February 2026 in “Orphanet Journal of Rare Diseases” Most genetic mutations causing hypohidrotic ectodermal dysplasia in Russian patients are found in the EDA gene.
4 citations
,
April 2019 in “Gynecological Endocrinology” Certain gene variations are found in people with polycystic ovary syndrome.
142 citations
,
August 2015 in “Arthritis & Rheumatology” Systemic sclerosis skin shows varied gene patterns, suggesting potential for personalized treatment.
6 citations
,
July 2024 in “Heliyon” Steroid 5α-reductase evolved from protists and diversified in eukaryotes, with specific roles in mammals and plants.
303 citations
,
October 2000 in “Nature” RXRα is crucial for hair growth and skin cell function.
11 citations
,
July 2010 in “European Journal of Dermatology” The condition is linked to chromosome 12, but no mutations were found in the known genes.
January 2012 in “Zhongguo shouyi xuebao” Sheep breeds show different keratin gene expression in the groin, linked to hair follicle density.
2 citations
,
January 2019 in “Annals of Dermatology” Certain gene variations in EGF and EGFR may increase the risk of alopecia areata in Koreans.
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.
4 citations
,
January 2017 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” Two different mutations in the vitamin D receptor gene cause different symptoms and responses to treatment in Lebanese patients with hereditary rickets.
37 citations
,
August 2011 in “Journal of Bone and Mineral Research” A girl had rickets due to a gene mutation affecting vitamin D response.
7 citations
,
June 2016 in “Bone Research” A Chinese family had a child with a specific gene mutation causing vitamin D-resistant rickets, but the child improved with calcium and low-dose calcitriol.
September 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” The reconstructed skin model from hair follicles functions like human skin in processing chemicals and can be used to test ingredient safety.
February 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” Rodent spiny hair traits are due to genetic factors other than the Edar gene.
48 citations
,
January 2003 in “Fertility and Sterility” There's no significant link between the D19S884 marker at the insulin receptor gene and polycystic ovary syndrome.
26 citations
,
April 1996 in “Journal of Investigative Dermatology”
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” Removing UBE2N from skin cells causes inflammation and immune response, which can be lessened with specific inhibitors.
4 citations
,
January 2016 in “International journal of reproduction, contraception, obstetrics and gynecology” A certain genetic variation is linked to a higher risk of polycystic ovarian syndrome.
1 citations
,
January 2019 in “British Poultry Science” VEGF and VEGFR-2 genes influence feather maturity, and specific genetic markers can improve chicken breeding.
7 citations
,
January 2015 in “Case reports in genetics” Using SNP array testing helped quickly find the gene causing Woodhouse-Sakati syndrome in two related individuals.
January 2004 in “Pharmaceutical biotechnology” Finasteride effectively inhibits the enzyme steroid 5 alpha-reductase II.
1 citations
,
July 2023 in “Journal of Animal Science and Biotechnology” The SOSTDC1 gene is crucial for determining sheep wool type.
24 citations
,
September 2005 in “Journal of Cellular Biochemistry” Retinoids increase steroid sulfatase activity in leukemia cells through RARα/RXR and involves certain pathways like phosphoinositide 3-kinase and ERK-MAP kinase.
12 citations
,
July 2004 in “Molecular genetics and genomics” A new mouse mutation causes skin and hair defects due to a gene change.
172 citations
,
March 2019 in “The EMBO Journal” FERONIA and LRX proteins help control cell growth in plants by regulating vacuole expansion.
January 2002 in “Agritrop (Cirad)” The hr gene is linked to hair loss in Valle del Belice sheep.
2 citations
,
November 2004 in “Blood” RXRa is crucial for Th2 immune cell development and may link nutrition to immune health.
40 citations
,
June 2013 in “Scientific Reports” A gene variant in KRT71 causes the curly fur in Selkirk Rex cats.
39 citations
,
April 2018 in “Hormones” No consistent link between genotype and phenotype in 5-α-Reductase type 2 deficiency.
September 2016 in “Journal of Dermatological Science” A specific mutation known for causing cancer is also found to cause a skin condition in a young girl.