35 citations
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April 2014 in “American Journal of Medical Genetics” Boys with less severe EDA mutations in XLHED have milder symptoms and better sweat and hair production.
15 citations
,
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.
Recognizing mild or atypical cases of ectodermal dysplasia is crucial for better treatment and future planning.
January 2026 in “Acta Dermato Venereologica” Dupilumab effectively treats severe skin issues in a rare genetic disorder.
A genetic mutation in the EDA gene causes hypohidrotic ectodermal dysplasia in cats.
August 2025 in “BMC Pregnancy and Childbirth” A new EDA gene variant causes X-linked hypohidrotic ectodermal dysplasia in a Chinese family.
109 citations
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October 2007 in “American Journal of Human Genetics” Giving a special protein to dogs with a certain genetic disease improved their symptoms but didn't help with hair growth.
37 citations
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June 2002 in “The Laryngoscope” Ectodermal dysplasia causes various symptoms and early treatment is important for eye, dental, and skin issues.
Genetic mutations linked to ectodermal dysplasias and hair loss were identified in Pakistani families.
1 citations
,
November 2025 in “Aging Cell” EDA2R is a key gene linked to ageing and diseases, and targeting it may help treat conditions like hair loss and chronic diseases.
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.
18 citations
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August 2015 in “Biochemical and Biophysical Research Communications” XEDAR triggers a specific signaling pathway in cells.
2 citations
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August 2020 in “CRC Press eBooks” Tabby mutations in mice affect hair follicle development and help study genetic mapping and certain medical conditions.
February 2026 in “Orphanet Journal of Rare Diseases” Most genetic mutations causing hypohidrotic ectodermal dysplasia in Russian patients are found in the EDA gene.
6 citations
,
August 2022 in “International Journal of Molecular Sciences” EDA signaling is linked to skin disorders, various cancers, and liver disease.
30 citations
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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.
89 citations
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September 2010 in “Annual Review of Genomics and Human Genetics” The document concludes that understanding the genes and pathways involved in hair growth is crucial for developing treatments for hair diseases.
25 citations
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September 2005 in “Journal of the American Academy of Dermatology” Rapp-Hodgkin syndrome, AEC, and EEC are different expressions of the same genetic disorder caused by TP63 gene mutations.
85 citations
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August 2015 in “Journal of Applied Genetics” Mutations in specific genes disrupt development of sweat glands, teeth, hair, skin, and nails in HED.
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.
30 citations
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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.
17 citations
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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
,
April 2025 in “Pediatria i Medycyna Rodzinna” Restoring EDA and WNT pathways early may help improve skin, hair, and teeth issues in hypohidrotic ectodermal dysplasia.
71 citations
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November 2005 in “The journal of investigative dermatology. Symposium proceedings/The Journal of investigative dermatology symposium proceedings” Edar signaling is crucial for proper hair follicle development and function.
2 citations
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September 2021 in “Orphanet Journal of Rare Diseases” People with hypohidrotic ectodermal dysplasia are more likely to experience long-term fatigue and hair loss after COVID-19.
4 citations
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November 2020 in “Acta Dermato Venereologica” Tofacitinib effectively improved severe skin symptoms in a patient with Hypohidrotic Ectodermal Dysplasia.
4 citations
,
January 2017 in “Acta dermato-venereologica” A new EDA gene mutation was found in a Chinese family with a specific skin disorder.
2 citations
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May 2016 in “Journal of dermatology” Tissue expansion successfully treated alopecia in a child with hypohidrotic ectodermal dysplasia.
48 citations
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January 2012 in “The journal of investigative dermatology/Journal of investigative dermatology” Chemokine signaling is important for hair development.
1 citations
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February 2013 in “InTech eBooks” Genetic mutations cause various hair diseases, and whole genome sequencing may reveal more about these conditions.