April 2017 in “Journal of Investigative Dermatology” A boy with Oculodentodigital syndrome had a unique GJA1 gene mutation causing his symptoms.
28 citations
,
January 2015 in “Journal of Cell Science” PINCH-1 is crucial for skin cell adhesion and movement, working with EPLIN and ILK.
21 citations
,
September 2001 in “Graefes Archive for Clinical and Experimental Ophthalmology” Minoxidil may help prevent capsular opacification after cataract surgery.
43 citations
,
May 1999 in “Journal of Biological Chemistry” Agouti protein affects melanocortin receptors through competitive antagonism and receptor down-regulation.
13 citations
,
October 2001 in “British Journal of Ophthalmology” 13 citations
,
September 2012 in “Cell & tissue research/Cell and tissue research” pCLCA2 protein may help maintain skin structure and function.
Pvalb8 is essential for zebrafish hearing and hair cell development, and its mutation causes hearing loss.
1 citations
,
January 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” Weak cell junctions disrupt hair follicle stem cell rest.
25 citations
,
October 2007 in “Developmental biology” Clim proteins are essential for maintaining healthy corneas and hair follicles.
35 citations
,
September 2009 in “Development” Necl2 affects skin cell behavior and slows wound healing.
1 citations
,
January 2021 in “Journal of biological chemistry/The Journal of biological chemistry” FLCN helps control iron levels in cells.
3 citations
,
March 2023 in “Annals of the New York Academy of Sciences” Mutations in claudin-1 and claudin-3 cause hair loss in baby mice.
Mutant Cx43 causes slower wound healing and hair growth issues in ODDD.
April 2018 in “Journal of Investigative Dermatology” Claudin-1 and Claudin-3 are crucial for keeping hair follicle structure and preventing a type of hair loss called telogen effluvium.
August 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” The research found that specific stem cells maintain skin gland openings and that disrupting their activity can cause blockages or early cancer signs, indicating a need for targeted treatments.
November 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” MOF controls skin development by regulating genes for mitochondria and cilia.
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.
15 citations
,
November 2020 in “Development” Stem cells in the eye have different roles and behaviors, helping maintain and repair the eye's surface.
1 citations
,
July 2023 in “Nature communications” MOF controls key genes for skin development by regulating mitochondrial and ciliary functions.
91 citations
,
December 2019 in “The EMBO Journal” NEDD4 and NEDD4L help control intestinal stem cells and prevent tumors by breaking down the LGR5 receptor.
7 citations
,
January 2011 Collagen XVIII is crucial for maintaining tissue structure and function in the brain, kidneys, and hair.
165 citations
,
September 2001 in “Genes & development” CDP is crucial for lung and hair follicle cell development.
January 1998 in “Differentiation” Basonuclin is crucial for hair follicle development and cycling in mice.
13 citations
,
November 1995 in “European Archives of Oto-Rhino-Laryngology”
8 citations
,
May 2017 in “IUBMB life” Astrotactin proteins are important for brain and skin development and are linked to several neurodevelopmental disorders.
January 2025 in “Frontiers in Cell and Developmental Biology” Hox proteins help maintain keratinocyte identity by regulating miRNA expression.
73 citations
,
January 2002 in “Journal of Investigative Dermatology” Epidermal stem cells don't use gap junctions to communicate.
104 citations
,
July 1994 in “The Journal of Cell Biology” Basonuclin helps keratinocytes multiply and prevents them from fully maturing.
27 citations
,
October 1998 in “Differentiation” Basonuclin helps identify and track hair follicle development and cycling in mice.
22 citations
,
April 2012 in “The American journal of pathology” Loss of Msx2 function causes eye development issues similar to Peters anomaly.