1 citations
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October 2023 in “Heliyon” An infant with Hutchinson-Gilford Progeria Syndrome had successful surgery to fix breathing issues caused by a new genetic mutation.
May 2026 in “Frontiers in Medicine” The patient's hair improved after treatment, but the genetic link is unclear.
2 citations
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July 2015 in “Archives of Dermatological Research” A new gene variant in the DSP gene is linked to a unique type of hair loss.
May 2010 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” A mutation in the KRT74 gene causes woolly hair by affecting hair texture.
October 2024 in “Frontiers in Pharmacology” Genetic variants can affect valproic acid's effectiveness, side effects, and levels in epilepsy treatment.
12 citations
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July 2004 in “Molecular genetics and genomics” A new mouse mutation causes skin and hair defects due to a gene change.
April 2019 in “Journal of Investigative Dermatology” Non-coding RNA boosts retinoic acid production and signaling, aiding regeneration.
1 citations
,
November 2008 in “Acta crystallographica” Scientists successfully created and analyzed the structure of a part of the human androgen receptor with specific modulators and a peptide to understand how it binds differently in various tissues.
1 citations
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September 2014 in “Hormones” Over a third of women thought to have non-classical congenital adrenal hyperplasia didn't have it confirmed by genetic tests.
1 citations
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January 2022 in “Annals of Dermatology” A new mutation in the MBTPS2 gene causes a mild form of IFAP syndrome.
November 2005 in “PubMed” The hairless gene in Kunming mice is important for hair and skin, and shows genetic variations.
3 citations
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August 2021 in “Research Square (Research Square)” The most common sign of aging at the gene level is more Ectodysplasin A2 Receptor (EDA2R) being made.
77 citations
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March 2000 in “Journal of Investigative Dermatology” The research identified six functional hair keratin genes and four pseudogenes, providing insights into hair formation and gene organization.
37 citations
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January 2008 in “Gynecological Endocrinology” Shorter CAG repeats in a specific gene may increase male hormone activity and symptoms like acne and excess hair in women with PCOS.
1 citations
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September 2023 in “Frontiers in Genetics” A heterozygous mutation in HTRA1 can cause severe CARASIL symptoms.
October 2023 in “Benha Journal of Applied Sciences” PPAR-γ may be a key target for treating alopecia areata and other skin conditions.
175 citations
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August 1997 in “Nature Genetics” November 2025 in “Figshare” SQSTM1 is linked to increased risk of alopecia areata.
69 citations
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December 2015 in “BMC plant biology” Three genes in Arabidopsis are important for plant growth and development by affecting sugar attachment to proteins.
111 citations
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October 2008 in “Nature Genetics” Researchers found a new gene area linked to male-pattern baldness, which, along with another gene, significantly increases the risk of hair loss in men.
1 citations
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September 2021 in “Frontiers in genetics” A genetic mutation in the DCAF17 gene caused Woodhouse-Sakati syndrome in a Chinese patient from a related family.
10 citations
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March 2019 in “Human Genetics” A genetic mutation in the SGK3 gene causes hairlessness in Scottish Deerhounds and may relate to human hair loss.
10 citations
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January 2014 in “Journal of Pediatric Endocrinology and Metabolism” Three new gene mutations cause rickets and hair loss, treatable with high calcium and calcidol, but hair regrowth is rare.
9 citations
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February 2002 in “PubMed” A new gene mutation causes hereditary coproporphyria with reduced enzyme activity.
1 citations
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August 2012 in “Journal der Deutschen Dermatologischen Gesellschaft” A woman's hyperandrogenism was caused by a genetic mutation leading to non-classic adrenogenital syndrome.
40 citations
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January 2013 in “Frontiers in Endocrinology” Finger length ratios are not linked to the number of specific gene repeats affecting testosterone sensitivity.
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.
May 2025 in “Anadolu Kliniği Tıp Bilimleri Dergisi” Gene variations may increase oxidative stress in male pattern baldness.
58 citations
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June 2018 in “Scientific reports” Researchers found 15 new genetic links to skin traits in Japanese women.
A 5 cm hair sample can reveal blood type and keratin type for forensic use.