September 1999 in “Molecular Carcinogenesis” Increased ODC expression makes normally tumor-resistant mice more prone to tumor development.
July 2021 in “British Journal of Dermatology” The boy's genetic diagnosis of ectodermal dysplasia helped improve management and counseling for him and his sister.
40 citations
,
December 2010 in “Human Genetics”
39 citations
,
January 2019 in “Cells” Gene therapy has potential as a future treatment for Hutchinson-Gilford progeria syndrome.
6 citations
,
March 2017 in “Journal of the European Academy of Dermatology and Venereology” Identical twins with a rare KRT 86 gene mutation both have the hair disorder monilethrix.
63 citations
,
January 1999 in “The Journal of Clinical Endocrinology & Metabolism” Polycystic ovaries and early male baldness are inherited traits.
29 citations
,
December 2017 in “Molecular therapy” Enzyme replacement therapy improved multiple symptoms of homocystinuria in mice.
15 citations
,
April 2022 in “Ginekologia Polska” Higher thyroid hormone levels may be linked to certain types of polycystic ovary syndrome.
62 citations
,
January 2010 in “Hormone research in paediatrics” Genetic screening is crucial for accurately diagnosing APS-1 due to its varied symptoms.
49 citations
,
May 1974 in “Biochimica et Biophysica Acta (BBA) - Protein Structure” Transamidases are present in the epidermis but their exact role is unclear.
21 citations
,
January 2018 in “PLoS Genetics” Certain genetic variants in keratins increase the risk of tooth decay.
1 citations
,
February 2014 in “Archiv Der Pharmazie” Carbamates may help treat androgen-dependent conditions by changing how certain lipid enzymes are produced.
3 citations
,
October 2025 in “Cancer” PROTACs offer a new, precise way to treat cancer by breaking down harmful proteins.
October 2023 in “IntechOpen eBooks” Genes and epigenetic changes are important in the development of Polycystic Ovary Syndrome.
1 citations
,
January 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” Increased PHGDH expression causes early melanin buildup in hair follicles.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” Tet2 and Tet3 enzymes are important for controlling hair growth and shape by affecting gene activity and DNA structure in hair follicles.
March 2025 in “The Scientific Issues of Ternopil Volodymyr Hnatiuk National Pedagogical University Series pedagogy” Primary mitochondrial cytopathies often cause skin, endocrine, vision, and blood issues, needing careful diagnosis.
24 citations
,
May 2006 in “Proceedings of the National Academy of Sciences of the United States of America” Budesonide and N-acetylcysteine reduced tumors and alopecia in mice, regardless of FHIT gene status.
73 citations
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June 2010 in “PLoS Genetics” A gene mutation in mice causes hair loss, weak bones, and protein buildup, showing how protein processing issues can lead to diseases.
May 2022 in “Experimental dermatology” Trichothiodystrophy hair is structurally abnormal with protein and organization issues.
The gene Endothelin 3 makes mice's fur darker by increasing pigment cells and pigment levels.
12 citations
,
January 2016 in “Journal of Assisted Reproduction and Genetics” Certain gene variations are linked to higher male hormone levels in Chinese women with PCOS and insulin resistance.
6 citations
,
February 2022 in “The journal of neuroscience/The Journal of neuroscience” Deleting the PTEN gene in mice causes nerve cells to grow larger and heal better after injury, but may cause overgrowth and hair loss in older mice.
January 2014 in “生命科学(ISSN1934-7391)” A certain gene variation can affect protein production and is linked to male pattern baldness.
November 2025 in “Journal of Investigative Dermatology” Genetic variants in specific genes cause central centrifugal cicatricial alopecia.
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.
3 citations
,
October 2024 in “International Journal of Molecular Sciences” Certain genes in fat tissue affect weight loss in women with PCOS.
32 citations
,
March 2013 in “EMBO journal” The plant hormone auxin activates the TOR pathway, affecting gene expression related to growth and cell size.
July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” The early genes of a specific virus can cause abnormal skin cell growth and hair follicle changes.
March 2021 in “Medico-Legal Update” The androgen receptor gene doesn't affect women with recurrent spontaneous abortions, but having a mutant genotype might protect against it.