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January 2019 in “Jikken doubutsu ihou/Jikken doubutsu/Experimental animals/Jikken Dobutsu” Pigs without the Hairless gene showed skin and thymus changes, useful for studying human hair disorders.
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October 2012 in “The American Journal of Human Genetics” Mutations in the HOXC13 gene cause hair and nail development issues.
June 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” IGN genes may regulate hair growth and could be targeted for hair-loss treatments.
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December 2003 in “Experimental Dermatology” Altering the keratin 17 gene in mice hair follicles caused temporary hair issues, but changes were minimal and short-lived.
Hairlessness in mammals is due to complex genetic changes in both genes and regulatory regions.
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January 2006 in “Developmental Dynamics” Noggin gene inactivation causes skeletal defects in mice, varying by genetic background.
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March 2015 in “Nature Communications” A genetic region near the PAX1 gene is linked to a higher risk of scoliosis in females.
June 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” Scientists created cell lines to study a genetic skin disorder using CRISPR technology.
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September 2012 in “Journal of Investigative Dermatology” Scientists can mimic hair disorders by altering genes in lab-grown human hair follicles, but these follicles lack some features of natural ones.
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January 2025 in “Dermatology Practical & Conceptual” A new genetic model may improve treatment and diagnosis for certain inherited skin diseases.
January 2025 in “Repository of Digital Objects for Teaching Research and Culture (University of Valencia)” Non-coding RNAs may be key in diagnosing and treating rare skin disorders.
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December 2011 in “Journal of Investigative Dermatology” New gene identification techniques have improved the understanding and classification of inherited hair disorders.
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December 1998 in “British Journal of Cancer” Truncated hHb1 keratin may play a role in breast cancer cell transformation.
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May 1996 in “The Journal of Clinical Endocrinology & Metabolism” Different mutations in the 5 alpha-reductase-2 gene were found in affected individuals in the Dominican Republic, suggesting no common ancestry.
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February 2008 in “Stem Cells and Development” Seven genes are highly expressed in both germ-line and hematopoietic stem cells.
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January 2021 in “G3 Genes Genomes Genetics” A 195 bp duplication in the HOXC10 gene causes crests in domestic chickens.
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January 2013 in “genesis” Zfp157 is active in many mouse tissues during development and in specific adult cells.
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July 2013 in “European Journal of Oral Sciences” A new PAX9 gene mutation causes missing teeth and hair problems, but not skin or nail issues.
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January 2004 in “DNA Research” A mutation in the Sgkl gene causes defective hair growth in mice.
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April 2019 in “Gynecological Endocrinology” Certain gene variations are found in people with polycystic ovary syndrome.
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November 1993 in “Mammalian Genome” A gene mutation in mice causes permanent hair loss and skin issues.
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July 2020 in “BMC Genomics” NCBP3, SDHA, and PTPRA are the best genes for accurate goat skin research.
Defective nuclear transport may cause gene expression changes in Progeria.
April 2005 in “Journal of Investigative Dermatology” Vitamin D helps protect skin, PSORS1 gene's risk interval for psoriasis is expanded, hair follicles can be generated from mouse cells, and interferon-γ may cause pigmented skin lesions.
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August 2023 in “Trends in Cell Biology” Controlling cellular changes can enable safe rejuvenation without cancer risk.
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July 2003 in “PubMed” Lack of KSR1 stops certain skin tumors in mice.
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April 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” MendelVar is a tool that helps identify important genes by combining GWAS data with Mendelian disease information.
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October 2023 in “Frontiers in Oncology” Genomic profiling for myeloid cancers can find important inherited mutations, but it's challenging when these mutations aren't related to the patient's symptoms.