47 citations,
March 2016 in “Journal of dermatology” Understanding the genetics of rare inherited ichthyosis syndromes is key for better treatments and genetic counseling.
47 citations,
February 2015 in “European Journal of Clinical Investigation” The review suggests thorough evaluation and genetic testing for proper diagnosis and treatment of Chrousos syndrome.
46 citations,
September 2011 in “Movement Disorders” Finasteride reduces Tourette syndrome symptoms, but results may be limited due to potential biases.
43 citations,
March 2011 in “Journal of psychosomatic research” Kids with alopecia areata may experience more stress but not necessarily feel more anxious or depressed than others.
42 citations,
April 2013 in “Steroids” Non-classic congenital adrenal hyperplasia is a common disorder causing symptoms like acne and infertility, and it's managed based on symptoms, not just test results. Treatment can improve fertility and reduce miscarriage risk.
42 citations,
May 2013 in “Oral Diseases” Kennedy's disease leads to muscle weakness without a cure, but exercise and managing symptoms may help patients live a normal lifespan.
41 citations,
June 2010 in “Journal of Investigative Dermatology” New cells are added to the hair's dermal papilla during the active growth phase.
39 citations,
January 2019 in “Cells” Gene therapy has potential as a future treatment for Hutchinson-Gilford progeria syndrome.
39 citations,
May 2011 in “Movement Disorders” Finasteride may help reduce symptoms in male Tourette syndrome patients.
35 citations,
January 2014 in “Postepy Dermatologii I Alergologii” DHT's role in hair loss is important, but measuring its level for diagnosis is questionable.
34 citations,
August 2002 in “British Journal of Dermatology” ALA-PDT is effective and safe for chronic X-ray dermatitis, providing complete or partial remission.
32 citations,
January 2017 in “Orphanet journal of rare diseases” FOXN1 gene mutations cause a rare, severe immune disease treatable with cell or tissue transplants.
31 citations,
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.
30 citations,
April 2017 in “European Journal of Cell Biology” CIP/KIP proteins help stop cell division and support hair growth.
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.
30 citations,
April 2010 in “Cell Cycle” The gene p53 is crucial for removing damaged cells to allow for healthy tissue renewal.
29 citations,
December 2012 in “Current Opinion in Endocrinology, Diabetes and Obesity” With careful management, people with congenital adrenal hyperplasia can have successful pregnancies and become parents.
28 citations,
November 2019 in “Gene” The ITGB6 gene is important for tissue repair and hair growth, and mutations can lead to enamel defects and other health issues.
28 citations,
August 2001 in “Journal of cutaneous medicine and surgery” People with Down's syndrome often have more skin problems due to a weak immune system.
26 citations,
November 2010 in “Experimental Dermatology” Two gene areas linked to male pattern baldness found, more research needed.
26 citations,
June 2005 in “Journal of Molecular Endocrinology” Dutasteride is more efficient than finasteride, but individual results vary.
25 citations,
August 2014 in “Endocrinology” Researchers created a mouse model of a type of rickets that does not cause hair loss.
23 citations,
August 2018 in “Biochimica and biophysica acta. Molecular and cell biology of lipids” Different sPLA2 enzymes affect immunity, skin and hair health, reproduction, and may be potential targets for therapy.
23 citations,
January 2007 in “Archives of Andrology” Finasteride may negatively affect male fertility.
23 citations,
December 2004 in “Differentiation” Sex hormones affect hair and feather growth and may help manage alopecia and hormone-dependent cancers.
22 citations,
October 2019 in “Cerebral cortex” Sex neurosteroids cause different effects on hippocampal synaptic plasticity in males and females.
22 citations,
October 2018 in “Aesthetic Plastic Surgery” Understanding hair follicle biology and stem cell control could lead to new hair loss treatments.
22 citations,
June 2004 in “Journal of The European Academy of Dermatology and Venereology” A woman had both Graham Little-Piccardi-Lassueur syndrome, causing hair loss, and complete androgen insensitivity syndrome, making her genetically male but physically female. This suggests androgens don't affect the hair loss condition.
22 citations,
January 2008 in “Physiological Research” Steroid sulfatase is important for activating hormones that affect memory, brain function, and certain diseases, and could be a target for treating hormone-related disorders.
21 citations,
October 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” A specific gene change plus an additional mutation in the same gene cause hereditary trichilemmal cysts.