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A New Mutation Resulting in the Truncation of the TRAF6-Interacting Domain of XEDAR: A Possible Novel Cause of Hypohidrotic Ectodermal Dysplasia

research A New Mutation Resulting in the Truncation of the TRAF6-Interacting Domain of XEDAR: A Possible Novel Cause of Hypohidrotic Ectodermal Dysplasia

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.

research Molecular Principles of Hair Follicle Induction and Morphogenesis

479 citations, January 2005 in “BioEssays”

Hair follicle development is controlled by interactions between skin tissues and specific molecular signals.

research Genetic Variation in the Human Androgen Receptor Gene Is the Major Determinant of Common Early-Onset Androgenetic Alopecia

195 citations, July 2005 in “American Journal of Human Genetics”

Genetic variation in the androgen receptor gene mainly causes early-onset hair loss, with maternal inheritance playing a key role.

Mutational Spectrum in 101 Patients with Hypohidrotic Ectodermal Dysplasia and Breakpoint Mapping in Independent Cases of Rare Genomic Rearrangements

research Mutational Spectrum in 101 Patients with Hypohidrotic Ectodermal Dysplasia and Breakpoint Mapping in Independent Cases of Rare Genomic Rearrangements

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.

Migration Inhibitory Factor in Conditioned Medium from Human Umbilical Cord Blood-Derived Mesenchymal Stromal Cells Stimulates Hair Growth

research Migration Inhibitory Factor in Conditioned Medium from Human Umbilical Cord Blood-Derived Mesenchymal Stromal Cells Stimulates Hair Growth

19 citations, May 2020 in “Cells”

Substance from human umbilical cord blood cells promotes hair growth.

research Keratinocyte-Specific Ablation of the NF-κB Regulatory Protein A20 (TNFAIP3) Reveals a Role in the Control of Epidermal Homeostasis

76 citations, May 2011 in “Cell death and differentiation”

A20 protein is crucial for normal skin and hair development.

research Advances in the Genetic Understanding of 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.

research Convergent Decay of Skin-Specific Gene Modules in Pangolins

1 citations, December 2022 in “bioRxiv (Cold Spring Harbor Laboratory)”

Pangolins have lost some skin-related genes, but kept others, showing complex skin evolution.

AnnoPharma: Detection of Substances Responsible for Adverse Drug Reactions by Annotating and Extracting Information from MEDLINE Abstracts

research AnnoPharma: Detection of Substances Responsible for Adverse Drug Reactions by Annotating and Extracting Information from MEDLINE Abstracts

5 citations, May 2013

AnnoPharma effectively identifies substances causing adverse drug reactions in medical abstracts.