November 2022 in “Journal of Investigative Dermatology” Scientists developed a new way to study mutations in a skin condition using blood cells, which may help diagnose and treat the disease.
April 2018 in “Journal of Investigative Dermatology” CENPV, a new partner of CYLD, helps regulate ciliary acetylated tubulin and is overexpressed in certain skin tumors.
January 2020 in “Työväentutkimus Vuosikirja” Corneal health relies on cell migration and cooperation with the lacrimal gland, not Bmi1+ cells, and Eda gene mutations can cause dry eye disease.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” SETDB1 is essential for controlling DNA methylation, silencing retrotransposons, and maintaining skin cell health, with its absence leading to skin inflammation and hair loss.
A person with a new mutation in the SCN1A gene developed brain inflammation after COVID-19.
39 citations
,
September 2018 in “American Journal of Medical Genetics Part A” A new genetic mutation in the ODC1 gene causes developmental delay and other symptoms in a young girl.
February 2026 in “Indian Journal of Dermatology” Upadacitinib may effectively treat twenty-nail dystrophy without causing pain.
5 citations
,
April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” The gene therapy showed significant wound healing and was safe for treating severe RDEB.
15 citations
,
August 2022 in “The Application of Clinical Genetics” ABCD1 gene mutations cause adrenomyeloneuropathy, leading to symptoms like limb weakness and spasticity, with management focusing on rehabilitation and spasticity treatment.
17 citations
,
July 2018 in “Environmental and Experimental Botany” Silencing NtNCED3-2 gene in tobacco reduces drought tolerance and impairs growth.
February 2009 in “Journal of Investigative Dermatology” EGFR is essential for organized skin nerve growth and branching.
125 citations
,
August 2003 in “Development” Mice with human-like EGFR had growth issues, skin defects, heart problems, and unusual bone development.
33 citations
,
August 2000 in “Experimental Cell Research”
May 2024 in “Animal genetics” A cat's poor wound healing was linked to a genetic deletion in the COL5A1 gene.
February 2025 in “Journal of the European Academy of Dermatology and Venereology” Erosive pustular dermatosis of the scalp can occur about 17 weeks after starting EGFR inhibitors, and early minocycline may help manage it.
1 citations
,
March 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” NAC1 controls certain enzymes that reduce root hair growth in Arabidopsis.
4 citations
,
November 2020 in “Acta Dermato Venereologica” Tofacitinib effectively improved severe skin symptoms in a patient with Hypohidrotic Ectodermal Dysplasia.
14 citations
,
August 2014 in “The FASEB Journal” CAP1/Prss8 does not activate PAR2 or inhibit PN-1.
21 citations
,
January 1999 in “Molecular and Cellular Biochemistry” Niacin deficiency makes rats more sensitive to cancer-causing chemicals.
69 citations
,
January 2013 in “Frontiers in Immunology” The FOXN1 gene is crucial for developing immune cells and preventing immune disorders.
MITF and WNT3A are key in Dun Mongolian horse pigmentation.
January 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” Certain genetic variants in ERN1, TACR3, and SPPL2C are linked to when Alzheimer's disease starts.
5 citations
,
June 2008 in “British Journal of Dermatology” November 2025 in “Journal of Investigative Dermatology” TEDAR is crucial for skin cell differentiation and barrier formation.
32 citations
,
January 2017 in “Orphanet journal of rare diseases” FOXN1 gene mutations cause a rare, severe immune disease treatable with cell or tissue transplants.
3 citations
,
March 2017 in “Pediatric Dermatology” FOXN1 duplication can cause excessive hair growth.
58 citations
,
November 2004 in “The journal of investigative dermatology/Journal of investigative dermatology” The Foxn1 gene is essential for normal nail and hair development.
mEphA1 receptor tyrosine kinase is important for skin and hair development and may play a role in certain diseases.
29 citations
,
September 2018 in “Journal of the American Heart Association” EP 2 receptor is essential for heart repair by helping macrophages work properly.
January 2021 in “Electronic Theses of LMU Munich (Ludwig-Maximilians-Universität München)” N-Cadherin is crucial in scar formation, offering potential for scar prevention therapies.