54 citations,
December 2007 in “Best Practice & Research Clinical Endocrinology & Metabolism” Targeting glucocorticoid action might help treat type-2 diabetes, but human trials are needed.
28 citations,
October 2004 in “Differentiation” A gene deletion causes the "hairless" trait in Iffa Credo rats.
24 citations,
May 2019 in “PLOS genetics” Mutations in the HEPHL1 gene cause abnormal hair and cognitive issues.
23 citations,
January 2015 in “Journal of The American Academy of Dermatology” People with myotonic dystrophy type 1 have a higher chance of getting skin tumors, including melanoma.
17 citations,
February 2015 in “Cell Death and Disease” Inhibiting AP1 in mice skin causes structural changes and weakens the skin barrier.
2 citations,
December 2020 in “Endocrinology, diabetes & metabolism case reports” A man with hypoparathyroidism had other health issues that led to a diagnosis of a rare autoimmune disorder, APS-1.
31 citations,
May 2021 in “Journal of endocrinological investigation” APS-1 in Italy shows diverse AIRE mutations and various autoimmune issues.
30 citations,
July 2019 in “Endocrinology” Certain HSD3B1 gene types are linked to worse prostate cancer outcomes and affect treatment response and other health conditions.
8 citations,
November 2012 in “Journal of Endocrinological Investigation” Greek women with classic PCOS are more likely to have metabolic syndrome and insulin resistance than those with newer PCOS types.
2 citations,
December 2021 in “Case reports in endocrinology” The girl's condition improved with treatment, showing no new autoimmune diseases and hair regrowth.
September 2016 in “Journal of Dermatological Science” A gene mutation worsens skin irritation in mice due to a lack of certain fats.
60 citations,
August 2008 in “Human molecular genetics online/Human molecular genetics” A position effect on the TRPS1 gene causes excessive hair growth in humans and mice.
14 citations,
March 1995 in “Journal of cell science” SV40 T antigen in hair follicles causes abnormal hair and health issues in mice.
9 citations,
November 2015 in “Gynecological Endocrinology” Different types of PCOS in Chinese Han women show varying levels of male hormone and metabolic issues.
30 citations,
September 2017 in “Clinics in Dermatology” Acanthosis nigricans is a skin condition that may indicate a higher risk for insulin resistance and type 2 diabetes, and more research is needed to understand and treat it.
38 citations,
January 2006 in “Journal of Cellular Biochemistry” Researchers isolated a new type of stem cell from mouse skin that can renew itself and turn into multiple cell types.
4 citations,
November 2022 in “Frontiers in endocrinology” The enzyme 5α-reductase type 1 is important for blood vessel development and fertility in the uterus.
4 citations,
May 2021 in “Biomedicines” Targeting the protein Caveolin-1 might help treat a type of scarring hair loss called Frontal Fibrosing Alopecia.
23 citations,
January 2020 in “Central-European Journal of Immunology/Central European Journal of Immunology” Alopecia areata, a type of hair loss, is likely an autoimmune disease with a genetic link, but its exact cause is still unknown.
April 2018 in “The journal of investigative dermatology/Journal of investigative dermatology” Skin heals with scars because only one type of fibroblast is used, not a mix.
260 citations,
July 2010 in “Cell” Mutations in the SRD5A3 gene cause a new type of glycosylation disorder by blocking the production of a molecule necessary for protein glycosylation.
52 citations,
May 2015 in “PLOS Genetics” miR-22, a type of microRNA, controls hair growth and its overproduction can cause hair loss, while its absence can speed up hair growth.
September 2003 in “Current Paediatrics” The document concludes that accurate diagnosis and understanding the type of hair disorder are crucial for treating hair loss in children.
22 citations,
June 2012 in “PLOS ONE” Cholesterol-related compounds can stop hair growth and cause inflammation in a type of scarring hair loss.
11 citations,
December 2018 in “Bone” Removing a methyl group from the ITGAV gene speeds up bone formation in a specific type of bone disease model.
199 citations,
April 2010 in “Nature” A gene called APCDD1, which controls hair growth, is found to be faulty in a type of hair loss called hereditary hypotrichosis simplex.
9 citations,
February 2004 in “Clinical and Experimental Ophthalmology” The document discusses various eye conditions and their treatments, including a rare eye cancer in a baby, vision loss from a cancer drug, cataracts from a baldness treatment, a rare skin disorder, and a specific type of eye disease diagnosed with a special imaging technique.
September 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” A new mutation in the STING protein causes a disease with lupus-like symptoms and responds well to a specific inhibitor treatment.
April 2023 in “International journal of molecular sciences” People with Collagen VI-related myopathies may often have hair loss and scalp issues.
23 citations,
November 2001 in “Archives of Dermatology” Genetic discoveries are key for understanding, diagnosing, and treating inherited hair and nail disorders.