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July 2020 in “European Journal of Human Genetics” The guidelines ensure accurate genetic testing and reporting for 21-hydroxylase deficiency.
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September 2018 in “American Journal of Medical Genetics Part A” A new genetic mutation in the ODC1 gene causes developmental delay and other symptoms in a young girl.
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February 2014 in “Journal of Investigative Dermatology” Researchers developed a mouse model that tracks hair growth using bioluminescence, improving accuracy in studying hair cycles.
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January 2025 in “Frontiers in Pharmacology” Multiomics helps understand and improve skin healing and repair.
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April 2024 in “Life Medicine” Standardizing and engineering organoids can improve their use in medicine and drug testing.
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January 2022 in “Journal of Infection” Some early COVID-19 mutations in patients predicted future common virus mutations.
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November 2014 in “Cell Stem Cell” New single-cell analysis techniques are improving our understanding of stem cells and could help in treating diseases.
January 2021 in “Research Square (Research Square)” Chinese fine-wool sheep have genetic variations linked to traits like milk and health, with some genes under strong selection.
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October 2022 in “Frontiers in Surgery” Proteomics combined with other technologies can lead to a better understanding of skin diseases.
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August 2024 in “Journal of Animal Science and Biotechnology/Journal of animal science and biotechnology” Single-cell transcriptomics helps improve animal health and productivity by studying gene expression in individual cells.
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November 2018 in “American Journal of Medical Genetics Part A” ODC1 gene mutations cause a neurodevelopmental disorder with large head size, hair loss, and facial abnormalities.
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January 2022 in “BIO-PROTOCOL” The protocol allows easy imaging of dividing cells in C. elegans and can be used for other organisms.
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November 2022 in “Cell Death and Disease” CEP135 may predict cancer outcomes, and targeting PLK1 could help treat certain sarcomas.
July 2025 in “PNAS Nexus” A new tool accurately identifies human cornea cell states and key factors.
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June 2021 in “British Journal of Dermatology” The BIOMAP glossary standardizes data to improve research on atopic dermatitis and psoriasis.
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June 2024 in “Frontiers in Genetics” About 50% of 46, XY DSD cases lack a genetic diagnosis, but advanced sequencing methods improve detection.
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November 2005 in “Forensic Science International” BioPlex-11 improves DNA profiling from telogen hair roots in forensic work.
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December 2018 in “Bone” Removing a methyl group from the ITGAV gene speeds up bone formation in a specific type of bone disease model.
1 citations
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February 2016 in “Cell Transplantation” Hair follicles have a more inactive cell cycle than other skin cells, which may help develop targeted therapies for skin diseases and cancer.
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October 2017 in “Circulation” A new technology showed that the SOX9 gene might control heart scar formation after injury, suggesting new treatment possibilities.
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May 2019 in “European Journal of Human Genetics” BMP4-related anomalies can cause a wide range of eye, brain, and hand/foot problems, and new cases show this variability.
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June 2020 in “Journal of Investigative Dermatology” 3D imaging of skin biopsies offers better accuracy but is time-consuming and can't clear melanin.
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May 2023 in “Veterinary Pathology” Understanding genetic variations in mice is crucial for studying skin, hair, or nail abnormalities.
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October 2025 in “Scientific Reports” Sonidegib and vismodegib have different side effects and reporting patterns.