124 citations
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December 1983 in “Developmental Biology” EGF receptors are crucial for skin cell growth and decrease with age.
December 2021 in “Figshare” This study found that BBS7 expression is crucial for maintaining Sonic hedgehog signaling and periodontal ligament homeostasis in occlusal hypofunctional conditions.
April 2018 in “Journal of Investigative Dermatology” This study found that the absence of Hes1 in hair follicles delays secondary hair germ activation and shortens the anagen phase, impacting HFSC self-renewal and long-term hair regeneration.
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.
15 citations
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May 2013 in “American Journal of Medical Genetics - Part A” People with X-linked hypohidrotic ectodermal dysplasia have no sweat ducts and less, thinner hair.
39 citations
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October 2012 in “Familial cancer” This review covers the molecular basis of Birt–Hogg–Dubé syndrome and its implications for potential therapeutic targets, but it does not report new experimental results.
July 2018 in “Kidney international” This case study describes a 9-year-old girl with a homozygous EGFR gene mutation, presenting with tubulopathy and chronic dermatitis, whose ongoing symptoms and management offer insights into this rare genetic condition.
December 2021 in “Figshare” This study found that BBS7 expression is crucial for maintaining Sonic hedgehog signaling activity and periodontal ligament homeostasis, suggesting its downregulation in occlusal hypofunction affects cell migration and angiogenesis.
October 2024 in “SPIRE - Sciences Po Institutional REpository” This study highlights that human hair follicle dermal papilla cells and glypicans play crucial roles in regulating hair follicle stem cell differentiation.
1 citations
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November 2024 in “Orphanet Journal of Rare Diseases” Changes in genes FGA, VWF, and ACTG1 may contribute to pemphigus vulgaris.
December 2021 in “Figshare” This study found that downregulation of BBS7 in periodontal ligament cells was associated with reduced Sonic hedgehog signaling, which plays a crucial role in maintaining PDL homeostasis.
September 2023 in “Journal of the American Academy of Dermatology” Bullous pemphigoid can look like erythema multiforme, so awareness is needed for proper treatment.
75 citations
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January 2004 in “Molecular and Cellular Biology” In this study, EDA-A2 transgenic mice exhibited multifocal myodegeneration dependent on XEDAR, suggesting a potential role for XEDAR in skeletal muscle homeostasis.
9 citations
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August 2021 in “Biomedicines” This study found that 17β-estradiol was the most powerful hormone for inducing APE1/Ref-1 secretion in cultured vascular endothelial cells, with secretion occurring through exosomes dependent on estrogen receptors and intracellular calcium.
January 2016 in “Institutional Repositories DataBase (IRDB)” This study examined the expression of fatty acid transporters and binding proteins in mouse sebaceous glands and found that CD36 did not affect the localization of other related molecules.
5 citations
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January 2015 in “Case reports in medicine” In this case report, a novel missense mutation c.1360G>C (p.Ala454Pro) in the MBTPS2 gene was identified in a boy with typical IFAP syndrome and severe atopic features, although no phenotype/genotype correlation was established.
7 citations
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September 2013 in “Familial cancer” This review discusses recent insights into Birt–Hogg–Dube syndrome, including the functions of the FLCN gene and clinical recommendations for screening and treatment, but it reports no new experimental results.
5 citations
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February 2014 in “PloS one” This study reports differential gene expression in the leading edge and inner surface epithelial cells of murine eyelids, suggesting that distinct signaling pathways are active during embryonic eyelid closure.
March 2022 in “Oncology Times” In this study, tebentafusp-tebn improved overall survival in patients with metastatic uveal melanoma compared to standard therapies, despite higher rates of significant adverse events.
1 citations
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April 2025 in “Pediatria i Medycyna Rodzinna” This research re-analyzed single-cell gene expression data from a mouse model, confirming that certain genes involved in the EDA-EDAR and WNT pathways are crucial for skin appendage development, suggesting that their restoration may mitigate the effects of hypohidrotic ectodermal dysplasia in children.
40 citations
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May 2005 in “Journal of Cell Science” In this study, transgenic mice expressing a truncated form of latent transforming growth factor-β-binding protein exhibited altered hair cycles due to increased active transforming growth factor-β, impacting keratinocyte proliferation and hair cycle phases.
December 2021 in “Figshare” This study found that BBS7 is downregulated in occlusal hypofunctional periodontal ligament, suggesting it plays a crucial role in maintaining Shh signaling for PDL homeostasis.
99 citations
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March 2013 in “Journal of Investigative Dermatology” This study identified ABCB6 as the first gene linked to dyschromatosis universalis hereditaria (DUH) in a large Chinese family, suggesting it plays a role in skin pigmentation.
36 citations
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February 2018 in “British Journal of Dermatology” In this study, researchers found that eccrine sweat glands in human scalp skin are morphologically integrated into the pilosebaceous unit, suggesting they form a common homeostatic tissue environment with adjacent structures.
April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” This study observed that mice lacking epidermal HSD11b1 had increased non-histaminergic itch and changes in skin nerve fibers, potentially linked to higher TSLP expression.
125 citations
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February 2007 in “The EMBO Journal” Fgfr2b helps maintain healthy skin and prevent cancer.
20 citations
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November 2003 in “American Journal Of Pathology” Fibroblasts from healthy donors can prevent changes seen in recessive epidermolysis bullosa simplex.
This study identified a missense variant in the EDA gene of a male cat, which likely caused hypohidrotic ectodermal dysplasia, characterized by hair and teeth abnormalities; this represents the first report of such a genetic condition in cats.
26 citations
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August 2019 in “Stem Cell Research & Therapy” This study found that PBX1 enhances the proliferation and reprogramming of hair follicle mesenchymal stem cells by activating the AKT/GSK3β signaling pathway, promoting NANOG expression, and inhibiting apoptosis.
151 citations
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August 2011 in “The EMBO Journal” The enzyme PA-PLA1α is important for proper hair follicle development.