6 citations
,
August 2022 in “International Journal of Molecular Sciences” EDA signaling is linked to skin disorders, various cancers, and liver disease.
2 citations
,
January 2013 in “Elsevier eBooks” The document explains the genetic causes and characteristics of inherited hair disorders.
75 citations
,
January 2004 in “Molecular and Cellular Biology” XEDAR deficiency prevents muscle degeneration in EDA-A2 transgenic mice.
48 citations
,
January 2012 in “The journal of investigative dermatology/Journal of investigative dermatology” Chemokine signaling is important for hair development.
14 citations
,
September 2001 in “Archives of Dermatological Research” Blocking hair follicle development stops key gene signals needed for hair growth in mice.
2 citations
,
August 2020 in “CRC Press eBooks” Tabby mutations in mice affect hair follicle development and help study genetic mapping and certain medical conditions.
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.
1 citations
,
February 2013 in “InTech eBooks” Genetic mutations cause various hair diseases, and whole genome sequencing may reveal more about these conditions.
July 2023 in “The Keio Journal of Medicine” Certain gene variants can cause inherited hair diseases, which are important to diagnose and understand for patient care.
18 citations
,
June 2014 in “Anais Brasileiros de Dermatologia” Clouston Syndrome can be linked to rare sweat gland tumors.
15 citations
,
July 2024 in “Current Issues in Molecular Biology” Understanding molecular processes in skin development is key to creating targeted treatments for skin disorders.
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.
197 citations
,
June 2009 in “American journal of human genetics” WNT10A mutations often cause ectodermal dysplasias, with males showing more tooth issues than females.
96 citations
,
June 2017 in “Nature Communications” A WNT10A gene mutation leads to ectodermal dysplasia by disrupting cell growth and differentiation.
31 citations
,
August 2005 in “The American Journal of Dermatopathology” The study concluded that PKP1 is essential for skin integrity and hair growth, and its dysfunction causes the symptoms of ectodermal dysplasia/skin fragility syndrome.
28 citations
,
February 2012 in “PLoS ONE” A PKP1 gene mutation causes skin fragility and hair loss in Chesapeake Bay retriever puppies.
January 2026 in “Frontiers in Medicine” A child has a rare hair and skin disorder due to specific gene variants, suggesting broader genetic testing is needed.
July 2024 in “Journal of Dermatological Treatment” Botanical extracts and Minoxidil improved hair condition in a boy with a genetic disorder.
April 2016 in “Journal of Investigative Dermatology” Mutations in the TSPEAR gene cause a new form of ectodermal dysplasia affecting hair and tooth development.
6 citations
,
May 2000 in “Pediatric Dermatology” KID syndrome should be reclassified as an ectodermal dysplasia.
February 2010 in “Journal of the American Academy of Dermatology” Umbilical cord blood transplantation improved the boy's symptoms despite complications.
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.
October 2023 in “Case reports in dermatological medicine” A Jordanian family with Clouston syndrome has a common GJB6 gene mutation.
36 citations
,
August 2018 in “Dermatologic Clinics” Trichoscopy is a useful tool for diagnosing hair disorders without pulling out hair.
November 2019 in “Harper's Textbook of Pediatric Dermatology” The document is a detailed medical reference on skin and genetic disorders.
30 citations
,
June 2021 in “British Journal of Dermatology” Mutations in the WNT10A gene can cause skin, hair, teeth, and other disorders, and may also affect other areas like kidney and cancer, with potential for targeted treatments.
18 citations
,
August 2015 in “Biochemical and Biophysical Research Communications” XEDAR triggers a specific signaling pathway in cells.
12 citations
,
February 2008 in “Journal of The American Academy of Dermatology” Combining skin tissue pathology with genetics has greatly improved the diagnosis and understanding of certain skin diseases.
11 citations
,
May 2011 in “World Journal of Pediatrics” The document emphasizes the importance of correctly identifying and classifying genetic hair disorders to help diagnose related health conditions.