The authors report two sibs with COFS syndrome and review the relevant literature in brief. They emphasize the importance of prenatal diagnosis in this syndrome that has many mimics.
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DNA repair-related heritable photosensitivity syndromes: Mutation landscape in a multiethnic cohort of 17 multigenerational families with high degree of consanguinity.
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April 2024
Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, PA, USA; Department of Dermatology and Cutaneous Biology, Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, PA, USA; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA. Electronic address:
Inherited photosensitivity syndromes are a heterogeneous group of genetic skin disorders with tremendous phenotypic variability, characterized by photosensitivity and defective DNA repair, especially nucleotide excision repair. A cohort of 17 Iranian families with heritable photosensitivity syndromes was evaluated to identify their genetic defect. The patients' DNA was analyzed with either whole-exome sequencing or RNA sequencing (RNA-Seq).
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Key Laboratory of Cryogenics Science and Technology, Technical Institute of Physics and Chemistry, Chinese Academy of Sciences, Beijing,100190, China.
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View Article and Find Full Text PDFConstructing green superhydrophilic and superoleophobic COFs-MOFs hybrid-based membrane for efficiently emulsion separation and synchronous removal of microplastics, dyes, and pesticides.
Environ Res
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Department of Eco-Environment, Hebei University, No. 180 Wusi Dong Road, Lian Chi District, Baoding City, Hebei Province, 071002, PR China; Hebei Key Laboratory of Mineral Resources and Ecological Environment Monitoring, Hebei Research Center for Geoanalysis, Baoding, 071002, Hebei Province, PR China. Electronic address:
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- This study developed a new, eco-friendly hybrid membrane (FS-50/COF(MATPA)-MOF(Zr)/PDA@PVDF) to effectively address oil spills and micropollutants, utilizing a combination of structured materials through a two-step synthesis method.
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Recent advances in fluorescence-based chemosensing of organoarsenic feed additives using luminescence MOFs, COFs, HOFs, and QDs.
Chem Commun (Camb)
September 2023
Department of Chemistry, Indian Institute of Technology Palakkad, Palakkad 678557, Kerala, India.
Organoarsenics are low-toxicity compounds that are used widely as feed additives to promote livestock growth, enhance meat pigmentation, and fight against intestinal parasites. The organoarsenic compounds are commonly found in poultry waste and the degradation of organoarsenic produces the toxic carcinogen inorganic arsenic such as As(V) and As(III), which results in severe arsenic pollution of soil and groundwater. As a consequence, there exists a high necessity to develop suitable sensing methods for the trace detection and quantification of organoarsenic feed additives in wastewater.
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