November 2022 in “Orphanet Journal of Rare Diseases” Long-term use of androgens can help manage Hereditary Angioedema (HAE) but may cause serious side effects, so alternative treatments with fewer side effects are being considered.
29 citations,
June 2015 in “Kidney International” Disrupting the Flcn gene in mice causes early kidney cysts and tumors, which can be treated with rapamycin.
5 citations,
January 2014 in “Indian Journal of Nephrology” A woman with lupus had muscle weakness due to kidney issues and was successfully treated with medication.
1 citations,
January 2016 in “Australasian Journal of Dermatology” A rare genetic mutation caused unusual skin symptoms in a man with Blau syndrome.
March 2024 in “Journal of cosmetic dermatology” Isotretinoin can effectively reduce symptoms of frontal fibrosing alopecia.
December 2023 in “Clinical Cosmetic and Investigational Dermatology” An 8-year-old Saudi boy was diagnosed with a rare genetic disorder causing hair loss, skin issues, and light sensitivity.
April 2023 in “Journal of Investigative Dermatology” Protein analysis shows aging changes in scalp cell types from women.
November 2022 in “Journal of Investigative Dermatology” Skin aging and cancer development are influenced by the competition between stem cells.
November 2022 in “Journal of Investigative Dermatology” Low oxygen levels affect the behavior of certain proteins in human skin cells.
November 2022 in “Journal of Investigative Dermatology” Human-induced stem cell-created skin models can help understand skin diseases by studying the skin's layers.
July 2005 in “Indian Journal of Dermatology” 112 citations,
August 2012 in “The American Journal of Human Genetics” Mutations in the RBPJ gene cause Adams-Oliver Syndrome.
105 citations,
April 2014 in “Trends in Pharmacological Sciences” Targeting the Smoothened receptor shows promise for treating certain cancers.
98 citations,
March 2019 in “Frontiers in immunology” Damaging mutations in NFKB2 cause a severe and distinct form of primary immunodeficiency with early-onset and often ACTH-deficiency.
49 citations,
January 2006 in “Developmental Dynamics” Noggin gene inactivation causes skeletal defects in mice, varying by genetic background.
48 citations,
January 2015 in “Indian Journal of Dermatology, Venereology and Leprology” Vitamin D is important for skin health and can help treat psoriasis, atopic dermatitis, and vitiligo.
39 citations,
October 2012 in “Familial cancer” New therapies for Birt–Hogg–Dubé syndrome are being developed based on understanding the FLCN gene's role.
37 citations,
April 2018 in “Journal of Allergy and Clinical Immunology” A mutation in the IKZF1 gene causes immune system overactivity, linked to autoimmune diseases like lupus.
26 citations,
January 2018 in “Annals of dermatology/Annals of Dermatology” Hair graying may be caused by stem cell depletion from stress or melanocyte damage.
20 citations,
November 2014 in “JAMA dermatology” The 810-nm diode laser improves skin texture in keratosis pilaris but not redness.
16 citations,
January 2018 in “International journal of trichology” Genetics and nutritional deficiencies are key factors in premature graying of hair.
11 citations,
January 2010 in “Springer eBooks” 8 citations,
June 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” A boy's skin fragility and sparse hair were caused by a genetic mutation affecting skin cell adhesion.
5 citations,
September 2012 in “BMJ case reports” Ashwagandha may improve hormone levels and reduce hair loss in non-classical adrenal hyperplasia.
3 citations,
May 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Skin lesions in Carney Complex are caused by a gene change in some skin cells that leads to increased pigmentation and may lead to tumors.
2 citations,
May 2023 in “JAAD Case Reports” The document concludes that early and accurate diagnosis of hair loss on the top of the scalp in Black men is important to distinguish CCCA from other types of hair loss.
1 citations,
March 2023 in “Frontiers in Cardiovascular Medicine” A specific gene variant is linked to heart disease, increased heart muscle, curly hair, and thick skin on palms and soles.
January 2024 in “Biomedicines” The review shows that skin symptoms like chronic fungal infections, hair loss, and skin depigmentation are key for early detection and management of APECED.
September 2023 in “International journal of women’s dermatology” Certain hairstyles, diabetes, scalp infections, and vitamin D deficiency may increase the risk of hair loss in Black women; more research is needed for better treatment.
Researchers made a mouse model with curly hair and hair loss by editing a gene.