12 citations
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December 2013 in “Immunological Investigations” The SNP rs6457452 is linked to a higher risk of alopecia areata in Koreans.
8 citations
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December 2009 in “Journal of The European Academy of Dermatology and Venereology” Researchers found a new mutation in the FERMT1 gene in a Spanish family with Kindler syndrome.
199 citations
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April 2010 in “Nature” A gene called APCDD1, which controls hair growth, is found to be faulty in a type of hair loss called hereditary hypotrichosis simplex.
100 citations
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May 2011 in “Journal of Pediatric and Adolescent Gynecology” The document concludes that proper diagnosis and a multidisciplinary approach are crucial for managing Congenital Adrenal Hyperplasia effectively.
47 citations
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June 2011 in “Movement Disorders” The LRRK2-G2019S mutation in Parkinson's disease has a lifetime penetrance of 25-35%, and finasteride may help reduce symptoms in adult male Tourette syndrome patients.
46 citations
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May 2011 in “Movement Disorders” Finasteride reduces Tourette syndrome symptoms, but results may be limited due to potential biases.
39 citations
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May 2011 in “Movement Disorders” Finasteride may help reduce symptoms in male Tourette syndrome patients.
38 citations
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October 2014 in “Current Opinion in Endocrinology, Diabetes and Obesity” 5-alpha reductase deficiency leads to male sexual development issues and treatments like finasteride help with prostate enlargement and hair loss.
31 citations
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January 2014 in “Journal of endocrinological investigation” Woodhouse-Sakati syndrome often causes sexual development issues, hair loss, learning disabilities, deafness, muscle contractions, limb pain, and diabetes.
31 citations
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June 2011 in “Movement Disorders” The document describes a woman with familial Parkinson's disease due to a genetic mutation, showing severe symptoms and poor response to treatment, and suggests finasteride may help reduce symptoms in Tourette syndrome.
25 citations
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July 2013 in “Journal of Dermatological Science” Six new hair loss factors in men not linked to female hair loss.
25 citations
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January 2000 in “Hormone Research in Paediatrics” Mutations in the androgen receptor gene cause Androgen Insensitivity Syndrome, affecting sexual development.
17 citations
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May 2011 in “Movement Disorders” Finasteride significantly reduced tics and obsessive-compulsive symptoms in patients with Tourette syndrome.
12 citations
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January 2016 in “Endocrinology, diabetes & metabolism case reports” Testosterone therapy improved physical and social health in a male with 49,XXXXY syndrome.
10 citations
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June 2011 in “Movement Disorders” THAP1 gene changes do not affect DYT1 dystonia; finasteride may help reduce tics and OCD in Tourette syndrome.
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January 2019 in “Postepy Dermatologii I Alergologii” Certain gene variations might be linked to severe acne in women but not in men.
5 citations
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May 2011 in “Movement Disorders” Finasteride significantly reduced tics and obsessive-compulsive symptoms in Tourette syndrome patients.
5 citations
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May 2011 in “Movement Disorders” Finasteride may help reduce tic severity in male Tourette syndrome patients.
4 citations
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January 2014 in “Dermatology” A woman with acne and baldness was found to have a rare ovarian condition but successfully had a child through fertility treatment.
4 citations
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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
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January 2002 in “Hormone Research in Paediatrics” Molecular diagnostics help identify genetic defects causing endocrine diseases, improving diagnosis and treatment options.
1 citations
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January 2008 in “touchREVIEWS in Endocrinology” Generalized glucocorticoid resistance causes hormone imbalances and varied symptoms due to gene mutations.
November 2025 in “Journal of Medicine and Health Technology” No link between finger length ratios and color blindness was found.
September 2021 in “Research Square (Research Square)” Not having enough or having too much of the protein Grainyhead-like 3 leads to various developmental problems.
January 2018 in “Stem cell biology and regenerative medicine” The conclusion is that the nuclear lamina and LINC complex in skin cells respond to mechanical signals, affecting gene expression and cell differentiation, which is important for skin health and can impact skin diseases.
October 2010 in “Reproductive Biomedicine Online” A new method can almost perfectly distinguish adenomyosis from similar conditions using blood tests.
January 2002 in “Proceedings of The Japanese Society of Animal Models for Human Diseases” Keratin2-6g is crucial for hair follicle development, with mutations causing cell degeneration and vacuolation.
3 citations
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March 2025 in “Science Advances” A specific DNA duplication in Polish chickens affects feather shape by altering gene expression.
14 citations
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March 2018 in “The American journal of case reports” People with the same genetic mutation for Woodhouse-Sakati syndrome can have different symptoms.
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October 1986 in “The Histochemical Journal”