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November 2021 in “Signal Transduction and Targeted Therapy” The JAK/STAT pathway is important in cell processes and disease, and JAK inhibitors are promising for treating related conditions.
450 citations
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January 2005 in “The journal of investigative dermatology/Journal of investigative dermatology” Hair color is determined by melanin produced and transferred in hair follicles.
346 citations
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April 2020 in “Frontiers in Oncology” EMT and metabolic pathways help cancer cells resist treatment and spread.
344 citations
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May 2018 in “EMBO journal” Phosphorylation controls TFEB's location in the cell, affecting cell metabolism and stress response.
305 citations
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March 2008 in “AJP Endocrinology and Metabolism” SSAT is a key enzyme affecting cell growth and metabolism, with potential but risky use in disease treatment.
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January 2001 in “Journal of Biological Chemistry” Tgm2 helps stabilize dying cells and aids fibroblast attachment to the extracellular matrix.
231 citations
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October 1999 in “Journal of Clinical Investigation” Activating the Sonic hedgehog gene in mice can start the hair growth phase.
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November 2008 in “Expert Review of Endocrinology & Metabolism” Biotin and biotinidase are essential to prevent health issues, and deficiencies require lifelong supplementation.
166 citations
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July 1999 in “American Journal Of Pathology” The hairless (hr) gene is essential for normal hair follicle function and its mutation leads to hair loss.
163 citations
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October 2001 in “EMBO journal” Overexpressing follistatin in mice delays wound healing and reduces scar size.
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December 2002 in “Journal of Investigative Dermatology” Thyroid-related genes are active in skin cells and may affect autoimmune conditions.
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November 2017 in “Development” Fibroblast Growth Factors (FGFs) are important for tissue repair and regeneration, influencing cell behavior and other factors involved in healing, and are crucial in processes like wound healing, bone repair, and hair growth.
148 citations
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May 2012 in “The American Journal of Human Genetics” Cantú syndrome is caused by mutations in the ABCC9 gene.
143 citations
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May 2017 in “Nature cell biology” Wounded skin cells can revert to stem cells and help heal.
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July 2014 in “Proceedings of the National Academy of Sciences of the United States of America” FGF5 gene mutations cause unusually long eyelashes by affecting hair growth regulation.
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June 2016 in “Nature Neuroscience” Zeb2 is crucial for nerve repair by controlling Schwann cell function.
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April 2020 in “American Journal Of Pathology” Skin aging is a complex process influenced by various factors, leading to wrinkles and sagging, and should be considered a disease due to its health impacts.
119 citations
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November 2016 in “American journal of human genetics” Mutations in three genes cause Uncombable Hair Syndrome, leading to frizzy hair that can't be combed flat.
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September 2021 in “BMC Biology” Key genes and factors crucial for hair follicle development and wool traits in Merino sheep were identified.
101 citations
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October 2007 in “Journal of Biological Chemistry” Reduced matriptase activity causes skin and hair issues in both humans and mice.
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October 2008 in “Journal of Investigative Dermatology” Mutations in the ST14 gene cause skin and hair issues by disrupting important protein processing.
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March 2019 in “Frontiers in immunology” Damaging mutations in NFKB2 cause a severe and distinct form of primary immunodeficiency with early-onset and often ACTH-deficiency.
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August 2004 in “Physiological Genomics” Dermal papilla cells help skin stem cells grow into hair.
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December 2003 in “Journal of Biological Chemistry” Epiprofin helps cells grow in developing teeth, hair, and limbs.
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March 2008 in “Journal of Cell Science” The mutation causing Hutchinson-Gilford progeria syndrome leads to severe skin problems and early death in mice.
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October 1998 in “The American Journal of Human Genetics” A specific gene mutation causes complete hair loss in an Irish Traveller family.
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February 2016 in “Veterinary pathology” Progeroid mouse models show signs of early aging similar to humans, helping us understand aging better.
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March 2006 in “Journal of Investigative Dermatology” Mutations in the DSG4 gene cause specific hair and scalp issues.
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May 2012 in “Journal of Investigative Dermatology” A specific gene mutation causes woolly hair and hair loss.