5 citations
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January 2024 in “JID Innovations” CCCA involves immune response and metabolism issues, suggesting new treatment options.
15 citations
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November 2022 in “Cell Death and Disease” CEP135 may predict cancer outcomes, and targeting PLK1 could help treat certain sarcomas.
January 1999 in “American Journal of Medical Genetics Part A” The report expanded knowledge of MBTPS1-related disorders by identifying new symptoms.
April 2017 in “Journal of Investigative Dermatology” Eating a lot of fat increases PKCβ and inflammation in skin fat cells, which affects skin and hair health.
March 2026 in “Bioconjugate Chemistry” Peptide-based PROTACs show promise in targeting hard-to-treat proteins, especially for cancer therapy.
45 citations
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November 2012 The conclusion is that androgen receptor gene polymorphism might be a marker for polycystic ovary syndrome, but more research is needed.
24 citations
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July 2014 in “Journal of Investigative Dermatology” Nagashima-type palmoplantar keratosis in Asians is caused by a SERPINB7 gene mutation.
9 citations
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May 2021 in “Frontiers in Cell and Developmental Biology” DNA methylation changes in women with PCOS could be used as disease markers and suggest new treatment targets.
11 citations
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January 2022 in “Experimental Dermatology” Severe CCCA may be biologically and clinically different from milder forms.
49 citations
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November 2019 in “Egyptian Journal of Medical Human Genetics” Certain gene variants may contribute to high androgen levels in women with polycystic ovary syndrome.
54 citations
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May 1994 in “Veterinary Pathology” PTHrP is higher in certain dog tumors and may act as a local growth factor.
November 2025 in “International Journal of Clinical Obstetrics and Gynaecology” PCOS is likely inherited in families, increasing risk for first-degree relatives.
December 2024 in “Medicina” PCOS is linked to chronic low-grade inflammation, but the role of certain infections is unclear.
January 2014 in “生命科学(ISSN1934-7391)” A certain gene variation can affect protein production and is linked to male pattern baldness.
12 citations
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November 2024 in “Journal of Ovarian Research” Certain inflammatory factors may increase or decrease the risk of developing PCOS.
December 2021 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism” Men can have genetic risks for PCOS-related traits like obesity and diabetes.
November 2025 in “Journal of Investigative Dermatology” A new genetic mutation causing Xeroderma Pigmentosum was found in an 8-year-old girl, affecting her DNA repair.
2 citations
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May 2020 in “Journal of the American Academy of Dermatology” Hair shaft changes may be linked to CCCA, but their role is unclear.
9 citations
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February 2013 in “Hormone and Metabolic Research” Mutations in the CYP21A2 gene are not a major factor in causing PCOS.
52 citations
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May 2006 in “Journal of Structural Biology” Keratin-associated proteins help link filaments and affect keratin's strength.
179 citations
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July 2005 in “Human Reproduction Update” PCOS is influenced by both genes and environment, but its exact genetic cause is still unclear.
75 citations
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September 2016 in “EMBO journal” PRC2 is essential for maintaining intestinal cell balance and aiding regeneration after damage.
5 citations
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July 2014 in “Acta Crystallographica Section D-biological Crystallography” Mutations in the enzyme don't significantly change how it binds to its specific substances.
40 citations
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February 2005 in “Fertility and Sterility” Some women with PCOS have CYP21 mutations and IRS1 variants, but these genetic factors are not major contributors to PCOS.
January 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” Skin lesions in Carney complex are likely caused by a specific group of skin cells that promote pigment production due to a genetic mutation.
1 citations
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January 2012 The CRABP I gene in cashmere goats is highly conserved but has unique features at specific amino sites.
September 2024 in “Journal of the American Academy of Dermatology” PRO-C22 can help diagnose and monitor the severity of hidradenitis suppurativa.
December 2024 in “Era s journal of medical research” Genetic variants in CYP genes may worsen PCOS symptoms.
11 citations
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January 2009 in “Indian journal of dermatology, venereology, and leprology” DCPA is a chronic skin condition affecting the lower limbs, mainly in men, with unclear causes and treatments that often don't work well.
7 citations
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March 2011 in “Hormone and Metabolic Research” Certain gene variations might help protect against insulin resistance and glucose intolerance in people with Polycystic Ovary Syndrome.