6 citations
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January 2011 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” An 11-year-old Greek girl was diagnosed with a rare genetic disorder, highlighting the importance of genetic testing and family history.
May 2025 in “Texas Digital Library (University of Texas)” Extracellular ATP promotes growth, while adenosine inhibits it in Arabidopsis plants.
January 2023 in “Indian dermatology online journal” A child with ectodermal dysplasia-syndactyly syndrome has a new mutation in the NECTIN4 gene.
19 citations
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March 2017 in “Scientific Reports” HAT-L4 is crucial for preventing body fluid loss by maintaining skin barrier integrity.
A genetic mutation in the EDA gene causes hypohidrotic ectodermal dysplasia in cats.
4 citations
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January 2023 in “Journal of Clinical Investigation” Specific mutations in a receptor cause facial abnormalities and hair loss.
1 citations
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November 2023 in “Indian Journal of Science and Technology” Eclipta alba may improve memory and help treat Alzheimer's disease.
3 citations
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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.
October 2002 in “Dermatologic Surgery”
August 2023 in “Clinical and Experimental Dermatology” The document discusses a special exam case for formulating and using systemic therapy named Athena.
7 citations
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July 2020 in “Immunological Investigations” The rs231775 genetic variant is linked to a higher risk and severity of Alopecia Areata in males.
April 2026 in “Zenodo (CERN European Organization for Nuclear Research)” April 2026 in “Zenodo (CERN European Organization for Nuclear Research)”
26 citations
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June 2018 in “The journal of immunology/The Journal of immunology” AIRE-deficient rats developed severe autoimmune disease similar to APECED, useful for testing treatments.
1 citations
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November 2001 in “Acc Current Journal Review” Electron Beam Tomography (EBT) is a useful additional test to stress testing for detecting heart disease.
28 citations
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March 2010 in “British Journal of Dermatology” Genetic marker rs12558842 strongly linked to male hair loss.
1 citations
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September 1986 in “Journal of the Forensic Science Society” Hair root sheaths can be used to accurately analyze genetic markers.
July 2017 in “OPAL (Open@LaTrobe) (La Trobe University)” High-throughput LC-MS screening is effective for finding new autotaxin inhibitors for asthma treatment.
15 citations
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December 2020 in “International journal of molecular sciences” Epidermal stem cells create and maintain skin structures like hair and nails through specific signaling pathways and vary by location and function.
January 2024 in “Research Portal Denmark” H+-ATPase is crucial for plant growth and can be influenced by microbial compounds, affecting root hair development.
4 citations
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November 2015 in “The journal of investigative dermatology. Symposium proceedings/The Journal of investigative dermatology symposium proceedings” Eosinophilic esophagitis may trigger alopecia areata in some patients.
305 citations
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March 2008 in “AJP Endocrinology and Metabolism” SSAT is a key enzyme affecting cell growth and metabolism, with potential but risky use in disease treatment.
43 citations
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November 2009 in “Archives of dermatology” Alefacept does not effectively treat severe alopecia areata.
March 2026 in “Calcified Tissue International” The EDA pathway plays a key role in bone development by interacting with other signaling pathways.
June 2025 in “Preprints.org” EDA is vital for bone and cartilage formation and could help treat skeletal disorders.
1 citations
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June 2019 in “Current developments in nutrition” A patient with Ehlers-Danlos Syndrome improved after treatment for fat malabsorption and essential fatty acid deficiency.
1 citations
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May 2023 in “The Journal of Dermatology” Allergen-specific immunotherapy can significantly improve hair loss and dermatitis symptoms in severe cases.
12 citations
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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.
April 2016 in “Journal of Investigative Dermatology” Mutations in the TSPEAR gene cause a new form of ectodermal dysplasia affecting hair and tooth development.
March 2026 in “JID Innovations” Aire mutation reduces alopecia areata, while Notch4 mutation prevents it in mice.