Disrupted ER membrane protein complex–mediated topogenesis drives congenital neural crest defects

Human neural crest induction by temporal modulation of WNT activation

(2019) Gustavo A. Gomez et al.   DEVELOPMENTAL BIOLOGY

WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome

(2018) Janson J. White et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Nonsense mutations in FZD2 cause autosomal-dominant omodysplasia: Robinow syndrome-like phenotypes

(2018) Keisuke Nagasaki et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The neural border: Induction, specification and maturation of the territory that generates neural crest cells

(2018) Patrick Pla et al.   DEVELOPMENTAL BIOLOGY

An atlas of Wnt activity during embryogenesis in Xenopus tropicalis

(2018) Caroline Borday et al.   PLoS One

The molecular basis of neural crest axial identity

(2018) Megan Rothstein et al.   DEVELOPMENTAL BIOLOGY

Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome

(2018) Daniela A. Braun et al.   JOURNAL OF CLINICAL INVESTIGATION

Mechanisms of Neural Crest Migration

(2018) András Szabó et al.   Annual Review of Genetics

EMC Is Required to Initiate Accurate Membrane Protein Topogenesis

(2018) Patrick J. Chitwood et al.   CELL

Specification and formation of the neural crest: Perspectives on lineage segregation

(2018) Maneeshi S. Prasad et al.   GENESIS

The PRIDE database and related tools and resources in 2019: improving support for quantification data

(2018) Yasset Perez-Riverol et al.   NUCLEIC ACIDS RESEARCH

Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands

(2017) Sheng Chih Jin et al.   NATURE GENETICS

Loss of TMEM106B Ameliorates Lysosomal and Frontotemporal Dementia-Related Phenotypes in Progranulin-Deficient Mice

(2017) Zoe A. Klein et al.   NEURON

The ER membrane protein complex is a transmembrane domain insertase

(2017) Alina Guna et al.   SCIENCE

Regulatory Logic Underlying Diversification of the Neural Crest

(2017) Megan L. Martik et al.   TRENDS IN GENETICS

A novel splice variant in EMC1 is associated with cerebellar atrophy, visual impairment, psychomotor retardation with epilepsy

(2017) Thenral S. Geetha et al.   Molecular Genetics & Genomic Medicine

Analysis of Craniocardiac Malformations in Xenopus using Optical Coherence Tomography

(2017) Engin Deniz et al.   Scientific Reports

Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy

(2016) Tamar Harel et al.   AMERICAN JOURNAL OF HUMAN GENETICS

WNT/β-catenin signaling mediates human neural crest induction via a pre-neural border intermediate

(2016) Alan W. Leung et al.   DEVELOPMENT

Controlled levels of canonical Wnt signaling are required for neural crest migration

(2016) Ewa Maj et al.   DEVELOPMENTAL BIOLOGY

Congenital Heart Disease Genetics Uncovers Context-Dependent Organization and Function of Nucleoporins at Cilia

(2016) Florencia del Viso et al.   DEVELOPMENTAL CELL

Mutations in nuclear pore genes NUP93, NUP205 and XPO5 cause steroid-resistant nephrotic syndrome

(2016) Daniela A Braun et al.   NATURE GENETICS

Measuring Absolute RNA Copy Numbers at High Temporal Resolution Reveals Transcriptome Kinetics in Development

(2016) Nick D.L. Owens et al.   Cell Reports

The Roles of RNA Polymerase I and III Subunits Polr1c and Polr1d in Craniofacial Development and in Zebrafish Models of Treacher Collins Syndrome

(2016) Kristin E. Noack Watt et al.   PLoS Genetics

Establishing neural crest identity: a gene regulatory recipe

(2015) M. Simoes-Costa et al.   DEVELOPMENT

CRISPR/Cas9: An inexpensive, efficient loss of function tool to screen human disease genes in Xenopus

(2015) Dipankan Bhattacharya et al.   DEVELOPMENTAL BIOLOGY

A mutation in FRIZZLED2 impairs Wnt signaling and causes autosomal dominant omodysplasia

