165 citations,
September 2001 in “Genes & development” CDP is crucial for lung and hair follicle cell development.
151 citations,
December 2004 in “Annals of the New York Academy of Sciences” Congenital Adrenal Hyperplasia is a genetic disorder with two forms, causing symptoms like early puberty and severe acne, but can be identified through screening and treated with glucocorticoids.
149 citations,
July 2002 in “Dermatologic clinics” Patients with certain skin symptoms and high ANA titers should be monitored for potential systemic lupus.
95 citations,
July 2010 in “Genes & development” Notch/CSL signaling controls hair follicle differentiation through Wnt5a and FoxN1.
74 citations,
March 2001 in “Seminars in Cutaneous Medicine and Surgery” The document concludes that skin biopsies, genetic and environmental factors, and specific treatments are important in managing cutaneous lupus erythematosus.
40 citations,
February 2005 in “Fertility and Sterility” Some women with PCOS have CYP21 mutations and IRS1 variants, but these genetic factors are not major contributors to PCOS.
39 citations,
January 2019 in “Cells” Gene therapy has potential as a future treatment for Hutchinson-Gilford progeria syndrome.
36 citations,
October 2016 in “Bone” A male with aromatase deficiency improved bone health with estradiol treatment.
28 citations,
May 2020 in “BMC plant biology” The study concluded that three enzymes are important for plant development by affecting sugar composition and calcium binding in plants.
15 citations,
January 2010 in “Reproduction, Fertility and Development” A certain gene variant may increase the risk of polycystic ovary syndrome in Chinese women.
7 citations,
January 2023 in “Frontiers in cell and developmental biology” Celsr1 is crucial for skin cell alignment, while Celsr2 has little effect on this process.
6 citations,
July 2011 in “British Journal of Dermatology” A man with KID syndrome developed a rare cancer in a long-term skin infection.
3 citations,
February 2017 in “Archives of Medical Science” Finasteride treatment changes Cx43 in rat testes, possibly causing fertility issues.
1 citations,
June 2022 in “Curēus” Early detection and multidisciplinary treatment are crucial for managing Papillon-Lefévre syndrome.
1 citations,
September 2016 in “Journal of Dermatological Science” FGF18 treatment during hair's resting phase can protect against hair loss from radiation.
1 citations,
August 2012 in “Journal der Deutschen Dermatologischen Gesellschaft” A woman's hyperandrogenism was caused by a genetic mutation leading to non-classic adrenogenital syndrome.
September 2023 in “Curēus” A 21-year-old male has a benign skin condition called Becker's nevus, which he chose not to treat.
December 2022 in “Frontiers in plant science” CCDC22 and CCDC93 are essential for root and root hair growth in Arabidopsis.
March 2022 in “Journal of South Asian Association of Pediatric Dentistry” Dentists should start preventive treatments early for children with Ichthyosis Vulgaris to avoid dental problems.
September 2016 in “Journal of Dermatological Science” Wnt-10b is important for keeping mouse skin cells healthy for hair growth.
26 citations,
August 2014 in “Genetic Testing and Molecular Biomarkers” High levels of TNF-α may contribute to obesity and insulin resistance in PCOS, but not due to the C850T genetic variation.
6 citations,
June 2018 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” Patients with the same genetic mutation for vitamin D-resistant rickets showed different symptoms but all improved with treatment except for hair loss.
6 citations,
January 2013 in “The Journal of Dermatology” Researchers found a new genetic mutation causing a rare hair loss condition in the first Japanese child studied.
5 citations,
July 2020 in “JAMA Dermatology” Minoxidil solution applied twice daily improved hair growth in patients with Woolly Hair/Hypotrichosis due to LIPH gene issues, with mild side effects.
May 1991 in “Current problems in dermatology” Skin issues can indicate immune system problems.
28 citations,
October 2004 in “Differentiation” A gene deletion causes the "hairless" trait in Iffa Credo rats.
13 citations,
September 2019 in “Scientific Reports” High levels of the protein Flightless I worsen ulcerative colitis symptoms in mice.
February 2012 in “InTech eBooks” PCOS increases the risk of heart disease and type 2 diabetes in women.
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.
March 2023 in “Pediatrics & neonatology” A baby girl had two brain-related growths removed and is developing normally.