Monoallelic Mutations in CC2D1A Suggest a Novel Role in Human Heterotaxy and Ciliary Dysfunction
Published 2020 View Full Article
- Home
- Publications
- Publication Search
- Publication Details
Title
Monoallelic Mutations in
CC2D1A
Suggest a Novel Role in Human Heterotaxy and Ciliary Dysfunction
Authors
Keywords
-
Journal
Circulation-Genomic and Precision Medicine
Volume 13, Issue 6, Pages -
Publisher
Ovid Technologies (Wolters Kluwer Health)
Online
2020-11-17
DOI
10.1161/circgen.120.003000
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- A founder truncating variant in GDF1 causes autosomal‐recessive right isomerism and associated congenital heart defects in multiplex Arab kindreds
- (2020) Dina Marek‐Yagel et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Left–Right Patterning: Breaking Symmetry to Asymmetric Morphogenesis
- (2017) Daniel T. Grimes et al. TRENDS IN GENETICS
- Cilia in Left–Right Symmetry Breaking
- (2017) Kyosuke Shinohara et al. Cold Spring Harbor Perspectives in Biology
- Structural Basis for Regulation of ESCRT-III Complexes by Lgd
- (2017) Brian J. McMillan et al. Cell Reports
- Primary Cilia as a Possible Link between Left-Right Asymmetry and Neurodevelopmental Diseases
- (2017) Andrey Trulioff et al. Genes
- Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in Humans
- (2016) Francesco Vetrini et al. AMERICAN JOURNAL OF HUMAN GENETICS
- FusX: A Rapid One-Step Transcription Activator-Like Effector Assembly System for Genome Science
- (2016) Alvin C. Ma et al. HUMAN GENE THERAPY
- The Zebrafish Model Organism Database: new support for human disease models, mutation details, gene expression phenotypes and searching
- (2016) Douglas G. Howe et al. NUCLEIC ACIDS RESEARCH
- DNAH6 and Its Interactions with PCD Genes in Heterotaxy and Primary Ciliary Dyskinesia
- (2016) You Li et al. PLoS Genetics
- Genetic Analysis Reveals a Hierarchy of Interactions between Polycystin-Encoding Genes and Genes Controlling Cilia Function during Left-Right Determination
- (2016) Daniel T. Grimes et al. PLoS Genetics
- Survival into adulthood of patients with atrial isomerism undergoing cardiac surgery
- (2015) Jayapadman Bhaskar et al. JOURNAL OF THORACIC AND CARDIOVASCULAR SURGERY
- Genetic compensation induced by deleterious mutations but not gene knockdowns
- (2015) Andrea Rossi et al. NATURE
- A global reference for human genetic variation
- (2015) Richard A. Gibbs et al. NATURE
- MMP21 is mutated in human heterotaxy and is required for normal left-right asymmetry in vertebrates
- (2015) Anne Guimier et al. NATURE GENETICS
- Phenolyzer: phenotype-based prioritization of candidate genes for human diseases
- (2015) Hui Yang et al. NATURE METHODS
- The Mammalian Orthologs of Drosophila Lgd, CC2D1A and CC2D1B, Function in the Endocytic Pathway, but Their Individual Loss of Function Does Not Affect Notch Signalling
- (2015) Nadja Drusenheimer et al. PLoS Genetics
- Rare and Coding Region Genetic Variants Associated With Risk of Ischemic Stroke
- (2015) Paul L. Auer et al. JAMA Neurology
- Laterality defects in the national birth defects prevention study (1998-2007): Birth prevalence and descriptive epidemiology
- (2014) Angela E. Lin et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Laterality Defects Other Than Situs Inversus Totalis in Primary Ciliary Dyskinesia
- (2014) Adam J Shapiro et al. CHEST
- A human laterality disorder associated with a homozygous WDR16 deletion
- (2014) Asaf Ta-Shma et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Novel copy-number variants in a population-based investigation of classic heterotaxy
- (2014) Shannon L. Rigler et al. GENETICS IN MEDICINE
- A general framework for estimating the relative pathogenicity of human genetic variants
- (2014) Martin Kircher et al. NATURE GENETICS
- A new case of de novo 19p13.2p13.12 deletion in a girl with overgrowth and severe developmental delay
