Defective protein folding due to a mutation is key in ANE syndrome.
November 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” MOF controls skin development by regulating genes for mitochondria and cilia.
29 citations
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February 2010 in “British Journal of Dermatology” Snail1 may contribute to fibrosis in frontal fibrosing alopecia in postmenopausal women.
Granzyme B accelerates skin aging and impairs healing by breaking down important skin components.
April 2019 in “Journal of Investigative Dermatology” DPP4-positive fibroblasts play a major role in producing proteins that lead to skin fibrosis.
November 2024 in “Journal of Investigative Dermatology” Genetic changes in specific proteins contribute to hair loss in some women of African descent.
40 citations
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September 2004 in “Biomacromolecules” The Glu413Lys mutation in keratin affects hair stability, while Glu413Asp does not.
January 2013 in “Wageningen Academic Publishers eBooks” Proteomics helps understand protein changes in wool fiber development.
14 citations
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April 2008 in “PROTEOMICS” Increased 14-3-3 proteins may block hair cycle regression, causing hair loss.
30 citations
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December 2011 in “Journal of biological chemistry/The Journal of biological chemistry” Keratin 17 is modified by RSK1 in response to growth and stress, affecting skin growth and stress response.
15 citations
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October 1976 in “Biochemical Journal” Naked-mouse hair lacks certain proteins and has less soluble fibril.
1 citations
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July 2015 in “Microscopy Research and Technique” Friedreich's ataxia causes thin, weak hair with surface damage and cavities.
29 citations
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October 2019 in “Journal of dermatological science” Studying premature aging syndromes helps understand human aging and suggests potential treatments.
June 2025 in “Asia-Pacific Journal of Molecular Biology and Biotechnology” Papain from papaya may help treat cardiovascular diseases by breaking down fibrin.
6 citations
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July 2021 in “Frontiers in Genetics” A gene variant causes a skin and hair disorder by disrupting protein balance.
36 citations
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July 1988 in “Archives of Dermatological Research” Pili annulati is caused by a protein metabolism disorder affecting hair structure.
Early diagnosis and treatment of frontal fibrosing alopecia are crucial to prevent permanent hair loss.
April 2019 in “Journal of Investigative Dermatology” Frontal Fibrosing Alopecia involves disrupted cholesterol pathways, fibrosis, and increased mast cells.
7 citations
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January 2023 in “Journal of Hematology & Oncology” Using protein degradation to fight cancer drug resistance shows promise but needs more precise targeting and fewer side effects.
CRISPR gene editing reduces harmful molecules in cells from Emery–Dreifuss Muscular Dystrophy patients.
2 citations
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August 1987 in “Analytical Biochemistry” A new method isolated previously undetected hair proteins rich in glycine and tyrosine.
October 2021 in “Journal of Investigative Dermatology” Skin cell strength decreases significantly as we age.
7 citations
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January 1986 in “Prenatal Diagnosis” Fetal skin biopsy can help diagnose protein-related disorders before birth.
Protein profiling of forehead skin can help distinguish between frontal fibrosing alopecia and androgenetic alopecia.
27 citations
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November 2007 in “Genomics” Mutations in specific keratin genes cause improper hair structure in mice due to faulty keratin protein assembly.
4 citations
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January 2019 in “Micron” Fetal hair follicles have melanocytes with melanosomes at different stages, which are broken down into pigment particles in keratinocytes.
April 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” RPGRIP1L helps skin cells stick together by blocking PKCβII, which can prevent skin blistering like in pemphigus.
1 citations
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May 2023 in “Frontiers in endocrinology” A new MBTPS2 gene variant disrupts fat metabolism and collagen production, causing Osteogenesis imperfecta.
9 citations
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November 2020 in “The FASEB journal” Intermediate filaments are crucial for cell differentiation and stem cell function.