30 citations,
June 2012 in “Current Opinion in Endocrinology, Diabetes and Obesity” Nonclassic congenital adrenal hyperplasia is a genetic disorder causing hormone imbalances, affecting fertility and requiring personalized treatment.
20 citations,
December 2000 in “Fertility and Sterility” The N363S gene variant does not cause higher adrenal androgen levels in women with polycystic ovary syndrome.
18 citations,
August 2018 in “The FASEB journal” Rabbits lacking the Hoxc13 gene show similar hair and skin issues to humans with ECTD-9, making them good for research on this condition.
17 citations,
May 2011 in “Movement Disorders” Finasteride significantly reduced tics and obsessive-compulsive symptoms in patients with Tourette syndrome.
16 citations,
March 2013 in “The Journal of Dermatology” Low TRPS1 expression in skin and hair cells is linked to hair problems in Trichorhinophalangeal syndrome.
15 citations,
April 2002 in “British Journal of Dermatology” Hairless gene not strongly linked to baldness.
14 citations,
May 2013 in “American Journal of Physiology-endocrinology and Metabolism” Removing myelin protein zero-like 3 in mice leads to better metabolism and resistance to obesity.
13 citations,
October 2011 in “Clinical and Experimental Dermatology” Laser hair-comb therapy doesn't improve male-pattern hair loss.
10 citations,
July 2020 in “Clinics in Dermatology” Biotin supplements improved skin and hair problems in a girl with biotinidase deficiency.
10 citations,
June 2011 in “Movement Disorders” THAP1 gene changes do not affect DYT1 dystonia; finasteride may help reduce tics and OCD in Tourette syndrome.
8 citations,
April 2015 in “British Journal of Dermatology” White piedra, a rare fungal infection, was diagnosed in two women in a northern climate.
8 citations,
January 2009 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” A specific thyroid hormone resistance mutation may be linked to different types of hair loss.
7 citations,
January 2020 in “Journal of Dermatology” Cantu syndrome, which causes excessive hair growth and skin issues, is due to a mutation in the ABCC9 gene, and understanding this could help develop new treatments for hair diseases.
7 citations,
March 2015 in “British Journal of Dermatology” Applying minoxidil can help improve hair growth in people with hair loss caused by LIPH gene mutations.
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.
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.
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.
4 citations,
May 2011 in “Movement Disorders” A woman's unique dementia was misdiagnosed, a genetic mutation increases Parkinson's risk with age, and finasteride may help with Tourette syndrome.
2 citations,
May 2018 in “Expert opinion on orphan drugs” Newborn screening and gene therapy are expected to improve outcomes for Omenn syndrome patients.
1 citations,
December 2023 in “Curēus” Most children with a common hemochromatosis genotype had elevated iron levels but no severe symptoms.
1 citations,
May 2023 in “Frontiers in endocrinology” A new MBTPS2 gene variant disrupts fat metabolism and collagen production, causing Osteogenesis imperfecta.
December 2023 in “JCEM case reports” A new gene variant causes glucocorticoid resistance in a mother and son.
Researchers found a genetic link for hereditary hair loss but need more analysis to identify the exact gene.
June 2020 in “Annals of the Rheumatic Diseases” Patients with Systemic Sclerosis have much higher levels of GDF-15, which could help predict organ involvement and guide treatment.
April 2020 in “Journal of the Endocrine Society” A patient with untreated congenital adrenal hyperplasia had large benign tumors in her adrenal glands removed, improving her symptoms.
February 2020 in “Biophysical journal” Zebrafish with mutations similar to human Cantú Syndrome have heart cells with altered channel properties, making them a good model to study the condition.
May 2017 in “Journal of Dermatological Science” Benzoyl peroxide and adapalene gels work differently to reduce acne in mice.
April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” Astrotactin2 affects hair follicle orientation and skin cell polarity.
April 2012 in “Journal of evolution of medical and dental sciences” No effective treatment exists to stimulate hair growth in atrichia with papular lesions.