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<i>SEC31A</i> mutation affects ER homeostasis, causing a neurological syndrome

https://doi.org/10.1136/jmedgenet-2018-105503
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46/46 checkable references clean · checked 2026-07-23

Every reference with a DOI in the deposited reference list resolved to a known work in Crossref or DataCite at the dated check, and none carried a retraction, withdrawal, or removal notice.

The 46 checked references that resolve
resolves10.1101/cshperspect.a013367
The Highly Conserved COPII Coat Complex Sorts Cargo from the Endoplasmic Reticulum and Targets It to the Golgi
resolves10.1016/S0962-8924(03)00082-5
Signals for COPII-dependent export from the ER: what's the ticket out?
resolves10.1016/S0092-8674(01)00215-X
Protein Sorting upon Exit from the Endoplasmic Reticulum
resolves10.1242/jcs.069773
COPII-mediated vesicle formation at a glance
resolves10.1038/nrm2025
The COPII cage: unifying principles of vesicle coat assembly
resolves10.1083/jcb.200509095
Regulation of Sar1 NH2 terminus by GTP binding and hydrolysis promotes membrane deformation to control COPII vesicle fission
resolves10.1016/S0092-8674(03)00650-0
Molecular Recognition of Cargo by the COPII Complex
resolves10.1016/S0092-8674(03)00609-3
Multiple Cargo Binding Sites on the COPII Subunit Sec24p Ensure Capture of Diverse Membrane Proteins into Transport Vesicles
resolves10.1038/nature04339
Structure of the Sec13/31 COPII coat cage
resolves10.1016/j.cell.2007.05.036
Structure and Organization of Coat Proteins in the COPII Cage
resolves10.1038/35078500
Dynamics of the COPII coat with GTP and stable analogues
resolves10.1038/ncb2390
COPII and the regulation of protein sorting in mammals
resolves10.1182/blood-2012-01-292086
The COPII pathway and hematologic disease
resolves10.1093/nar/gkp369
HomozygosityMapper--an interactive approach to homozygosity mapping
resolves10.1093/brain/awx013
SLC30A9 mutation affecting intracellular zinc homeostasis causes a novel cerebro-renal syndrome
resolves10.1002/humu.23310
<i>PAX7</i>mutation in a syndrome of failure to thrive, hypotonia, and global neurodevelopmental delay
resolves10.1016/j.celrep.2012.09.011
A GAL4-Driver Line Resource for Drosophila Neurobiology
resolves10.1038/nprot.2013.143
Genome engineering using the CRISPR-Cas9 system
resolves10.1126/science.1231143
Multiplex Genome Engineering Using CRISPR/Cas Systems
resolves10.1007/s12033-013-9672-6
A Defined Methodology for Reliable Quantification of Western Blot Data
resolves10.1016/B978-0-12-385114-7.00004-0
Measuring ER Stress and the Unfolded Protein Response Using Mammalian Tissue Culture System
resolves10.1101/pdb.prot087379
Crystal Violet Assay for Determining Viability of Cultured Cells
resolves10.1074/jbc.275.18.13597
Mammalian Homologues of Yeast Sec31p
resolves10.1016/j.conb.2011.04.009
Drosophila modeling of heritable neurodevelopmental disorders
resolves10.1016/j.bbrc.2017.06.137
Inhibition of PLD1 activity causes ER stress via regulation of COPII vesicle formation
resolves10.1210/me.2015-1012
COPII-Dependent ER Export: A Critical Component of Insulin Biogenesis and β-Cell ER Homeostasis
resolves10.1016/0092-8674(94)90138-4
COPII: A membrane coat formed by Sec proteins that drive vesicle budding from the endoplasmic reticulum
resolves10.1093/nar/gkj086
The Zebrafish Information Network: the zebrafish model organism database
resolves10.1016/j.devcel.2007.10.005
The Genetic Basis of a Craniofacial Disease Provides Insight into COPII Coat Assembly
resolves10.1074/jbc.M111.283382
SEC23-SEC31 the Interface Plays Critical Role for Export of Procollagen from the Endoplasmic Reticulum
resolves10.1126/science.1097931
Dissection of the Mammalian Midbody Proteome Reveals Conserved Cytokinesis Mechanisms
resolves10.18388/abp.2005_3451
Endoplasmic reticulum quality control and apoptosis.
resolves10.1016/j.ajhg.2015.01.002
Mutations in SEC24D, Encoding a Component of the COPII Machinery, Cause a Syndromic Form of Osteogenesis Imperfecta
resolves10.1038/nrm3270
The unfolded protein response: controlling cell fate decisions under ER stress and beyond
resolves10.3109/09687688.2010.524894
Emergent properties of proteostasis-COPII coupled systems in human health and disease
resolves10.1186/1750-1172-6-78
Anderson's disease/chylomicron retention disease in a Japanese patient with uniparental disomy 7 and a normal SAR1B gene protein coding sequence
resolves10.1038/ng1145
Mutations in a Sar1 GTPase of COPII vesicles are associated with lipid absorption disorders
resolves10.1038/ng1876
Cranio-lenticulo-sutural dysplasia is caused by a SEC23A mutation leading to abnormal endoplasmic-reticulum-to-Golgi trafficking
resolves10.1111/j.1399-0004.2010.01550.x
Cranio‐lenticulo‐sutural dysplasia associated with defects in collagen secretion
resolves10.1016/j.devcel.2007.10.006
Insights into COPII Coat Nucleation from the Structure of Sec23•Sar1 Complexed with the Active Fragment of Sec31
resolves10.1038/ng.405
Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II
resolves10.1002/humu.21077
Congenital dyserythropoietic anemia type II (CDAII) is caused by mutations in the<i>SEC23B</i>gene
resolves10.1038/ncb2002
Sec24b selectively sorts Vangl2 to regulate planar cell polarity during neural tube closure
resolves10.1074/jbc.M114.566687
Mammalian COPII Coat Component SEC24C Is Required for Embryonic Development in Mice
resolves10.1242/jcs.031070
Efficient coupling of Sec23-Sec24 to Sec13-Sec31 drives COPII-dependent collagen secretion and is essential for normal craniofacial development
resolves10.1371/journal.pgen.1007327
Role of duplicate genes in determining the tissue-selectivity of hereditary diseases
What this badge says. CiteStamped means the CHECKABLE references of this work were clean at the dated check: each resolved to a known work in a public registry, and none carried a retraction notice at that time. It says nothing about the quality, findings, or importance of the work itself, and nothing about references deposited without a DOI.

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