August 2025 in “BMC Pregnancy and Childbirth” In this study, prenatal ultrasonography was found to be a valuable tool for screening ectodermal dysplasia during pregnancy, and a new EDA gene variant associated with X-linked hypohidrotic ectodermal dysplasia was identified, aiding in more accurate diagnoses and reproductive decision-making.
April 2018 in “Journal of Investigative Dermatology” This study observed that β-catenin overexpression in human squamous cell carcinoma cells led to increased CREB expression, which significantly enhanced clonogenic activity, suggesting CREB as a β-catenin-regulated factor promoting cancer characteristics.
18 citations
,
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.
28 citations
,
November 2018 in “Journal of Cellular and Molecular Medicine” This review discusses the role of the CXXC5 protein as a transcription factor and signaling coordinator, noting its involvement in embryonic development, tissue homeostasis, and diseases such as tumorigenesis, but reports no new experimental findings.
45 citations
,
April 2018 in “Nature Reviews Urology” This review discusses the molecular mechanisms of masculinization involving androgen signaling and their roles in male embryonic development and conditions like hypospadias and prostate cancer, and reports no clinical results.
8 citations
,
March 2021 in “Medicina-lithuania” This review discusses the use of platelet-rich plasma for treating female androgenetic alopecia, reporting that it shows high patient satisfaction and improved quality of life in affected women.
5 citations
,
January 2022 in “Asian Pacific Journal of Cancer Prevention” This study found that the rs2228570 polymorphism of the VDR gene was associated with an increased risk of melanoma, while the rs731236 polymorphism was linked to a protective effect against the disease in Colombian patients.
September 2023 in “Frontiers in medicine” This review suggests that the mTOR signaling pathway may play a significant role in hair follicle health by influencing the effects of Vitamin D receptor deficiency, potentially contributing to hair follicle damage and related hair loss conditions.
14 citations
,
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.
1 citations
,
June 2022 in “Chinese medical journal/Chinese Medical Journal” This study identified two novel mutations in the CDH3 gene causing HJMD in a Chinese patient, expanding the genetic and phenotypic understanding of the disorder.
25 citations
,
November 2020 in “Proceedings of the National Academy of Sciences” This study found that the HoxC gene cluster plays a critical role in the development of ectodermal organs, including hair and nails, with mammalian-specific enhancers increasing transcription levels during development.
This study found that in early retinal neurogenesis in mice, the transcription factor Lhx2 regulates Sonic Hedgehog signaling by controlling expression of pathway genes like the co-receptors Gas1 and Cdon.
April 2018 in “Journal of Investigative Dermatology” This study found that the RNA helicase DDX6 is essential for maintaining self-renewal in epidermal progenitor cells by promoting the translation of proliferation regulators and degrading differentiation-inducing mRNAs.
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.
January 2024 in “Animals” This study suggests that the transcription factors SP1 and KROX20 regulate CUX1 gene's effect on the proliferation of ovine dermal papilla cells in vitro.
This study found that the transcription factor Lhx2 regulates Sonic Hedgehog signaling in mouse retinal progenitor cells, mainly by controlling the expression of co-receptors essential for effective pathway activation during early retinal neurogenesis.
17 citations
,
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.
43 citations
,
September 2001 in “Annals of Neurology” This study found that somatic mosaic mutations in the doublecortin gene may cause subcortical band heterotopia in male patients, and molecular analysis using hair roots is a useful detection method.
3 citations
,
May 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” In this study, researchers found that skin pigmentation alterations in a mouse model of Carney complex may be caused by specific dermal fibroblasts promoting melanogenic signaling.
This case report describes a novel mutation in the CDH3 gene in an 11-year-old Iranian boy with sparse scalp hair and macular dystrophy, leading to altered P-cadherin synthesis.
9 citations
,
June 2017 in “American journal of ophthalmology. Case reports” This case report identifies a novel CDH3 gene mutation associated with hypotrichosis with juvenile macular dystrophy in a 13-year-old Turkish girl, highlighting implications for future genetic analysis and counseling.
3 citations
,
December 2013 in “Balkan Journal of Medical Genetics” This case report highlights the use of microarray analysis to identify cryptic chromosomal rearrangements in a young woman with intellectual disability and multiple congenital anomalies.
109 citations
,
October 2007 in “American Journal of Human Genetics” This study found that postnatal treatment with recombinant EDA normalized adult teeth, improved sweating, and restored normal lacrimation in dogs with XLHED, suggesting its potential as a treatment for the condition.
22 citations
,
April 2012 in “The American journal of pathology” This study found that the loss of Msx2 in knockout mice led to phenotypes similar to Peters anomaly and microphthalmia, suggesting that MSX2 plays a critical role in anterior segment development of the eye.
July 2024 in “Journal of Investigative Dermatology” CRISPR/Cas9 and prime editing can potentially fix skin disorder genes safely and effectively.
19 citations
,
November 2016 in “Developmental Biology”
9 citations
,
October 2022 in “Nature Communications” In this study, researchers developed a new photoactivatable Cre recombinase mouse model, DiLiCre, which allows precise light-induced genetic modifications and cell tracing, demonstrating its effectiveness for advancing biological and biomedical research.
5 citations
,
January 2017 in “Arquivos Brasileiros de Oftalmologia” This report describes a novel mutation in the CDH3 gene in an 11-year-old Iranian boy with hypotrichosis and juvenile macular dystrophy, indicating a new genetic variant associated with the disorder.
19 citations
,
August 2023 in “Experimental & Molecular Medicine” This study found that the CXXC5 protein is overexpressed in diabetic foot ulcer tissues, suppressing wound healing, and that the small molecule KY19334 accelerated healing in diabetic mice by activating the Wnt/β-catenin pathway.
152 citations
,
April 2002 in “The journal of investigative dermatology/Journal of investigative dermatology” This study presents evidence that keratitis–ichthyosis–deafness syndrome is caused by a mutation in the connexin 26 gene, expanding the gene's known involvement in various disorders.