1 citations
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March 2023 in “Frontiers in Cardiovascular Medicine” A specific gene variant is linked to heart disease, increased heart muscle, curly hair, and thick skin on palms and soles.
15 citations
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January 1991 in “Mammalian Genome”
June 2024 in “British Journal of Dermatology” KRT14 gene variants cause dermatopathia pigmentosa reticularis, affecting nails, teeth, and hair.
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.
April 2026 in “npj Parkinson s Disease” VPS13C variants are linked to more severe REM sleep disorder and faster progression to Parkinson's disease.
75 citations
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July 2016 in “New phytologist” The protein RSL4 is crucial for making root hairs longer by controlling genes related to cell growth.
5 citations
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December 2017 in “The Journal of Dermatology” A new gene mutation caused a man's rare skin condition, Schöpf-Schulz-Passarge syndrome.
12 citations
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June 2020 in “Frontiers in Cell and Developmental Biology” The PP2A-B55α protein is essential for brain and skin development in embryos.
14 citations
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March 2022 in “Plant Cell & Environment” The protein AtRXR3 limits root hair growth in Arabidopsis, affecting phosphorus uptake.
January 2025 in “Case Reports in Genetics” A rare gene variant causes sexual development issues in siblings, needing personalized treatment.
October 2023 in “Psychiatry research. Case reports” A new HRAS gene variant may cause a range of symptoms including intellectual disability and psychiatric issues.
25 citations
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September 2005 in “Journal of the American Academy of Dermatology” Rapp-Hodgkin syndrome, AEC, and EEC are different expressions of the same genetic disorder caused by TP63 gene mutations.
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May 2025 in “Cell Reports Medicine” RSPO1 could help create new diabetes treatments by increasing pancreatic β cells.
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November 2011 in “Development” Trps1 is essential for proper hair follicle development.
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January 1992 in “DNA sequence” Researchers found a non-functional sheep keratin gene due to mutations.
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June 2022 in “European journal of human genetics” A new type of pachyonychia congenita linked to a specific keratin gene mutation was found in two Pakistani families.
9 citations
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March 2018 in “European journal of dermatology/EJD. European journal of dermatology” A new mutation in the ST14 gene causes a rare skin and hair disorder in a specific family.
2 citations
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June 2024 in “Frontiers in Plant Science” LLPS is crucial for RALF signaling, aiding plant growth and stress resilience.
July 2024 in “Journal of Investigative Dermatology” CRISPR/Cas9 and prime editing can potentially fix skin disorder genes safely and effectively.
July 2024 in “British journal of dermatology/British journal of dermatology, Supplement” A variant in the KRT31 gene causes a rare hereditary hair disorder called monilethrix.
27 citations
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August 2018 in “Frontiers in Plant Science” High levels of auxin increase root hair growth by activating RSL2 and producing ROS, while high phosphate levels hinder growth by repressing RSL2.
7 citations
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September 2024 in “PLANT PHYSIOLOGY” RALF22 is essential for root hair growth in response to fungal emissions in Arabidopsis.
11 citations
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August 2010 in “Developmental neurobiology” Ptprq has multiple forms that change during inner ear development.
February 2024 in “Plant Cell Reports” AtVPS29 is essential for proper plant growth by regulating gibberellin signaling.
50 citations
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December 2005 in “European Journal of Immunology” RXRα is crucial for proper immune response and links diet to immune function.
117 citations
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August 1999 in “Nature Genetics” 37 citations
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September 2008 in “Plant Signaling & Behavior” OsPHR2 gene in rice enhances root growth and phosphorus accumulation.
January 2022 in “Mammalian Genome” The wavy coat in NCT mice is caused by multiple genes, including a mutation in the Prss53 gene.