1 citations
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January 2012 In this study, the researchers cloned and analyzed the CRABP I gene in Inner Mongolian cashmere goats, finding its highest mRNA expression at 90 days in embryo skin compared to later stages.
December 2024 in “Kırıkkale Üniversitesi Tıp Fakültesi Dergisi” This study found that chromosomal microarray analysis identified copy number variations in 12% of patients with dysmorphic features and congenital anomalies, demonstrating its potential as a diagnostic tool, especially for rare CNVs and immune deficiency linked to the deletion of CTLA4.
November 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” In this case study, a 26-year-old female with PLEC mutations and features of muscular dystrophy and myasthenia gravis showed significant improvement in symptoms following steroid treatment.
April 2018 in “Journal of Investigative Dermatology” This study found that deleting all three Desmoglein 1 genes in mice led to impaired skin barrier function, disorganized epidermis, and postnatal lethality, highlighting Dsg1's essential role in epidermal development and maintenance.
15 citations
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December 2014 in “PLoS ONE” This study identifies iRhom2 as a crucial regulator of hair follicle differentiation, showing that the iRhom2Uncv mutation leads to dysplasia and reduced TACE maturation, resulting in a hairless phenotype in mice.
December 2024 in “Genome Biology and Evolution” This study found that the Florida worm lizard has lost certain genes associated with claw development, which are present in other lizard species with claws, suggesting a link between the evolution of their limbless body and the loss of claw-related genes.
5 citations
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September 2024 in “Stem Cell Research & Therapy” This study found that stem cell transplantation effectively reduced acute inflammation-induced testicular damage, suggesting potential for cell-based therapies in addressing male infertility.
1 citations
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January 2025 in “Frontiers in Oncology” This review highlights REV7's crucial roles in maintaining genome stability, its implication in several cancers, and its association with poor prognoses and treatment resistance, while also noting that REV7 suppression may improve chemotherapy sensitivity.
7 citations
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September 2019 in “Journal of Cellular Physiology” In this study, Akt2 and the oncogenic protein Tcl1 were found to be essential for early blastomere proliferation and embryo development in preimplantation mouse embryos.
137 citations
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October 2009 in “The American journal of pathology” This study found that matriptase, a membrane serine protease, is crucial for maintaining multiple types of epithelial tissues in mice, with its absence leading to severe organ dysfunction and increased permeability.
4 citations
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October 2024 in “Heliyon” This study characterized the CYP154C7 enzyme from *Streptomyces* sp. PAMC26508, highlighting its ability to hydroxylate steroids efficiently, particularly androstenedione, and identified key amino acids important for substrate selectivity and catalytic efficiency.
34 citations
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September 2010 in “Clinical and Experimental Dermatology” This study identified a new heterozygous mutation in the connexin 26 gene (c.263C>T; p.Ala88Val) in a premature neonate with KID syndrome, who later died from complications.
92 citations
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March 2016 in “Developmental Cell” Zebrafish skin regeneration relies on cell behaviors and reactive oxygen species, with antioxidants reducing and hydrogen peroxide increasing regeneration.
54 citations
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April 2019 in “Journal of cellular physiology” In this study, miR-218-5p was found to enhance hair shaft growth and positively regulate the Wnt signaling pathway by targeting SFRP2 during skin and hair follicle development.
April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified intramembrane proteolysis as a key feature of Astrotactin2 maturation, providing insights into its role in planar cell polarity hair patterning.
7 citations
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October 1985 in “Genetics Research” This study found that in chimaeric mice models, the pigment distribution and pattern were influenced by the sash genotype, demonstrating the melanocyte-autonomous nature of the beige and leaden loci.
October 2020 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” This study discovered a novel mechanism by which germ stem cells exit their niche in C. elegans, involving thin membranous protrusions from adjacent somatic gonad cells.
4 citations
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May 2019 in “Zeitschrift für Naturforschung C” This study found that Ishige sinicola extract stimulated osteoblast differentiation and bone formation in MC3T3-E1 cells, suggesting potential use for osteoporosis prevention and treatment.
April 2023 in “Journal of Investigative Dermatology” This study found that KROX20 is crucial for hair follicle development and epidermal homeostasis, as its deletion in skin epithelial cells led to hair loss and increased epidermal thickness.
January 2018 in “VCU Scholars Compass (Virginia Commonwealth University)” In this study using Xenopus laevis embryos, reduced levels of the desmosomal protein desmoplakin led to defects in epidermal and cardiac structures, suggesting its crucial role in tissue integrity.
April 2016 in “Journal of Investigative Dermatology” This study found that increasing En1 expression in mouse epidermis can convert cutaneous appendages to eccrine sweat glands, suggesting a role for En1 in eccrine gland development.
30 citations
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February 2021 in “Journal of Medical Virology” This review discusses the role of the TMPRSS2 gene in SARS-CoV-2 infection susceptibility and outcomes, highlighting its differential expression in ethnic groups and potential as a target for COVID-19 treatments, but reports no new results.
32 citations
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January 2016 in “Development” This study introduced Scd3-Cre mice, which enabled sebocyte-specific manipulation, revealing that sebaceous lipid depletion impaired water repulsion, thermoregulation, and the ocular surface, resembling Meibomian gland dysfunction.
1 citations
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May 2026 in “Nature Communications” This study demonstrated that CD19-CAR T cell therapy may promote structural regeneration in the skin of systemic sclerosis patients, as evidenced by histological improvements and fibroblast population changes, suggesting its potential for tissue remodeling in fibrotic diseases.
29 citations
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October 2017 in “Journal of proteomics” This study found that specific proteins associated with fiber structure, hair growth, and fatty acid synthesis, including the DSC2 gene, may influence wool and hair characteristics in sheep and goats.
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.
June 2026 in “Frontiers in Oncology” In this study, researchers found that deficiencies in Gsdma1/2/3 significantly inhibited the initiation and progression of cutaneous squamous cell carcinoma (cSCC) in mice, suggesting GSDMA's role in promoting cSCC proliferation and its potential as a therapeutic target.
1 citations
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September 2019 in “Journal of Investigative Dermatology” In this study, researchers used a CRISPR-based method to correct mutations in the COL7A1 gene in stem cells from RDEB patients, restoring normal collagen expression in engineered skin grafts in mice.
This study suggests that the ANE syndrome mutation in yeast Nop4, analogous to human RBM28, disrupts protein folding and protein-protein interactions, contributing to ribosomal dysfunction.