COPB2 loss of function causes a coatopathy with osteoporosis and developmental delay.
暂无分享,去创建一个
David R. Murdock | Lisa T. Emrick | Alyssa A. Tran | Denise G. Lanza | Jason D. Heaney | J. Rosenfeld | B. Dawson | R. Gibbs | M. Westerfield | M. Dickinson | J. Seavitt | D. Muzny | S. Jhangiani | Mahim Jain | M. Shinawi | V. Sutton | G. Mirzaa | L. Burrage | Brendan H. Lee | D. Eyre | Yuqing Chen | N. Hanchard | B. Blanco-Sánchez | A. Clément | R. Marom | J. Heaney | R. Stottmann | D. Scott | D. Murdock | M. D. De Matteis | Shan Chen | I-Wen Song | M. Jiang | K. Joeng | A. Calder | J. Wegner | L. Emrick | M. Weis | I. Grafe | C. Devile | J. Allgrove | Yi-Chien Lee | J. Phillips | Rowenna Roberts | N. Mehta | Joseph M. Sliepka | John Hicks | Tashunka Taylor-Miller | Rossella Venditti | Xiaohui Li | Dominyka Batkovskyte | M. Washington | Zixue Jin | G. Zapata | Abbey Scott | Brenna A. Tremp | Nitesh R. Mehta | Abbey A. Scott | T. Taylor‐Miller | Bernardo Blanco-Sánchez | D. Muzny | Ronit Marom | Abbey A Scott
[1] G. Patterson,et al. COPII collar defines the boundary between ER and ER exit site and does not coat cargo containers , 2021, The Journal of cell biology.
[2] J. Lippincott-Schwartz,et al. ER-to-Golgi protein delivery through an interwoven, tubular network extending from ER , 2021, Cell.
[3] G. Pals,et al. Interaction between KDELR2 and HSP47 as a Key Determinant in Osteogenesis Imperfecta Caused by Bi-allelic Variants in KDELR2. , 2020, American journal of human genetics.
[4] J. Lippincott-Schwartz,et al. Mechanisms of procollagen and HSP47 sorting during ER-to-Golgi trafficking. , 2020, Matrix biology : journal of the International Society for Matrix Biology.
[5] D. Earl,et al. Defining the clinical phenotype of Saul-Wilson syndrome. , 2020, Genetics in Medicine.
[6] E. Knapik,et al. Phenome-based approach identifies RIC1-linked Mendelian syndrome through zebrafish models, biobank associations, and clinical studies , 2019, Nature Medicine.
[7] Ryan L. Collins,et al. The mutational constraint spectrum quantified from variation in 141,456 humans , 2020, Nature.
[8] B. Blaauw,et al. Ascorbic acid route to the Endoplasmic reticulum: function and role in disease. , 2019, Antioxidants & redox signaling.
[9] J. Bonifacino,et al. Coatopathies: Genetic Disorders of Protein Coats. , 2019, Annual review of cell and developmental biology.
[10] V. Malhotra,et al. Biallelic TANGO1 mutations cause a novel syndromal disease due to hampered cellular collagen secretion , 2019, bioRxiv.
[11] Z. Tomková,et al. The unfolded protein response controls endoplasmic reticulum stress-induced apoptosis of MCF-7 cells via a high dose of vitamin C treatment , 2019, Molecular Biology Reports.
[12] M. Tassabehji,et al. GORAB scaffolds COPI at the trans-Golgi for efficient enzyme recycling and correct protein glycosylation , 2019, Nature Communications.
[13] P. Gressens,et al. Golgipathies in Neurodevelopment: A New View of Old Defects , 2019, Developmental Neuroscience.
[14] R. LaPrade,et al. Efficacy of Vitamin C Supplementation on Collagen Synthesis and Oxidative Stress After Musculoskeletal Injuries: A Systematic Review , 2018, Orthopaedic journal of sports medicine.
[15] S. Kornfeld,et al. Recycling of Golgi glycosyltransferases requires direct binding to coatomer , 2018, Proceedings of the National Academy of Sciences.
[16] D. Stephens,et al. COPII-dependent ER export in animal cells: adaptation and control for diverse cargo , 2018, Histochemistry and Cell Biology.
[17] K. Djafarian,et al. Vitamin C intake in relation to bone mineral density and risk of hip fracture and osteoporosis: a systematic review and meta-analysis of observational studies , 2018, British Journal of Nutrition.
[18] Felix Campelo,et al. TANGO1 builds a machine for collagen export by recruiting and spatially organizing COPII, tethers and membranes , 2018, eLife.
[19] Barbara E. Engelhardt,et al. Erratum: Genetic effects on gene expression across human tissues , 2017, Nature.
[20] K. Sund,et al. Copb2 is essential for embryogenesis and hypomorphic mutations cause human microcephaly , 2017, bioRxiv.
[21] P. Gressens,et al. Golgi trafficking defects in postnatal microcephaly: The evidence for “Golgipathies” , 2017, Progress in Neurobiology.
[22] GTEx consortium. Genetic effects on gene expression across human tissues , 2017 .
[23] Y. Bo,et al. Dietary vitamin C intake and the risk of hip fracture: a dose-response meta-analysis , 2017, Osteoporosis International.
[24] Brendan H. Lee,et al. Pharmacological and biological therapeutic strategies for osteogenesis imperfecta , 2016, American journal of medical genetics. Part C, Seminars in medical genetics.
[25] K. Shirahige,et al. ARCN1 Mutations Cause a Recognizable Craniofacial Syndrome Due to COPI-Mediated Transport Defects. , 2016, American journal of human genetics.
