45 citations
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August 2010 in “Hormone Molecular Biology and Clinical Investigation” Type 3 5α-reductase is more common and finasteride and dutasteride strongly inhibit it.
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.
5 citations
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June 2020 in “Medicine” A patient with a rare disease had a unique genetic mutation linked to their symptoms.
6 citations
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January 2020 in “BMC Medical Genetics” A new mutation in the STS gene causes X-linked ichthyosis, even in rare female cases.
A new syndrome, Teelwani Syndrome, combines features of two rare genetic disorders.
42 citations
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October 2009 in “The journal of investigative dermatology/Journal of investigative dermatology” Mutations in the KRT85 gene cause hair and nail problems.
1 citations
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August 2019 in “Journal of Investigative Dermatology” PRDX5 enzyme may contribute to alopecia areata by affecting oxidative stress and autoimmunity.
A rare genetic mutation causes Woodhouse-Sakati syndrome symptoms.
5 citations
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September 2013 in “The Journal of Dermatology” Researchers found a new mutation in the HR gene causing hair loss and skin bumps in a Pakistani family.
SLC24A5 shows a clear selective sweep, but no link to UV radiation intensity.
21 citations
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April 2014 in “PLoS ONE” A rare gene variant causes hair and nail issues in a family.
4 citations
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October 2021 in “Journal of Clinical Medicine” Carriers of a specific gene mutation have subtle skin changes without visible symptoms.
January 2025 in “JCEM Case Reports” Diagnosing and managing Glucocorticoid Resistance Syndrome is complex due to genetic differences and varied symptoms.
43 citations
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April 2010 in “Clinical genetics” Truncating mutations in the C2orf37 gene cause Woodhouse–Sakati syndrome.
81 citations
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July 2008 in “The Journal of Clinical Endocrinology and Metabolism” Certain mutations in the H6PD gene cause Cortisone Reductase Deficiency by affecting hormone production.
June 2024 in “British Journal of Dermatology” KRT14 gene variants cause dermatopathia pigmentosa reticularis, affecting nails, teeth, and hair.
3 citations
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March 2019 in “European Journal of Dermatology” A specific gene mutation (Y449H in K10) was found in a patient with severe skin disorder.
372 citations
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December 2004 in “Nature Genetics” October 2024 in “Journal of the Endocrine Society” A rare genetic mutation causes resistance to vitamin D, leading to severe rickets and requires high doses of calcium and vitamin D for management.
46 citations
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August 2006 in “PubMed” A genetic defect causes males in some Mediterranean populations to be born with ambiguous genitalia and develop male traits at puberty.
6 citations
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June 2012 in “PloS one” A new mRNA variant of the SCF gene in sheep skin produces a shorter, different protein.
93 citations
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February 2009 in “Annals of the New York Academy of Sciences” 5α‐reductase isozymes are crucial for prostate development and health, and targeting them can help prevent and treat prostate issues.
87 citations
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March 2011 in “Australasian Journal of Dermatology” Genetics and hormones play a role in male and female hair loss, but more research is needed to fully understand it.
68 citations
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April 2002 in “Journal of Alternative and Complementary Medicine” Natural 5AR inhibitors effectively improve mild to moderate hair loss in men.
65 citations
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April 2002 in “Journal of Alternative and Complementary Medicine” Plant extracts effectively reduce hair loss and increase growth, offering a safe alternative treatment.
56 citations
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January 2015 in “Circulation” Finasteride helps reduce heart issues and improves heart function.
50 citations
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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.
35 citations
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May 2022 in “Baillière's best practice and research in clinical endocrinology and metabolism/Baillière's best practice & research. Clinical endocrinology & metabolism” Androgens like testosterone are important hormones for both men and women, made differently in each sex and affecting the body by regulating genes and quick interactions with cell components.
29 citations
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July 2009 in “BJU international” Blocking DHT production more strongly may help control advanced prostate cancer and improve quality of life.
28 citations
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January 2003 in “Urologic oncology” Suppressing certain hormones might help prevent prostate cancer.