112 citations,
August 2012 in “The American Journal of Human Genetics” Mutations in the RBPJ gene cause Adams-Oliver Syndrome.
[object Object] 54 citations,
November 2015 in “Methods in enzymology on CD-ROM/Methods in enzymology” Keratins are important for skin cell health and their problems can cause diseases.
38 citations,
June 2018 in “Plant & cell physiology/Plant and cell physiology” Changing the amount of PLC5 in Arabidopsis affects root growth and drought resistance, with less PLC5 slowing root growth and more PLC5 improving drought tolerance but hindering root hair growth.
32 citations,
May 2012 in “PloS one” Thymic transplantation normalized some T-cells but not others, maintaining immune function.
25 citations,
August 2006 in “Human Reproduction” Oral contraceptives lower testosterone levels in women, especially those with certain genetic traits, and may be linked to increased breast cancer risk.
22 citations,
March 2017 in “Scientific reports” Double-stranded RNA causes inflammation in hair follicle cells, which may help understand and treat alopecia areata.
20 citations,
May 2016 in “Journal of Cosmetic Dermatology” Low vitamin D receptor levels found in hair loss patients; topical vitamin D treatment suggested.
[object Object] 10 citations,
November 2008 in “Veterinary Dermatology” The mouse hairy ears mutation causes longer ear hair due to changes in gene expression.
4 citations,
July 2022 in “Scientific reports” Crossbreeding improves goat fiber quality, and specific genes affect hair traits and color.
4 citations,
December 2020 in “Mammalian genome” Harlequin mutant mice have hair loss due to low AIF protein levels and retroviral element activity.
4 citations,
November 2020 in “BMC Dermatology” Researchers identified genes in scalp hair follicles that may affect hair traits and hair loss.
3 citations,
January 2019 in “Jikken doubutsu ihou/Jikken doubutsu/Experimental animals/Jikken Dobutsu” Pigs without the Hairless gene showed skin and thymus changes, useful for studying human hair disorders.
2 citations,
January 2002 in “Hormone Research in Paediatrics” Molecular diagnostics help identify genetic defects causing endocrine diseases, improving diagnosis and treatment options.
September 2023 in “Frontiers in cell and developmental biology” Vav2 changes how hair follicle stem cells' genes work as they age, which might improve regeneration but also raise cancer risk.
78 citations,
November 2005 in “Endocrinology” Hairless protein can block vitamin D activation in skin cells.
10 citations,
January 2013 in “Journal of skin cancer” PKC ε increases hair follicle stem cell turnover and may raise skin cancer risk.
7 citations,
July 2008 in “Experimental Dermatology” The study concluded that a protein important for hair strength is regulated by certain molecular processes and is affected by growth phases.
August 2023 in “Research Square (Research Square)” Personalized thiopurine dosing based on NUDT15 genotyping can improve long-term outcomes for ulcerative colitis and Crohn's disease patients.
January 2015 in “Indian Journal of Medical Biochemistry” Men with early balding should be checked for metabolic syndrome, as there's a link between the two.
5 citations,
May 2018 in “PloS one” Both classical and L-type atypical BSE from cattle can infect goats with different incubation times, and tests can distinguish between the two strains.
June 2017 in “Journal of clinical and investigative dermatology” Red blood cell folate levels are reliable indicators of long-term folate status in alopecia areata patients.
53 citations,
November 2006 in “Journal of Endocrinology” Prolactin slows down hair growth in mice.
17 citations,
April 2007 in “Kidney international” Vitamin D boosts a specific gene activity in kidney cells that could improve heart and kidney function.
8 citations,
March 2014 in “American Journal of Pathology” Damaged hair follicles make mice more prone to skin inflammation and skin cancer after UV exposure.
1 citations,
May 2023 in “Frontiers in endocrinology” A new MBTPS2 gene variant disrupts fat metabolism and collagen production, causing Osteogenesis imperfecta.
Researchers made a mouse model with curly hair and hair loss by editing a gene.
February 2023 in “Research Square (Research Square)” Blocking IL-17 can reduce skin inflammation in a mouse model of pityriasis rubra pilaris.
165 citations,
September 2001 in “Genes & development” CDP is crucial for lung and hair follicle cell development.
100 citations,
March 2006 in “Journal of biological chemistry/The Journal of biological chemistry” Cystatin M/E strongly inhibits cathepsin V and cathepsin L, important for skin formation.
20 citations,
December 2000 in “Fertility and Sterility” The N363S gene variant does not cause higher adrenal androgen levels in women with polycystic ovary syndrome.