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June 2024 in “British Journal of Dermatology” KRT14 gene variants cause dermatopathia pigmentosa reticularis, affecting nails, teeth, and hair.
January 2013 in “edoc (University of Basel)” TRF1 is crucial for creating and maintaining stem cells and marks both pluripotent and adult stem cells.
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April 1994 in “Baillière's clinical endocrinology and metabolism” Some people have genetic mutations that make them resistant to vitamin D, leading to rickets even with enough vitamin D intake.
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November 2012 in “Stem cells” MicroRNA-302 helps improve the conversion of body cells into stem cells by blocking NR2F2.
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February 2010 in “Experimental Dermatology” The frizzy mouse and hairless rat mutations are due to changes in the Prss8 gene.
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October 2010 in “Biochemical and biophysical research communications” The Gsdma3 gene is essential for normal hair development in mice.
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July 2011 in “PubMed” TRPS1 is crucial for bone, kidney, and hair follicle development.
April 2023 in “Journal of Investigative Dermatology” RNase L suppresses regeneration in mammals.
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January 2021 in “Molecular genetics & genomic medicine” The study found two new mutations in a Chinese patient with severe biotinidase deficiency.
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June 2025 in “Gyemyeong uidae haksulji” PDRN is effective and safe for healing wounds and skin issues.
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January 2013 in “Indian dermatology online journal” Dermatopathia pigmentosa reticularis causes skin discoloration, hair loss, and nail problems.
December 2021 in “Research Square (Research Square)” Hair follicle sampling is a feasible method to measure FMRP and FMR1 mRNA levels in children.
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October 2006 in “Molecular and Cellular Endocrinology” The L457(3.43)R mutation in the human lutropin receptor causes increased activity and hormone insensitivity, leading to precocious puberty.
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November 1994 in “Developmental Biology” Retinoic acid causes gland formation instead of hair in mouse skin by altering epidermal and dermal interactions.
Deleting the MAD2L1 gene is tolerated in certain mouse cancer models.
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May 1997 in “The Journal of Clinical Endocrinology & Metabolism” MK-386 lowers DHT in blood and skin but not in semen.
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May 2015 in “Endocrinology” Manipulating 5α-reductase type 2 can affect liver fat production and glucocorticoid effects.
December 2023 in “American journal of medical genetics. Part A” A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.
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March 2024 in “Skin Research and Technology” miR-200c-3p could help diagnose and treat alopecia areata.
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July 2004 in “Molecular Medicine” Certain defective glucocorticoid receptor mutants move faster inside cell nuclei and work less effectively.
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September 2021 in “Cureus” The rs1128977 gene variant may affect cholesterol and body measurements.
April 2017 in “Journal of Investigative Dermatology” PRC1 influences skin stem cell development by both turning genes on and off, affecting hair growth and skin cell types.
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October 2022 in “Nature Communications” The DiLiCre mouse model is an effective tool for precise genome editing using light.
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May 2015 in “Molecular Neurobiology” LSD1 is crucial for regenerating hair cells in zebrafish.
Deleting the MAD2L1 gene in mice led to rapid tumor growth despite chromosomal instability.
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January 1998 in “Clinical and experimental dermatology” Myotonic dystrophy should be considered in patients with hair thinning, and genetic counseling is important.
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April 2021 in “bioRxiv (Cold Spring Harbor Laboratory)” RD26 controls root hair growth during drought by repressing key genes, helping plants save energy.