70 citations
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January 2014 in “International review of cell and molecular biology” Keratin proteins are crucial for healthy skin, but mutations can cause skin disorders with no effective treatments yet.
5 citations
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May 2021 in “EMBO journal” Cell polarity signaling controls tissue mechanics and cell fate, with complex interactions and varying pathways across species.
46 citations
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May 2018 in “The journal of investigative dermatology/Journal of investigative dermatology” The vitamin D receptor is essential for skin stem cells to grow, move, and become different cell types needed for skin healing.
2 citations
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April 2010 in “The Open Dermatology Journal” Corneodesmosin is essential for skin and hair health, and its dysfunction can lead to skin and hair disorders.
Plakophilin 1 helps control skin cell immune responses to prevent excessive inflammation.
Understanding genetics is crucial for treating heart and skin diseases.
47 citations
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January 2024 in “iScience” Stress keratins are expressed less in diseased skin and are linked to differentiation, inflammation, and immunity.
34 citations
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August 2019 in “Journal of Allergy and Clinical Immunology” mTORC2 is crucial for healthy skin barrier by regulating lipids and filaggrin.
21 citations
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July 2022 in “Orphanet journal of rare diseases” New treatments for ichthyosis, like protein replacement and gene therapy, show promise and may become standard care.
December 2025 in “The Journal of Cell Biology” Keratin 15 helps maintain skin cell growth and repair.
11 citations
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January 2010 in “Dermatology Research and Practice” Desmosomes are crucial for human skin development, increasing in density as the skin matures.
372 citations
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December 2004 in “Nature Genetics”
11 citations
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January 2018 in “Royal Society Open Science” Scientists found genes linked to the growth of high-quality brush hair in Chinese Haimen goats.
28 citations
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July 2008 in “Developmental Biology” Smad4 is important for healthy hair follicles because it helps produce a protein needed for hair to stick together and grow.
92 citations
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August 2017 in “Proceedings of the National Academy of Sciences of the United States of America” Newborn mouse skin cells can grow hair and this process can be recreated in adult cells to potentially help with hair loss.
87 citations
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September 2019 in “Nature Communications” SOX11 and SOX4 help skin cells act like embryonic cells to heal wounds in mice.
36 citations
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September 2013 in “PLoS ONE” Sweat gland stem cells help maintain glands, aid wound healing, and can regenerate skin structures.
3 citations
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December 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” The research reveals how early embryonic mouse skin develops from simple to complex structures, identifying various cell types and their roles in this process.
1 citations
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July 2023 in “Nature communications” MOF controls key genes for skin development by regulating mitochondrial and ciliary functions.
April 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” Sweat gland development involves two unique skin cell programs and a temporary skin environment.
November 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” MOF controls skin development by regulating genes for mitochondria and cilia.
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.
January 2016 in “Research Explorer (The University of Manchester)” Activating the Eda/Edar pathway improves wound healing by enhancing hair follicle growth.
8 citations
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July 2015 in “International Journal of Dermatology” A new DSG4 gene mutation causes hair defects in a young girl.
7 citations
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June 2011 in “Movement Disorders” A specific gene mutation is linked to a hereditary form of dystonia that responds well to certain medications.
2 citations
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July 2011 in “AFRICAN JOURNAL OF BIOTECHNOLOGY” Seven genetic variations in sheep's DSG4 gene are linked and affect wool traits.
7 citations
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August 2008 in “Immunogenetics” A gene mutation in mice causes increased mast cells and disorganized hair follicles in their skin.
12 citations
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July 2004 in “Molecular genetics and genomics” A new mouse mutation causes skin and hair defects due to a gene change.
13 citations
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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.
2 citations
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September 2024 in “Asian Journal of Andrology” New SRD5A2 variants may disrupt protein function, aiding diagnosis and treatment of related disorders.