9 citations,
July 2011 in “Scientific Reports” Changes in the HR gene have influenced hair growth and may lead to hair loss conditions in humans.
September 2021 in “International Journal of Biomedicine” Certain gene variations are linked to a higher risk of severe acne, suggesting a genetic influence on the condition.
188 citations,
June 1998 in “Molecular cell” Researchers created a mouse with the same mutation as humans with trichothiodystrophy, showing similar symptoms and confirming the condition is due to defects in DNA repair and gene activity.
3 citations,
April 2012 in “Bioinformation” Two specific SNPs in the TRPS1 gene cause excessive hair growth by altering the protein's structure.
May 2023 in “Pharmaceuticals” Three specific mutations in the LIPH gene can cause hair loss by damaging the protein's structure and function.
27 citations,
November 2007 in “Genomics” Mutations in specific keratin genes cause improper hair structure in mice due to faulty keratin protein assembly.
92 citations,
December 2016 in “Scientific Reports” Researchers identified genes linked to coat color, body size, cashmere production, and high altitude adaptation in goats.
451 citations,
March 2005 in “Endocrine Reviews” The enzyme steroid sulfatase is linked to breast cancer and other conditions, and inhibitors are being developed for treatment.
260 citations,
July 2010 in “Cell” Mutations in the SRD5A3 gene cause a new type of glycosylation disorder by blocking the production of a molecule necessary for protein glycosylation.
245 citations,
January 2018 in “Bone Research” TGF-β is crucial for tissue repair and can cause diseases if not properly regulated.
151 citations,
December 2004 in “Annals of the New York Academy of Sciences” Congenital Adrenal Hyperplasia is a genetic disorder with two forms, causing symptoms like early puberty and severe acne, but can be identified through screening and treated with glucocorticoids.
142 citations,
March 2019 in “Frontiers in Cellular Neuroscience” The document concludes that adenosine receptor agonists have potential for treating various conditions, but only a few are approved due to challenges like side effects and the need for selective activation.
117 citations,
May 2017 in “Human Reproduction Update” The update highlights that non-classic congenital adrenal hyperplasia is common in women with excess male hormones, requires specific hormone tests for diagnosis, and has various treatment options depending on age and symptoms.
113 citations,
March 2018 in “Biological reviews/Biological reviews of the Cambridge Philosophical Society” Animals that change color with the seasons mainly do so in response to daylight changes, but climate change is causing camouflage problems that may require evolutionary changes.
105 citations,
August 2010 in “Pharmacology & therapeutics” Formyl-peptide receptor agonists could be new anti-inflammatory drugs.
103 citations,
October 2003 in “Birth Defects Research” Both genes and environmental factors like chemicals may contribute to the increase in hypospadias, but the exact causes are still unclear.
95 citations,
February 2019 in “The New England Journal of Medicine” Mutations in the PADI3 gene are linked to a higher risk of scarring hair loss in women of African descent.
83 citations,
April 1992 in “Journal of Biological Chemistry” Four-amino acid part makes enzyme sensitive to finasteride.
76 citations,
June 2015 in “Journal of biomedical science” Mutations in Gasdermin A3 cause skin inflammation and hair loss by disrupting mitochondria.
47 citations,
December 2019 in “Frontiers in immunology” A new mutation in the STING protein causes a range of symptoms and its severity may be affected by other genetic variations; treatment with a specific inhibitor showed improvement in one patient.
40 citations,
December 2019 in “Neurobiology of Stress” Neuroactive steroids show promise for treating mental and neurological disorders by targeting GABA_A receptors.
40 citations,
November 1998 in “The journal of investigative dermatology/Journal of investigative dermatology” S100A3 protein is crucial for hair shaft formation in mice.
28 citations,
May 2017 in “Molecular ecology” Researchers found genes that control hair color and growth change before the visible coat color changes in snowshoe hares.
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,
November 2001 in “Archives of Dermatology” Genetic discoveries are key for understanding, diagnosing, and treating inherited hair and nail disorders.
22 citations,
March 2017 in “Scientific reports” Double-stranded RNA causes inflammation in hair follicle cells, which may help understand and treat alopecia areata.
20 citations,
February 2019 in “Genes” The study concludes that mutations in the AEBP1 gene can cause a form of Ehlers-Danlos syndrome and should be considered in diagnosis.
20 citations,
January 2017 in “Scientific reports” Whale genes show changes that help them live in water, like less hair and better flippers.
16 citations,
May 2000 in “Endocrinology” A new gene, mrp4, is found in mice and may play a unique role in hair follicle development in tails and ears.
12 citations,
May 2001 in “British journal of dermatology/British journal of dermatology, Supplement” A rare benign skin tumor showed unusual features of sebaceous and sweat glands, important for correct diagnosis.