51 citations
,
February 2009 in “Journal of dermatological science” In this study, β-catenin overexpression in human hair outer root sheath cells increased the expression of Pitx2, which activated the follicular differentiation pathway, suggesting Pitx2's potential role as a modulator in hair growth control.
August 2025 in “International Journal of Contemporary Pediatrics” This case report presents a rare subtype of hypomyelinating leukodystrophy linked to a PYCR2 gene mutation, emphasizing exome sequencing's value in diagnosing undiagnosed childhood HLDs with atypical symptoms.
January 2010 in “Acta Laboratorium Animalis Scientia Sinica” This research reports that the ultra-high sulfur keratin promoter acts as a tissue-specific promoter in mouse hair follicles, as shown by induced expression of GFP and β-gal in that region post-transfection.
7 citations
,
December 2015 in “International Journal of Dermatology” In this study, researchers identified a novel and two previously reported pathogenic mutations in the HR gene associated with atrichia with papular lesions in five Pakistani families.
70 citations
,
December 2008 in “Cancer Research” This study found that activating CXCR2 on ras-transformed keratinocytes promotes migration and tumor development in a mouse skin model.
22 citations
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July 2015 in “PloS one” This study found that Foxp1, a transcriptional factor, plays a key role in regulating hair follicle stem cell proliferation by modulating oxidative stress and the cell cycle during hair growth phases.
55 citations
,
December 2021 in “BMC Veterinary Research” This study identified several candidate genes related to wool production traits and adaptation to hot, arid environments in Iranian sheep, highlighting potential targets for future inbreeding programs.
266 citations
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January 2016 in “Development” In this study, researchers found that YAP and TAZ, when localized in the nucleus of basal layer cells, are crucial for skin regeneration and hair growth, with their loss leading to slower cell proliferation, hair loss, and impaired wound healing in mice.
11 citations
,
February 2018 in “Oncotarget” This study observed that reduced activation of SMAD2/3 proteins in cutaneous squamous cell carcinoma tissue compared to adjacent tissue may indicate a tumor suppressor role in disease progression.
August 2009 in “Mechanisms of Development” 26 citations
,
April 1996 in “Journal of Investigative Dermatology”
87 citations
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July 2018 in “Biochimica et Biophysica Acta (BBA) - Molecular Cell Research” This review discusses the essential roles and complex regulation of PP2A in various physiological processes and reports no clinical results; the authors highlight the need for further mouse model research to explore PP2A's therapeutic potential.
6 citations
,
March 2007 in “BioTechniques” This study observed that PCR-based genotyping for cre-loxP mice can lead to errors due to cre-mediated recombination in non-target tissues like tails, affecting the detection of lox alleles.
5 citations
,
June 2023 in “BMC genomics” This study found that a specific genetic mutation in the Fgf5 gene may contribute to the long-hair trait in Angora rabbits by reducing the binding capacity of the FGF5 protein.
April 2017 in “Journal of Investigative Dermatology” In this study, deep phenotyping of 68 patients with XPD gene defects successfully separated individuals by clinical diagnosis and survival status, potentially improving diagnosis and prognosis for xeroderma pigmentosum and trichothiodystrophy.
December 2021 in “Figshare” This study found that BBS7 is downregulated in occlusal hypofunctional periodontal ligament, suggesting it plays a crucial role in maintaining Shh signaling for PDL homeostasis.
January 2022 in “Research Square (Research Square)” This study found that elevated TSPEAR expression in colorectal cancer was associated with poor overall prognosis and correlated with tumor infiltrating immune cells, suggesting its potential as a predictive biomarker.
990 citations
,
October 1999 in “Development” This study found that LEF1/TCF3 is necessary but not sufficient for TOPGAL activation in hair follicle development, indicating complex regulation in the skin.
This study found that inhibiting the Mitochondrial Pyruvate Carrier in human scalp hair follicles caused metabolic stress that halted cell proliferation and disrupted key signaling pathways, with these effects partially reversed by an integrated stress response inhibitor.
30 citations
,
October 2010 in “Biochemical and biophysical research communications” This study found that the Gsdma3 gene is necessary for normal hair follicle differentiation in mice, with its mutation leading to progressive hair loss and defects in hair structure.
January 2021 in “Research Square (Research Square)” This study found that STAT3 directly inhibits the sheep FST gene and cell proliferation, shedding light on the molecular mechanisms of hair follicle development and wool characteristics.
22 citations
,
November 2008 in “The journal of investigative dermatology/Journal of investigative dermatology” This study observed that cathepsin L and transglutaminase 3 colocalize in the human hair bulb and nail matrix, suggesting their involvement in terminal differentiation within these epidermal appendages.
27 citations
,
April 2004 in “Biochemical and Biophysical Research Communications” In this study, two novel clusters of keratin-associated protein genes on human chromosome 11 were analyzed, suggesting their products are crucial for hair formation due to preferential expression in hair roots.
73 citations
,
December 2015 in “Nature Genetics” This study found that the Dun camouflage color in horses is due to TBX3 expression, which causes uneven pigment deposition, whereas non-dun coat colors result from regulatory mutations affecting TBX3 expression.
51 citations
,
January 2004 in “European Journal of Cell Biology” Human cathepsin V can replace mouse cathepsin L to maintain normal skin and hair in mice.
3 citations
,
February 2018 in “Experimental and Molecular Medicine/Experimental and molecular medicine” This study suggests that hair loss disorders like Marie Unna hereditary hypotrichosis may result from mutations that disrupt post-transcriptional regulation of HR protein expression by PCPB2 interacting with Hr mRNA.
September 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identifies two previously unreported pathogenic RIPK4 gene variants, suggesting a functional link with cell adhesion molecules in ectodermal dysplasias.
November 2025 in “Journal of Investigative Dermatology” Combining MMP-9 and JAK inhibitors can effectively prevent skin depigmentation in vitiligo.
32 citations
,
August 2016 in “Science Signaling” This study developed PiSCES biosignatures that distinguished alopecia areata patients from controls, revealing enhanced basal TCR signaling and a potential disease-specific signaling network signature.
19 citations
,
March 2018 in “Journal of Investigative Dermatology” This study indicates that transient Msx2 expression is critical for wound-induced hair follicle neogenesis, with distinct phases in the healing process essential for epidermal competence and hair regeneration.