative Dermatology” Keratinocyte cytokines and genetic variations influence the development of moles and skin pigmentation.
51 citations
,
January 2007 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified a novel keratin-associated protein, KAP24.1, which is specifically expressed in the human scalp and located in the hair cuticle.
This study found that deleting the Mad2l1 gene in mice leads to rapid onset of acute lymphoblastic leukemia and liver cancer due to induced chromosomal instability.
3 citations
,
September 2023 in “Genes” This study analyzed the molecular evolution and functional divergence of the Dkk gene family, finding accelerated evolution in Aves and Reptilia and identifying functional differences that may impact hair follicle development via Wnt signaling inhibition.
135 citations
,
October 1999 in “Journal of Cell Science” This study found that overexpression of PKCα in mouse epidermis increases expression of specific proinflammatory mediators and induces inflammation but does not significantly affect epidermal differentiation, proliferation, or tumor promotion with TPA.
November 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that STRIP1 and the STRIPAK complex play a key role in regulating F-actin and cell-cell junctions, which are essential for maintaining the epidermal barrier in mouse skin.
January 2026 in “Current Issues in Molecular Biology” This study found that transfecting alpaca melanocytes with miR-5110 altered gene expression related to pigmentation, specifically identifying pathways like MAPK and Wnt as involved in melanogenesis regulation, providing insights into miR-5110's role in pigmentation processes.
November 2024 in “NeoReviews” Pallister-Killian Syndrome is a complex genetic disorder requiring coordinated care and genetic counseling.
25 citations
,
May 1994 in “Journal of Investigative Dermatology” This study identified a novel gene, hacl-1, that is specifically expressed in the hair follicles of ICR mouse skin and is associated with their active state.
82 citations
,
December 2011 in “Journal of Biological Chemistry” This study discovered that a network controlled by the gene p63 is crucial for keratinocyte differentiation and is linked to MYC through cell adhesion-related pathways.