January 2018 in “Stem cell biology and regenerative medicine” This paper reviews the role of ATP-dependent chromatin remodeling complexes in epidermal homeostasis, hair regeneration, and skin repair, noting contributions to 3D-genomic organization and suppression of UV-induced hyper-proliferation, without presenting new results.
January 2020 in “Medical journal of clinical trials & case studies” This report details a case of dystrophic epidermolysis bullosa in a 37-year-old male with a recessive mutation in the CLO7A1 gene, affecting type VII collagen.
36 citations
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January 2010 in “Journal of Pediatric Endocrinology and Metabolism” This study identified a novel nonsense mutation in the VDR gene in two patients with hereditary vitamin D resistant rickets and alopecia, leading to resistance to 1,25-dihydroxyvitamin D3.
February 2016 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” This study reports a novel mutation in the TP63 gene associated with T and B cell lymphopenia in an EEC patient, suggesting that EEC diagnosis should include TREC assay and evaluation for immunodeficiency.
151 citations
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June 2010 in “Endocrinology and metabolism clinics of North America” This article compares two rare genetic diseases, vitamin D-dependent rickets type 1 and type 2, focusing on their similar presentations of hypocalcemia and rickets in infancy, but reports no new clinical results.
6 citations
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June 2021 in “Developmental biology” This study found that dermal EZH2 plays a crucial role in controlling fibroblast differentiation by regulating Wnt/β-catenin and retinoic acid signaling during skin development.
66 citations
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December 1999 in “Journal of Investigative Dermatology” New mutations in the hairless gene may cause hair loss and affect bone development.
1 citations
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September 2021 in “Cureus” This study found that the rs1128977 SNP in the RXRG gene may be linked to altered clinical characteristics such as higher HDL-cholesterol levels and increased body mass index in individuals with dyslipidemia.
10 citations
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January 2010 in “Veterinary pathology” This study found that a newly identified mutation in the hairless gene in mice led to decreased Hr mRNA levels and changes in gene expression related to hair follicle development.
November 2025 in “Journal of Investigative Dermatology” Ritlecitinib effectively treats severe Alopecia Areata by reducing harmful immune activity in the skin.
July 2026 in “Pediatric Allergy and Immunology” 64 citations
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February 2008 in “Cancer Research” This study reports that eliminating both Trp53 and Rb genes in mouse epidermis accelerates aggressive squamous cell carcinoma development due to early activation of the epidermal growth factor receptor/Akt pathway.
April 2017 in “Journal of Investigative Dermatology” Deleting Crif1 in mouse skin disrupts skin balance and hair growth.
December 2024 in “CONICET Digital (CONICET)” This study found that the small signaling peptide RALF22 plays a key role in root hair growth response to volatile compounds emitted by Penicillium aurantiogriseum through ethylene, auxin, and photosynthesis signaling in Arabidopsis.
October 2020 in “Pediatrics in Review” This case report describes a newborn diagnosed with dominant dystrophic epidermolysis bullosa due to a COL7A1 mutation, following the presentation of blisters that healed without further complications.
477 citations
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March 2004 in “Proceedings of the National Academy of Sciences” This study reports that the DMI3 gene, essential for nodule formation in legume-rhizobial symbiosis, encodes a calcium/calmodulin-dependent protein kinase, highlighting its role in multiple plant symbioses.
8 citations
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December 2016 in “Hormone Research in Paediatrics” This study reported a series of eight children with hereditary vitamin D-resistant rickets in Tunisia, identifying both common and novel mutations in the vitamin D receptor gene, and noting significant improvement with intravenous calcium treatment in most patients.
24 citations
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January 2023 in “Cancer Research” This study suggests that activating AMPK to phosphorylate ZDHHC13 may enhance MC1R function and reduce melanoma risk in individuals with red hair.
10 citations
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August 1998 in “Journal of Investigative Dermatology” 35 citations
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August 2006 in “Molecular genetics and metabolism” This study found significant variation in tissue mutant load in individuals with the T8993G mutation, which complicates genetic counseling and may inform genotype-phenotype correlations, especially using hair bulb mtDNA analysis.
3 citations
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April 2012 in “Bioinformation” This study concluded that specific SNPs in the TRPS1 gene significantly alter its protein structure, affecting interactions and contributing to the development of congenital hypertrichosis.
143 citations
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May 2002 in “PubMed” This study found that the retinoid LGD1069 suppressed mammary tumorigenesis in a mouse model without observable toxicity, while TTNPB showed modest effects but was associated with significant toxicity.
19 citations
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December 2015 in “European Journal of Human Genetics” This study found that a novel rare variant in ITGB6 may cause intellectual disability, alopecia, and dentogingival anomalies in a specific Pakistani family, highlighting a potential role for ITGB6 beyond enamel formation.
In this study, researchers discovered that the HrasG12V oncogenic mutation in murine skin epithelial cells initially promotes progenitor cell renewal but later leads to a balanced differentiation, stabilizing clone growth.
December 2021 in “Figshare” This study found that BBS7 is important for Sonic hedgehog signaling activity, which may be crucial for maintaining periodontal ligament homeostasis in occlusal hypofunction.
14 citations
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March 2016 in “Mechanisms of Development” This study found that BNC2 is critical for hair follicle regeneration and other developmental processes, as Bnc2−/− mice exhibit incomplete hair follicle development and developmental defects, and BNC1 cannot substitute for BNC2.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” In this study, researchers found that the loss of SETDB1 in epidermal keratinocytes led to altered chromatin states, increased ERV expression, and activation of immune responses, while inhibiting these effects with certain antiviral drugs reduced skin inflammation and hair loss in a mouse model.
July 2025 in “Journal of Investigative Dermatology”
April 2017 in “Journal of Investigative Dermatology” This case study reports that a heterozygous missense GJA1 mutation, p.Gly138Ser, in a 2-year-old boy with oculodentodigital syndrome primarily resulted in syndactyly, fifth finger hypoplasia, and hypotrichosis, without neurological or craniofacial abnormalities.
77 citations
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April 2005 in “Journal of Investigative Dermatology” Repetin is a protein involved in skin and hair development, binding calcium and compensating for other proteins when needed.