36 citations,
January 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” The document concludes that understanding genetic mutations in the PI3K-AKT-mTOR pathway can lead to better diagnosis and treatment for certain genetic skin disorders.
375 citations,
June 2013 in “Biochimica et biophysica acta. Molecular cell research” Cornification is how skin cells die to form the protective outer layer of skin, hair, and nails.
68 citations,
August 2012 in “Journal of the American Academy of Dermatology” Dermatoscopy is a useful tool for diagnosing hair disorders and can help choose samples for more detailed analysis.
[object Object] 181 citations,
January 2009 in “Nature Genetics” Certain mutations in a hair growth-related gene cause a type of genetic hair loss.
11 citations,
January 2000 in “Journal of Cutaneous Pathology” Short telomeres contribute to aging and cancer, and while telomerase can delay aging, it may also promote cancer.
38 citations,
August 2005 in “Veterinary dermatology” A disease causing skin issues in young adult German short-haired pointers is hereditary, with most affected dogs not responding to treatment.
December 2021 in “Molecular genetics and genomics” Cats with abnormal hair had DSG4 gene changes causing hair problems.
A new mutation in the CYP11B1 gene was found in a woman with mild hyperandrogenemia, a rare cause of non-classic congenital adrenal hyperplasia.
17 citations,
December 2004 in “The Journal of Men's Health & Gender” Male pattern baldness involves hormone-related hair thinning, shorter hair, and inflammation.
6 citations,
February 2016 in “American Journal of Dermatopathology” The boy with woolly hair nevus had thinner hair and abnormal hair follicles, which improved with treatment but worsened when treatment stopped.
7 citations,
July 2011 in “Survey of Ophthalmology” The document concludes that periocular hair disorders have various causes and treatments, and proper evaluation by specialists is important for management and prognosis.
1 citations,
July 2021 in “IntechOpen eBooks” Environmental factors can cause mutations in skin proteins, leading to skin disorders.
July 1997 in “Journal of Cutaneous Medicine and Surgery” Finasteride significantly increases scalp hair and prevents hair loss in young and middle-aged men.
35 citations,
March 2012 in “Experimental and Clinical Endocrinology & Diabetes” The conclusion is that accurately identifying the cause of high androgen levels in women with PCOS is crucial and requires specific tests.
[object Object] 24 citations,
January 2011 in “International Journal of Trichology” Light microscopy is useful for diagnosing different hair disorders.
24 citations,
July 2011 in “PubMed” Thyroid hormones affect skin texture, hair and nail growth, and can cause skin diseases related to thyroid problems.
62 citations,
March 2011 in “European journal of endocrinology” Some parents have a mild form of congenital adrenal hyperplasia without symptoms, and they usually don't need treatment.
January 2023 in “Pesquisa Veterinária Brasileira” A KRT71 mutation in Hereford cattle in Uruguay causes thin, curly hair and scaly skin.
5 citations,
April 2014 in “European Journal of Obstetrics & Gynecology and Reproductive Biology” AMH levels can't reliably tell the difference between LOCAH and all types of PCOS in women with excessive hair growth.
13 citations,
June 2006 in “Pituitary” A woman with acromegaloidism and normal growth hormone levels had a rare X-Tetrasomy, suggesting a need to study X-chromosome genes for their role in growth and facial development.
January 2017 in “IMC Journal of Medical Science” A rare endocrine disorder, APS 1, was diagnosed in a 26-year-old man in Bangladesh.
1 citations,
May 2018 in “The journal of investigative dermatology/Journal of investigative dermatology” The symposium highlighted the importance of understanding disease mechanisms for targeted dermatology treatments.
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.
257 citations,
July 2018 in “Obstetrics & Gynecology” PCOS is a complex disorder in women that can lead to various health risks and requires personalized treatment.
25 citations,
September 2005 in “Journal of the American Academy of Dermatology” Rapp-Hodgkin syndrome, AEC, and EEC are different expressions of the same genetic disorder caused by TP63 gene mutations.
68 citations,
December 2010 in “The journal of investigative dermatology/Journal of investigative dermatology” HOXC13 is essential for hair and nail development by regulating Foxn1.
54 citations,
January 2023 in “Signal Transduction and Targeted Therapy” New therapies are being developed that target integrin pathways to treat various diseases.
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.
7 citations,
January 2016 in “Experimental and Clinical Endocrinology & Diabetes” Simvastatin may help manage symptoms in women with non-classic congenital adrenal hyperplasia by lowering cholesterol and certain hormone levels.
CaBP1 and CaBP2 are necessary for proper hearing and neurotransmission in the ear's inner hair cells.