(2015) H. M. Saal et al.   HUMAN MOLECULAR GENETICS

The Wnt receptor Frizzled-4 modulates ADAM13 metalloprotease activity

(2015) G. Abbruzzese et al.   JOURNAL OF CELL SCIENCE

De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies

(2015) J. Homsy et al.   SCIENCE

The Ribosome Biogenesis Factor Nol11 Is Required for Optimal rDNA Transcription and Craniofacial Development in Xenopus

(2015) John N. Griffin et al.   PLoS Genetics

dPob/EMC is essential for biosynthesis of rhodopsin and other multi-pass membrane proteins in Drosophila photoreceptors

(2015) Takunori Satoh et al.   eLife

FoxD3 regulates cranial neural crest EMT via downregulation of tetraspanin18 independent of its functions during neural crest formation

(2014) Corinne L. Fairchild et al.   MECHANISMS OF DEVELOPMENT

Easy quantitative assessment of genome editing by sequence trace decomposition

(2014) Eva K. Brinkman et al.   NUCLEIC ACIDS RESEARCH

The hypoxia factor Hif-1α controls neural crest chemotaxis and epithelial to mesenchymal transition

(2013) Elias H. Barriga et al.   JOURNAL OF CELL BIOLOGY

Tetraspanin18 is a FoxD3-responsive antagonist of cranial neural crest epithelial-to-mesenchymal transition that maintains cadherin-6B protein

(2013) C. L. Fairchild et al.   JOURNAL OF CELL SCIENCE

Design and use of transgenic reporter strains for detecting activity of signaling pathways in Xenopus

(2013) Hong Thi Tran et al.   METHODS

Golden GATEway Cloning – A Combinatorial Approach to Generate Fusion and Recombination Constructs

(2013) Stephan Kirchmaier et al.   PLoS One

Biosynthesis of ionotropic acetylcholine receptors requires the evolutionarily conserved ER membrane complex

(2013) Magali Richard et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Current perspectives of the signaling pathways directing neural crest induction

(2012) Timothy J. Stuhlmiller et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

Neural crest delamination and migration: From epithelium-to-mesenchyme transition to collective cell migration

(2012) Eric Theveneau et al.   DEVELOPMENTAL BIOLOGY

The neural crest in cardiac congenital anomalies

(2012) Anna Keyte et al.   DIFFERENTIATION

Development of xenopus resource centers: The national xenopus resource and the european xenopus resource center

(2012) Esther J. Pearl et al.   GENESIS

Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes

(2012) L. Abu-Safieh et al.   GENOME RESEARCH

Fiji: an open-source platform for biological-image analysis

(2012) Johannes Schindelin et al.   NATURE METHODS

The complex world of WNT receptor signalling

(2012) Christof Niehrs   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Transmembrane Protein 198 Promotes LRP6 Phosphorylation and Wnt Signaling Activation

(2011) J. Liang et al.   MOLECULAR AND CELLULAR BIOLOGY

Interruption of SOX10 function in myelinopathies

(2010) James R. Lupski   ANNALS OF NEUROLOGY

Collective Chemotaxis Requires Contact-Dependent Cell Polarity

(2010) Eric Theveneau et al.   DEVELOPMENTAL CELL

Genomic code for Sox10 activation reveals a key regulatory enhancer for cranial neural crest

(2010) Paola Betancur et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Elucidating timing and function of endothelin-A receptor signaling during craniofacial development using neural crest cell-specific gene deletion and receptor antagonism

(2009) Louis-Bruno Ruest et al.   DEVELOPMENTAL BIOLOGY

Wnt/β-Catenin Signaling: Components, Mechanisms, and Diseases

(2009) Bryan T. MacDonald et al.   DEVELOPMENTAL CELL

Unconventional splicing of XBP1 mRNA occurs in the cytoplasm during the mammalian unfolded protein response

(2009) A. Uemura et al.   JOURNAL OF CELL SCIENCE

Comprehensive Characterization of Genes Required for Protein Folding in the Endoplasmic Reticulum

(2009) M. C. Jonikas et al.   SCIENCE

A new role for the Endothelin-1/Endothelin-A receptor signaling during early neural crest specification

(2008) Marcela Bonano et al.   DEVELOPMENTAL BIOLOGY

Evolution of the neural crest viewed from a gene regulatory perspective

(2008) Tatjana Sauka-Spengler et al.   GENESIS