6 citations
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February 2004 in “Clinical and Experimental Ophthalmology” The document concludes that careful diagnosis is crucial for chromosome 13q deletion syndrome, tamoxifen can cause reversible eye damage, finasteride may be linked to cataracts, and OCT is useful for diagnosing macular diseases.
14 citations
,
December 1998 in “British Journal of Cancer” Truncated hHb1 keratin may play a role in breast cancer cell transformation.
33 citations
,
May 2017 in “Journal of Clinical Oncology” ETC-159 was safe up to 30 mg, but no tumor shrinkage was seen.
July 2023 in “British journal of dermatology/British journal of dermatology, Supplement” HPV8 E6 gene causes growth of certain skin stem cells.
4 citations
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October 2024 in “Heliyon” CYP154C7 enzyme can effectively modify steroids and is promising for commercial use.
50 citations
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February 2016 in “Journal of Investigative Dermatology” A mutation in the KRT25 gene causes a rare hair disorder with thin, woolly hair.
4 citations
,
September 2004 in “Experimental Dermatology” Connexin mutations can cause various diseases like hearing loss and skin disorders.
151 citations
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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.
3 citations
,
March 2019 in “Case Reports” A man with myotonic dystrophy type 1 had 28 skin cancers, suggesting a link between the disease and skin cancer, emphasizing the need for sun protection and regular skin checks.
February 2024 in “Zagazig University Medical Journal” TCF7L2 gene polymorphism is linked to alopecia areata, but it doesn't affect the success of PRP or conventional treatments.
11 citations
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July 2010 in “European Journal of Dermatology” The condition is linked to chromosome 12, but no mutations were found in the known genes.
21 citations
,
January 2018 in “Anticancer Research” NBCCS and BFHS might be the same syndrome, helping better identify and manage cases.
March 2011 in “European Urology Supplements” Blood tests for tumor cells could improve prostate cancer diagnosis and treatment; hair loss severity linked to a gene affecting prostate conditions.
December 2022 in “Gastroenterology” A man with Cronkhite-Canada syndrome improved significantly with immunosuppressive therapy.
20 citations
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March 2021 in “Cancers” Certain genetic variants increase the risk of aggressive prostate cancer.
10 citations
,
June 2011 in “Movement Disorders” THAP1 gene changes do not affect DYT1 dystonia; finasteride may help reduce tics and OCD in Tourette syndrome.
76 citations
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January 1998 in “Mammalian Genome”
13 citations
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September 2011 in “Archives of dermatology” A patient with steroid sulfatase deficiency had a unique hair pattern and a brain malformation not previously linked to the condition.
Mutations in specific genes cause different types of ectodermal dysplasias.
9 citations
,
May 2014 in “BMC medical genetics” A woman with a unique syndrome similar to TRPS has a genetic change near the TRPS1 gene, affecting its regulation.
June 2023 in “British journal of dermatology/British journal of dermatology, Supplement” A child with skin and tooth symptoms was found to have a genetic mutation causing cardiocutaneous syndrome, leading to heart problems.
2 citations
,
January 2019 in “Medizinische Genetik” The document reports findings on genetic research, including ethical concerns about genome editing, improved diagnosis of mitochondrial mutations, solving inherited eye diseases, confirming gene roles in epilepsy, linking a gene to aneurysms, and identifying genes associated with age-related macular degeneration.
January 2007 in “Revista del Centro Dermatológico Pascua” A 2-year-old boy was diagnosed with a rare genetic condition causing fragile hair, intellectual issues, and short stature.
1 citations
,
January 2020 Cepharanthine shows promise as a potential lung cancer treatment by effectively killing cancer cells.
September 2016 in “Journal of Dermatological Science” A gene mutation worsens skin irritation in mice due to a lack of certain fats.
January 2020 in “ScholarWorks (Central Washington University)” NAG-1 may help prevent some metabolic issues related to PCOS.
7 citations
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April 2000 in “Archives of Pathology & Laboratory Medicine”
44 citations
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January 2008 in “Fertility and Sterility” Longer CAG repeat lengths in the androgen receptor gene are linked to higher testosterone levels in women with PCOS.
March 2023 in “Journal of Cosmetic Dermatology” A genetic variant linked to hair thinning in Japanese women was found.
March 2011 in “European Urology Supplements” The document concludes that a new biosensor can efficiently detect prostate cancer cells and that standardized referrals help find significant cancers effectively.