Frizzled 5 Signaling Governs the Neural Potential of Progenitors in the Developing Xenopus Retina
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journal
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April 2005 |
Mutations in STRA6 Cause a Broad Spectrum of Malformations Including Anophthalmia, Congenital Heart Defects, Diaphragmatic Hernia, Alveolar Capillary Dysplasia, Lung Hypoplasia, and Mental Retardation
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journal
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March 2007 |
Fibrillin-1 and fibrillin-2 in human embryonic and early fetal development
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journal
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December 2002 |
Bilateral Renal Agenesis/Hypoplasia/Dysplasia (BRAHD): Postmortem Analysis of 45 Cases with Breakpoint Mapping of Two De Novo Translocations
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journal
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August 2010 |
Identification of the laminar-inducing factor: Wnt-signal from the anterior rim induces correct laminar formation of the neural retina in vitro
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journal
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August 2003 |
Combinatorial regulation of optic cup progenitor cell fate by SOX2 and PAX6
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journal
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February 2011 |
Mutation of the Na-K-Cl Co-Transporter Gene Slc12a2 Results in Deafness in Mice
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journal
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August 1999 |
A novel form of chondrocyte stress is triggered by a COMP mutation causing pseudoachondroplasia
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journal
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November 2011 |
XBP1 mRNA Is Induced by ATF6 and Spliced by IRE1 in Response to ER Stress to Produce a Highly Active Transcription Factor
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journal
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December 2001 |
A label-free quantification method by MS/MS TIC compared to SILAC and spectral counting in a proteomics screen
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journal
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March 2008 |
BMP4 is essential for lens induction in the mouse embryo
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journal
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December 1998 |
Developmental eye disorders
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journal
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June 2005 |
The Evolution of Extracellular Fibrillins and Their Functional Domains
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journal
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March 2012 |
Clustering ofFBN2 mutations in patients with congenital contractural arachnodactyly indicates an important role of the domains encoded by exons 24 through 34 during human development
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journal
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July 1998 |
Embryonic Synthesis of the Inner Limiting Membrane and Vitreous Body
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journal
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June 2005 |
Fibrillin–2 (FBN2) mutations result in the Marfan–like disorder, congenital contractural arachnodactyly
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journal
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December 1995 |
SOX2 is a dose-dependent regulator of retinal neural progenitor competence
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journal
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May 2006 |
FOXE3 plays a significant role in autosomal recessive microphthalmia
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journal
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March 2010 |
Selective Inhibition of Endoplasmic Reticulum-associated Degradation Rescues ΔF508-Cystic Fibrosis Transmembrane Regulator and Suppresses Interleukin-8 Levels
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journal
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June 2006 |
Bad bones, absent smell, selfish testes: The pleiotropic consequences of human FGF receptor mutations
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journal
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April 2005 |
Marfan syndrome with neonatal progeroid syndrome-like lipodystrophy associated with a novel frameshift mutation at the 3′ terminus of the FBN1-gene
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journal
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October 2010 |
Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24–32 mutation
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journal
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November 2008 |
Clinical and mutation analysis of 51 probands with anophthalmia and/or severe microphthalmia from a single center
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journal
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March 2013 |
National study of microphthalmia, anophthalmia, and coloboma (MAC) in Scotland: investigation of genetic aetiology
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journal
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January 2002 |
Mutations in SOX2 cause anophthalmia
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journal
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March 2003 |
Loss of the BMP Antagonist, SMOC-1, Causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) Syndrome in Humans and Mice
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journal
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July 2011 |
SMOC1 Is Essential for Ocular and Limb Development in Humans and Mice
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journal
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January 2011 |
Unique Matrix Structure in the Rough Endoplasmic Reticulum Cisternae of Pseudoachondroplasia Chondrocytes
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journal
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January 2007 |
Filamin A: phenotypic diversity
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journal
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June 2005 |
Linkage of Marfan syndrome and a phenotypically related disorder to two different fibrillin genes
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journal
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July 1991 |
Heterozygous Mutations of OTX2 Cause Severe Ocular Malformations
