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.
109 citations
,
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.
35 citations
,
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.
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.
August 2025 in “BMC Pregnancy and Childbirth” A new EDA gene variant causes X-linked hypohidrotic ectodermal dysplasia in a Chinese family.
A genetic mutation in the EDA gene causes hypohidrotic ectodermal dysplasia in cats.
March 2026 in “Calcified Tissue International” The EDA pathway plays a key role in bone development by interacting with other signaling pathways.
120 citations
,
February 2009 in “Apoptosis” Understanding how cells die in the skin is important for treating skin diseases and preventing hair loss.
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.
5 citations
,
September 2002 in “Archives of Dermatology” Dermatologists diagnose and manage melanoma more effectively than general practitioners.
February 2026 in “Orphanet Journal of Rare Diseases” Most genetic mutations causing hypohidrotic ectodermal dysplasia in Russian patients are found in the EDA gene.
Recognizing mild or atypical cases of ectodermal dysplasia is crucial for better treatment and future planning.
January 2016 in “Research Explorer (The University of Manchester)” Activating the Eda/Edar pathway improves wound healing by enhancing hair follicle growth.
5 citations
,
September 2015 in “BMC Medical Genetics” The EDAR gene mutation leads to thinner and more deformed hair shafts.
4 citations
,
August 2016 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology” Using cetirizine on the skin and taking vitamin D can help increase hair growth in children with hair loss from ectodermal dysplasia.
Lhx2 is a crucial regulator of the Sonic Hedgehog signaling in early mouse retinal development.
Lhx2 helps retinal cells respond to signals for eye development.
Lhx2 is essential for effective Sonic Hedgehog signaling in early retinal development.
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.
August 2022 in “Biomedicines” Turning off the Lhx2 gene in mouse embryos leads to slower wound healing and scars.
August 2025 in “International Journal of Contemporary Pediatrics” HLD10 can include increased body hair and Mongolian spots.
4 citations
,
January 2011 in “European journal of dermatology/EJD. European journal of dermatology” A boy had a rare scalp condition with thickened skin and different-colored hair.
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.
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.
A man with a rare lung-focused form of hypereosinophilic syndrome improved with steroid treatment.
April 2023 in “Journal of Investigative Dermatology” LSD1 is essential for healthy skin development and creating the skin's protective barrier.
4 citations
,
January 2017 in “Acta dermato-venereologica” A new EDA gene mutation was found in a Chinese family with a specific skin disorder.
1 citations
,
June 2023 in “The FASEB journal” LSD1 and HSP90 help heal skin wounds by changing hair follicle stem cells' metabolism.
24 citations
,
May 2019 in “PLOS genetics” Mutations in the HEPHL1 gene cause abnormal hair and cognitive issues.
11 citations
,
July 2010 in “European Journal of Dermatology” The condition is linked to chromosome 12, but no mutations were found in the known genes.