ArticleAmerican journal of human genetics2021
COPB2 loss of function causes a coatopathy with osteoporosis and developmental delay.
Registry-linked trialOpen access · bronzeAbstract read
In one paragraph
Article in American journal of human genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT02450851 (Clinical and Genetic Evaluation of Patients With Undiagnosed Disorders Through the Undiagnosed Diseases Network), which is not on this map. Cited by 31 papers.
0numbers the graph read from it
0cells of the map it votes in
31citing papers in PubMed
4.5field-weighted citation impact, top 5% of its field
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Clinical and Genetic Evaluation of Patients With Undiagnosed Disorders Through the Undiagnosed Diseases Network
Who cites it
31 citing papers in PubMed, 37 citations in OpenAlex.
- The pathogenesis and intersecting mechanisms of monogenic bone mass disorders.Nature reviews. Endocrinology · 2026Review
- The Golgi apparatus: adaptations to neuronal shape and functions.The EMBO journal · 2026Review
- COPB2 facilitates EDEM3-mediated mannose trimming to sustain ER homeostasis in ovarian cancer.Cellular oncology (Dordrecht, Netherlands) · 2025Article
- Conditional knockout mouse model demonstrates that Copa expression is required for viability in development and adulthood.Biochemical and biophysical research communications · 2025Article
- Production and cryo-electron microscopy structure of an internally tagged SARS-CoV-2 spike ecto-domain construct.Journal of structural biology: X · 2025Article
- COPB1 deficiency triggers osteoporosis with elevated iron stores by inducing osteoblast ferroptosis.Journal of orthopaedic translation · 2025Article
- Article
- COPZ1: an example of non-oncogene addiction in human tumors.Frontiers in pharmacology · 2025Review
- Identification of a Fetal De Novo Splice Variant inMaternal-fetal medicine (Wolters Kluwer Health, Inc.) · 2025Article
- COPB2 promotes hepatocellular carcinoma progression through regulation of YAP1 nuclear translocation.Oncology research · 2025Article
- A novel ARCN1 splice-site variant in a Chinese girl with central precocious puberty, intrauterine growth restriction, microcephaly, and microretrognathia.BMC pediatrics · 2024Article
- Article
- Autoinflammatory patients with Golgi-trapped CDC42 exhibit intracellular trafficking defects leading to STING hyperactivation and ER stress.Nature communications · 2024Article
- Review
- Heterozygous mutations in the C-terminal domain of COPA underlie a complex autoinflammatory syndrome.The Journal of clinical investigation · 2024Article
- Integrating non-mammalian model organisms in the diagnosis of rare genetic diseases in humans.Nature reviews. Genetics · 2024Review
- Exploring the pathological mechanisms underlying Cohen syndrome.Frontiers in neuroscience · 2024Review
- A single C-terminal residue controls SARS-CoV-2 spike trafficking and incorporation into VLPs.Nature communications · 2023Article
- Strategies for rapid production of crystallization quality coatomer WD40 domains.Protein expression and purification · 2023Article
- Dominant negative variants in KIF5B cause osteogenesis imperfecta via down regulation of mTOR signaling.PLoS genetics · 2023Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
54 authors at 9 institutions in 3 countries.
Ronit MaromDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA.
Lindsay C BurrageDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA.
Rossella VendittiTelethon Institute of Genetics and Medicine, Naples 80078, Italy.
Aurélie ClémentInstitute of Neuroscience, University of Oregon, Eugene, OR 97403, USA.
Bernardo Blanco-SánchezInstitute of Neuroscience, University of Oregon, Eugene, OR 97403, USA.
Mahim JainDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Daryl A ScottDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA; Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, TX 77030, USA.
Jill A RosenfeldDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
V Reid SuttonDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA.
Marwan ShinawiDepartment of Pediatrics, Division of Genetics and Genomic Medicine, Washington University School of Medicine, St. Louis, MO 63110, USA.
Ghayda MirzaaCenter for Integrative Brain Research, Seattle Children's Research Institute, and Department of Pediatrics, University of Washington, and Brotman Baty Institute for Precision Medicine, Seattle, WA 98105, USA.
Catherine DeVileGreat Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3JH, UK.
Rowenna RobertsGreat Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3JH, UK.
