19 citations,
August 1999 in “European journal of endocrinology” The study concluded that testing hormone levels after stimulation is not reliable for identifying carriers of 21-hydroxylase deficiency; genetic testing is necessary.
[object Object] 15 citations,
June 2020 in “Experimental Dermatology” Hormones and genes affect hair growth and male baldness.
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.
14 citations,
March 1995 in “Journal of cell science” SV40 T antigen in hair follicles causes abnormal hair and health issues in mice.
11 citations,
March 2019 in “EMBO molecular medicine” A defective protein in progeria causes cell death and atherosclerosis, but a treatment targeting cell stress may reduce these effects.
11 citations,
January 2011 in “Developmental neurobiology” Ptprq has multiple forms that change during inner ear development.
11 citations,
July 2001 in “APMIS. Acta pathologica, microbiologica et immunologica Scandinavica./APMIS” Estrogens are key for bone growth spurts in both boys and girls and affect growth into adulthood.
10 citations,
November 2018 in “Genetics in medicine” Lack of cystatin M/E causes thin hair and dry skin.
9 citations,
May 2021 in “Dermatologic Therapy” Possible link between androgens and COVID-19 severity; more research needed.
9 citations,
December 2002 in “Novartis Foundation Symposium” LEF1 is essential for the development of airway glands and is regulated by the Wnt/ß-catenin pathway.
7 citations,
May 2019 in “European Journal of Human Genetics” BMP4-related anomalies can cause a wide range of eye, brain, and hand/foot problems, and new cases show this variability.
7 citations,
April 2013 in “Journal of Cellular Biochemistry” CD61 is important for mouse tooth cell growth and works through Lgr5.
7 citations,
December 2008 in “Journal of Dermatological Science” Progranulin overexpression leads to shorter, thinner hair and increased cell death in mouse hair follicles.
6 citations,
July 2011 in “British Journal of Dermatology” A man with KID syndrome developed a rare cancer in a long-term skin infection.
4 citations,
August 2013 in “Expert Review of Dermatology” Updated treatments for female hair loss include minoxidil, antiandrogens, hair transplants, and light therapy.
4 citations,
October 1990 in “The Lancet” Minoxidil might cause blood vessel-related skin lesions when applied to the scalp.
3 citations,
September 2019 in “PLOS ONE” Genetic variations affect dutasteride treatment response for male pattern hair loss.
2 citations,
August 2022 in “Emergency medicine international” Keloid skin disorder involves abnormal fibroblast activation and immune response, linked to a group of genes including FGF11.
1 citations,
July 2023 in “Nature communications” MOF controls key genes for skin development by regulating mitochondrial and ciliary functions.
1 citations,
June 2022 in “JCRPE” Metreleptin treatment significantly improved metabolic health in a boy with congenital generalized lipodystrophy.
1 citations,
June 2021 in “bioRxiv (Cold Spring Harbor Laboratory)” Activating β-catenin in mammary cells leads to changes that cause early-stage abnormal growths similar to skin structures.
1 citations,
February 2021 in “Scholars international journal of anatomy and physiology” Different forms of FGF5 either promote or inhibit hair growth.
1 citations,
August 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” A new mutation in the TMEM173 gene and a risk allele in IFIH1 cause a unique set of immune-related symptoms.
1 citations,
January 2015 in “Case reports in endocrinology” Women with nonclassical congenital adrenal hyperplasia may have a higher risk of fertility issues and miscarriages, and should get genetic counseling.
1 citations,
February 2013 in “Clinical pediatrics” The baby’s hair loss was due to a rare genetic condition, not treatable by usual methods.
1 citations,
October 1990 in “The Lancet” Using minoxidil for hair growth may cause skin lesions in some people, and taking breaks from nitrate patches for angina might worsen symptoms.
April 2024 in “Research Square (Research Square)” A 27-year-old with APS-1 showed improvement in symptoms after treatment.
January 2024 in “Theranostics” HDAC6 helps keep ovarian follicles dormant, extending female fertility.
[object Object] June 2023 in “GSC Advanced Research and Reviews” Hutchinson-Gilford Progeria Syndrome causes rapid aging from a genetic mutation, with no cure but ongoing research into potential treatments.
February 2023 in “Research Square (Research Square)” Blocking IL-17 can reduce skin inflammation in a mouse model of pityriasis rubra pilaris.