June 2026 in “Springer Link (Chiba Institute of Technology)” This study found that fibroblast growth factors exhibit significant expression differences in the skin of rodents and primates, which may be linked to their evolutionary and environmental adaptations.
34 citations
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July 2020 in “American journal of human genetics” This study identified mutations in the SREBF1 gene that impair SREBP1 function, potentially contributing to IFAP syndrome by affecting skin, hair, and eye development.
January 2001 in “Chinese Journal of Reparative and Reconstructive Surgery” This study found that endogenous EGF may play a role in epidermal development and wound healing, while the absence of bFGF in embryonic rats' skin could contribute to non-scar healing.
20 citations
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March 2014 in “Molecular Endocrinology” This study suggests that NFIB and STAT5 work together to control cell-specific genetic programs in mammalian tissues, particularly in mammary and hair follicle stem cells.
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.
June 2021 in “bioRxiv (Cold Spring Harbor Laboratory)” This study discovered that the gene Tfap2b identifies a melanocyte stem cell population in zebrafish, essential for regenerating melanocytes with multi-fate potential into adult pigment cells.
April 2026 in “Human Genome Variation” In this study, researchers identified a recurrent MBTPS2 splice-site variant as a mutational hotspot in IFAP syndrome across diverse families, with phenotype severity suggesting the influence of additional modifiers.
January 2026 in “BIO Web of Conferences” This study suggests that fibroblast growth factors exhibit significant expression differences in rodent and primate skin, potentially related to their evolutionary paths and environmental adaptations.
28 citations
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July 2007 in “Development” In this study, inactivating the TAF4 subunit of transcription factor TFIID in mouse epidermis disrupted gene expression linked to skin and hair function, and increased tumor risk.
24 citations
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May 2019 in “PLOS genetics” This study reports that compound heterozygous loss-of-function mutations in the HEPHL1 gene in a child were associated with abnormal hair and cognitive issues, linking altered ferroxidase activity to hair disorders.
September 2025 in “Digital Commons - RU (Rockefeller University)” This study found that when NFIB was removed in adult mouse hair follicle stem cells, it did not affect their maintenance but unexpectedly led to increased proliferation and differentiation of nearby melanocyte stem cells.
3 citations
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January 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that epidermolysis bullosa simplex keratinocytes had impaired mitochondrial activity and more dispersed mitochondrial distribution compared to normal human keratinocytes.
18 citations
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August 2015 in “Biochemical and Biophysical Research Communications” This study found that the XEDAR receptor can activate the non-canonical NF-kB pathway involving p100 processing, which is regulated by interactions with TRAF proteins and specific kinases.
April 2023 in “Journal of Investigative Dermatology” In this study, researchers found that the protein eIF4E is crucial for keratinocyte proliferation in psoriasis, suggesting it as a potential treatment target for the condition.
88 citations
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December 2003 in “Journal of Biological Chemistry” This study identified epiprofin as a highly tissue-specific nuclear protein that promotes cell proliferation, mainly expressed in the developing teeth, hair follicles, and limbs of embryonic mice.
14 citations
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May 2017 in “Journal of Investigative Dermatology” This study reports a novel homozygous mutation in the DST gene causing a unique form of epidermolysis bullosa simplex with prurigo papules in a 39-year-old Syrian man.
November 2022 in “Journal of Investigative Dermatology” This study provides evidence that ILC1-like cells can induce alopecia areata in previously healthy human hair follicles, challenging the view that it is solely an autoantigen-dependent autoimmune disease.
April 2017 in “Journal of Investigative Dermatology” This study identified that dominant mutations in the KLHL24 gene cause epidermolysis bullosa through dysregulated autoubiquitination, leading to excessive degradation of keratin 14.
This research investigated the role of EphA1 in embryonic and adult tissues, generating mouse models suggesting potential links to skin and colon cancer, sepsis, and post-traumatic injury.
6 citations
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January 2014 in “Genetics and Molecular Research” This study constructed a hair follicle-specific expression vector for IGFBP-5 in Inner Mongolia Cashmere goat cells, allowing for future functional genetic analyses and potential use in nuclear transfer.
CaBP1 and 2 are important for maintaining the activity of calcium channels necessary for hearing in inner ear cells.
January 2026 in “British Journal of Dermatology” This study suggests that ELF5 plays a crucial role as a regulator and maintainer of stem/progenitor cell functions, impacting normal skin development and homeostasis.
3 citations
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January 2021 in “Molecular genetics & genomic medicine” In this study, novel mutations in the BTD gene were identified in a patient with profound biotinidase deficiency, highlighting the importance of biotinidase activity measurement and mutation analysis for early diagnosis.
6 citations
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June 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” This study observed that the SREBF1 mutation c.1669C>T (p.Arg557Cys) may act as a recurrent hotspot mutation associated with both hereditary mucoepithelial dysplasia and autosomal-dominant ichthyosis follicularis with atrichia and photophobia syndrome, suggesting they may be on the same clinical spectrum.
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.
117 citations
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August 1999 in “Nature Genetics” 7 citations
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November 1997 in “Reproduction Fertility and Development” In this study, subcutaneous injections of murine epidermal growth factor in marsupial pouch young inhibited the formation of hair follicles and associated structures, altering normal follicle development.
4 citations
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January 2023 in “Journal of Clinical Investigation” This study identified a recurrent mutation in the endothelin receptor type A associated with mandibulofacial dysostosis with alopecia, and proposed a mechanism involving increased ligand affinity due to structural changes.
1 citations
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October 2010 in “2010 3rd International Conference on Biomedical Engineering and Informatics” This study successfully cloned and characterized the LEF-1 gene from Inner Mongolia Cashmere Goats, potentially aiding efforts to enhance cashmere production through genetic modification.
March 2025 in “FEBS Journal” This study found that Epiprofin acts as a negative regulator of parathyroid hormone transcription, with potential implications for controlling PTH production in hyperparathyroidism.