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DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders.
Am J Hum Genet
January 2025
Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany; Institute of Human Genetics, University of Regensburg, 93053 Regensburg, Germany; Institute of Clinical Human Genetics, University Hospital Regensburg, 93053 Regensburg, Germany. Electronic address:
BCL11B is a Cys2-His2 zinc-finger (C2H2-ZnF) domain-containing, DNA-binding, transcription factor with established roles in the development of various organs and tissues, primarily the immune and nervous systems. BCL11B germline variants have been associated with a variety of developmental syndromes. However, genotype-phenotype correlations along with pathophysiologic mechanisms of selected variants mostly remain elusive.
View Article and Find Full Text PDFExtracellular vesicles: essential agents in critical bone defect repair and therapeutic enhancement.
Mol Biol Rep
January 2025
Pediatric Cell, and Gene Therapy Research Center Gene, Cell and Tissue Research Institute, Tehran University of Medical Sciences, Tehran, Iran.
Bone serves as a fundamental structural component in the body, playing pivotal roles in support, protection, mineral supply, and hormonal regulation. However, critical-sized bone injuries have become increasingly prevalent, necessitating extensive medical interventions due to limitations in the body's capacity for self-repair. Traditional approaches, such as autografts, allografts, and xenografts, have yielded unsatisfactory results.
View Article and Find Full Text PDFRetrospective observational cohort study of premature neonates screened for ROP with 7 years of follow-up assessing the visual outcomes and adequacy of preschool visual screening.
BMJ Open Ophthalmol
December 2024
Ophthalmology, Royal Hospital for Children, Glasgow, UK.
Background: Very premature infants screened for retinopathy of prematurity (ROP) that do not develop ROP still experience serious visual developmental challenges, and while it is recommended that all children in the UK are offered preschool visual screening, we aimed to explore whether this vulnerable group requires dedicated follow-up.
Methods: We performed a real-world retrospective observational cohort study of children previously screened for ROP in NHS Greater Glasgow and Clyde (Scotland) between 2013 and 2015. We excluded those with any severity of ROP identified during screening.
Optimized Prime Editing of Human Induced Pluripotent Stem Cells to Efficiently Generate Isogenic Models of Mendelian Diseases.
Int J Mol Sci
December 2024
Ocular Genomics Institute, Massachusetts Eye and Ear Infirmary, Department of Ophthalmology, Harvard Medical School, Boston, MA 02114, USA.
Prime editing (PE) is a CRISPR-based tool for genome engineering that can be applied to generate human induced pluripotent stem cell (hiPSC)-based disease models. PE technology safely introduces point mutations, small insertions, and deletions (indels) into the genome. It uses a Cas9-nickase (nCas9) fused to a reverse transcriptase (RT) as an editor and a PE guide RNA (pegRNA), which introduces the desired edit with great precision without creating double-strand breaks (DSBs).
View Article and Find Full Text PDFEstablishing normal interocular symmetry range for macular optical coherence tomography parameters in healthy children.
Eye (Lond)
January 2025
Poostchi Ophthalmology Research Center, Department of Ophthalmology, School of Medicine, Shiraz University of Medical Sciences, Shiraz, Iran.
Objective: The study aimed to evaluate the interocular symmetry of macular sublayer thickness among healthy children aged 6-12 years.
Methods: The Shiraz Pediatric Eye Study included 500 randomly selected children who underwent SD-OCT of the macula and optical biometry using the IOLMaster-500. Exclusion criteria involved ocular abnormalities or axial lengths outside the 21.
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