125 citations
,
August 2003 in “Development” In this study, mice engineered to express human EGFR showed tissue-specific growth defects and neurodegeneration rescue, but developed severe heart issues and accelerated bone cell differentiation.
1 citations
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July 2007 in “Journal of Investigative Dermatology” The mutation causes hairless mice due to mislocalized and dysfunctional HR protein.
November 2022 in “Journal of Investigative Dermatology” This study reported that an HS-associated NCSTN mutation in iPSC-derived skin organoids led to altered hair follicle stem cell differentiation and increased expression of proteins linked to HS inflammation.
14 citations
,
April 2013 in “Journal of dermatological science” This study found that Hairless protein down-regulates Msx2 expression, affecting hair follicle formation in Hairpoor mice by altering the MSX2 regulatory pathway.
1 citations
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January 2023 in “In vivo/In Vivo” This study suggests that the activation of box A in mesenchymal cell models may enhance stem cell properties, increasing the expression of stemness markers like OCT4, NANOG, and SOX2.
19 citations
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November 1993 in “Mammalian Genome” This study reports that transgene insertion in homozygous transgenic mice causes irreversible hair loss and impaired immune function, linked to interruption of the hairless locus on Chromosome 14.
This study found that GPC1 is a key regulator of angiogenesis in human dermal microvascular endothelial cells, influenced by factors secreted by keratinocytes, and may be a target for alopecia treatment research.
6 citations
,
March 1996 in “Journal of Investigative Dermatology”
3 citations
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January 2019 in “Jikken doubutsu ihou/Jikken doubutsu/Experimental animals/Jikken Dobutsu” This study reported that knocking out the HR gene in pigs using CRISPR/Cas9 led to hairless eyelids and abnormalities in the thymus and peripheral blood, suggesting pigs as a model for human HR-related hair disorders.
2 citations
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July 2021 in “Biochemical and Biophysical Research Communications” This study found that plantar dermis matrix homogenate can partially restore the regenerative capacity of hair follicles impaired in culture, with CTHRC1 playing a critical role in this process.
25 citations
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December 2018 in “Human Molecular Genetics” This study found that the PSEN1-P242LfsX11 mutation in hidradenitis suppurativa influences cytokine and chemokine expression in macrophages, potentially affecting inflammatory responses.
28 citations
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January 2015 in “Journal of Cell Science” In this study, PINCH-1 gene loss in mouse epidermis led to detachment from the basement membrane, thickened skin, and hair loss, with findings suggesting PINCH-1 plays a role in keratinocyte adhesion through both ILK and EPLIN pathways.
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.
29 citations
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February 2001 in “Proceedings of the National Academy of Sciences” This study found that the HS III element in the K14 gene's regulatory sequence promotes gene expression in inner root sheath keratinocytes, highlighting cooperative interactions in keratinocyte-specific gene regulation.
16 citations
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July 2008 in “BMC Genomics” This study shows that alpha 6 + /MHCI - cells have gene expression profiles similar to hair follicle stem cells, suggesting they may be enriched for stem cells.
7 citations
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February 2011 in “Journal of dermatology” This study identified a specific LIPH gene mutation (736T>A) as common in Japanese patients with autosomal recessive woolly hair/hypotrichosis, potentially indicating its role in the condition's manifestation within this population.
36 citations
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October 2000 in “British Journal of Dermatology” This study identified a distinct gene near the hairless locus on chromosome 8p that is responsible for hereditary Marie Unna type hypotrichosis in a German family.
December 2021 in “Figshare” This study suggests that BBS7 is crucial for maintaining Sonic hedgehog signaling activity, which is important for periodontal ligament homeostasis under occlusal hypofunction conditions.
9 citations
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November 2013 in “Journal of Investigative Dermatology” This study found that transgenic mice with keratinocyte-specific overexpression of CtBP1 exhibited abnormal hair follicle development, suggesting CtBP1 may play a pathogenic role in hair morphogenesis.
6 citations
,
December 2019 in “Frontiers in genetics” In this study, animal model observations suggested that GLI1 expression may reduce cSCC initiation but is not involved in the tumor's aggressiveness.
18 citations
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February 2006 in “Genomics” A new genetic mutation in mice causes permanent hair loss and skin wrinkling.
137 citations
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September 2005 in “Proceedings of the National Academy of Sciences of the United States of America” In this study, researchers found that transgenic expression of the Hairless gene in keratinocytes can restore hair follicle regeneration in Hr-deficient mice by repressing Wise, a modulator of Wnt signaling.
181 citations
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January 2009 in “Nature Genetics” In this study, researchers linked defects in U2HR, an inhibitory region in the HR gene, to Marie Unna hereditary hypotrichosis, suggesting a mechanism for controlling hair growth and addressing hair loss.
13 citations
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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.
December 2021 in “OPAL (Open@LaTrobe) (La Trobe University)” This study found that BBS7 is crucial for maintaining Sonic hedgehog signaling activity and periodontal ligament homeostasis, with changes in gene expression observed in occlusal hypofunctional PDL.
7 citations
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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.
This study found that the Lim-homeodomain transcription factor Lhx2 regulates Sonic Hedgehog signaling during early retinal neurogenesis in mice by controlling the expression of pathway genes in retinal progenitor cells.
29 citations
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April 2000 in “Journal of histochemistry and cytochemistry/The journal of histochemistry and cytochemistry” This study found that ICAM-1 expression in murine skin is developmentally regulated and crucial for skin and hair follicle remodeling beyond its recognized role in immune responses.
December 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” This study revealed that Patched receptors establish a Hedgehog signaling gradient in developing hair follicles, which may influence their formation and potentially offer a diagnostic tool for distinguishing Hedgehog-driven tumors.
April 2017 in “Journal of Investigative Dermatology” In this study, HPH-15, a newly synthesized compound, demonstrated potential in reducing skin fibrosis in a mouse model by targeting underlying pathogenic mechanisms and exhibited a good safety profile, warranting further clinical trials for fibrotic skin disorders like systemic sclerosis.