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journal
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June 2005 |
A rule for termination-codon position within intron-containing genes: when nonsense affects RNA abundance
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journal
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June 1998 |
Involvement of Sox1, 2 and 3 in the early and subsequent molecular events of lens induction
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journal
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July 1998 |
Mutation of the gene encoding fibrillin-2 results in syndactyly in mice
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journal
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April 2001 |
Progeroid facial features and lipodystrophy associated with a novel splice site mutation in the final intron of the FBN1 gene
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journal
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March 2011 |
Further evidence for a marfanoid syndrome with neonatal progeroid features and severe generalized lipodystrophy due to frameshift mutations near the 3′ end of the FBN1 gene
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journal
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March 2011 |
Wnt2b/β-catenin-mediated canonical Wnt signaling determines the peripheral fates of the chick eye
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journal
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August 2006 |
Regulation of limb patterning by extracellular microfibrils
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journal
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July 2001 |
The Fate of Cartilage Oligomeric Matrix Protein Is Determined by the Cell Type in the Case of a Novel Mutation in Pseudoachondroplasia
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journal
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December 1997 |
The Nonsense-Mediated Decay RNA Surveillance Pathway
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journal
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June 2007 |
Pseudoachondroplasia is caused through both intra- and extracellular pathogenic pathways
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journal
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August 2002 |
The role of the posterior ciliary body in the biosynthesis of vitreous humour
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journal
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July 2002 |
The clinical spectrum of complete FBN1 allele deletions
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journal
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November 2010 |
ENU Mutagenesis Reveals a Novel Phenotype of Reduced Limb Strength in Mice Lacking Fibrillin 2
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journal
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February 2010 |
Fibrillin-1 in Human Cartilage: Developmental Expression and Formation of Special Banded Fibers
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journal
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August 1997 |
Processing of the Fibrillin-1 Carboxyl-terminal Domain
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journal
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March 1999 |
Endoplasmic reticulum dysfunction in neurological disease
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journal
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January 2013 |
Laminopathies and the long strange trip from basic cell biology to therapy
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journal
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July 2009 |
PAX6 gene dosage effect in a family with congenital cataracts, aniridia, anophthalmia and central nervous system defects
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journal
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August 1994 |
Mapping Wnt/ -catenin signaling during mouse development and in colorectal tumors
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journal
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March 2003 |
Surviving Endoplasmic Reticulum Stress Is Coupled to Altered Chondrocyte Differentiation and Function
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journal
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February 2007 |
Mutations in the SPARC-Related Modular Calcium-Binding Protein 1 Gene, SMOC1, Cause Waardenburg Anophthalmia Syndrome
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journal
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January 2011 |
Trafficking abnormality and ER stress underlie functional deficiency of hearing impairmentassociated connexin-31 mutants
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journal
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October 2010 |
Comprehensive Profiling of Cartilage Extracellular Matrix Formation and Maturation Using Sequential Extraction and Label-free Quantitative Proteomics
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journal
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June 2010 |
SOX2 anophthalmia syndrome
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journal
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May 2005 |
The original shaker-with-syndactylism mutation ( sy ) is a contiguous gene deletion syndrome
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journal
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November 1998 |
In vivo cellular adaptation to ER stress: survival strategies with double-edged consequences
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journal
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July 2010 |
A directional Wnt/β-catenin-Sox2-proneural pathway regulates the transition from proliferation to differentiation in the Xenopus retina
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journal
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October 2009 |
Characterization of Wnt signaling components and activation of the Wnt canonical pathway in the murine retina
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journal
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June 2003 |
Development, Composition, and Structural Arrangements of the Ciliary Zonule of the Mouse
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journal
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April 2013 |
Developmental expression of fibrillin genes suggests heterogeneity of extracellular microfibrils.
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journal
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May 1995 |