64 citations
,
November 2012 in “EMBO reports” Lamins are vital for cell survival, organ development, and preventing premature aging.
CRISPR gene editing reduces harmful molecules in cells from Emery–Dreifuss Muscular Dystrophy patients.
39 citations
,
January 2019 in “Cells” Gene therapy has potential as a future treatment for Hutchinson-Gilford progeria syndrome.
August 2025 in “BMC Pregnancy and Childbirth” A new EDA gene variant causes X-linked hypohidrotic ectodermal dysplasia in a Chinese family.
30 citations
,
June 2016 in “Journal of Human Genetics” Researchers found genetic mutations causing hypohidrotic ectodermal dysplasia in 88% of studied patients and identified new mutations and genetic variations affecting the disease.
January 2018 in “Stem cell biology and regenerative medicine” The conclusion is that the nuclear lamina and LINC complex in skin cells respond to mechanical signals, affecting gene expression and cell differentiation, which is important for skin health and can impact skin diseases.
30 citations
,
June 2014 in “Seminars in Immunology” Future research on ectodysplasin should explore its role in diseases, stem cells, and evolution, and continue developing treatments for genetic disorders like hypohidrotic ectodermal dysplasia.
6 citations
,
May 2014 in “Biomarkers and Genomic Medicine” Charnoly bodies could be a marker for cell damage, and certain nutrients and proteins might prevent them, potentially helping with brain diseases and cancer.
4 citations
,
January 2017 in “Acta dermato-venereologica” A new EDA gene mutation was found in a Chinese family with a specific skin disorder.
6 citations
,
August 2022 in “International Journal of Molecular Sciences” EDA signaling is linked to skin disorders, various cancers, and liver disease.
November 2025 in “Indian Journal of Dermatology” Early diagnosis and multidisciplinary care are crucial for improving the quality of life in patients with ectodermal dysplasia.
8 citations
,
November 1990 in “Archives of Dermatology” A woman with EMS showed unusual skin mucinosis without the typical hard skin syndrome, suggesting EMS can cause skin mucinosis.
January 2024 in “Frontiers research topics” Comprehensive genetic testing and international collaboration are crucial for better understanding and managing Ehlers-Danlos syndromes.
75 citations
,
January 2004 in “Molecular and Cellular Biology” XEDAR deficiency prevents muscle degeneration in EDA-A2 transgenic mice.
39 citations
,
January 2016 in “PubMed” Understanding how EDC genes are regulated can help develop better drugs for skin diseases.
17 citations
,
August 2012 in “Journal of Medical Genetics” A new mutation in the XEDAR gene might cause a rare skin condition called hypohidrotic ectodermal dysplasia.
1 citations
,
November 2017 in “Expert opinion on orphan drugs” Scientists now better understand the genetics of hypohidrotic ectodermal dysplasia, leading to more accurate diagnoses and potential new treatments.
12 citations
,
January 2016 in “Journal of Orofacial Orthopedics / Fortschritte der Kieferorthopädie” Researchers found a new mutation in the EDA gene that likely causes missing teeth and mild skin symptoms in one family.
February 2026 in “Orphanet Journal of Rare Diseases” Most genetic mutations causing hypohidrotic ectodermal dysplasia in Russian patients are found in the EDA gene.
23 citations
,
February 2025 in “Advanced Materials” The dressing speeds up wound healing by 41% using moisture-generated electricity and antibacterial properties.
61 citations
,
January 2013 in “International Journal of Biological Macromolecules” Combining DHT and EDC improves the strength and stability of PADM scaffolds for tissue engineering.
1 citations
,
June 2019 in “Current developments in nutrition” A patient with Ehlers-Danlos Syndrome improved after treatment for fat malabsorption and essential fatty acid deficiency.
2 citations
,
January 2018 in “Biomolecules & therapeutics” Polyamidoamine dendrimers can change the strength and direction of electroosmotic flow through the skin, affecting drug delivery.
A genetic mutation in the EDA gene causes hypohidrotic ectodermal dysplasia in cats.
20 citations
,
February 2019 in “Genes” The study concludes that mutations in the AEBP1 gene can cause a form of Ehlers-Danlos syndrome and should be considered in diagnosis.
February 2025 in “Cermin Dunia Kedokteran” ADEM is a sudden brain disorder often following infection or vaccination, diagnosed by ruling out other conditions.
1 citations
,
June 2025 in “Journal of Veterinary Internal Medicine” The donkey had a severe disease affecting multiple organs and was euthanized.
3 citations
,
August 2021 in “Research Square (Research Square)” The most common sign of aging at the gene level is more Ectodysplasin A2 Receptor (EDA2R) being made.
12 citations
,
December 2020 in “Archives animal breeding/Archiv für Tierzucht” EDA and EDAR are important for hair follicle development in cashmere goats and affect other related genes.
32 citations
,
February 2016 in “The American journal of dermatopathology/American journal of dermatopathology” Extramammary Paget disease can spread deeply into tissues, reaching up to 3.6 mm.