26 citations
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July 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” The protein Par3 is crucial for healthy skin, affecting the skin barrier, cell differentiation, and stem cell maintenance.
September 2016 in “Journal of Dermatological Science” Björnstad syndrome causes twisted hair from birth.
April 2020 in “International journal of research in dermatology” An 8-year-old girl has a rare, irreversible hair loss condition caused by a genetic mutation.
December 2025 in “Molecules” DPP may help hair regrowth by improving blood vessel function under stress.
37 citations
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April 2010 in “FEBS Letters” The study concludes that the EDA2R gene is activated by p53 during chemotherapy but is not necessary for chemotherapy-induced hair loss.
3 citations
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October 2013 in “International Journal of Rheumatic Diseases” A young woman with severe symptoms of CPAN improved with intensive treatment but needed a leg amputation.
8 citations
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March 2010 in “The journal of investigative dermatology/Journal of investigative dermatology” The 14-3-3σ gene is essential for preventing hair loss.
23 citations
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April 2010 in “Comparative Biochemistry and Physiology Part C Toxicology & Pharmacology” The piRNA pathway genes are crucial in early development and may influence sex differentiation through hormone regulation.
December 2004 in “SUNScholar (Stellenbosch University)” Certain genetic markers can indicate a person's risk of developing prostate cancer.
3 citations
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April 2012 in “Bioinformation” Two specific SNPs in the TRPS1 gene cause excessive hair growth by altering the protein's structure.
11 citations
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February 2018 in “Oncotarget” Lower SMAD2/3 activation predicts more severe skin cancer.
November 2024 in “BMC Research Notes” SIRT3 and SIRT7 genes may play a role in hair loss.
December 2024 in “Journal of Cosmetic Dermatology” ME1 and PPAR signaling may influence hair loss in androgenetic alopecia.
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.
6 citations
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January 2015 in “Indian Dermatology Online Journal” PEODDN is a rare skin disorder with limited treatment options, best treated with laser therapy.
15 citations
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January 1991 in “Mammalian Genome” November 2022 in “Munich Personal RePEc Archive (Ludwig Maximilian University of Munich)” Phosphatidylinositol 4-kinases are crucial for root growth, defense, and immunity in Arabidopsis thaliana.
Integrating ABI screening in clinics can improve patient care for those at risk of peripheral artery disease.
26 citations
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December 2020 in “Nature metabolism” Rapamycin treatment helps with mitochondrial disease by reducing PKC levels.
11 citations
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April 2020 in “Life sciences” Pantothenic acid helps mink hair follicles grow by affecting certain cell signals.
1 citations
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October 2024 in “JCEM Case Reports” 5α-reductase deficiency can cause ambiguous genitalia and gender dysphoria, treatable with testosterone.
38 citations
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June 2018 in “Plant & cell physiology/Plant and cell physiology” Changing the amount of PLC5 in Arabidopsis affects root growth and drought resistance, with less PLC5 slowing root growth and more PLC5 improving drought tolerance but hindering root hair growth.
2 citations
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May 2007 in “Pediatrics in Review” Thorough history and examination are crucial for diagnosing genetic disorders like juvenile polyposis and hypomelanosis of Ito.
13 citations
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March 1999 in “Biochemical Journal” Overexpressing SSAT in mice makes them highly sensitive to polyamine analogues, causing liver damage and high mortality.
9 citations
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November 2013 in “Journal of Investigative Dermatology” Overexpressing CtBP1 in skin cells causes skin and hair problems.
September 2016 in “Journal of Dermatological Science” A specific mutation known for causing cancer is also found to cause a skin condition in a young girl.
January 2023 in “Indian dermatology online journal” A child with trichothiodystrophy also had autoimmune thyroiditis and anemia, which is a new finding.
48 citations
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August 1998 in “Developmental Biology” Deleting part of a gene in mice causes wavy hair and high pup loss.
4 citations
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January 2001 in “Archives of Biochemistry and Biophysics” Activated ras can protect kidney cells from a certain substance that causes cell death.
New pyridine compounds effectively inhibit GSK3, a diabetes treatment target.