3 citations
,
December 2000 in “International Journal of Cosmetic Science” The study created a new method to test drugs that affect hormone processing in skin.
93 citations
,
September 2014 in “Diabetes” Lack of 5α-Reductase type 1 can lead to insulin resistance and liver problems.
52 citations
,
November 2003 in “Journal of Investigative Dermatology” Different harmful mutations in the CDH3 gene cause HJMD, but symptoms vary among individuals.
12 citations
,
September 2014 in “Bone” A vitamin D receptor mutation causes rickets and affects immune responses.
140 citations
,
April 2004 in “The journal of investigative dermatology/Journal of investigative dermatology” The enzyme 25 Hydroxyvitamin D 1 α-Hydroxylase is essential for healthy skin and recovery after skin damage.
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.
21 citations
,
January 2006 in “Hormone Research in Paediatrics” A mutation in the VDR gene affects hair cycling without needing ligand binding.
76 citations
,
September 1992 in “Endocrinology” The human type II 5α-reductase gene has a specific structure important for understanding certain medical conditions.
January 2004 in “Pharmaceutical biotechnology” Finasteride effectively inhibits the enzyme steroid 5 alpha-reductase II.
12 citations
,
June 2019 in “Psychoneuroendocrinology” Allopregnanolone is needed for certain brain processing issues caused by D1 dopamine receptor activation.
October 2024 in “Journal of the Endocrine Society” A rare genetic mutation causes resistance to vitamin D, leading to severe rickets and requiring high doses of calcium and vitamin D for treatment.
May 2026 in “ACS Catalysis” Efficient enzyme function relies on specific residue interactions and structural coordination.
8 citations
,
December 2016 in “Hormone Research in Paediatrics” Tunisian children with hereditary vitamin D-resistant rickets showed improvement with calcium treatment, and new genetic mutations were identified.
104 citations
,
May 2003 in “Endocrinology” Lampreys have a functional vitamin D receptor that may help detoxify harmful substances.
4-(Ethoxycarbophenyl) retinamide is much less toxic than other retinoids.
34 citations
,
March 2007 in “Biochemical and Biophysical Research Communications” Thioredoxin reductase 1 does not affect glucocorticoid receptor activity in hair follicle cells.
October 2024 in “Journal of the Endocrine Society” A rare genetic mutation causes resistance to vitamin D, leading to severe rickets and requires high doses of calcium and vitamin D for management.
47 citations
,
February 1998 in “Journal of bone and mineral research” A specific gene mutation causes vitamin D-resistant rickets and hair loss.
24 citations
,
July 1994 in “Journal of Investigative Dermatology” August 2024 in “Latin American Journal of Development” 5α-reductase enzymes are crucial in certain disorders, and while treatment advances exist, more research on SRD5A3 is needed.
43 citations
,
August 2010 in “Expert Opinion on Investigational Drugs” Inhibitors of 11β-HSD1 show potential for treating type 2 diabetes but require more testing for safety and effectiveness.
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.
5 citations
,
February 2018 in “Military medicine” A U.S. Naval fighter pilot suffered permanent vision loss in one eye due to recurrent central serous retinopathy.
70 citations
,
March 2010 in “The Journal of Steroid Biochemistry and Molecular Biology” Blocking a specific enzyme might help treat obesity and diabetes, but more research is needed to ensure it's safe.
June 2015 in “OhioLink ETD Center (Ohio Library and Information Network)” UVB exposure affects retinoid metabolism, which is important for skin cancer progression and treatment.
36 citations
,
January 2010 in “Journal of Pediatric Endocrinology and Metabolism” A new gene mutation causes vitamin D resistance and hair loss in two unrelated girls.
5 citations
,
September 2021 in “Journal of Medical Biochemistry” wAMD patients have higher oxidative stress, suggesting antioxidant treatment may help.
3 citations
,
December 2020 in “Skin Appendage Disorders” Genetic testing confirmed a rare disorder causing hair loss and vision problems in a Saudi family, stressing its importance for diagnosis and counseling.
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.
4 citations
,
July 2020 in “Research Square (Research Square)” The research helps understand how finasteride works and aids drug development.