- (2014) Abdelhafid Natiq et al. Molecular Cytogenetics
- Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary Dyskinesia
- (2013) Christina Austin-Tse et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Genome-wide association study identifies loci on 12q24 and 13q32 associated with Tetralogy of Fallot
- (2013) H. J. Cordell et al. HUMAN MOLECULAR GENETICS
- CNVannotator: A Comprehensive Annotation Server for Copy Number Variation in the Human Genome
- (2013) Min Zhao et al. PLoS One
- NPHP4 Variants Are Associated With Pleiotropic Heart Malformations
- (2012) Vanessa M. French et al. CIRCULATION RESEARCH
- An essential and highly conserved role for Zic3 in left–right patterning, gastrulation and convergent extension morphogenesis
- (2012) Ashley E. Cast et al. DEVELOPMENTAL BIOLOGY
- Protein Implicated in Nonsyndromic Mental Retardation Regulates Protein Kinase A (PKA) Activity
- (2012) Azza Al-Tawashi et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- TBK1-associated Protein in Endolysosomes (TAPE)/CC2D1A Is a Key Regulator Linking RIG-I-like Receptors to Antiviral Immunity
- (2012) Kuan-Ru Chen et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- The tumour suppressor Lethal (2) giant discs is required for the function of the ESCRT-III component Shrub/CHMP4
- (2012) T. Troost et al. JOURNAL OF CELL SCIENCE
- Hooked! Modeling human disease in zebrafish
- (2012) Cristina Santoriello et al. JOURNAL OF CLINICAL INVESTIGATION
- A human laterality disorder associated with recessiveCCDC11mutation
- (2012) Zeev Perles et al. JOURNAL OF MEDICAL GENETICS
- CC2D1A Is a Regulator of ESCRT-III CHMP4B
- (2012) Nicolas Martinelli et al. JOURNAL OF MOLECULAR BIOLOGY
- Co-occurrence of distinct ciliopathy diseases in single families suggests genetic modifiers
- (2011) Maha S. Zaki et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Mutations in ZIC3 and ACVR2B are a common cause of heterotaxy and associated cardiovascular anomalies
- (2011) Lijiang Ma et al. CARDIOLOGY IN THE YOUNG
- Cc2d1a, a C2 domain containing protein linked to nonsyndromic mental retardation, controls functional maturation of central synapses
- (2011) Meng Zhao et al. JOURNAL OF NEUROPHYSIOLOGY
- Rare copy number variations in congenital heart disease patients identify unique genes in left-right patterning
- (2011) K. A. Fakhro et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Recessively inherited right atrial isomerism caused by mutations in growth/differentiation factor 1 (GDF1)
- (2010) E. Kaasinen et al. HUMAN MOLECULAR GENETICS
- TBK1-associated Protein in Endolysosomes (TAPE) Is an Innate Immune Regulator Modulating the TLR3 and TLR4 Signaling Pathways
- (2010) Chun-Hung Chang et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Disorders of left-right asymmetry: Heterotaxy and situs inversus
- (2009) Mardi J. Sutherland et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS
- Human Freud-2/CC2D1B: A Novel Repressor of Postsynaptic Serotonin-1A Receptor Expression
- (2009) Mahmoud R. Hadjighassem et al. BIOLOGICAL PSYCHIATRY
- Centrosomal Aki1 and cohesin function in separase-regulated centriole disengagement
- (2009) Akito Nakamura et al. JOURNAL OF CELL BIOLOGY
- Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm
- (2009) Prateek Kumar et al. Nature Protocols
- Identification and functional characterization of NODAL rare variants in heterotaxy and isolated cardiovascular malformations
- (2008) Bhagyalaxmi Mohapatra et al. HUMAN MOLECULAR GENETICS
Find Funding. Review Successful Grants.
Explore over 25,000 new funding opportunities and over 6,000,000 successful grants.
ExploreAsk a Question. Answer a Question.
Quickly pose questions to the entire community. Debate answers and get clarity on the most important issues facing researchers.
Get Started