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July 2017 in “Structure” FGF9 controls which receptors it binds to through a process where two FGF9 molecules join, and changes in FGF9 can lead to incorrect receptor activation.
March 2026 in “Journal of Investigative Dermatology”
2 citations
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February 2023 in “Transgenic Research” The E2 protein affects gene activity in hair follicles of mice.
August 2019 in “Anais Brasileiros de Dermatologia”
April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” HSD11b1 affects skin nerves and increases non-histaminergic itch.
5 citations
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September 2018 in “International journal of genomics” Genetic mutations that disrupt homocysteine breakdown lead to increased damage in mouse hair keratin.
April 2008 in “Expert review of dermatology” Mutations in the P2RY5 gene cause hereditary woolly hair.
3 citations
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July 2023 in “Cells” MG53 helps reduce skin damage caused by nitrogen mustard.
September 2023 in “HAL (Le Centre pour la Communication Scientifique Directe)” Peptide nanoparticles can effectively deliver CRISPR-Cas9 to target KRAS mutations in cancer.
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September 2011 in “Human molecular genetics online/Human molecular genetics” New treatments targeting specific genes show promise for treating keratin disorders.
April 2019 in “Journal of Investigative Dermatology” Researchers created a new mouse model for studying scleroderma.
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May 2024 in “BMC Medical Genomics” A new ARID1B gene variation causes Coffin-Siris syndrome 1 and early high myopia in a Chinese family.
2 citations
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June 2018 in “International Journal of Pharmacological Research” Hutchinson-Gilford Progeria Syndrome caused rapid aging due to a genetic mutation, with treatments to manage symptoms.
CRISPR gene editing reduces harmful molecules in cells from Emery–Dreifuss Muscular Dystrophy patients.
7 citations
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January 2015 in “Case reports in genetics” Using SNP array testing helped quickly find the gene causing Woodhouse-Sakati syndrome in two related individuals.
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January 2021 in “Journal of Clinical Immunology” FOXN1 mutations can cause varying immune and physical issues, with severity influenced by gene activity and possibly other factors.
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August 2008 in “Immunogenetics” A gene mutation in mice causes increased mast cells and disorganized hair follicles in their skin.
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January 1975 in “Munich Personal RePEc Archive (Ludwig Maximilian University of Munich)” Rothmund-Thomson syndrome causes skin changes, hair loss, and slightly high lysine and cystine in urine.
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March 2015 in “Journal of the European Academy of Dermatology and Venereology” A clinically suspected melanoma appeared benign under the microscope but was confirmed by specific tests and a rare mutation.
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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.
January 2017 in “Jikken doubutsu ihou/Jikken doubutsu/Experimental animals/Jikken Dobutsu” Mice with a changed Hr gene lose and regrow hair due to changes in the gene's activity.
September 2023 in “International journal of science and healthcare research” Genetic testing is crucial for diagnosing congenital atrichia, a rare condition causing irreversible hair loss.
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June 2000 in “Journal of The American Academy of Dermatology” Mutation in hairless gene may increase hair loss risk.
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August 2005 in “Journal of Investigative Dermatology Symposium Proceedings” Mutations in the DSG4 gene cause fragile, sparse hair in humans, mice, and rats.
November 2005 in “PubMed” The hairless gene in Kunming mice is important for hair and skin, and shows genetic variations.
97 citations
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March 2010 in “The American Journal of Human Genetics” A mutation in the KRT74 gene causes tightly curled hair.
April 2017 in “Journal of Investigative Dermatology” The PON1 192R gene variant is linked to a higher risk of psoriasis and heart disease in Western Mexico.
August 2015 in “International Journal of Genetics and Molecular Biology” Certain genetic markers may increase or decrease prostate cancer risk.
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May 2016 in “Biology Direct” A new method, iSiMPRe, effectively identifies key protein regions in cancer genes, highlighting potential drug targets.
April 2024 in “Anais Brasileiros de Dermatologia”