19 citations
,
August 2018 in “JAMA dermatology” Mesenchymal stem cells in people with Hidradenitis Suppurativa are more inflammatory, possibly contributing to the disease.
62 citations
,
March 2017 in “Journal of Investigative Dermatology” Mutations in the ACTB gene cause Becker’s nevi and may lead to muscle issues in Becker’s nevus syndrome.
6 citations
,
August 2022 in “The Italian Journal of Pediatrics/Italian journal of pediatrics” New genetic mutations linked to rare skin disorders were found in three newborns.
68 citations
,
November 2011 in “The American journal of pathology” Abnormal Hedgehog signaling in blood cancers may help tumors grow and resist chemotherapy, suggesting potential for targeted treatments.
28 citations
,
June 1998 in “Clinical Genetics” Ambras syndrome's genetic cause is unknown, as it isn't linked to androgen levels.
62 citations
,
October 2018 in “Journal of pathology” Keratin 17 is linked to various diseases, including cancer and skin conditions, and may be a target for diagnosis and treatment.
42 citations
,
July 2014 in “Journal of biological chemistry/The Journal of biological chemistry” Heparan sulfate is important for hair growth, preventing new hair formation in mature skin, and controlling oil gland development.
70 citations
,
April 2014 in “Annales d'endocrinologie” New genes and pathways are important for testosterone production and male sexual development.
1 citations
,
April 2025 in “BMC Veterinary Research” PSAT1 is key for hair growth and stem cell function in cashmere goats.
2 citations
,
October 2015 in “Human Gene Therapy” The congress highlighted new gene therapy techniques and cell transplantation methods for treating diseases.
26 citations
,
June 2004 in “Clinical Genetics” The keratin 5 mutation in a family with epidermolysis bullosa simplex was due to mosaicism, not a new mutation.
1 citations
,
February 2025 in “Journal of Dairy Science” The SLICK1 allele in Holstein heifers affects hair and immune traits without altering prolactin signaling.
January 2012 in “Journal of Investigative Dermatology” Some Greek melanoma patients have gene mutations linked to increased cancer risk, a new color feature helps diagnose melanoma, the incidence of a skin condition in the Netherlands is rare, and a gene possibly affects male-pattern baldness.
9 citations
,
June 2014 in “Molecular biology reports” KAP9.2 and Hoxc13 genes are important for cashmere growth and vary in activity during different stages.
May 2018 in “The journal of immunology/The Journal of immunology” Mutations in the FOXN1 gene cause severe immune issues but don't affect hair and nails.
April 2010 in “The Journal of Urology” Human prostate cells produce more WISP1/CCN4 when there's not enough oxygen.
25 citations
,
November 2020 in “Proceedings of the National Academy of Sciences” HoxC genes are crucial for normal hair and nail development.
3 citations
,
July 2021 in “Life science alliance” PNKP is essential for keeping adult mouse progenitor cells healthy and growing normally.
11 citations
,
January 2018 in “Acta dermato-venereologica” Researchers found specific genes in the part of hair follicles that could help treat hair disorders.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” Blocking a key energy pathway in human hair follicles can trigger stress responses that stop cell growth.
4 citations
,
December 2022 in “Advanced science” SCD1 is important for hair growth by keeping the connection in skin cells where hair stem cells live stable.
17 citations
,
July 2022 in “BMC Genomics” The FA2H gene improves cashmere fineness by enhancing hair growth in goats.
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
,
July 2011 in “AFRICAN JOURNAL OF BIOTECHNOLOGY” Seven genetic variations in sheep's DSG4 gene are linked and affect wool traits.
January 2011 in “Journal of Human Genetics” A Japanese patient with a rare genetic disorder had a less severe case than others, suggesting other factors may affect symptoms.
5 citations
,
July 2017 in “International journal of endocrinology and metabolism/International journal of endocrinology and metabolism.” Two siblings with a genetic mutation had a form of rickets that doesn't respond to vitamin D.
33 citations
,
February 2012 in “British Journal of Dermatology” Mutations in the p63 gene affect skin adhesion, barrier integrity, and hair growth.
19 citations
,
March 2016 in “Frontiers in Plant Science” Spermidine is essential for plant growth and adaptation to stress.
5 citations
,
February 2022 in “Seminars in cell & developmental biology” Recent findings suggest that genetic factors, immune system issues, and skin cell defects might contribute to the development of hidradenitis suppurativa.
2 citations
,
July 2022 in “Journal of the Endocrine Society” Some women with PCOS have rare genetic variants linked to the condition.