47 citations
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September 2002 in “Journal of Bone and Mineral Research” A mutation in the vitamin D receptor causes severe resistance to vitamin D, affecting bone health but not hair growth.
19 citations
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August 1999 in “European journal of endocrinology” The study concluded that testing hormone levels after stimulation is not reliable for identifying carriers of 21-hydroxylase deficiency; genetic testing is necessary.
22 citations
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June 1994 in “Journal of Investigative Dermatology” 141 citations
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February 1988 in “Molecular and Cellular Biology” Only one K16 gene on chromosome 17 makes a functional keratin protein.
44 citations
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July 2012 in “Endocrine Practice” We need to learn more about 5α-reductases and neuroactive steroids to safely make drugs targeting these enzymes.
7 citations
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June 2022 in “Biology” Men with more CAG repeats in the androgen receptor gene and lower testosterone levels may experience more severe COVID-19.
30 citations
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February 2021 in “Journal of Medical Virology” TMPRSS2 affects COVID-19 severity and treatment options.
November 2022 in “Journal of the Endocrine Society” Estrogen deficiency can reduce the enzyme activity needed to activate vitamin D.
18 citations
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February 2015 in “Acta Crystallographica Section D: Structural Biology” The study concludes that certain domains in Clostridium histolyticum enzymes are structurally unique, bind calcium to become more stable, and play distinct roles in breaking down collagen, with potential applications in medicine and drug delivery.
134 citations
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February 2005 in “Neuropsychopharmacology” GABRA2 gene variations impact alcohol response, and hair loss medication finasteride reduces some effects.
October 2023 in “Lithuanian University of Health Sciences” The TG5 gene affects beef cattle weight, and the CC genotype leads to higher weights.
2 citations
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June 2020 in “Research Square (Research Square)” A prostate cancer drug can lower the levels of a protein that the coronavirus uses to enter lung cells.
1 citations
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December 2018 in “Journal of genetic medicine” A small change in the TRPS1 gene leads to a less severe form of a syndrome affecting hair, nose, and finger development.
January 1990 in “UCL Discovery (University College London)” The guinea pig α-lactalbumin gene was successfully expressed in the mammary glands of transgenic mice.
September 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” FOL-026 peptide can help repair blood vessels and promote growth, offering potential treatment for vascular diseases.
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.
277 citations
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July 2002 in “Molecular Endocrinology” Removing part of the vitamin D receptor stops vitamin D from working properly.
40 citations
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January 2017 in “Intestinal Research” Genotyping for NUDT15 p.Arg139Cys can help predict thiopurine side effects in Japanese IBD patients.
77 citations
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April 2009 in “British Journal of Dermatology” Aromatase gene variation may increase female hair loss risk.
4 citations
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November 2024 in “Cell Biology and Toxicology” Blocking certain receptors in the lungs might help treat a specific type of asthma.
4 citations
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April 2021 in “Experimental and Molecular Medicine” The conclusion is that certain genetic factors and blood types may affect COVID-19 severity, but changes in ACE2 and TMPRSS2 genes are not clearly linked to it.
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.
August 2019 in “Carolina Digital Repository (University of North Carolina at Chapel Hill)” DHT enhances androgen receptor activity more than testosterone, and MAGE-11 influences this activity through specific interactions.
15 citations
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June 2012 in “British Journal of Dermatology” A new mutation in the KRT86 gene causes a hair disorder with variable expression.
8 citations
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January 2015 in “Genetics and molecular research” Researchers found four key proteins that affect the development of a specific hair type in Yangtze River Delta white goats.
January 2014 in “China Feed” Higher expression of the keratin-associated protein 8.1 gene in Liaoning cashmere goats is linked to finer cashmere fibers.
November 2025 in “Molecular and Cellular Biomedical Sciences” There is no significant link between the MMP-1 rs1799750 polymorphism and androgenetic alopecia in the Indonesian population.
25 citations
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July 2006 in “Journal of Neurochemistry” Progesterone affects GABAA receptor function by altering δ subunit levels.
11 citations
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January 2020 in “BMC pediatrics” New mutations in the SLC39A4 gene found in twins help understand the genetic cause of acrodermatitis enteropathica.
26 citations
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May 2012 in “Cellular and Molecular Life Sciences” NcoA4 may have roles beyond helping control gene activity, possibly affecting cell behavior and stability.