30 citations,
June 2016 in “Journal of Human Genetics” Researchers found genetic mutations causing hypohidrotic ectodermal dysplasia in 88% of studied patients and identified new mutations and genetic variations affecting the disease.
26 citations,
February 2020 in “Frontiers in genetics” The CORT, FGF5, and CD36 genes are crucial for the cold weather adaptation of Yanbian cattle.
26 citations,
December 2011 in “Journal of Investigative Dermatology” New gene identification techniques have improved the understanding and classification of inherited hair disorders.
25 citations,
July 2019 in “Experimental Dermatology” Cholesterol balance is important for hair health, and problems with it can lead to hair loss conditions.
25 citations,
December 2018 in “Human Molecular Genetics” The document concludes that certain mutations may contribute to the inflammation in hidradenitis suppurativa and suggests that targeting TNFα could be a treatment strategy.
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.
19 citations,
May 2006 in “Clinical and Experimental Dermatology” Researchers found a new mutation causing total hair loss from birth.
18 citations,
January 2020 in “Acta dermato-venereologica” Over 67 genes linked to ichthyosis help improve diagnosis and treatment.
17 citations,
May 2011 in “Movement Disorders” Finasteride significantly reduced tics and obsessive-compulsive symptoms in patients with Tourette syndrome.
15 citations,
February 2015 in “Cell & tissue research/Cell and tissue research” P-cadherin is important for hair growth and health, and its problems can cause hair and skin disorders.
14 citations,
April 2019 in “Genes” Researchers found a genetic region that influences the number of coat layers in dogs.
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.
10 citations,
May 2012 in “PloS one” Low ERCC3 gene activity is linked to non-pigmented hair growth.
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.
9 citations,
February 2022 in “Nature communications” Rare changes in the KRT82 gene are linked to a higher risk of Alopecia Areata.
9 citations,
February 2013 in “Hormone and Metabolic Research” Mutations in the CYP21A2 gene are not a major factor in causing PCOS.
8 citations,
October 2019 in “Immunological investigations” The AIRE gene variant rs2075876 is linked to a higher risk of alopecia areata in males.
7 citations,
October 2020 in “Wiener medizinische Wochenschrift” THA is a rare condition with no significant clinical consequences if thyroid function is normal.
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,
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,
October 2020 in “Endocrine journal” A patient with Werner syndrome showed a range of aging-like symptoms and metabolic issues, underscoring the need for early detection and treatment.
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 2013 in “Journal of Investigative Dermatology” Spironolactone might lower the chance of getting rosacea.
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,
January 2017 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” Two different mutations in the vitamin D receptor gene cause different symptoms and responses to treatment in Lebanese patients with hereditary rickets.
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.
4 citations,
January 2011 in “Annals of Dermatology” Researchers found a new mutation in the HR gene linked to a rare hair loss condition.
4 citations,
March 2009 in “British Journal of Dermatology” The conference highlighted new dermatological treatments and emphasized early intervention and addressing conditions lacking evidence-based treatments.
3 citations,
December 2021 in “Frontiers in endocrinology” A new mutation in the DCAF17 gene was found in a Chinese family, causing Woodhouse-Sakati syndrome and diabetes.