April 2016 in “Journal of Investigative Dermatology” Mutations in the TSPEAR gene cause a new form of ectodermal dysplasia affecting hair and tooth development.
34 citations
,
November 2010 in “Development” Activating Notch in adult skin causes T cells and neural crest cells to gather, leading to skin issues.
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.
October 1984 in “Immunology Today” 74 citations
,
September 2003 in “The Journal of Immunology” Activating PKCα in skin causes cell death and inflammation through different pathways.
84 citations
,
October 2014 in “PLoS Genetics” Wnt signaling is essential for forming the skin's spinous layer through a BMP-FGF pathway.
11 citations
,
December 2013 in “Clinical and experimental dermatology” A child with skin and heart issues had rare genetic mutations affecting skin and heart cell cohesion.
June 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” A specific molecular switch, driven by MAPK/ERK signaling, helps spiny mice heal wounds by regenerating skin instead of forming scars.
March 2026 in “Experimental Dermatology” The new model helps understand and develop treatments for genetic skin disorders like AEC.
151 citations
,
August 2011 in “The EMBO Journal” The enzyme PA-PLA1α is important for proper hair follicle development.
42 citations
,
July 2017 in “Molecular therapy” A form of vitamin E promotes hair growth by activating a specific skin pathway.
1 citations
,
March 2023 in “Frontiers in Cardiovascular Medicine” A specific gene variant is linked to heart disease, increased heart muscle, curly hair, and thick skin on palms and soles.
Type II spiral ganglion neurites avoid high concentrations of laminin and fibronectin.
April 2026 in “Development” Hemidesmosomes and Notch signaling help skin cells mature by moving them to the outer layer.
53 citations
,
June 1983 in “Journal of Investigative Dermatology” The enzyme is crucial for skin cell development and can be activated without proteolytic activation.
29 citations
,
June 2020 in “International Journal of Molecular Sciences” Notch signaling disruptions can cause various skin diseases.
60 citations
,
December 1988 in “Journal of Biochemical Toxicology” TCDD reduces EGF receptors in the liver, affecting growth and development.
June 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” Scientists created cell lines to study a genetic skin disorder using CRISPR technology.
24 citations
,
December 2018 in “Inflammation and Regeneration” Phospholipase A2 enzymes play key roles in skin health and disease.
56 citations
,
November 2012 in “Endocrinology” Vitamin D receptor is essential for proper skin healing after injury.
April 2017 in “Journal of Investigative Dermatology” A boy with Oculodentodigital syndrome had a unique GJA1 gene mutation causing his symptoms.
February 2009 in “Journal of Investigative Dermatology” EGFR is essential for organized skin nerve growth and branching.
28 citations
,
February 2012 in “PLoS ONE” A PKP1 gene mutation causes skin fragility and hair loss in Chesapeake Bay retriever puppies.
Correcting EDA fibronectin organization and YAP translocation can improve wound healing in fibrotic conditions.
2 citations
,
April 2012 in “Science-business Exchange” Blocking a protein called prostaglandin D2 might help treat hair loss.
April 2018 in “Journal of Investigative Dermatology” The protein DDX6 helps keep skin cells renewing properly by controlling the production of certain other proteins and breaking down those that cause cells to mature too quickly.
1 citations
,
July 2006 in “Journal of Investigative Dermatology” A 4kb fragment of the desmocollin 3 promoter targets gene expression to specific skin and hair follicle areas.
Sphingosine 1-phosphate affects inflammation and gene expression in different aorta cells.
November 2022 in “Journal of Investigative Dermatology” Scientists found a new type of skin cell that could help with skin repair and these cells work better with a certain protein.
1 citations
,
April 2022 in “Regenerative Therapy” Activating the GDNF-GFRα1-RET signaling pathway could potentially promote skin and limb regeneration in humans and could be used to treat hair loss and promote wound healing.