January 2017 in “Murdoch Research Repository (Murdoch University)” A new genetic variant in the EEF2K gene may contribute to polycystic ovary syndrome.
58 citations
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July 2005 in “Molecular and Cellular Biology” A specific gene segment can make mouse skin cells glow, helping study hair growth and gene effects.
33 citations
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March 1994 in “PubMed” High ODC and low K1 and K10 may indicate early skin tumors in mice.
14 citations
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February 2022 in “The Journal of clinical investigation/The journal of clinical investigation” Scientists made a mouse model of a serious skin cancer by changing skin cells with a virus and a specific gene, which is similar to the disease in humans.
47 citations
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April 2000 in “Experimental Dermatology” A new gene mutation causes a rare type of hair loss.
5 citations
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October 2021 in “American Journal of Medical Genetics Part A” A new genetic variant causes BRESHECK syndrome by disrupting cell growth and stress response.
4 citations
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April 2012 in “The journal of investigative dermatology/Journal of investigative dermatology” Krt16-deficient mice help understand skin disorders like PC and FNEPPK.
24 citations
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July 2014 in “Journal of Investigative Dermatology” Nagashima-type palmoplantar keratosis in Asians is caused by a SERPINB7 gene mutation.
12 citations
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May 2003 in “Journal of dermatological science” Hsc70 protein may influence hair growth by responding to androgens.
4 citations
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September 2010 in “Medical Hypotheses” January 2007 in “Edward Elgar eBooks” TSPO might help treat anxiety and depression.
The document concluded that certain compounds might strongly bind to and potentially inhibit a key SARS-CoV-2 protein, but further testing is needed.
November 2012 in “Experimental and Clinical Endocrinology & Diabetes” A new genetic mutation causes severe Leydig cell hypoplasia, affecting sexual development.
Introducing the OTC gene improved symptoms in mice with OTC deficiency.
Skin tumor cells in patients with tuberous sclerosis have higher levels of a protein called cathepsin B.
4 citations
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August 2013 in “Chinese Medical Journal” A specific gene mutation in KRT86 is linked to hair disorder in a Chinese Han family.
28 citations
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September 1998 in “Journal of Investigative Dermatology” Two distinct caspases in human skin help with cell death and skin formation.
December 2025 in “Egyptian Journal of Basic and Applied Sciences” FOXA1 and CCL2 genes are more active in women with PCOS, varying by phenotype.
1 citations
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January 2015 in “Case reports in endocrinology” Women with nonclassical congenital adrenal hyperplasia may have a higher risk of fertility issues and miscarriages, and should get genetic counseling.
Not having the gene PLAAT3 leads to fat loss, high insulin resistance, and abnormal fat levels in the blood due to a disruption in fat cell development and function.
January 2024 in “Wiadomości Lekarskie” Low-penetration genes might help personalize colorectal cancer prevention.
October 2011 in “Journal of dermatology” A man with a rare skin condition and a new gene mutation developed high calcium levels due to his treatment.
January 2014 in “生命科学(ISSN1934-7391)” A certain gene variation can affect protein production and is linked to male pattern baldness.
40 citations
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December 2010 in “Human Genetics”
A new AIRE gene mutation causes rare autoimmune symptoms in a Lebanese boy.
February 2006 in “Inpharma Weekly” April 2019 in “Journal of the Endocrine Society” A young patient with unusual insulin resistance and high testosterone levels had a rare INSR gene mutation.
56 citations
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February 2006 in “American journal of physiology. Cell physiology” Steroid sex hormones activate matriptase in prostate cancer cells but not in breast cancer cells.
1 citations
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August 2024 in “Journal of Pharmacy & Pharmaceutical Sciences” The DPCP/HPβCD complex improves solubility and anti-inflammatory effects for alopecia areata treatment.
3 citations
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April 2024 in “Molecular Human Reproduction” Paxillin may help manage androgen-related disorders like PCOS by stabilizing androgen receptor proteins.