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July 2014 in “Gene” The S250C variant in a gene may cause autoimmunity and immunodeficiency by impairing protein function.
CCC1 is essential for pH balance and normal cell function in plants.
CaBP1 and CaBP2 are important for maintaining hearing by supporting continuous calcium currents and nerve signaling in the ear.
November 2022 in “Journal of Investigative Dermatology” NCSTN gene mutation causes abnormal skin cell differentiation and more inflammation, contributing to Hidradenitis Suppurativa.
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September 2014 in “PLoS ONE” SK2 channels help control sensory signals in rat muscle spindles and hair follicles.
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March 2019 in “Nature Communications” CRAC channels are crucial for the development and function of specialized immune cells, preventing severe inflammation and autoimmune diseases.
The transporter protein SH1446 in Staphylococcus hominis is key to underarm odor production.
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December 2004 in “Bioorganic & Medicinal Chemistry Letters” Scientists found new, better-working inhibitors for a hormone-related enzyme.
Sphingosine 1-phosphate affects inflammation and gene expression in different aorta cells.
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April 1999 in “Journal of Histochemistry & Cytochemistry” S100A3 protein is mainly found in specific parts of human hair cells.
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July 2024 in “JCEM Case Reports” A new genetic variant of Woodhouse-Sakati syndrome was found in two adult sisters in Russia.
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April 2024 in “The Journal of Cell Biology” Caspase-1 helps hair stem cells move to heal wounded or inflamed skin.
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December 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” The SYP123-VAMP727 complex is important for transporting materials that harden the root hair shank in Arabidopsis.
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March 2026 in “Journal of Biomedical Materials Research Part B Applied Biomaterials” The scaffold improves wound healing and tissue regeneration.
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October 2022 in “Frontiers in Physiology” Calcium channels are vital for normal skin function and their dysfunction can lead to skin issues.
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March 2018 in “The American journal of case reports” People with the same genetic mutation for Woodhouse-Sakati syndrome can have different symptoms.
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January 2014 in “Indian dermatology online journal” A newborn girl has a rare skin condition with two ulcers on her buttock that are healing on their own.
CCC1 is crucial for pH balance in plant cells, affecting growth and stress tolerance.
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April 2016 in “The Journal of Pathology” Alkaline ceramidase 1 is crucial for healthy skin and energy balance.
The scant hair in snthr-1Bao mice is likely caused by a deletion affecting the Plcd1 gene.
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July 2004 in “Journal of Biological Chemistry” Overexpressing SSAT enzyme reduces prostate tumor growth in mice.
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January 2018 Sphingosine 1-phosphate and its receptor S1PR3 are key in controlling mechanical pain.
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July 2022 in “Orphanet journal of rare diseases” RSPO1 mutations in certain patients lead to skin cells that don't develop properly and are more likely to become invasive, increasing the risk of skin cancer.
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