3 citations
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February 2020 in “The journal of gene medicine” A mutation in the HR gene causes a rare form of irreversible hair loss in two Kashmiri families. Whole exome sequencing is effective for finding such mutations.
July 2023 in “British journal of dermatology/British journal of dermatology, Supplement” HPV8 E6 gene causes growth of certain skin stem cells.
September 2022 in “JAAD case reports” The man has a genetic skin condition called pachyonychia congenita.
3 citations
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January 2022 in “Burns & Trauma” CTHRC1 helps sweat glands recover by rebuilding nearby blood vessels.
22 citations
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February 2012 in “Journal of Investigative Dermatology” A specific gene mutation causes severe skin and nail issues and hair loss.
June 2023 in “Journal of biological chemistry/The Journal of biological chemistry” Sdr16c5 and Sdr16c6 genes regulate a key point in lipid production that affects eye and skin gland function.
23 citations
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May 2013 in “Virology” HPV16 oncogenes disrupt the normal activity of hair follicle stem cells.
January 2008 in “Central South Pharmacy” A reliable method was developed to measure candesartan in human plasma.
19 citations
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August 1999 in “European journal of endocrinology” The study concluded that testing hormone levels after stimulation is not reliable for identifying carriers of 21-hydroxylase deficiency; genetic testing is necessary.
30 citations
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June 2016 in “Journal of Human Genetics” Researchers found genetic mutations causing hypohidrotic ectodermal dysplasia in 88% of studied patients and identified new mutations and genetic variations affecting the disease.
January 2011 in “Annals of dermatology/Annals of Dermatology” A woman's psoriasis improved after hepatitis C treatment with interferon, despite interferon's risk of worsening skin conditions.
62 citations
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January 2004 in “The journal of investigative dermatology/Journal of investigative dermatology” A second domain of high sulfur KAP genes on chromosome 21q23 is crucial for hair structure.
3 citations
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April 2022 in “Research Square (Research Square)” PBX1 reduces aging and cell death in stem cells by boosting SIRT1 and lowering PARP1.
13 citations
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December 2021 in “Journal of Cellular and Molecular Medicine” Exosome-enriched vesicles from placental cells improved skin condition in a patient with chronic graft-versus-host disease.
April 2025 in “Journal of Biophotonics” PBM therapy improves mitochondrial function and promotes tissue regeneration in dental pulp stem cells.
SNP rs2479106 in the DENND1A gene may increase PCOS risk in Saudi Arabian females.
July 2024 in “Journal of Rare Diseases” Woodhouse-Sakati syndrome shows varied symptoms and genetic differences within families.
1 citations
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January 2024 in “Pediatric Endocrinology Diabetes and Metabolism” Cinacalcet may help treat hereditary vitamin D resistant rickets safely.
April 2018 in “Journal of Investigative Dermatology” Cutaneous lupus patients have higher levels of certain immune cells in their blood and skin.
14 citations
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January 2005 in “Cell Stress and Chaperones” January 2025 in “Investigative and Clinical Urology” SHPro® improved urinary symptoms and erectile function in men and is safe.
January 2016 in “e-Oftalmo CBO Revista Digital de Oftalmologia” CSC is linked to mineralocorticoid receptor damage, stress, and steroid use, with treatments including drugs and laser therapies to prevent eye damage.
7 citations
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December 2014 in “Gynecological Endocrinology” LC-MS/MS is more reliable than immunoassays for diagnosing 21-hydroxylase deficiency.
September 2014 in “Archives of disease in childhood” A 12-year-old boy had severe shingles and skin damage after a stem-cell transplant.
27 citations
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June 2005 in “The journal of investigative dermatology/Journal of investigative dermatology” The study found that variations in hair protein genes are likely due to evolutionary deletions or duplications.
3 citations
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August 2022 in “Biochemical Genetics”
24 citations
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June 2012 in “BMC Research Notes” The HGCA tool helps identify genes that work together by analyzing their co-expression patterns.
February 2026 in “Advanced Science” Targeting the p300/AR axis may help treat polycystic ovary syndrome.
10 citations
,
October 2014 in “Journal of Ovarian Research” The IRS-2 Asp/Asp genotype may increase the risk of PCOS in Chinese women, especially if they are not obese.
4 citations
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July 2023 in “Frontiers in Microbiology” HGF combined with ADA is highly accurate for diagnosing tuberculous pleural effusion, especially in younger females.