A new mutation in the TRPS1 gene caused Trichorhinophalangeal syndrome in a 17-year-old, highlighting the need for genetic testing.
28 citations
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February 2012 in “PLoS ONE” A PKP1 gene mutation causes skin fragility and hair loss in Chesapeake Bay retriever puppies.
20 citations
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January 2002 in “Laboratory Animals” Mutations in the hairless gene cause hair loss and skin cysts in rhesus macaques.
14 citations
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July 2009 in “European Journal of Gastroenterology & Hepatology” Rapunzel syndrome is more common in Asian countries and requires early diagnosis, especially in Asian girls.
218 citations
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September 2012 in “Gastroenterology” Colorectal cancer development involves both genetic changes and epigenetic alterations like DNA methylation and microRNA changes.
42 citations
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August 2022 in “Diagnostics” Diagnose PCOS in teens using irregular periods and high androgen levels, not ultrasound.
28 citations
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February 2021 in “Open Forum Infectious Diseases” African Americans faced worse COVID-19 outcomes due to a mix of social, environmental, and biological factors.
5 citations
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June 2021 in “chemistry of plant raw material” Rumex plants have potential health benefits, including antihypertensive, antiviral, antibacterial, and antitumor effects.
FemmeBalance supplement significantly improved PMS symptoms in women.
Plant-based compounds can improve wound dressings and skin medication delivery.
29 citations
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June 2005 in “Journal of Zoo and Wildlife Medicine” Most hair loss in captive rhesus macaques is likely due to environmental and behavioral factors.
1 citations
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November 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” Signals from skin cells controlled by Rac proteins help turn certain precursor cells into white fat cells.
47 citations
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September 2004 in “Journal of Biological Chemistry” Hoxc13 regulates specific hair protein genes on mouse chromosome 16.
14 citations
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July 2021 in “Bioinformatics” rPanglaoDB helps study rare cell types by merging RNA data, showing fibrocytes aid in healing.
April 2023 in “Cancer research” KRTAP2-3 could help predict cancer recurrence by identifying specific cancer cells.
13 citations
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July 2016 in “Indian Journal of Dermatology” DPR can show different hair characteristics, as seen in two brothers with normal hair.
September 2024 in “International Journal of Contemporary Pediatrics” A multidisciplinary approach is crucial for treating complex cases of Rapunzel syndrome in children.
112 citations
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August 2012 in “The American Journal of Human Genetics” Mutations in the RBPJ gene cause Adams-Oliver Syndrome.
18 citations
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February 2007 in “Journal of Investigative Dermatology” Deleting Rac1 in the skin depletes stem cells and damages hair follicles.
ERK activation spreads between cells in mouse skin, linked to cell division and influenced by TPA and EGF receptors.
September 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” New RIPK4 gene mutations were found to cause a type of skin and limb birth defect.
May 2021 in “bioRxiv (Cold Spring Harbor Laboratory)” rPanglaoDB helps study rare cell types by merging RNA data, confirming fibrocytes' role in healing.
September 2023 in “Journal of the American Academy of Dermatology”
Plakophilin 1 helps control skin cell immune responses to prevent excessive inflammation.
12 citations
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January 2013 in “Indian dermatology online journal” Dermatopathia pigmentosa reticularis causes skin discoloration, hair loss, and nail problems.
April 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” RPGRIP1L helps skin cells stick together by blocking PKCβII, which can prevent skin blistering like in pemphigus.
26 citations
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March 1995 in “Differentiation” A rabbit gene important for hair development was identified and detailed.
5 citations
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July 2022 in “Orphanet journal of rare diseases” RSPO1 mutations in certain patients lead to skin cells that don't develop properly and are more likely to become invasive, increasing the risk of skin cancer.
1 citations
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October 2012 in “The Journal of Dermatology” A Korean girl developed kinky hair without known cause or effective treatment.
84 citations
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September 2008 in “Developmental biology” Retinoic acid-binding proteins in skin are regulated by β-catenin and Notch signalling.