5 citations,
September 2013 in “The Journal of Dermatology” Researchers found a new mutation in the HR gene causing hair loss and skin bumps in a Pakistani family.
3 citations,
January 2013 in “Dermatology” New genetic mutations causing hair loss were found in a Chinese family.
13 citations,
March 2020 in “Genes” Disrupting the FGF5 gene in rabbits leads to longer hair by extending the hair growth phase.
18 citations,
January 2018 in “BMC dermatology” A new mutation in the PLEC gene causes a rare condition with skin blistering, muscle weakness, and hair loss.
11 citations,
January 2020 in “BMC pediatrics” New mutations in the SLC39A4 gene found in twins help understand the genetic cause of acrodermatitis enteropathica.
4 citations,
December 2013 in “The Journal of Dermatology” A new mutation in the K6b gene caused a girl's late-appearing nail condition.
94 citations,
April 2002 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism” A new gene mutation causes female pseudohermaphroditism due to glucocorticoid resistance.
25 citations,
May 1994 in “Journal of Investigative Dermatology” Researchers found a new gene, hacl-1, that is active in mouse hair follicles during hair growth and may be important for hair biology.
3 citations,
February 2011 in “Journal of Biomedical Research/Journal of biomedical research” A new mutation in the KRT86 gene was found to cause the hair disorder monilethrix in a Han family.
7 citations,
November 2013 in “Pediatric and Developmental Pathology” Over half of the children had abnormal hair under a microscope, with many having genetic hair conditions.
20 citations,
January 2017 in “Genetica” The methylation of the HOXC8 gene's exon 1 affects cashmere fiber length in goats.
6 citations,
January 2011 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” An 11-year-old Greek girl was diagnosed with a rare genetic disorder, highlighting the importance of genetic testing and family history.
12 citations,
July 2004 in “Molecular genetics and genomics” A new mouse mutation causes skin and hair defects due to a gene change.
5 citations,
January 2020 in “Bioscience Reports” Certain changes in the VEGF gene can increase or decrease the risk of polycystic ovary syndrome.
195 citations,
July 2005 in “American Journal of Human Genetics” Genetic variation in the androgen receptor gene mainly causes early-onset hair loss, with maternal inheritance playing a key role.
December 2013 in “Appetite” A defective gene causes hair loss and taste insensitivity in BTBR mice.
1 citations,
September 2019 in “Journal of Investigative Dermatology” The research showed that CRISPR/Cas9 can fix mutations causing a skin disease in stem cells, which then improved skin grafts in mice, but more work on safety and efficiency is needed.
5 citations,
January 2016 in “Genetics and molecular research” Certain genetic variations in the A2M gene are linked to better milk quality in Murrah buffaloes.
81 citations,
July 2008 in “The Journal of Clinical Endocrinology and Metabolism” Certain mutations in the H6PD gene cause Cortisone Reductase Deficiency by affecting hormone production.
December 2023 in “Frontiers in endocrinology” Excess androgens may cause PCOS, not just be a symptom.
144 citations,
March 2013 in “Circulation Research” K_ATP channel gene mutations are linked to heart diseases, but more research is needed to understand the connection and treatment potential.
36 citations,
January 2017 in “Journal of Obstetrics and Gynaecology Research” The review found no clear link between vitamin D receptor gene variations and polycystic ovary syndrome.
33 citations,
April 2011 in “Journal of Veterinary Internal Medicine” Long-term fluticasone treatment does not harm the immune system in horses with heaves.
24 citations,
April 2017 in “Oncology Reports” The hair keratin gene KRT81 is found in both normal and breast cancer cells and helps them invade surrounding tissues.
14 citations,
January 2013 in “Hormone and Metabolic Research” The severity of symptoms in nonclassical congenital adrenal hyperplasia is not determined by CYP21A2 gene variations.
6 citations,
November 2011 in “Journal of Dermatological Science” A new gene mutation may allow some piebaldism patients to regain skin color in white patches.
4 citations,
February 2021 in “Plant journal” OsUEV1B protein is essential for controlling phosphate levels in rice.
58 citations,
June 2018 in “Scientific reports” Researchers found 15 new genetic links to skin traits in Japanese women.
44 citations,
January 2008 in “Fertility and Sterility” Longer CAG repeat lengths in the androgen receptor gene are linked to higher testosterone levels in women with PCOS.
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.