[26] V. Malhotra,et al. TANGO1 recruits ERGIC membranes to the endoplasmic reticulum for procollagen export , 2015, eLife.
[27] V. Malhotra,et al. The pathway of collagen secretion. , 2015, Annual review of cell and developmental biology.
[28] D. Valle,et al. GeneMatcher: A Matching Tool for Connecting Investigators with an Interest in the Same Gene , 2015, Human mutation.
[29] P. Garnero. The Role of Collagen Organization on the Properties of Bone , 2015, Calcified Tissue International.
[30] S. Bohlander,et al. Mutations in SEC24D, encoding a component of the COPII machinery, cause a syndromic form of osteogenesis imperfecta. , 2015, American journal of human genetics.
[31] M. Sacher,et al. In Sickness and in Health: The Role of TRAPP and Associated Proteins in Disease , 2014, Traffic.
[32] M. Westerfield,et al. Complexes of Usher proteins preassemble at the endoplasmic reticulum and are required for trafficking and ER homeostasis , 2014, Disease Models & Mechanisms.
[33] Damian Smedley,et al. Improved exome prioritization of disease genes through cross-species phenotype comparison , 2014, Genome research.
[34] M. D. De Matteis,et al. Exiting the ER: what we know and what we don't. , 2014, Trends in cell biology.
[35] Simon White,et al. Launching genomics into the cloud: deployment of Mercury, a next generation sequence analysis pipeline , 2014, BMC Bioinformatics.
[36] F. Brandizzi,et al. Organization of the ER–Golgi interface for membrane traffic control , 2013, Nature Reviews Molecular Cell Biology.
[37] Thomas R. Gingeras,et al. STAR: ultrafast universal RNA-seq aligner , 2013, Bioinform..
[38] V. Malhotra,et al. Sedlin Controls the ER Export of Procollagen by Regulating the Sar1 Cycle , 2012, Science.
[39] R. Harrison,et al. Rab GTPase Mediated Procollagen Trafficking in Ascorbic Acid Stimulated Osteoblasts , 2012, PloS one.
[40] Franck Perez,et al. Synchronization of secretory protein traffic in populations of cells , 2012, Nature Methods.
[41] Aleksandar Milosavljevic,et al. An integrative variant analysis suite for whole exome next-generation sequencing data , 2012, BMC Bioinformatics.
[42] E. Sztul,et al. COPII and COPI traffic at the ER-Golgi interface. , 2011, Physiology.
[43] Colin N. Dewey,et al. RSEM: accurate transcript quantification from RNA-Seq data with or without a reference genome , 2011, BMC Bioinformatics.
[44] Helga Thorvaldsdóttir,et al. Integrative Genomics Viewer , 2011, Nature Biotechnology.
[45] R. Gibbs,et al. Targeted enrichment beyond the consensus coding DNA sequence exome reveals exons with higher variant densities , 2011, Genome Biology.
[46] Ralph Müller,et al. Guidelines for assessment of bone microstructure in rodents using micro–computed tomography , 2010, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.
[47] B. Thisse,et al. High-resolution in situ hybridization to whole-mount zebrafish embryos , 2007, Nature Protocols.
[48] J. Christopher Fromme,et al. Cranio-lenticulo-sutural dysplasia is caused by a SEC23A mutation leading to abnormal endoplasmic-reticulum-to-Golgi trafficking , 2006, Nature Genetics.
[49] R. Chadwick,et al. Spontaneous Fractures in the Mouse Mutant sfx Are Caused by Deletion of the Gulonolactone Oxidase Gene, Causing Vitamin C Deficiency , 2005, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.
[50] Michael J. Parsons,et al. Differential requirements for COPI transport during vertebrate early development. , 2004, Developmental cell.
[51] T. Aigner,et al. Collagens--structure, function, and biosynthesis. , 2003, Advanced drug delivery reviews.
[52] R. Pepperkok,et al. Imaging of procollagen transport reveals COPI-dependent cargo sorting during ER-to-Golgi transport in mammalian cells. , 2002, Journal of cell science.
[53] J. Goldberg,et al. Comparison of proteins expressed by Pseudomonas aeruginosa strains representing initial and chronic isolates from a cystic fibrosis patient: an analysis by 2-D gel electrophoresis and capillary column liquid chromatography-tandem mass spectrometry. , 2000, Microbiology.
[54] Kishi,et al. A bone marrow‐derived stroma cell line, ST2, can support the differentiation of fetal thymocytes from the CD4−CD8−double negative to the CD4+ CD8+ double positive differentiation stage in vitro , 1999, Immunology.
[55] A. Schier,et al. Mutations affecting development of the notochord in zebrafish. , 1996, Development.
[56] D. Eyre,et al. Molecular Site Specificity of Pyridinoline and Pyrrole Cross-links in Type I Collagen of Human Bone* , 1996, The Journal of Biological Chemistry.
[57] C. Kimmel,et al. Stages of embryonic development of the zebrafish , 1995, Developmental dynamics : an official publication of the American Association of Anatomists.
[58] M. Westerfield. The zebrafish book : a guide for the laboratory use of zebrafish (Danio rerio) , 1995 .
[59] J. Rothman,et al. Binding of coatomer to Golgi membranes requires ADP-ribosylation factor. , 1993, The Journal of biological chemistry.
[60] D. Eyre,et al. Identification of cross-linking sites in bovine cartilage type IX collagen reveals an antiparallel type II-type IX molecular relationship and type IX to type IX bonding. , 1992, The Journal of biological chemistry.