UvA-DARE ( Digital Academic Repository ) Loss of the BMP Antagonist , SMOC-1 , Causes Ophthalmo-Acromelic ( Waardenburg Anophthalmia ) Syndrome in Humans and Mice

No abstract is available for this paper.

• Publication year

  2011

• Venue

  Unknown venue

• Publication date

  Unknown publication date

• Fields of study

  Not labeled

• Identifiers

  No identifiers available.

• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar

• No claims are published for this paper.

• No concepts are published for this paper.

• SMOC1 is essential for ocular and limb development in humans and mice.

  2011cited by this paper
• Mutations in the SPARC-related modular calcium-binding protein 1 gene, SMOC1, cause waardenburg anophthalmia syndrome.

  2011cited by this paper
• Ophthalmoacromelic syndrome: two further cases expanding the phenotype.

  2010cited by this paper
• Bilateral Renal Agenesis/Hypoplasia/Dysplasia (BRAHD): Postmortem Analysis of 45 Cases with Breakpoint Mapping of Two De Novo Translocations

  2010cited by this paper
• Control of Dpp morphogen signalling by a secreted feedback regulator

  2010cited by this paper
• Regulation of organ growth by morphogen gradients.

  2010cited by this paper
• Bone morphogenetic protein receptors and signal transduction.

  2010cited by this paper
• Human BAMBI Cooperates with Smad7 to Inhibit Transforming Growth Factor-β Signaling*

  2009cited by this paper
• In the limb AER Bmp2 and Bmp4 are required for dorsal-ventral patterning and interdigital cell death but not limb outgrowth.

  2009cited by this paper
• A locus for ophthalmo‐acromelic syndrome mapped to 10p11.23

  2009cited by this paper
• A rare de novo nonsense mutation in OTX2 causes early onset retinal dystrophy and pituitary dysfunction

  2009cited by this paper
• Mutations in BMP4 are associated with subepithelial, microform, and overt cleft lip.

  2009cited by this paper
• Recent advances in BMP receptor signaling.

  2009cited by this paper
• Xenopus SMOC-1 Inhibits Bone Morphogenetic Protein Signaling Downstream of Receptor Binding and Is Essential for Postgastrulation Development in Xenopus

  2009cited by this paper
• Crossveinless-2 Is a BMP feedback inhibitor that binds Chordin/BMP to regulate Xenopus embryonic patterning.

  2008cited by this paper
• Pierre Robin sequence with unilateral anophthalmia and lower limb oligodactyly: an unusual presentation of ophthalmoacromelic syndrome?

  2008cited by this paper
• Integration of growth and specification in chick wing digit-patterning

  2008cited by this paper
• Mutations in BMP4 cause eye, brain, and digit developmental anomalies: overlap between the BMP4 and hedgehog signaling pathways.

  2008influential reference
• BMP signals control limb bud interdigital programmed cell death by regulating FGF signaling

  2007cited by this paper
• Anophthalmia-Waardenburg Syndrome With Expanding Phenotype: Does Neural Crest Play a Role?

  2007cited by this paper
• EUCOMM--the European conditional mouse mutagenesis program.

  2007cited by this paper
• Cathespin H Is an Fgf10 Target Involved in Bmp4 Degradation during Lung Branching Morphogenesis*

  2007cited by this paper
• Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation.

  2007cited by this paper
• Ophthalmo‐acromelic syndrome: Report of a case with vertebral anomalies

  2007cited by this paper
• Inhibition of Sonic hedgehog signaling leads to posterior digit loss in Ambystoma mexicanum: Parallels to natural digit reduction in urodeles

  2007cited by this paper
• Bone morphogenetic protein signaling in limb outgrowth and patterning

  2007cited by this paper
• The Decapentaplegic morphogen gradient: from pattern formation to growth regulation

  2007cited by this paper
• The bone morphogenetic protein 1/Tolloid-like metalloproteinases.

  2007cited by this paper
• Anophthalmos with limb anomalies (Waardenburg opththalmo-acromelic syndrome): report of a new Italian case with renal anomaly and review.

  2006cited by this paper
• Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndrome.

  2006cited by this paper
• Twisted gastrulation is required for forebrain specification and cooperates with Chordin to inhibit BMP signaling during X. tropicalis gastrulation.

  2006cited by this paper
• Spemann's organizer and self-regulation in amphibian embryos

  2006cited by this paper
• Diversity and evolution of the thyroglobulin type-1 domain superfamily.

  2006influential reference
• The interpretation of morphogen gradients

  2006cited by this paper
• SOX2 anophthalmia syndrome

  2005cited by this paper
• Regulation of cell proliferation by a morphogen gradient.

  2005cited by this paper
• Heterozygous mutations of OTX2 cause severe ocular malformations.

  2005cited by this paper
• p38MAPK Acts in the BMP7-dependent Stimulatory Pathway during Epithelial Cell Morphogenesis and Is Regulated by Smad1*

  2004cited by this paper
• Regulation of

  2003cited by this paper
• Characterization of SMOC-2, a modular extracellular calcium-binding protein.

  2003cited by this paper
• Mutations in SOX2 cause anophthalmia

  2003cited by this paper
• National study of microphthalmia, anophthalmia, and coloboma (MAC) in Scotland: investigation of genetic aetiology

  2002cited by this paper
• Individual Recombinant Thyroglobulin Type-1 Domains Are Substrates for Lysosomal Cysteine Proteinases

  2002cited by this paper
• A case report of prenatally diagnosed ophthalmo‐acromelic syndrome type Waardenburg

  2002cited by this paper
• Characterization of SMOC-1, a Novel Modular Calcium-binding Protein in Basement Membranes*

  2002cited by this paper
• Haploinsufficient Bmp4 ocular phenotypes include anterior segment dysgenesis with elevated intraocular pressure

  2001cited by this paper
• Ophthalmo-acromelic syndrome: report and review.

  2000cited by this paper
• Waardenburg anophthalmia syndrome: report and review.

  2000cited by this paper
• Thyroglobulin type‐I‐like domains in invariant chain fusion proteins mediate resistance to cathepsin L digestion

  2000cited by this paper
• Skeletal abnormalities in doubly heterozygous Bmp4 and Bmp7 mice.

  1998cited by this paper
• BMP4 is essential for lens induction in the mouse embryo.

  1998cited by this paper
• Ophthalmo-acromelic syndrome (Waardenburg) with split hand and polydactyly.

  1998cited by this paper
• Anophthalmia-Waardenburg syndrome: a report of three cases.

  1996cited by this paper
• Anophthalmos-syndactyly (Waardenburg) syndrome without oligodactyly of toes.

  1995cited by this paper
• Microphthalmia and distal limb abnormalities in a child of consanguineous parents.

  1994cited by this paper
• Waardenburg's recessive anophthalmia syndrome.

  1984cited by this paper
• A syndrome with true anophthalmia, hand-foot defects and mental retardation.

  1984cited by this paper
• Brief clinical report: autosomal recessive anophthalmia with multiple congenital abnormalities--type Waardenburg.

  1983cited by this paper

• Rare Variants in NR2F2 Cause Congenital Heart Defects in Humans.

  2016cites this paper
• Explorer A Secreted WNT-Ligand Binding Domain of FZD 5 Generated by a Frameshift Mutation Causes Autosomal Dominant Coloboma

  2016cites this paper
• SMOC1-induced osteoblast differentiation involves enhanced proliferation of human bone marrow mesenchymal stem cells

  2014cites this paper