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June 2012 in “PloS one” A new mRNA variant of the SCF gene in sheep skin produces a shorter, different protein.
April 2017 in “Journal of Investigative Dermatology” Targeted siRNA therapy may be a promising treatment for KID syndrome by reducing mutant gene expression and improving cell communication.
August 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” Normal cells outcompete and remove mutant cells in the pancreas with the help of the EphA2 receptor.
April 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” Disrupting the Tsc2 gene in certain cells leads to thicker skin, larger hair, and changes in hair growth signaling, which can be partly reversed with specific treatment.
April 2019 in “Journal of Investigative Dermatology” FGFR2 signaling controls Merkel cell formation in different skin regions.
October 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” Desmoglein 3 is important for keeping hair follicle stem cells inactive and maintaining their special properties.
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June 1998 in “The Journal of Clinical Endocrinology & Metabolism” KGF and its receptor are found in enlarged prostate tissue and KGF strongly increases cell growth.
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October 2016 in “Epilepsia” 2-DG reduces seizures by enhancing brain inhibition through specific receptor activation.
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May 1995 in “Proceedings of the National Academy of Sciences” A specific gene region can control targeted and responsive gene expression in mice, useful for skin disorder treatments.
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February 2001 in “Proceedings of the National Academy of Sciences” A specific DNA region controls skin cell gene expression by working with certain proteins.
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October 2018 in “JCI Insight” Entospletinib effectively prevents eye and skin GVHD in mice.
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September 2000 in “Journal of Biological Chemistry” GKLF/KLF4 and Sp1 control Keratin 19 gene activity, influencing cancer-related changes.
September 2021 in “Research Square (Research Square)” Not having enough or having too much of the protein Grainyhead-like 3 leads to various developmental problems.
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August 2006 in “Molecular and Cellular Biology” EGF signaling affects gene expression in skin cells, influencing hair growth and potentially cancer.
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May 2022 in “International journal of molecular sciences” Faulty LEF1 activation causes faster skin cell differentiation in premature aging syndrome.
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February 2013 in “Journal of Biological Chemistry” LGR5 mainly stays inside cells, moving to the trans-Golgi network, and this process is important for its role in cell signaling.
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March 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” The Notch signaling pathway helps in mouse hair development through a noncanonical mechanism that does not rely on RBPj or transcription.
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April 2010 in “Digital WPI” CLK1 is needed for skin cells to become epidermal cells but not sebocytes.
Keratinocytes can reverse the effects of the GNAQ oncogene, inhibiting melanoma cell growth.
January 2022 in “International journal of dermatology and venereology” A Chinese man with KID syndrome had a new mutation in the GJB2 gene.
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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May 1997 in “Journal of Biological Chemistry” The human keratin 6a gene's specific sequences trigger expression in skin layers after injury.
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December 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” Sox9 levels in brain stem cells affect whether they stay as stem cells or become neurons.
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April 2006 in “Brain Research” 5α-reduced neurosteroids may help regulate glial cell differentiation.
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March 2023 in “Frontiers in Cardiovascular Medicine” A specific gene variant is linked to heart disease, increased heart muscle, curly hair, and thick skin on palms and soles.
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July 2004 in “Molecular Medicine” Certain defective glucocorticoid receptor mutants move faster inside cell nuclei and work less effectively.