37 citations
,
June 2004 in “Human molecular genetics online/Human molecular genetics” The HCR gene contributes to psoriasis risk.
1 citations
,
December 2018 in “Journal of genetic medicine” A small change in the TRPS1 gene leads to a less severe form of a syndrome affecting hair, nose, and finger development.
93 citations
,
April 2003 in “Proceedings of the National Academy of Sciences of the United States of America” Fatty acid transport protein 4 is essential for skin and hair development.
12 citations
,
August 2022 in “Stem cell reviews and reports” Increasing PBX1 reduces aging and cell death in hair follicle stem cells by boosting SIRT1 and lowering PARP1 activity.
43 citations
,
November 2018 in “Nature Communications” Genetic variations affecting skin structure play a key role in severe acne.
7 citations
,
January 2018 in “Neurodegenerative Diseases” Researchers found a new ABCD1 gene mutation linked to a rare brain and nerve disorder with unusual brain changes.
4 citations
,
November 2024 in “Journal of Advanced Research” Targeting NMMHC IIA may help treat blood-brain barrier damage.
48 citations
,
March 2003 in “International Journal of Cancer” DMBT1 and galectin-3 may help suppress epithelial skin cancer.
July 2025 in “Journal of Investigative Dermatology”
72 citations
,
November 2012 in “PloS one” The protein folliculin, involved in a rare disease, works with another protein to control how cells stick together and their organization, and changes in this interaction can lead to disease symptoms.
1 citations
,
July 2007 in “Journal of Investigative Dermatology” The mutation causes hairless mice due to mislocalized and dysfunctional HR protein.
12 citations
,
September 2024 in “Frontiers in Immunology” Mitochondrial genes help predict breast cancer outcomes and spread.
3 citations
,
February 2022 in “Frontiers in cell and developmental biology” A specific RNA molecule, circCOL1A1, affects the growth and quality of goat hair by interacting with miR-149-5p and influencing cell growth pathways.
January 2026 in “Therapeutics” SCUBE3 is a potential target for cancer and alopecia treatment but is challenging to target due to its varied roles.
178 citations
,
May 2006 in “Developmental Dynamics” Jumonji genes are important for development and their mutations can cause abnormalities, especially in the heart and brain.
April 2013 in “Developmental Cell” Brg1 is crucial for keeping hair follicle stem cells and repairing skin, working with the Sonic Hedgehog pathway to promote hair growth.
41 citations
,
April 2016 in “Journal of experimental botany” RACB in barley is crucial for cell polarity and nucleus positioning, aiding fungal infection.
1 citations
,
May 2023 in “Frontiers in endocrinology” A new MBTPS2 gene variant disrupts fat metabolism and collagen production, causing Osteogenesis imperfecta.
January 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” Researchers found key regions in the mouse hairless gene that control its activity in skin and brain cells, affecting hair follicle function.
103 citations
,
March 2015 in “Nature Communications” A genetic region near the PAX1 gene is linked to a higher risk of scoliosis in females.
36 citations
,
July 2014 in “Neuromuscular Disorders” A patient with a larger than usual genetic mutation had a broader range of symptoms for a muscle disease.
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.
December 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” MCPIP1 in myeloid cells is important for skin cancer development and healthy hair growth.
6 citations
,
January 2020 in “International journal of biological sciences” Removing the ROBO4 gene in mice reduces skin inflammation and hair loss by affecting certain inflammation pathways and gene expression.
133 citations
,
January 2009 in “Nature” Lgr5 and the vitamin D receptor are key in controlling skin inflammation and tumor risk in mice.
3 citations
,
April 2022 in “Research Square (Research Square)” PBX1 reduces aging and cell death in stem cells by boosting SIRT1 and lowering PARP1.
April 2017 in “Journal of Investigative Dermatology” The BMP/Smads pathway and Id2 gene control hair follicle stem cells, affecting their rest and growth phases.
2 citations
,
October 2023 in “Cancer Reports” Mitochondrial features can predict colorectal cancer outcomes and improve immunotherapy.
10 citations
,
October 2016 in “Monoclonal antibodies in immunodiagnosis and immunotherapy” Researchers created specific antibodies that detect a protein important in development and various conditions, and can be used for research and diagnosis.
June 2023 in “Journal of biological chemistry/The Journal of biological chemistry” Sdr16c5 and Sdr16c6 genes regulate a key point in lipid production that affects eye and skin gland function.