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A Novel Pathogenic Splicing Mutation of OFD1 is Responsible for a Boy with Joubert Syndrome Exhibiting Orofaciodigital Spectrum Anomalies, Polydactyly and Retinitis Pigmentosa
Published 2025-02-01“…Liang Chen,1,* Mei-Fang Zhao,2,* Hui-Wen Deng,1 Min Liao,1 Liang-Liang Fan,2 Qi-Bao Zhong,3 Jun Wang,1 Ke Li,1 Zheng-Hui Wu,4,* Jian-Yin Yin1 1Department of Anesthesiology, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, 410008, People’s Republic of China; 2Department of Cell Biology, School of Life Sciences, Central South University, Changsha, 410013, People’s Republic of China; 3Department of Facial Features, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, 410008, People’s Republic of China; 4Department of Child Rehabilitation, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, 410008, People’s Republic of China*These authors contributed equally to this workCorrespondence: Jian-Yin Yin, Department of Anesthesiology, Hunan Provincial Maternal and Child Health Care Hospital. …”
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1062
Molecular aspects of cell-penetrating peptides: key amino acids, membrane partners, and non-covalent interactions
Published 2025-01-01“…Understanding CPP translocation pathways requires interdisciplinary approaches from physical chemistry to cell biology for identifying key amino acids in the peptide sequence and membrane components, and the interactions between the two involved in the different steps of the process. …”
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1063
Small-molecule-induced ERBB4 activation to treat heart failure
Published 2025-01-01Get full text
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1066
Telomere Length in Elderly Caucasians Weakly Correlates with Blood Cell Counts
Published 2013-01-01Get full text
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1067
Isolation of Viable Follicles from Cryopreserved Human Ovarian Tissue
Published 2025-01-01Get full text
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1068
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1070
Mycobacterium avium subsp. paratuberculosis in an Italian Cohort of Type 1 Diabetes Pediatric Patients
Published 2012-01-01Get full text
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Molecular Epidemiology of SARS-CoV-2 within Accra Metropolis Postlockdown
Published 2024-01-01Get full text
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1073
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National Thalassemia Registry: a 30 year journey of implementing carrier screening in Singapore
Published 2025-02-01Get full text
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1076
GEPREP: A comprehensive data atlas of RNA-seq-based gene expression profiles of exercise responses
Published 2025-12-01Get full text
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1077
Advances in the understanding and therapeutic manipulation of cancer immune responsiveness: a Society for Immunotherapy of Cancer (SITC) review
Published 2025-01-01“…However, most patients with cancer do not benefit from the rapidly evolving improvements in the understanding of principal mechanisms determining cancer immune responsiveness (CIR); including patient-specific genetically determined and acquired factors, as well as intrinsic cancer cell biology. Though CIR is multifactorial, fundamental concepts are emerging that should be considered for the design of novel therapeutic strategies and related clinical studies. …”
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Exploiting Cancer Dormancy Signaling Mechanisms in Epithelial Ovarian Cancer Through Spheroid and Organoid Analysis
Published 2025-01-01“…Our research on EOC spheroid cell biology has provided valuable insights into the signaling plasticity associated with metastasis. …”
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