50 citations
,
September 2009 in “Molecular Genetics and Metabolism” A new gene mutation causes vitamin D resistance and rickets, treatable with calcium therapy.
April 2018 in “Journal of Investigative Dermatology” STIM1 is essential for sweat secretion.
April 2018 in “Journal of Investigative Dermatology” Desmoglein 3 organization in cell connections changes without calcium, affecting cell adhesion.
45 citations
,
September 2012 in “The Journal of Steroid Biochemistry and Molecular Biology” Vitamin D3 and its receptor help protect skin from UVB-related cancer.
60 citations
,
October 2020 in “Nature Communications” AP-1 and TGFß work together to drive resistance in basal cell carcinoma, suggesting new treatment options.
33 citations
,
October 1996 in “Journal of Investigative Dermatology” July 2002 in “Science Signaling” Modified β-catenin can cause different effects in mouse skin cells, leading to cysts or tumors depending on the cell type.
25 citations
,
December 2018 in “Journal of Investigative Dermatology” TRPV4 slows hair growth by affecting hair follicle cells.
15 citations
,
February 2000 in “Journal of Cutaneous Pathology” The arrector pili muscle attaches to the extracellular matrix using α5β1 integrin and connects muscle cells using α1β1 integrin.
51 citations
,
January 2007 in “The journal of investigative dermatology/Journal of investigative dermatology” Scientists discovered a unique hair protein, KAP24.1, with a special structure, found only in the upper part of hair cuticles.
January 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” Certain genetic variants in ERN1, TACR3, and SPPL2C are linked to when Alzheimer's disease starts.
56 citations
,
January 2014 in “Journal of Investigative Dermatology” Olmsted syndrome can be inherited as an autosomal recessive trait due to a rare TRPV3 gene mutation.
February 1990 in “Pathology, research and practice” PCS rats show significant inner ear damage and zinc deficiency, similar to liver cirrhosis patients.
January 2024 in “Pediatric rheumatology online journal” Early genetic testing and JAK inhibitors can help treat systemic inflammation in SAVI patients.
2 citations
,
August 2002 in “British Journal of Ophthalmology” Tangent screens help detect visual field defects from vigabatrin.
79 citations
,
January 2002 in “Nucleic Acids Research” BMP-2 activates the Dlx3 gene in mouse skin cells, important for hair and skin development.
Deleting the MAD2L1 gene in mice led to rapid tumor growth despite chromosomal instability.
33 citations
,
June 2007 in “Gene Expression Patterns” CTIP2 may help in skin development and maintenance.
June 2023 in “British Journal of Dermatology” Coinheritance of BRCA2 and CYLD genes may lead to new treatment options for certain cancers.
32 citations
,
February 2019 in “eLife” BMP signaling is essential for the development of touch domes.
226 citations
,
May 2004 in “Journal of Biological Chemistry” Collagen XXII is a marker for tissue junctions, aiding in structural integrity and found in muscles, heart, skin, and arthritic joints.
71 citations
,
October 2014 in “The Journal of Steroid Biochemistry and Molecular Biology” Vitamin D receptor helps prevent skin cancer and supports skin health.
63 citations
,
February 2010 in “Journal of Neurophysiology” Microstimulation of certain facial and mouth nerves can evoke specific sensations, while deeper nerves may require multiple stimulations to affect perception.
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.
22 citations
,
September 2003 in “Journal of Investigative Dermatology” New mutations in the EBP gene cause CDPX2, affecting bones, skin, eyes, and hair, with females generally less affected than males.
November 2025 in “Cancer Cell International” Cancer-associated fibroblasts promote tumor growth in skin cancer.
10 citations
,
January 2020 in “Acta Neurobiologiae Experimentalis” Valproic acid and crocin together boost cell growth and may help treat nerve injuries.
August 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” Mouse touch-sensitive nerve cells adjust their connections based on competition with other similar cells.
34 citations
,
August 2012 in “Calcified Tissue International” 5 citations
,
March 2012 in “Journal of Investigative Dermatology” Vitamin D receptor and mediator 1 are crucial for healthy skin and hair growth.