30 citations,
October 2020 in “Nature Communications” Finasteride irreversibly affects human steroid 5α-reductase 2, providing insight into its catalytic mechanism and disease-related mutations.
277 citations,
July 2002 in “Molecular Endocrinology” Removing part of the vitamin D receptor stops vitamin D from working properly.
CaBP1 and 2 are important for maintaining the activity of calcium channels necessary for hearing in inner ear cells.
7 citations,
October 1985 in “Genetics Research” Beige and leaden pigment genes act within melanocytes, affecting pigment patterns.
7 citations,
December 2013 in “The Journal of Dermatology” A woman's hair turned gray and fell out after starting a cancer drug called imatinib mesylate.
Hormones, especially testosterone and DHT, are key for penis development and function, and testosterone therapy may help with erectile dysfunction in those with low levels.
4 citations,
December 2020 in “Dermatologic Therapy” Ellis van Creveld syndrome, a rare genetic disorder, can cause unexpected abnormalities in various body organs, requiring thorough patient evaluations.
2 citations,
September 2019 in “Acta Cardiologica” Women with non-classic congenital adrenal hyperplasia have higher risk for heart and metabolic problems.
August 2023 in “Dermatology reports” A baby with maple syrup urine disease improved from skin problems by adjusting his diet to correct amino acid levels.
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.
January 2022 in “Indian dermatology online journal” A baby with a skin condition improved with treatment but developed a rare form of the condition affecting only his trunk.
January 2023 in “Indian dermatology online journal” A child with ectodermal dysplasia-syndactyly syndrome has a new mutation in the NECTIN4 gene.
Doctors should consider Netherton syndrome in patients with chronic skin and hair issues to avoid misdiagnosis.
1 citations,
October 2022 in “Curēus” Diagnosing simple-virilizing congenital adrenal hyperplasia can be difficult and requires thorough testing and expert advice.
November 2009 in “Medical & surgical dermatology” The document concludes that Borrelia afzelii causes a skin condition in France, a gene is linked to hair loss in Caucasian women, and various genetic mutations affect skin diseases.
54 citations,
January 2023 in “Signal Transduction and Targeted Therapy” New therapies are being developed that target integrin pathways to treat various diseases.
11 citations,
September 2011 in “British Journal of Dermatology” New ABCA12 gene mutations were linked to a skin condition with scaling and hair loss, and a treatment helped with hair loss in a related case.
A new mutation in the CYP11B1 gene was found in a woman with mild hyperandrogenemia, a rare cause of non-classic congenital adrenal hyperplasia.
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.
July 1997 in “Journal of Cutaneous Medicine and Surgery” Finasteride significantly increases scalp hair and prevents hair loss in young and middle-aged men.
188 citations,
June 1998 in “Molecular cell” Researchers created a mouse with the same mutation as humans with trichothiodystrophy, showing similar symptoms and confirming the condition is due to defects in DNA repair and gene activity.
14 citations,
January 2013 in “Indian Journal of Endocrinology and Metabolism” Women with congenital adrenal hyperplasia have lower fertility, but with proper treatment, they can conceive successfully.
October 2018 in “Journal of Clinical Research in Pediatric Endocrinology” Children with classic congenital adrenal hyperplasia have thicker heart fat and more heart and blood vessel risk factors, especially if their condition is not well-controlled.
9 citations,
September 2013 in “Journal of histochemistry and cytochemistry/The journal of histochemistry and cytochemistry” Matriptase is highly active in hair follicles and sebaceous glands, especially during hair growth phases.
August 2018 in “Journal of the American Academy of Dermatology” Patients often experience long-lasting changes to their hair after stem cell transplants.
October 2022 in “Veterinária notícias/Veterinária Notícias” A 5-year-old Akita with a rare skin condition improved significantly after treatment.
14 citations,
September 2018 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” A boy's growth and immune problems were caused by a new mutation in the STAT5B gene.
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.
3 citations,
March 2005 in “Journal of the American Academy of Dermatology” The lotion and shampoo effectively treated scalp seborrheic dermatitis.
51 citations,
October 2019 in “Cells” Baricitinib reduces inflammation and improves cell health in premature aging cells.