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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.
January 2022 in “International journal of dermatology and venereology” A Chinese man with KID syndrome had a new mutation in the GJB2 gene.
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November 2020 in “Proceedings of the National Academy of Sciences” HoxC genes are crucial for normal hair and nail development.
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January 2025 in “Proceedings of the National Academy of Sciences” LPAR6 has a unique way of binding and activating, which helps in designing treatments for hair loss and cancer.
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May 2019 in “PLOS genetics” Mutations in the HEPHL1 gene cause abnormal hair and cognitive issues.
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November 2009 in “Archives of Dermatology” CYLD mutations cause a variety of skin tumors with symptoms starting around age 16, and treatments are currently limited.
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November 2024 in “Genes” miR-144 affects hair growth by interacting with Lhx2.
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January 2020 in “BMC Medical Genetics” A new mutation in the STS gene causes X-linked ichthyosis, even in rare female cases.
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Pvalb8 is essential for zebrafish hearing and hair cell development, and its mutation causes hearing loss.
August 2012 in “Nature Cell Biology” The tumor suppressor BRCA2 helps in cell division by bringing key proteins to the area where cells split.
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May 2004 in “Journal of Biological Chemistry” Collagen XXII is a marker for tissue junctions, aiding in structural integrity and found in muscles, heart, skin, and arthritic joints.
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March 2024 in “Developmental Dynamics” ALX4 is crucial for normal craniofacial and hair development, with specific roles in different cell types.
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January 2022 in “Clinical Immunology” Females are more prone to lupus and arthritis due to X chromosome factors.
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February 2020 in “PLOS genetics” Mice with LSS deficiency showed hair loss and cataracts, similar to humans, and can help in understanding and treating this condition.
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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.
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