29 citations
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March 2000 in “Journal of Investigative Dermatology” The gene for Marie Unna hereditary hypotrichosis is located on chromosome 8p21.
475 citations
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October 2006 in “Proceedings of the National Academy of Sciences” Folliculin helps regulate energy and nutrient sensing, impacting Birt–Hogg–Dubé syndrome.
9 citations
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March 2017 in “Journal of Visualized Experiments” The assay effectively identifies compounds that affect immune cell activation.
25 citations
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September 2015 in “Clinical Endocrinology” Using 17-hydroxyprogesterone levels to diagnose nonclassic congenital adrenal hyperplasia can result in many incorrect diagnoses.
72 citations
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January 2003 in “American Journal of Pathology” A protein called CBP is found in prostate cancer and can increase the effectiveness of certain prostate cancer treatments.
May 2024 in “International journal of medicine and psychology.” Age-related immune changes significantly affect disease development in other systems.
4 citations
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November 2022 in “Acta dermato-venereologica” People with hidradenitis suppurativa often have lower vitamin D levels, weaker hip bones, and altered bone metabolism markers.
April 2018 in “Journal of Investigative Dermatology” High amphiregulin in the skin is a bad sign for acute graft-versus-host disease.
296 citations
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October 2018 in “General and Comparative Endocrinology” Hair cortisol is a reliable way to measure long-term stress in animals.
52 citations
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May 2006 in “Journal of Structural Biology” Keratin-associated proteins help link filaments and affect keratin's strength.
July 2025 in “Scientific Reports” Six key genes can predict bladder cancer outcomes and may serve as prognostic biomarkers.
23 citations
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July 2003 in “Journal of Investigative Dermatology” Genetic testing for hairless gene mutations is crucial to correctly diagnose and treat atrichia with papular lesions.
140 citations
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October 2008 in “Nature Genetics” 3 citations
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January 2005 in “Photochemistry and Photobiology” Protein kinase C epsilon may promote skin cancer development after UV exposure by affecting nearby cells.
December 2025 in “International Journal of Surgery” GBP1 is a key target for treating Epstein-Barr virus-related kidney cancer, and finasteride may help.
49 citations
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March 2004 in “Journal of Investigative Dermatology” The hHa7 gene is regulated by androgens in certain body hair, not scalp hair.
January 2023 in “Brazilian Journals Editora eBooks” HPLC may detect prediabetes and diabetes earlier than Immunoturbidimetry because it shows higher A1c levels.
10 citations
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September 2021 in “American Journal of Medical Genetics Part A” Woodhouse-Sakati syndrome shows varied symptoms, including hair loss and diabetes, and is common in Qatar due to a specific genetic variant.
December 2024 in “European journal of medical research”
6 citations
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May 2021 in “Stem Cell Reviews and Reports” Newly found stem cells in horse hooves show promise for treating a hoof disease called laminitis.
December 2022 in “American journal of medical genetics. Part A” A person got uncombable hair syndrome from two copies of chromosome 1 from their mother.
18 citations
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July 2014 in “Molecular Medicine Reports” UVB radiation changes the levels of certain microRNAs in skin cells, which may affect cell survival and hair growth.
19 citations
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March 2017 in “Scientific Reports” HAT-L4 is crucial for preventing body fluid loss by maintaining skin barrier integrity.
January 2025 in “Frontiers in Immunology” IVIG therapy significantly improved symptoms in a patient with APS-2 and SPS.
14 citations
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February 2022 in “Journal of Pain and Symptom Management” HIV symptoms often occur together and cause similar distress.
Mechanical stress causes ligament thickening through WISP-1 and Hedgehog signaling.
40 citations
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December 2010 in “Human Genetics” July 2022 in “British Journal of Dermatology”
47 citations
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December 2019 in “Frontiers in immunology” A new mutation in the STING protein causes a range of symptoms and its severity may be affected by other genetic variations; treatment with a specific inhibitor showed improvement in one patient.
April 2023 in “Cancer research” KRTAP2-3 could help predict cancer recurrence by identifying specific cancer cells.