89 citations,
September 2010 in “Annual Review of Genomics and Human Genetics” The document concludes that understanding the genes and pathways involved in hair growth is crucial for developing treatments for hair diseases.
81 citations,
July 2008 in “The Journal of Clinical Endocrinology and Metabolism” Certain mutations in the H6PD gene cause Cortisone Reductase Deficiency by affecting hormone production.
74 citations,
October 1998 in “Journal of biological chemistry/The Journal of biological chemistry” The 190-kbp domain contains all human type I hair keratin genes, showing their organization and evolution.
53 citations,
June 2012 in “Annales d'Endocrinologie” The document concludes that recognizing and properly diagnosing lipodystrophy syndromes is crucial for effective management and treatment.
50 citations,
September 2016 in “The Journal of Clinical Endocrinology and Metabolism” Finasteride for hair loss may cause persistent sexual symptoms, depression, anxiety, and lower quality of life.
48 citations,
January 2011 in “Hormone Research in Paediatrics” The conclusion is that genetic changes in the glucocorticoid receptor can lead to conditions affecting stress response, immunity, and metabolism, requiring personalized treatment.
48 citations,
July 1996 in “Human & Experimental Toxicology” Human enzymes can detoxify harmful substances but might also increase their cancer risk.
47 citations,
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,
September 2011 in “Movement Disorders” Finasteride reduces Tourette syndrome symptoms, but results may be limited due to potential biases.
39 citations,
May 2011 in “Movement Disorders” Finasteride may help reduce symptoms in male Tourette syndrome patients.
37 citations,
June 2002 in “The Laryngoscope” Ectodermal dysplasia causes various symptoms and early treatment is important for eye, dental, and skin issues.
35 citations,
April 2014 in “American Journal of Medical Genetics” Boys with less severe EDA mutations in XLHED have milder symptoms and better sweat and hair production.
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.
26 citations,
December 2011 in “Journal of Investigative Dermatology” New gene identification techniques have improved the understanding and classification of inherited hair disorders.
26 citations,
April 2019 in “Genes” lncRNA XLOC_008679 and gene KRT35 affect cashmere fineness in goats.
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.
24 citations,
October 2014 in “Cold Spring Harbor Perspectives in Medicine” Genetic research has advanced our understanding of skin diseases, but complex conditions require an integrative approach for deeper insight.
23 citations,
December 2013 in “British Journal of Dermatology” A new gene mutation linked to a skin condition was found in a Spanish family.
18 citations,
January 2020 in “Acta dermato-venereologica” Over 67 genes linked to ichthyosis help improve diagnosis and treatment.
17 citations,
August 2018 in “BMC Genomics” The HOXC13 gene affects different hair proteins in cashmere goats in varied ways and is controlled by a feedback loop and other factors.
17 citations,
May 2011 in “Movement Disorders” Finasteride significantly reduced tics and obsessive-compulsive symptoms in patients with Tourette syndrome.
16 citations,
July 2012 in “Current pharmaceutical biotechnology” New treatments for skin conditions related to the sebaceous gland are being developed based on current research.
14 citations,
January 2013 in “Hormone and Metabolic Research” The severity of symptoms in nonclassical congenital adrenal hyperplasia is not determined by CYP21A2 gene variations.
13 citations,
September 2018 in “Scientific Reports” The research found that a complex gene network, controlled by microRNAs, is important for hair growth in cashmere goats.
12 citations,
February 2008 in “Journal of The American Academy of Dermatology” Combining skin tissue pathology with genetics has greatly improved the diagnosis and understanding of certain skin diseases.
9 citations,
March 2015 in “International reviews of immunology” Skin abnormalities can indicate immunodeficiency due to shared origins with the immune system.
9 citations,
February 2013 in “Hormone and Metabolic Research” Mutations in the CYP21A2 gene are not a major factor in causing PCOS.
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,
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,
May 2010 in “Journal of Cutaneous Pathology” A new genetic area linked to a rare hair loss condition was found on chromosome 13 in a Chinese family.