Alistair D CalderGreat Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3JH, UK.
Jeremy AllgroveGreat Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3JH, UK.
Ingo GrafeDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Denise G LanzaDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Xiaohui LiDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Kyu Sang JoengDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Yi-Chien LeeDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
I-Wen SongDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Joseph M SliepkaDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Dominyka BatkovskyteDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Megan WashingtonDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Brian C DawsonDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Zixue JinDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Ming-Ming JiangDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Shan ChenDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Yuqing ChenDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Alyssa A TranDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Lisa T EmrickDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA; Department of Pediatrics, Section of Neurology and Developmental Neuroscience, Baylor College of Medicine, Houston, TX 77030, USA.
David R MurdockDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.
Neil A HanchardDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA; Laboratory for Translational Genomics, ARS/USDA Children's Nutrition Research Center, Baylor College of Medicine, Houston, TX 77030, USA.
Gladys E ZapataLaboratory for Translational Genomics, ARS/USDA Children's Nutrition Research Center, Baylor College of Medicine, Houston, TX 77030, USA.
Nitesh R MehtaLaboratory for Translational Genomics, ARS/USDA Children's Nutrition Research Center, Baylor College of Medicine, Houston, TX 77030, USA.
Mary Ann WeisDepartment of Orthopaedics and Sports Medicine, University of Washington, Seattle, WA 98195, USA.
Abbey A ScottDivision of Genetic Medicine, Seattle Children's Hospital, Seattle, WA 98105, USA.
Brenna A TrempInstitute of Neuroscience, University of Oregon, Eugene, OR 97403, USA.
Jennifer B PhillipsInstitute of Neuroscience, University of Oregon, Eugene, OR 97403, USA.
Jeremy WegnerInstitute of Neuroscience, University of Oregon, Eugene, OR 97403, USA.
Tashunka Taylor-MillerGreat Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3JH, UK.
Richard A GibbsDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.
Donna M MuznyHuman Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.
Shalini N JhangianiHuman Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.
John HicksTexas Children's Hospital, Houston, TX 77030, USA; Department of Pathology, Texas Children's Hospital, and Department of Pathology and Immunology, Baylor College of Medicine, Houston, TX 77030, USA.
Rolf W StottmannDivision of Human Genetics, and Division of Developmental Biology, and Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA.
Mary E DickinsonDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, TX 77030, USA.
John R SeavittDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Jason D HeaneyDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
David R EyreDepartment of Orthopaedics and Sports Medicine, University of Washington, Seattle, WA 98195, USA.
Undiagnosed Diseases Network
Monte WesterfieldInstitute of Neuroscience, University of Oregon, Eugene, OR 97403, USA.
Maria Antonietta De MatteisTelethon Institute of Genetics and Medicine, Naples 80078, Italy; Department of Molecular Medicine and Medical Biotechnology, University of Napoli Federico II, Naples 80078, Italy.
Brendan LeeDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA. Electronic address: blee@bcm.edu.
Baylor College of Medicine · USUniversity of Oregon · USGreat Ormond Street Hospital for Children NHS Foundation Trust · GBUniversity of Washington · USChildren's Nutrition Research Center at Baylor College of Medicine · USTelethon Institute Of Genetics And Medicine · ITCincinnati Children's Hospital Medical Center · USSeattle Children's Hospital · USWashington University in St. Louis · US
