154 citations,
November 2017 in “Development” Fibroblast Growth Factors (FGFs) are important for tissue repair and regeneration, influencing cell behavior and other factors involved in healing, and are crucial in processes like wound healing, bone repair, and hair growth.
151 citations,
June 2010 in “Endocrinology and metabolism clinics of North America” Two rare genetic diseases cause severe rickets in children due to defects in vitamin D metabolism.
142 citations,
March 2019 in “Molecules/Molecules online/Molecules annual” Cannabinoids may help treat various skin conditions.
136 citations,
July 2014 in “Proceedings of the National Academy of Sciences of the United States of America” FGF5 gene mutations cause unusually long eyelashes by affecting hair growth regulation.
131 citations,
September 2017 in “Molecular and Cellular Endocrinology” The document concludes that blocking the internal pathways that create androgens might help treat cancers that depend on sex hormones.
119 citations,
November 2016 in “American journal of human genetics” Mutations in three genes cause Uncombable Hair Syndrome, leading to frizzy hair that can't be combed flat.
112 citations,
August 2012 in “The American Journal of Human Genetics” Mutations in the RBPJ gene cause Adams-Oliver Syndrome.
107 citations,
March 2014 in “BoneKEy Reports” Mutations in the vitamin D receptor cause hereditary vitamin D-resistant rickets, leading to poor bone health and requiring high calcium doses for treatment.
86 citations,
November 2015 in “Journal of Gastroenterology” The NUDT15 R139C variant causes thiopurine-induced leukocytopenia through a different mechanism than previously thought in Japanese patients with inflammatory bowel disease.
78 citations,
November 2005 in “Endocrinology” Hairless protein can block vitamin D activation in skin cells.
77 citations,
September 2017 in “Journal of Investigative Dermatology” TRPV3 in skin cells causes inflammation and cell death.
75 citations,
September 2007 in “Journal of Heredity” FGF5 gene mutations cause long hair in domestic cats.
74 citations,
July 2008 in “Journal of Dermatological Case Reports” Trichoscopy is a quick and easy way to diagnose most genetic hair problems without invasive methods.
55 citations,
November 2010 in “Development” Hair follicles in mutant mice self-organize into ordered patterns within a week.
50 citations,
February 2013 in “Annals of Clinical Biochemistry” Understanding how DHT works is important for diagnosing and treating hormone-related disorders.
50 citations,
February 2013 in “BMC evolutionary biology” Cetaceans lost hair due to changes in the Hr and FGF5 genes.
48 citations,
May 2019 in “Genome Biology” Researchers found that certain RNA circles in the brain are linked to disease risk, but their exact role in disease is still unknown.
46 citations,
May 2013 in “The journal of investigative dermatology/Journal of investigative dermatology” Significant progress was made in understanding PXE, but effective treatments are still needed.
45 citations,
April 2019 in “International Immunology” The study concluded that immune cells attacking hair follicles cause hair loss in alopecia, with genetics and environment also playing a role, and highlighted the potential of certain treatments.
41 citations,
May 2020 in “Frontiers in immunology” Hidradenitis suppurativa might be a type of autoinflammatory skin disease.
36 citations,
October 2021 in “Frontiers in Endocrinology” Insulin resistance and high male hormone levels are major causes of Polycystic Ovary Syndrome.
36 citations,
January 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” The document concludes that understanding genetic mutations in the PI3K-AKT-mTOR pathway can lead to better diagnosis and treatment for certain genetic skin disorders.
35 citations,
August 2009 in “Differentiation” Desmoglein 4 is controlled by specific proteins that affect hair growth.
34 citations,
July 2020 in “American journal of human genetics” Changes in the SREBF1 gene cause a rare genetic skin and hair disorder.
33 citations,
August 2016 in “Indian Journal of Dermatology, Venereology and Leprology” Dutasteride is more effective than finasteride at increasing hair count and reversing hair thinning in men with hair loss, but both have similar side effects.
30 citations,
November 2019 in “Genetics selection evolution” Chinese domestic goats have unique genetic traits due to domestication and geographic isolation.
29 citations,
November 2022 in “Nature Medicine” Genetic variations greatly affect individual metabolism and can impact health and disease risk.
29 citations,
June 2020 in “International Journal of Molecular Sciences” Notch signaling disruptions can cause various skin diseases.
29 citations,
January 2020 in “Frontiers in endocrinology” Fibrodysplasia ossificans progressiva is a rare genetic disorder that causes extra bone growth and symptoms of premature aging.
28 citations,
September 2021 in “EMBO reports” Osthole inhibits the TRPV3 channel by binding to specific sites, potentially aiding drug development for skin diseases and cancers.