53 citations
,
October 2003 in “Genetics” This study identified a mutation hotspot in the caracul (Ca) locus of mice, implicating the mK6irs1/Krt2-6g gene in hair formation and potentially human hair and skin diseases.
1 citations
,
January 2012 In this study, the researchers cloned and analyzed the CRABP I gene in Inner Mongolian cashmere goats, finding its highest mRNA expression at 90 days in embryo skin compared to later stages.
7 citations
,
January 2018 in “Neurodegenerative Diseases” This study identified a new clinical variant of adult adrenomyeloneuropathy characterized by hypoplasia and agenesis of the corpus callosum, associated with a novel ABCD1 gene mutation.
38 citations
,
April 2016 in “The Journal of Pathology” This study found that mice lacking alkaline ceramidase 1 with elevated skin ceramide levels showed disrupted skin homeostasis, including altered hair follicle structures, increased water loss, and a hypermetabolism phenotype.
June 2024 in “Journal of Ayub Medical College Abbottabad” This study concluded that adding 5% topical Procapil to PRP therapy provided better outcomes for androgenetic alopecia than PRP alone, as assessed by dermatologist evaluations and patient satisfaction.
April 2018 in “Journal of Investigative Dermatology” This study demonstrated that in genetic mouse models, the calcium sensor Stim1, not Stim2, is essential for sweat secretion in sweat glands.
39 citations
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December 1998 in “Journal of Cell Science” This study found that the LEF-1 binding site acts as an enhancer element for the wool keratin intermediate filament gene promoter in hair follicle cortex, with specificity regulated by additional factors.
1 citations
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June 2022 in “Chinese medical journal/Chinese Medical Journal” This study identified two novel mutations in the CDH3 gene causing HJMD in a Chinese patient, expanding the genetic and phenotypic understanding of the disorder.
15 citations
,
March 2014 in “Biochimica and biophysica acta. Molecular and cell biology of lipids” This review discusses the role of acyl-CoA binding protein (ACBP) in the epidermal barrier, noting that its disruption in mice is linked to skin and fur abnormalities; it reports no new clinical results.
53 citations
,
June 2005 in “The journal of investigative dermatology/Journal of investigative dermatology” This article reviews extensive genetic polymorphisms in the keratin-associated proteins of human hair, indicating complexity but reporting no new clinical results and calls for further research on their potential impact on hair structure.
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.
9 citations
,
April 2018 in “Canadian Journal of Animal Science” This study found that LEF-1 expression influences dermal papilla cells' proliferation through Wnt signaling, impacting the potential for cashmere yield improvement.
April 2023 in “Journal of Investigative Dermatology” This study suggests that caveolin-1 may be a potential target for treating psoriasis, as its downregulation was linked to psoriasis markers that improved with soluble caveolin scaffolding domain peptide treatment.
102 citations
,
August 2008 in “Genes & Development” This study found that laminin-511 is crucial for hair morphogenesis in mice, as it influences primary cilia formation and dermal papilla maintenance through noggin and sonic hedgehog signaling.
January 2013 in “International Journal of Trichology” This case report highlights the discovery of a novel TRPS1 gene mutation in a 17-year-old with TRPS type I, underscoring the diagnostic importance of hair symptoms in congenital hair diseases.
28 citations
,
July 2005 in “Journal of Investigative Dermatology” Sca-1+ cells in newborn mouse skin may become fat cells.
June 1999 in “Connective tissue”
1 citations
,
October 2018 in “Bioscience reports” This study suggests that Annexin A2 isoform 2 might play a role in regulating the proliferation and growth of dermal papilla cells, potentially impacting the hair follicle growth cycle.
11 citations
,
August 2010 in “Developmental neurobiology” This study suggests that Ptprq in the hair bundles may exist as multiple isoforms that are differentially expressed throughout development and affect the organization of stereocilia in the chick inner ear.
19 citations
,
August 2012 in “Cell death and differentiation” This study found that disrupting the inturned gene in developing mouse epidermis halted hair follicle formation due to impaired keratinocyte differentiation, highlighting primary cilia's role in tissue-specific planar cell polarity signaling.
8 citations
,
April 1997 in “Experimental Dermatology” This study found that hHbl gene expression is localized in the cortical cells of the human hair shaft and is notably high in pilomatricoma cells transitioning to hair shaft keratinocytes.
17 citations
,
September 2014 in “PLoS ONE” This study found that SK2 channels in sensory terminals of rat muscle spindles and hair follicles may play a crucial role in modulating mechanosensory transduction by influencing receptor potentials through Ca2+-activated K+ currents.
1 citations
,
August 2023 in “Nature communications” In this study, researchers found that Hdac1 and Hdac2 are crucial for maintaining the quiescence and survival of dermal papilla cells in the hair follicle, regulating the hair cycle by controlling cell-cycle genes and Wnt signaling.
4 citations
,
May 2023 in “Pigment Cell & Melanoma Research” In this study, researchers found that deleting the Bmi1 gene in murine melanocytes caused premature hair greying and loss of melanocyte lineage cells, highlighting BMI1's role in protecting melanocyte stem cells from stress and oxidative damage.
2 citations
,
November 2006 in “Pump Industry Analyst” This study found that pilomatricomas exhibit co-expression of hair keratin hHa5 and HOXC13 in lower transitional cells, but lack LEF1 and β-catenin co-expression necessary for canonical Wnt signaling pathway-controlled cortical differentiation.
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.
286 citations
,
April 2009 in “The journal of neuroscience/The Journal of neuroscience” This study found that TRPA1-deficient mice exhibited normal cold sensitivity but had decreased mechanical response in nociceptors, suggesting TRPA1's role in mechanotransduction.
2 citations
,
December 2020 in “Endocrinology, diabetes & metabolism case reports” This case study highlights the complexity of managing autoimmune polyglandular syndrome type 1, emphasizing the need for thorough clinical history, high suspicion for early diagnosis, and continuous long-term follow-up.
July 2022 in “Journal of Investigative Dermatology” This study found that decreased TRPS1 expression in balding dermal papilla cells may impair their signaling ability, contributing to hair follicle miniaturization in androgenic alopecia.
5 citations
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December 1996 in “Biochemical and Biophysical Research Communications” In this study, keratin genes mHa1 and mHb4 were unable to form an extensive keratin network in one cell line, altering endogenous keratin distribution, but showed better integration in another cell line.