Funding
UM1HG006348: Cas9 Genome Integrity Supplemental ProposalUM1HG006348 · NHGRI · BAYLOR COLLEGE OF MEDICINE · PI Jason D. Heaney, Chih-Wei Logan Hsu · 2016 to 2026
$47.5MProject 3: 3D ImagingU54AR068069 · NIAMS · BAYLOR COLLEGE OF MEDICINE · PI Sandesh Chakravarthy Sreenath Nagamani · 2014 to 2026
$19.3MBaylor-Johns Hopkins Center for Mendelian GeneticsUM1HG006542 · NHGRI · JOHNS HOPKINS UNIVERSITY · PI VALLE, DAVID · 2016 to 2020
$14.5MPilot of New Technologies to Increase the Genomic Diagnosis of Undiagnosed Disease Network (UDN) PatientsU01HG007709 · NHGRI · BAYLOR COLLEGE OF MEDICINE · PI BACINO, CARLOS A., LEE, BRENDAN · 2014 to 2022
$14.3MProject 3: Collagen post-translational modification and cross-linking in OIP01HD070394 · NICHD · BAYLOR COLLEGE OF MEDICINE · PI LEE, BRENDAN · 2011 to 2020
$13.4MMEDICAL GENETICS RESEARCH FELLOWSHIP PROGRAMT32GM007526 · NIGMS · BAYLOR COLLEGE OF MEDICINE · PI Brendan Lee · 1985 to 2026
$11.4MPreclinical and Clincial OutcomesP50HD103555 · NICHD · BAYLOR COLLEGE OF MEDICINE · PI Sandesh Chakravarthy Sreenath Nagamani, David Loren Nelson · 2020 to 2026
$9.9MMechanisms of Brain Dysmorphology in MN1 C-Terminal Truncation Syndrome, a Novel Intellectual Developmental Disability Disorder P50HD103524 · NICHD · UNIVERSITY OF WASHINGTON · PI Sandra E Juul · 2020 to 2026
$9.9MSteps towards a paternal gene activation therapy for Angelman syndromeU54HD083092 · NICHD · BAYLOR COLLEGE OF MEDICINE · PI NELSON, DAVID LOREN, SAMACO, RODNEY C · 2014 to 2019
$7.8MZebrafish CoreU54NS093793 · NINDS · BAYLOR COLLEGE OF MEDICINE · PI BELLEN, HUGO J · 2015 to 2022
$7.5MCollagen Cross-linking in Skeletal Aging and DiseaseR37AR037318 · NIAMS · UNIVERSITY OF WASHINGTON · PI EYRE, DAVID R · 2010 to 2019
$3.4MPATHOLOGY OF INBORN SKELETAL DISEASESR01AR037318 · NIAMS · UNIVERSITY OF WASHINGTON · PI EYRE, DAVID R · 1986 to 2009
$3.4MNHGRI NIH HHS U01 HG007709NHGRI NIH HHS UM1 HG006348NHGRI NIH HHS UM1 HG006542NIAMS NIH HHS R01 AR037318NIAMS NIH HHS R37 AR037318NIAMS NIH HHS U54 AR068069NICHD NIH HHS P01 HD070394NICHD NIH HHS P50 HD103524NICHD NIH HHS P50 HD103555NICHD NIH HHS U54 HD083092NIDCR NIH HHS R03 DE026233NIDDK NIH HHS K08 DK106453NIGMS NIH HHS T32 GM007526NINDS NIH HHS K08 NS092898NINDS NIH HHS U54 NS093793
Abstract
Coatomer complexes function in the sorting and trafficking of proteins between subcellular organelles. Pathogenic variants in coatomer subunits or associated factors have been reported in multi-systemic disorders, i.e., coatopathies, that can affect the skeletal and central nervous systems. We have identified loss-of-function variants in COPB2, a component of the coatomer complex I (COPI), in individuals presenting with osteoporosis, fractures, and developmental delay of variable severity. Electron microscopy of COPB2-deficient subjects' fibroblasts showed dilated endoplasmic reticulum (ER) with granular material, prominent rough ER, and vacuoles, consistent with an intracellular trafficking defect. We studied the effect of COPB2 deficiency on collagen trafficking because of the critical role of collagen secretion in bone biology. COPB2 siRNA-treated fibroblasts showed delayed collagen secretion with retention of type I collagen in the ER and Golgi and altered distribution of Golgi markers. copb2-null zebrafish embryos showed retention of type II collagen, disorganization of the ER and Golgi, and early larval lethality. Copb2
Indexed as
AnimalsAscorbic AcidBone and BonesBrainChildChild, PreschoolCoatomer ProteinCoat Protein Complex ICollagen Type IDevelopmental DisabilitiesEmbryo, NonmammalianEndoplasmic ReticulumFemaleFibroblastsGene Expression Regulation, DevelopmentalGolgi ApparatusAscorbic AcidCoatomer ProteinCoat Protein Complex ICollagen Type ICOPB2 protein, humanRNA, Small Interferingcoatopathycollagen traffickingCOPB2COPI complexjuvenile osteoporosis
Identifiers
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Registered trials
NCT02450851ClinicalTrials.gov
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.