42 citations
,
July 2015 in “PLoS ONE” This study presents the first detailed 3D models of the complete K1/K10 keratin dimer and identifies structural features and interactions that may inform understanding of keratin filament assembly.
June 2024 in “Synthetic and systems biotechnology” In this study, researchers identified a collagen fragment, sample-1707, expressed in E. coli, which forms nanofibers and promotes blood clotting, osteoblast differentiation, and skin cell regeneration, making it a promising biomaterial for skin care, with a large-scale production yield of 600 mg/L.
3 citations
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December 2021 in “Frontiers in endocrinology” In this study, a novel DCAF17 gene mutation was identified in a Chinese family, suggesting a potential role in pancreatic β cell dysfunction and diabetes development in Woodhouse-Sakati syndrome.
3 citations
,
November 2021 in “Protein and Peptide Letters” This review discusses the structural and functional aspects of β-thymosin in invertebrates and reports no new experimental findings.
29 citations
,
August 1999 in “Journal of Investigative Dermatology” New mutations in hair keratin genes cause the rare hair disorder monilethrix.
6 citations
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February 2021 in “Proteins” This study provides insight into the specific disulfide bond interactions between keratins and keratin associated proteins, suggesting non-random cysteine interactions crucial for stabilizing hair fiber structure.
16 citations
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July 2021 in “American Journal of Medical Genetics Part A” This study identified novel LSS mutations implicated in hypotrichosis simplex with or without neurodevelopmental abnormalities, highlighting the need for careful evaluation of synonymous mutations' potential pathogenic effects.
47 citations
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April 2000 in “Experimental Dermatology” This study identified a novel missense mutation in the hairless gene in a Polish family, which may contribute to congenital atrichia with papular lesions by affecting the gene's function.
3 citations
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January 1984 January 1998 in “Differentiation” Basonuclin is crucial for hair follicle development and cycling in mice.
A new mutation in the TRPS1 gene caused Trichorhinophalangeal syndrome in a 17-year-old, highlighting the need for genetic testing.
14 citations
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September 1999 in “Mammalian genome” In this study, researchers generated a mouse mutation called scraggly, related to hair and skin defects, and mapped it to a genetic location on mouse Chromosome 19 distinct from similar mutations.
14 citations
,
January 2005 in “Cell Stress and Chaperones” 16 citations
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April 2024 in “Proceedings of the National Academy of Sciences” This study found that selectively targeting HDAC4 and HDAC7 in mice can reduce Th17 cell-mediated intestinal inflammation, suggesting a potential treatment approach for Th17-related inflammatory diseases like ulcerative colitis.
46 citations
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November 2007 in “Gene Expression Patterns” This study observed that Trps1 gene expression in mice is precisely regulated in skin development, particularly during hair follicle morphogenesis, with distinct localization patterns in different cell types.
May 2021 in “FEBS open bio” This issue information abstract introduces a collection of articles, including one on hair keratins' unique filament formation, without reporting new experimental findings itself.
245 citations
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January 1998 in “Genes & Development” This study found that Hoxc13 mutations in mice cause defects in hair, nail, and tongue structures, with the most noticeable issue being brittle hair leading to alopecia.
January 2019 in “Columbia Academic Commons (Columbia University)” This study used cryo-electron microscopy to reveal the structural mechanisms by which TRPV6 and TRPV3 ion channels open, close, and are regulated, providing insights for potential future research.
70 citations
,
February 2016 in “EMBO reports” This study identified a subtype of itch-sensing neurons in mice, which express Ret and somatostatin, and found that their ablation reduces scratching induced by certain pruritogens.
3 citations
,
January 2016 In this study, NuMA's microtubule-binding domain was found to be crucial for correct spindle orientation and skin differentiation, with its loss leading to neonatal lethality in mice.
May 2018 in “The journal of immunology/The Journal of immunology” This study identified that patients with compound heterozygous mutations in FOXN1 exhibited severe T-cell lymphopenia but retained normal hair and nail development, indicating a distinct clinical phenotype from classic FOXN1 cases.
This study uncovered how Staphylococcus hominis transports an odor precursor molecule, potentially leading to new ways to control body odor production in humans.
186 citations
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December 2012 in “Current opinion in cell biology” This review discusses the recent advancements in understanding how keratins influence cytoarchitecture, cell dynamics, and disease processes but reports no new clinical results; the authors highlight its roles in development and diseases like cancer.
November 2024 in “Communities in ADDI (University of the Basque Country)” Antisense oligonucleotides show promise for treating Myotonic Dystrophy type I.
October 2014 in “Dialnet (Universidad de la Rioja)” This research concluded that Snail2's absence in myeloid progenitors promotes tumor progression in mice, and specific zinc fingers are crucial for Snail1 and Snail2's roles in establishing epithelial-to-mesenchymal transition.
694 citations
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April 2000 in “Nature genetics” This study found that Msx2-deficient mice exhibit skull and bone formation defects similar to those seen in human MSX2-related conditions, highlighting the gene's importance in skeletal and organ development.
188 citations
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June 1998 in “Molecular cell” This study found that mimicking the XPD point mutation in mice resulted in trichothiodystrophy-like symptoms, supporting the role of basal transcription and DNA repair defects in the disease.
1 citations
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January 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that knocking out vinculin in mouse skin disrupts bulge stem cell quiescence by impairing force generation and mechanical stability of adherens junctions.
57 citations
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August 2002 in “American Journal Of Pathology” Cathepsin L deficiency causes hair and skin issues in mice.
2 citations
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May 2011 in “Pigment Cell & Melanoma Research” In this study, Tanimura et al. reported that loss of collagen XVII in mice leads to hair loss and pigmentation defects, potentially due to impaired TGF-beta signaling affecting melanocyte stem cell maintenance.