11 citations
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June 2012 in “Acta histochemica” Mice with a Gsdma3 gene mutation have thicker skin and longer hair follicle openings due to increased β-catenin levels.
A genetic mutation in the EDA gene causes hypohidrotic ectodermal dysplasia in cats.
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.
SH-SY5Y cell lysate is effective for diagnosing Satoyoshi syndrome.
July 2026 in “Journal of Investigative Dermatology” 175 citations
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December 1980 in “Archives of Dermatology” Trichothiodystrophy is a condition with brittle hair and various physical and mental issues due to low sulfur in proteins.
January 2013 in “International Journal of Trichology” Early diagnosis and a multidisciplinary approach are crucial for children with Trichothiodystrophy and hidden learning disorders.
July 2014 in “Journal of the Dermatology Nurses' Association” The document concluded with a call for article submissions for the 2014 Writing Awards.
26 citations
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June 2024 in “Frontiers in Immunology” SOCS1 and SOCS3 help control skin inflammation and are important for developing treatments for skin diseases.
10 citations
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January 1997 in “Dermatology” Two siblings were diagnosed with Trichothiodystrophy, identified by brittle hair and low sulfur content.
July 2025 in “Journal of Investigative Dermatology” Three molecular subtypes of advanced skin T-cell lymphoma were identified, with potential biomarkers for predicting treatment response and disease progression.
1 citations
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August 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” A new mutation in the TMEM173 gene and a risk allele in IFIH1 cause a unique set of immune-related symptoms.
8 citations
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July 2013 in “PLoS ONE” DNA can be quickly and effectively extracted from hair using laundry powder.
22 citations
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March 2017 in “Transplant Infectious Disease” Leflunomide successfully treated a rare skin condition in a liver transplant patient.
1 citations
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August 2023 in “Journal of Investigative Dermatology” Farudodstat may help treat alopecia areata by protecting hair follicles.
December 2023 in “Intisari Sains Medis” SLE and DM can coexist but are rare and need careful evaluation.
1 citations
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September 2023 in “Clinical, cosmetic and investigational dermatology” Certain genetic variants linked to immune response increase the risk of alopecia areata in Taiwanese people.
1 citations
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October 2021 in “Journal of Investigative Dermatology” 10 citations
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November 2023 in “Science Immunology” Super-enhancers control CD25 expression in specific cell types, affecting immune function.
November 2025 in “Journal of Investigative Dermatology” A new genetic mutation causing Xeroderma Pigmentosum was found in an 8-year-old girl, affecting her DNA repair.
1 citations
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July 2024 in “JCEM Case Reports” A new genetic variant of Woodhouse-Sakati syndrome was found in two adult sisters in Russia.
April 2019 in “Journal of Investigative Dermatology” DPP4-positive fibroblasts play a major role in producing proteins that lead to skin fibrosis.
July 2016 in “American Journal of Dermatopathology” The meeting showcased rare skin disease cases, highlighting the need for accurate diagnosis and treatment.
22 citations
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March 2020 in “Journal of The American Academy of Dermatology” DSC cell injections significantly improved hair density and diameter, showing potential as a hair loss treatment.
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.
7 citations
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March 2004 in “Journal of the American Academy of Dermatology” Tiger tail banding and hair abnormalities are reliable indicators for diagnosing trichothiodystrophy.
28 citations
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July 2008 in “Developmental Biology” Smad4 is important for healthy hair follicles because it helps produce a protein needed for hair to stick together and grow.
November 2022 in “Journal of Investigative Dermatology” Mitochondrial stress can lead to atopic dermatitis.
January 2017 in “Journal of Chemical Biological and Physical Sciences” Human hair keratin genes have unique simple sequence repeats that may help track genetic variations.
June 2020 in “Journal of Investigative Dermatology” Atopic dermatitis shows a link between skin layers in inflammation, detectable with detailed gene analysis.