97 citations
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December 2011 in “New England Journal of Medicine” The FDA did not approve certain drugs for prostate cancer prevention due to concerns about their effectiveness and potential risks.
A new genetic mutation was found causing hair and eye issues in a boy.
November 2016 in “The Molecular Biology Society of Japan” 18 citations
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February 2001 in “Der Hautarzt” A woman with myotonic dystrophy had multiple skin tumors on her scalp, suggesting a genetic link.
12 citations
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July 2015 in “Tissue Antigens” The A allele of the C2 gene increases the risk of lupus, while the G allele may protect against it.
11 citations
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January 2009 in “World Journal of Gastroenterology” A woman with both Cronkhite-Canada syndrome and myelodysplastic syndrome improved significantly with corticosteroid treatment.
16 citations
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September 2015 in “International Journal of Molecular Sciences” A specific gene variant causes severe skin issues and increases infection risk, requiring careful medical monitoring.
January 2017 in “Springer eBooks” 1 citations
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January 2016 in “Australasian Journal of Dermatology” A rare genetic mutation caused unusual skin symptoms in a man with Blau syndrome.
October 2025 in “Clinical and Experimental Pediatrics” A novel CLDN1 mutation in a 2-month-old with NISCH showed improvement with symptom management.
October 2023 in “Journal of cystic fibrosis”
47 citations
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November 2012 in “Expert Opinion on Therapeutic Patents” The document concludes that research on sulfatase inhibitors should continue due to their potential in treating various diseases, despite some clinical trial failures.
5 citations
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March 2024 in “World Allergy Organization Journal” Eight blood metabolites are linked to causing allergic conjunctivitis, offering new ways to predict and treat it.
36 citations
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March 2005 in “Biotechnology and Bioengineering” A new method speeds up insulin amyloid fibril growth, useful for studying diseases.
August 2023 in “Gastroenterology” A 78-year-old man with Cronkhite-Canada syndrome improved significantly after treatment and remains symptom-free.
1 citations
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December 2013 in “Balkan Journal of Medical Genetics” Cystic fibrosis can cause unusual symptoms like hair color changes, which can improve with proper treatment.
37 citations
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September 2003 in “Journal of Medicinal Chemistry” A substance called Compound 2g can strongly block STS (a hormone-related enzyme) without affecting estrogen levels, making it potentially good for treating breast cancer.
3 citations
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July 2020 in “Synthetic and Systems Biotechnology” Scientists improved an enzyme to better produce a hair growth-promoting chemical from an immunosuppressant.
December 2022 in “Gastroenterology” A man with Cronkhite-Canada syndrome improved significantly with immunosuppressive therapy.
81 citations
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July 2008 in “The Journal of Clinical Endocrinology and Metabolism” Certain mutations in the H6PD gene cause Cortisone Reductase Deficiency by affecting hormone production.
29 citations
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June 2015 in “Kidney International” Disrupting the Flcn gene in mice causes early kidney cysts and tumors, which can be treated with rapamycin.
29 citations
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January 2021 in “Translational Psychiatry” The research suggests that Tourette syndrome is linked to both brain signaling and immune system pathways.
4 citations
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October 2001 in “Mycoses” A young cat had a rare fungal infection caused by Microsporum gypseum.
2 citations
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July 1999 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology” Proteolytic enzymes damaged hair follicle stem cells in transgenic mice.
Alpha-ketoglutaric acid may help treat aging and age-related diseases.
Ca²⁺-mediated protein citrullination controls cell growth in the CNS and may help treat brain tumors.
1 citations
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March 2012 in “Revue neurologique” Proper diet management is crucial for preventing severe symptoms in phenylketonuria.
13 citations
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June 2010 in “Journal of The American Academy of Dermatology” A man with Cronkhite-Canada syndrome had all 20 nails detach but improved with treatment.
14 citations
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May 2017 in “Journal of Investigative Dermatology” A rare gene mutation causes skin fragility and itching without affecting hair or nails.
33 citations
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February 2012 in “British Journal of Dermatology” Mutations in the p63 gene affect skin adhesion, barrier integrity, and hair growth.