January 2017 in “Open Journal of Endocrine and Metabolic Diseases” This case report identifies an adolescent with symptoms indicative of Dunnigan-type partial lipodystrophy, emphasizing the need for early diagnosis to manage associated metabolic complications and improve self-esteem.
July 2023 in “Developmental medicine and child neurology/Developmental medicine & child neurology” This study found that patients with Bachmann-Bupp syndrome treated with DFMO showed improvements in hair growth, muscle tone, and development.
4 citations
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May 2023 in “Cells” In this study, baricitinib treatment improved the differentiation of skin-derived precursors into adipocytes for diseases like Hutchinson-Gilford progeria syndrome, suggesting potential benefits when combined with lonafarnib.
1 citations
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April 2022 in “Cell Death Discovery” This study found that SMAD2 overexpression in human hair follicle stem cells promoted differentiation and apoptosis while inhibiting proliferation, and Smurf2 upregulation limited mouse wound healing by suppressing the SMAD2/NANOG/DNMT1 axis.
19 citations
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April 1999 in “British Journal of Dermatology” This study shows that keratin 2e exhibits distinct temporal and regional expression patterns in fetal epidermis, suggesting different regulatory and functional roles from other epidermal keratins.
February 2024 in “Research Square (Research Square)” This study identified SFRP2 and PTGDS as potential biomarkers for female pattern hair loss, finding these genes consistently upregulated in bald hair follicles from all 18 patients, which may contribute to understanding the condition's pathogenesis and developing targeted treatments.
6 citations
,
June 2019 in “International Journal of Dermatology” This article discusses familial frontal fibrosing alopecia in two male families and reports no new clinical findings.
28 citations
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October 2014 in “Development” This study revealed that frizzled 3 can fully rescue polarity defects in frizzled 6-null mice, while frizzled 6 can partially rescue defects in frizzled 3-null mice, highlighting conserved signaling roles in these proteins.
39 citations
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March 2008 in “Journal of biological chemistry/The Journal of biological chemistry” This study found that GLI2 plays a key role in activating follistatin, an activin/BMP antagonist, in response to hedgehog signaling in human epidermal cells, with implications for hair follicle development and basal cell carcinoma.
This study suggests that specific mutations in the MFN2 gene, including the p.Arg707Trp allele, can result in tissue-selective mitochondrial dysfunction leading to excessive upper body fat growth and low leptin levels.
April 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” This study in mice suggests that defects in hair follicles with mesenchymal TSC2 disruption may result from an impaired TGFβ1 response, indicating a potential novel treatment approach for tuberous sclerosis complex.
The researchers reported that PEG-FGF2 conjugates, particularly Compound 6, significantly enhanced stability, proliferation, migration, and wound healing activity compared to native FGF2, despite some reduction in bioactivity near crucial binding domains.
September 2016 in “Journal of dermatological science” This study identified TSC2 as an important regulator of hair follicle morphogenesis and patterning, with Tsc2cKO mice showing altered hair patterns and frequencies compared to controls.
17 citations
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February 2016 in “Experimental Dermatology” This study found that SFRP2 enhances Wnt3a-mediated β-catenin signaling in human dermal papilla cells, with higher SFRP2 expression in beard cells correlating with increased trichogenicity.
119 citations
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November 2014 in “Trends in Cell Biology” This review discusses the mechanisms and pathways of FGFR signalling and its roles in development, disorders, and therapeutic targeting, but reports no new clinical results.
This study found that VDAC2 promotes apoptosis in secondary hair follicle stem cells of Albas cashmere goats by activating the P53 signaling pathway, with knockdown of VDAC2 reducing apoptosis and a P53 inhibitor partially rescuing VDAC2-induced apoptosis.
January 2023 in “Open Life Sciences” This study found that VEGFR-2 activation may play a role in hair follicle differentiation, proliferation, and apoptosis by co-expressing with several key proteins in normal human scalp skin.
93 citations
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April 2003 in “Proceedings of the National Academy of Sciences of the United States of America” This study identified an unexpected critical role for the FATP4 protein in skin and hair development in mice, linking it to a potential candidate gene for restrictive dermopathy in humans.
28 citations
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June 1995 in “The Journal of Dermatology” This study reports that flaky skin mice exhibit skin and nail features that closely resemble human psoriasis vulgaris, suggesting they may serve as a natural model for this condition.
6 citations
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January 2020 in “Czech Journal of Animal Science” This study found that specific SNPs in the sheep FAT1 gene are significantly associated with wool quality traits, suggesting potential markers for improving wool crimp, fibre length, and fibre diameter in breeding.
17 citations
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August 2012 in “Journal of Medical Genetics” This article reviews the genetic mutations associated with hypohidrotic ectodermal dysplasia and reports no new clinical results; the authors highlight the roles of EDA gene isoforms and related receptors.
3 citations
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January 2017 in “Acta Dermato Venereologica” This study found that a specific T-cell receptor motif associated with lipid-antigen stimulation may play a role in the pathogenesis of folliculotropic mycosis fungoides.
32 citations
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July 2017 in “Oncotarget” This study found that intermittent treatment with FTI lonafarnib and sulforaphane may be a promising therapeutic approach for children with Hutchinson-Gilford progeria syndrome, as it improved the cellular phenotype.
This study reports that patients with specific MFN2 mutations, including p.Arg707Trp, exhibit significant upper body fat overgrowth with suppressed leptin production, suggesting tissue-selective mitochondrial dysfunction and potential therapeutic targets.
83 citations
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February 1991 in “Development” This study found that Fos protein expression is closely linked to epithelial cell differentiation, particularly during cornification and cell death, with overexpression observed in keratinization-blocked mutant epidermis.
13 citations
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March 2020 in “Genes” This study found that FGF5-/- rabbits exhibited a significant long hair phenotype by prolonging the anagen phase, suggesting FGF5 acts as a negative regulator of hair growth.
11 citations
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November 2019 in “The FASEB Journal” In this study, a missense mutation in the MAP2 gene was found to be associated with reduced hair follicle density, leading to the hairless phenotype in pigs.
28 citations
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July 1993 in “The journal of investigative dermatology/Journal of investigative dermatology”
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” This study revealed distinct cellular and transcriptomic differences among various subtypes of cutaneous T-cell lymphoma, particularly highlighting characteristics unique to folliculotropic mycosis fungoides.