14 citations
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February 1991 in “FEBS Letters” Introducing the rat OTC gene partially corrected OTC deficiency in mice.
March 2025 in “American Journal of Medical Genetics Part A” A rare genetic variant linked to skin cysts was found in blood DNA, suggesting its role in cyst formation.
August 2012 in “Nature Cell Biology” The tumor suppressor BRCA2 helps in cell division by bringing key proteins to the area where cells split.
19 citations
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April 2014 in “Expert opinion on emerging drugs” New treatments for a type of skin cancer show promise but have side effects and may work better with other therapies.
45 citations
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January 2022 in “Lab on a Chip” The platform effectively grows lung cancer cell spheroids for drug testing.
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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.
November 2023 in “ACS Omega” New liposome treatment successfully delivers CRISPR to deactivate a key enzyme in androgen-related disorders.
34 citations
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February 2016 in “Fertility and Sterility” More PDCD4 is linked to obesity, insulin problems, and cell death in ovaries for those with polycystic ovary syndrome.
106 citations
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March 2013 in “Nature Communications” A new genetic region, 17q21.31, is linked to higher ovarian cancer risk.
1 citations
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June 2025 in “Pigment Cell & Melanoma Research” SASH1 gene mutations are linked to various inherited skin pigmentation disorders.
1 citations
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October 2007 in “The Cancer Handbook” Malignant melanoma is the deadliest skin cancer, while BCC is the most common but rarely spreads, and SCC is more aggressive than BCC.
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July 2011 in “PLoS ONE” HPV-150 and HPV-151 are rare skin viruses linked to warts and some skin cancers.
1 citations
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July 2012 in “Nasza Dermatologia Online” CCCA may be caused by both hair traction and an immune response.
March 2023 in “The Journal of Urology” Higher SRD5A2 expression predicts better response to finasteride in treating urinary symptoms.
23 citations
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August 1983 in “PubMed” Clq deficiency is linked to systemic lupus erythematosus symptoms.
January 2011 in “Junshi yixue” A mouse model for studying scleroderma in chronic graft-versus-host disease was successfully created.
April 2020 in “Journal of the Endocrine Society” Non-classic congenital adrenal hyperplasia (NCCAH) can mimic PCOS and requires genetic testing for proper diagnosis and treatment.
1 citations
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October 2023 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology” A man developed skin lesions as a side effect of a gamma secretase inhibitor used for treating a tumor.
5 citations
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January 2016 in “European Journal of Dermatology” Suplatast tosilate successfully treated a woman's systemic sclerosis symptoms.
4350 citations
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May 2012 in “Arthritis & Rheumatism” The new SLICC criteria for diagnosing lupus are more sensitive and accurate than the old criteria.
February 2017 in “Cancer Research” Topical calcitriol appears safe and may reduce hair loss during chemotherapy.
November 2024 in “NeoReviews” Pallister-Killian Syndrome is a complex genetic disorder requiring coordinated care and genetic counseling.
18 citations
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February 2022 in “Cell Death Discovery” ECM1-modified stem cells can effectively treat liver cirrhosis.
8 citations
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January 2015 in “Genetics and Molecular Research” Certain gene variations increase the risk of alopecia areata in Koreans.
7 citations
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December 2014 in “Gynecological Endocrinology” LC-MS/MS is more reliable than immunoassays for diagnosing 21-hydroxylase deficiency.
December 2016 in “University of Birmingham Institutional Research Archive (University of Birmingham)” Steroid-producing capabilities in certain cancers may contribute to treatment resistance.
6 citations
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July 2018 in “DOAJ (DOAJ: Directory of Open Access Journals)” A woman had a rare liver tumor causing male-like physical changes, highlighting the need for thorough checks when such symptoms appear.
January 2020 in “JAAD case reports” Systemic mastocytosis may cause a type of hair loss called cicatricial alopecia.
December 2024 in “The Eurasia Proceedings of Science Technology Engineering and Mathematics” Higher ꝩ-GCS enzyme levels in PCOS patients may play a role in the disease.
9 citations
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February 2023 in “Medicine” Traditional Chinese medicine may help relieve symptoms of Cronkhite-Canada syndrome.