January 2016 in “Experimental Dermatology” This article in Experimental Dermatology does not include an abstract or any new research findings.
November 2022 in “Journal of the Endocrine Society” This case report highlights a novel NR5A1 gene variant associated with a severe 46,XY disorder of sex development, stressing the importance of genetic screening in similar cases.
November 2024 in “Journal of Investigative Dermatology” Blocking the JAK/STAT pathway may help reduce skin sensitivity in Xeroderma pigmentosum.
April 2023 in “Journal of Investigative Dermatology” This study found that in a mouse model of Gorlin syndrome, constitutive activation of signaling in dermal cells led to abnormal follicular growth, indicating non-epidermal factors may contribute to the disease.
October 2017 in “The Indian Journal of Animal Sciences” This study found that prolactin gene polymorphism in Changthangi goats showed no significant association with Cashmere quality traits, indicating the need for further research with larger sample sizes.
September 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that zebrafish and stickleback fish use similar genetic programs for tooth regeneration, despite differences in their dental structures.
This study demonstrates that the trichohyalin gene is located at chromosomal region 1q21, where several other genes related to epidermal differentiation also map.
1 citations
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April 2010 in “Digital WPI” This study found that CLK1 is necessary for epidermal differentiation but does not affect sebocyte differentiation in a telogen skin stem cell line.
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.
20 citations
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February 2010 in “Journal of Investigative Dermatology” Slug (Snai2) helps regulate hair growth timing in mice.
26 citations
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December 1990 in “Journal of Biological Chemistry” In this study, elevated mRNA levels for serine-rich ultra high sulfur proteins were observed during active hair growth phases in mice, particularly in the forming hair structures and upper skin layers.
March 2023 in “Journal of Cosmetic Dermatology” This study in Japanese women identified SNP rs2419385 as significantly associated with hair thinning, suggesting potential involvement of nearby genes in its development.
April 2018 in “Journal of Investigative Dermatology” This study found that elevated STAT5 levels are linked to improved hair-inducing capabilities in human dermal papilla cells, and reducing STAT5 impairs hair follicle induction.
19 citations
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May 2006 in “Clinical and Experimental Dermatology” This study identified a novel insertion mutation in the hairless gene that may contribute to the development of congenital atrichia with papular lesions in a Pakistani family.
September 2025 in “Science Advances” This study reports that PADI4, an enzyme involved in posttranslational protein modifications, regulates progenitor cell transitions in hair follicle development by repressing transcription and interacting with translational and ribosomal processes.
31 citations
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October 1992 in “PubMed” This study demonstrated immunological cross-reactivity between mycobacterial heat-shock protein 65 and human epidermal cytokeratin 1/2, suggesting that this cross-reactive epitope might play a role in skin diseases.
2 citations
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May 2022 in “International journal of molecular sciences” This study found that the methylation level at CpG III site 4 of the KRT17 gene promoter significantly influences wool production in Angora rabbits, suggesting its potential as an epigenetic marker for breeding high wool yield.
March 2026 in “Adipocyte” This study identified transcription elongation as a crucial regulatory factor in adipocyte cell fate, showing that the elongation factors Spt4 and Spt6 are essential for proper adipogenic differentiation by aiding RNA polymerase II progression through key adipogenic genes.
1 citations
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October 2023 in “BMC Genomics” This study identified miRNAs within the Dlk1-Gtl2 region on chromosome 18 as potential epigenetic regulators of lamb fur traits, with possible implications for the PI3K-AKT signaling pathway.
January 2011 in “Journal of Human Genetics” This study found a severe MBTPS2 gene mutation in a Japanese IFAP syndrome patient, suggesting other factors may influence the syndrome's clinical features compared to previously studied patients.
17 citations
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June 2019 in “The journal of immunology/The Journal of immunology” This study identified a regulatory element necessary for Foxn1 expression specifically in mouse thymic epithelial cells, crucial for thymus development but not affecting hair follicles.
3 citations
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May 2024 in “BMC Medical Genomics” This study is the first to identify a de novo heterozygous frameshift insertion variant in the ARID1B gene as a cause of Coffin-Siris syndrome with an association to excessive early-onset high myopia.
38 citations
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June 2005 in “Acta Biochimica Polonica” This study found that spleens of black C57BL/6 mice contain eumelanin, with properties different from skin and hair melanin, and may originate from skin melanin transported by immune cells.
1 citations
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January 2015 This study found that bursts of ERK activation in the skin, termed SPREADs, are linked to increased cell division and help synchronize cell cycle progression in living mice.
This study identified a new gene in sheep, KRTAP36-2, discovering variants associated with wool yield. Variations in this gene were linked to the efficiency of fleece conversion from greasy to clean, which may enhance wool production.
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.
60 citations
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March 2006 in “Journal of Medical Genetics” This study identified a homozygous missense mutation in the KRTHB5 gene linked to pure hair–nail ectodermal dysplasias in a large consanguineous Pakistani family, providing new insights into the condition's molecular pathogenesis.
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.
14 citations
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October 2017 in “Gene Expression Patterns” This study generated a Dct-H2BGFP mouse model that allows for effective identification and isolation of melanocytic cells in vivo, facilitating research into their molecular and biological properties.
33 citations
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August 2000 in “Experimental Cell Research”