3 citations
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February 2020 in “The journal of gene medicine” A mutation in the HR gene causes a rare form of irreversible hair loss in two Kashmiri families. Whole exome sequencing is effective for finding such mutations.
9 citations
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September 2013 in “Journal of Applied Animal Research” The genetic variation in the KAP13-3 gene may affect cashmere fiber traits in Liaoning goats.
5 citations
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June 2023 in “BMC genomics” A specific gene mutation causes long hair in Angora rabbits.
2 citations
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March 2023 in “Research Square (Research Square)” Forensic DNA phenotyping faces challenges due to inconsistent terminology, limited genetic understanding, and debates over technology and models.
5 citations
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July 2014 in “Acta Crystallographica Section D-biological Crystallography” Mutations in the enzyme don't significantly change how it binds to its specific substances.
A new mutation in the CYP11B1 gene was found in a woman with mild hyperandrogenemia, a rare cause of non-classic congenital adrenal hyperplasia.
66 citations
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December 1999 in “Journal of Investigative Dermatology” New mutations in the hairless gene may cause hair loss and affect bone development.
20 citations
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July 2017 in “Scientific Reports” A single amino acid change in the vitamin D receptor can disrupt its function and lead to hair loss.
June 2022 in “Biomedical reports” STK11 gene variations do not predict how well metformin will work for PCOS, but may affect hair loss and excess hair growth.
19 citations
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August 1999 in “European journal of endocrinology” The study concluded that testing hormone levels after stimulation is not reliable for identifying carriers of 21-hydroxylase deficiency; genetic testing is necessary.
44 citations
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January 2008 in “Fertility and Sterility” Longer CAG repeat lengths in the androgen receptor gene are linked to higher testosterone levels in women with PCOS.
August 2023 in “Frontiers in Endocrinology” Mutations in mitochondrial DNA might significantly contribute to the development of Polycystic Ovarian Syndrome.
5 citations
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January 2020 in “Bioscience Reports” Certain changes in the VEGF gene can increase or decrease the risk of polycystic ovary syndrome.
93 citations
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June 2001 in “The Journal of Clinical Endocrinology and Metabolism” Certain genetic variations in the AR and ERβ genes can affect androgen levels in women.
DNA analysis can help tailor alopecia treatment.
36 citations
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January 2010 in “Journal of Pediatric Endocrinology and Metabolism” A new gene mutation causes vitamin D resistance and hair loss in two unrelated girls.
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.
26 citations
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April 2011 in “British Journal of Dermatology” New mutations in the DSG4 gene cause a rare hair condition.
August 2014 in “Acta Crystallographica” Different forms of finasteride dissolve and remain stable differently, affecting capsule quality.
October 2024 in “Journal of the Endocrine Society” Certain genetic variants impair enzyme activity, contributing to non-classic congenital adrenal hyperplasia.
April 2022 in “Microbiology and Immunology” A specific DNA pattern in Malassezia restricta may be linked to hair loss in men.
83 citations
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April 1992 in “Journal of Biological Chemistry” Four-amino acid part makes enzyme sensitive to finasteride.
9 citations
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November 2012 in “Archives of Dermatological Research” MC4R gene variants not linked to female hair loss.
January 2024 in “Wiadomości Lekarskie” Low-penetration genes might help personalize colorectal cancer prevention.
11 citations
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November 2019 in “The FASEB Journal” A mutation in the MAP2 gene causes reduced hair follicle density, leading to hairlessness.
A new mutation in the TRPS1 gene caused Trichorhinophalangeal syndrome in a 17-year-old, highlighting the need for genetic testing.
32 citations
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January 2000 in “Human Heredity” Monilethrix severity varies and may be influenced by other genetic or environmental factors.
4 citations
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September 2021 in “Hormone and Metabolic Research” Different forms of the Vitamin D receptor can impact metabolic and hormone issues in Polycystic Ovary Syndrome.
4 citations
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February 2015 in “Journal of Clinical Laboratory Analysis” A genetic variant in the androgen receptor gene increases heart disease risk in women but not in men.
14 citations
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January 2013 in “Hormone and Metabolic Research” The severity of symptoms in nonclassical congenital adrenal hyperplasia is not determined by CYP21A2 gene variations.