48 citations
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October 2004 in “Molecular and Cellular Biology” Mice with a specific BRCA1 mutation have a higher risk of tumors, especially in the uterus and ovaries.
7 citations
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February 2024 in “The Journal of Physiology” Reduced plakoglobin and steroid abuse increase the risk of heart rhythm issues.
48 citations
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November 1992 in “International Journal of Dermatology” Toxic epidermal necrolysis is a severe skin reaction often linked to drugs, requiring careful medication use and supportive care.
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April 2023 in “International Journal of Molecular Sciences” Botryococcus terribilis Ethanol Extract may reduce inflammation by changing gene expression in cells.
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July 1993 in “The journal of investigative dermatology/Journal of investigative dermatology” July 2025 in “Clinical Case Reports” A new genetic mutation in the TRPS1 gene causes Trichorhinophalangeal Syndrome, leading to specific hair, dental, and bone issues.
January 2026 in “American Journal of Medical Genetics Part A” A new genetic variant causes trichothiodystrophy in two brothers, but their mother may carry it without showing symptoms.
December 2025 in “Zenodo (CERN European Organization for Nuclear Research)” Chyavanaprasam K Tab is a safe, sugar-free Ayurvedic supplement for diabetics that boosts immunity and supports health.
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June 2010 in “The Journal of Dermatology” Infants with severe KID syndrome may be more prone to serious infections and need close monitoring.
75 citations
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March 2007 in “Journal of Biological Chemistry” QSOX enzymes help form protein bonds in cells, especially in tissues with high secretory activity.
December 2021 in “Black sea journal of health science” Valproic acid can cause a rare allergic reaction leading to fluid around the lungs and heart, which is treatable by changing medication.
53 citations
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January 2017 in “Skin appendage disorders” Botulinum toxin shows promise for various skin conditions but requires more research for confirmation and standardized use.
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March 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” ATP increases melanin production in skin after UV exposure, with the P2X7 receptor being crucial for this process.
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December 1999 in “Journal of Investigative Dermatology” Mutations in the hHb6 gene cause the hair disorder monilethrix.
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September 2022 in “Human genomics” Key genes and pathways involved in thyroid eye disease were identified, aiding potential treatment and diagnosis.
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October 2017 in “Dermatologic Surgery” Men need higher doses and tailored injection techniques for botulinum toxin treatments due to their unique facial features.
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June 2009 in “Clinical Toxicology” Polonium poisoning is diagnosed by detecting it in urine and feces, and treated with supportive care, infection prevention, and chelation therapy.
January 2013 in “International Journal of Trichology” Early diagnosis and a multidisciplinary approach are crucial for children with Trichothiodystrophy and hidden learning disorders.
Defective protein folding due to a mutation is key in ANE syndrome.
October 2011 in “Journal of dermatology” A man with a rare skin condition and a new gene mutation developed high calcium levels due to his treatment.
May 2022 in “International Journal for Research in Applied Science and Engineering Technology” Eclipta prostrata has potential as a natural antibiotic.
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August 2009 in “Nature Genetics” Removing both Atr and Trp53 genes in adult mice causes severe tissue damage and death due to DNA damage.
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February 2012 in “Clinical Neurology and Neurosurgery” Dystonia may be part of PAS-4 and linked to immune issues.
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July 2004 in “Molecular genetics and genomics” A new mouse mutation causes skin and hair defects due to a gene change.
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July 1997 in “The Lancet” Scientists found a new protein, AMY117, common in Alzheimer's patients, which could be important for treatment and diagnosis.
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December 2011 in “Journal of Dermatological Science” The C-terminal tail of AHF/trichohyalin is essential for organizing keratin filaments in keratinocytes.
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June 2010 in “Biological Chemistry” Cathepsin L deficiency causes large, abnormal cell structures and health issues in mice.
The data suggests that dosing differences can help manage spasticity in patients with upper motor neuron dysfunction.
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October 2018 in “Journal of molecular and cellular cardiology/Journal of Molecular and Cellular Cardiology” The gene NM_026333 slows down aging by affecting the NCX1 pathway and could be targeted for anti-aging treatments.
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November 2018 in “Medicinal Chemistry” The compound GD-23 may reduce anxiety like diazepam by targeting the TSPO receptor.