7 citations,
March 2022 in “Scientific reports” Removing anthrax toxin receptor 1 in pigs prevents Senecavirus A infection and causes a rare disease similar to GAPO syndrome.
7 citations,
July 2019 in “Clinics in Dermatology” Hair loss can indicate or worsen with systemic diseases, and treating the underlying condition is important.
7 citations,
May 2019 in “European Journal of Human Genetics” BMP4-related anomalies can cause a wide range of eye, brain, and hand/foot problems, and new cases show this variability.
7 citations,
May 2019 in “Journal of the Formosan Medical Association” HSD3B1 gene variant and being overweight linked to hair loss in women with polycystic ovary syndrome.
7 citations,
January 2015 in “Case reports in genetics” Using SNP array testing helped quickly find the gene causing Woodhouse-Sakati syndrome in two related individuals.
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.
7 citations,
June 2011 in “Movement Disorders” A specific gene mutation is linked to a hereditary form of dystonia that responds well to certain medications.
7 citations,
December 2008 in “Expert Review of Dermatology” The document concludes that various childhood hair and nail disorders exist, some may improve on their own, and advances in genetics and immunology could enhance treatment and counseling.
6 citations,
June 2021 in “Developmental biology” Dermal EZH2 controls skin cell development and hair growth in mice.
6 citations,
August 2020 in “JCRPE” A boy with a rare form of early puberty caused by a new gene mutation responded well to treatment aimed at reducing testosterone and preserving adult height.
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,
April 2018 in “Obstetrics, gynaecology and reproductive medicine” Most women with hirsutism have it because of PCOS, and they need long-term treatment including medication and hair removal to improve their condition.
6 citations,
November 2017 in “Scientific reports” The R343H mutation in the VDR gene causes vitamin D-resistant rickets with alopecia by impairing specific gene activity.
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.
6 citations,
September 2015 in “Journal of Investigative Dermatology” Using special RNA to target a mutant gene fixed hair problems in mice.
6 citations,
August 2014 in “Toxicologic pathology” Blocking DGAT1 reduces oil gland size in mice and dogs, but only mice experience hair loss.
6 citations,
April 2013 in “Journal of Investigative Dermatology” Spironolactone might lower the chance of getting rosacea.
6 citations,
January 2013 in “Genetics and Molecular Research” Women with hair loss have more androgen receptors in certain hair follicles.
6 citations,
October 2012 in “Journal of Heredity” The Itpr3 gene causes a specific hair pattern in mice.
6 citations,
November 2011 in “Journal of Dermatological Science” A new gene mutation may allow some piebaldism patients to regain skin color in white patches.
6 citations,
August 2007 in “Journal of Surgical Research” Mice genetically modified to produce more Del1 protein had faster hair regrowth.
5 citations,
January 2022 in “PloS one” Deleting the p63 gene in certain cells causes problems in thymus development and severe hair loss in mice.
5 citations,
February 2019 in “bioRxiv (Cold Spring Harbor Laboratory)” Rapamycin may help treat Leigh syndrome by targeting protein kinase C.
5 citations,
January 2018 in “Springer eBooks” Acne in dark skin is influenced by environmental factors and can lead to hyperpigmentation, with various treatment options available.
5 citations,
January 2017 in “Endocrinology” Genetic defects in testosterone production can cause hormonal and developmental disorders, and more research is needed to understand androgen regulation and develop safer treatments.
5 citations,
May 2011 in “Movement Disorders” Finasteride significantly reduced tics and obsessive-compulsive symptoms in Tourette syndrome patients.
5 citations,
May 2011 in “Movement Disorders” Finasteride may help reduce tic severity in male Tourette syndrome patients.
5 citations,
March 2005 in “Journal of The American Academy of Dermatology” 5 citations,
September 2002 in “Archives of Dermatology” Dermatologists diagnose and manage melanoma more effectively than general practitioners.
4 citations,
February 2021 in “Plant journal” OsUEV1B protein is essential for controlling phosphate levels in rice.