41 citations
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April 2016 in “Journal of experimental botany” RACB in barley is crucial for cell polarity and nucleus positioning, aiding fungal infection.
87 citations
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March 2007 in “Biological Chemistry” Deleting the scd1 gene in mice prevents obesity by disrupting skin lipids and improving heat regulation.
July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” A patient with a PLEC mutation has epidermolysis bullosa, muscular dystrophy, and myasthenia gravis, which improved with steroid treatment.
12 citations
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August 2022 in “Stem cell reviews and reports” Increasing PBX1 reduces aging and cell death in hair follicle stem cells by boosting SIRT1 and lowering PARP1 activity.
52 citations
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November 2003 in “Journal of Investigative Dermatology” Different harmful mutations in the CDH3 gene cause HJMD, but symptoms vary among individuals.
16 citations
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September 2006 in “The Journal of Immunology” MILL molecules are unique immune proteins in mice that don't need TAP to appear on cell surfaces.
April 2010 in “Cancer Research” Mcl-1 can activate Wnt signaling in skin cells, promoting growth and possibly cancer.
11 citations
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June 2012 in “Acta histochemica” Mice with a Gsdma3 gene mutation have thicker skin and longer hair follicle openings due to increased β-catenin levels.
166 citations
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September 2011 in “The Journal of Cell Biology” p63 controls Satb1 to help skin develop properly.
6 citations
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December 2023 in “Journal of Molecular Cell Biology” Removing Gsdma1/2/3 genes reduces skin cell overgrowth by blocking a specific cell pathway.
7 citations
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November 2010 in “Genesis” Mouse Scube3 affects teeth, tongue, vibrissae, and eye development, but not facial structure or limb growth.
92 citations
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September 2013 in “Journal of Investigative Dermatology” BMAL1 and Period1 genes can influence human hair growth.
September 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” Removing Mediator 1 causes teeth cells to turn into hair cells.
4 citations
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October 2011 in “International Journal of Dermatology” Bardet-Biedl syndrome may include under-recognized skin problems related to its metabolic disturbances.
June 2023 in “British journal of dermatology/British journal of dermatology, Supplement” A girl with Becker naevus syndrome has a genetic variant in the ACTB gene related to her symptoms.
April 2024 in “Current Rheumatology Reviews” MCTD should be considered in children with recurring muscle issues, lupus-like symptoms, and edema.
38 citations
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September 1997 in “The journal of investigative dermatology/Journal of investigative dermatology” A mutation in mice causes hair loss and skin issues due to a defect in a gene affecting cell adhesion.
August 2025 in “International Journal of Contemporary Pediatrics” HLD10 can include increased body hair and Mongolian spots.
18 citations
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December 2009 in “Canadian Journal of Animal Science” The BMP2 gene is more active in the early growth phase of Cashmere goat hair and may affect hair regeneration and textile production.
November 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” Removing MCPIP1 from myeloid cells in mice leads to hair loss and prevents skin tumors but causes pigmented spots.
324 citations
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May 2002 in “Oncogene”
January 2023 in “Research Square (Research Square)” IGF2BP3 gene is up-regulated in keloid patients, suggesting potential targets for treatment.
10 citations
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November 2009 in “Pigment cell & melanoma research” The document concludes that MGRN1 affects mouse fur color by interfering with a receptor's signaling, but its full role in the body is still unknown.
178 citations
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May 2006 in “Developmental Dynamics” Jumonji genes are important for development and their mutations can cause abnormalities, especially in the heart and brain.
5 citations
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January 2017 in “Arquivos Brasileiros de Oftalmologia” A rare genetic disorder causes sparse hair and vision loss due to a CDH3 gene mutation.
2 citations
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October 1990 in “The Lancet” Some people have a genetic variation that makes them less effective at breaking down drugs.
August 2023 in “Dermatology reports” A baby with maple syrup urine disease improved from skin problems by adjusting his diet to correct amino acid levels.
1 citations
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May 2023 in “Frontiers in endocrinology” A new MBTPS2 gene variant disrupts fat metabolism and collagen production, causing Osteogenesis imperfecta.
1 citations
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January 2023 in “In vivo/In Vivo” Box A of HMGB1 can improve stem cell function, aiding anti-aging therapy.
Early biotin treatment can reverse symptoms of congenital biotinidase deficiency.