2 citations
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May 2017 in “International journal of pharmacy and pharmaceutical sciences/International Journal of Pharmacy and Pharmaceutical Sciences” Hutchinson-Gilford Progeria Syndrome is a rare genetic disorder caused by a specific gene mutation, characterized by aging symptoms and managed by monitoring heart health and using low-dose aspirin.
14 citations
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March 2018 in “The American journal of case reports” People with the same genetic mutation for Woodhouse-Sakati syndrome can have different symptoms.
November 2022 in “Journal of the Endocrine Society” A 21-year-old male with a rare genetic disorder experienced sudden hair loss and high DHEAS levels, likely due to a condition similar to PCOS, usually seen in women.
March 2024 in “International journal of molecular sciences” Three specific genetic variants cause severe skin issues in children with EBS, highlighting the need for early genetic screening.
November 2024 in “Journal of Investigative Dermatology” Understanding snoRNA regulation may help slow skin aging.
39 citations
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September 2012 in “Human Reproduction” Certain genetic variations in the SHBG gene are linked to an increased or decreased risk of PCOS in Mediterranean women.
26 citations
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September 2010 in “Experimental Dermatology” Two gene areas linked to male pattern baldness found, more research needed.
The curly mutation in SELH/Bc mice affects hair and may help study human genetic disorders.
June 2023 in “International Journal of Research in Dermatology” Certain gene variations are linked to severe acne in Egyptian patients and could guide treatment choices.
13 citations
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September 2007 in “International Journal of Dermatology” Vitamin D receptor gene variations are not linked to alopecia areata.
29 citations
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June 2017 in “Journal of Inherited Metabolic Disease” High-content screening is useful for finding new treatments for rare diseases and has led to FDA-approved drugs.
November 2020 in “Journal of The American Academy of Dermatology” The conclusion is that many small genetic variations influence claw disorders in cows, and using genomic selection could help reduce these disorders.
August 2023 in “Journal of Investigative Dermatology” Different body areas have unique skin cell communication patterns, explaining why certain skin diseases occur in specific regions.
A new syndrome, Teelwani Syndrome, combines features of two rare genetic disorders.
January 2025 in “Dermatology Reports” Early and accurate diagnosis is crucial for managing rare genetic disorders like this localized variant of junctional epidermolysis bullosa.
32 citations
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February 1998 in “The journal of investigative dermatology/Journal of investigative dermatology” Two specific hair keratin genes are active during hair growth and decline as hair transitions to rest.
1 citations
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September 2023 in “Animals” A new goat gene affects cashmere fiber thickness; certain variations can make the fibers coarser.
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.
July 2024 in “Journal of Investigative Dermatology” A new test helps find drugs to treat head and neck cancer by targeting c-Rel.
May 2010 in “OPAL (Open@LaTrobe) (La Trobe University)” Vaccines and targeting TrxR variants can help prevent cancer and reduce metastasis.
2 citations
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June 2018 in “International Journal of Pharmacological Research” Hutchinson-Gilford Progeria Syndrome caused rapid aging due to a genetic mutation, with treatments to manage symptoms.
11 citations
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March 2013 in “Gene” A certain genetic variation in the IL1A gene may lower the risk of a hair loss condition in Chinese people.
Certain genes may influence hair loss differently in men and women.
50 citations
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February 2013 in “BMC evolutionary biology” Cetaceans lost hair due to changes in the Hr and FGF5 genes.
3 citations
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December 2008 in “Frontiers of Agriculture in China” The Cashmere goat hair keratin gene is crucial for hair structure.
11 citations
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January 2023 in “World Journal of Clinical Cases” Idiopathic hirsutism might not be truly idiopathic but could be an early stage of hyperandrogenic disorders.
Defective protein folding due to a mutation is key in ANE syndrome.
January 2002 in “Proceedings of The Japanese Society of Animal Models for Human Diseases” Keratin2-6g is crucial for hair follicle development, with mutations causing cell degeneration and vacuolation.
1 citations
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January 2017 in “The Annals of Clinical and Analytical Medicine” Vitamin D receptor gene changes don't affect alopecia areata risk.
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.