Mutations in the SPARC-related modular calcium-binding protein 1 gene, SMOC1, cause waardenburg anophthalmia syndrome (Q34458826)

2 August 2017

Mutations in the SPARC-related modular calcium-binding protein 1 gene, SMOC1, cause waardenburg anophthalmia syndrome (English)

1 reference

SPARC related modular calcium binding 1

2 August 2017

1 reference

GOA release 2020-03-11

author name string

Hana Abouzeid

1

1 reference

2 August 2017

Gaëlle Boisset

2

1 reference

2 August 2017

Tatiana Favez

3

1 reference

2 August 2017

Mohamed Youssef

4

1 reference

2 August 2017

Iman Marzouk

5

1 reference

2 August 2017

Nihal Shakankiry

6

1 reference

2 August 2017

Nader Bayoumi

7

1 reference

2 August 2017

Patrick Descombes

8

1 reference

2 August 2017

Céline Agosti

9

1 reference

2 August 2017

Francis L Munier

10

1 reference

2 August 2017

Daniel F Schorderet

11

1 reference

2 August 2017

language of work or name

English

0 references

publication date

30 December 2010

1 reference

American Journal of Human Genetics

2 August 2017

1 reference

2 August 2017

88

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2 August 2017

1

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2 August 2017

92-98

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Eye morphogenesis and patterning of the optic vesicle

2 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3014360

A male with unilateral microphthalmia reveals a role for TMX3 in eye development

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3014360

Secretome analysis of human BMSCs and identification of SMOC1 as an important ECM protein in osteoblast differentiation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3014360

Mutation of the bone morphogenetic protein GDF3 causes ocular and skeletal anomalies

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3014360

Mutations in CNNM4 cause recessive cone-rod dystrophy with amelogenesis imperfecta

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3014360

Incomplete penetrance and phenotypic variability characterize Gdf6-attributable oculo-skeletal phenotypes

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3014360

Recombinant human SMOCs produced by in vitro refolding: calcium-binding properties and interactions with serum proteins.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3014360

Mutations in BMP4 cause eye, brain, and digit developmental anomalies: overlap between the BMP4 and hedgehog signaling pathways

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3014360

Anophthalmos with limb anomalies (Waardenburg opththalmo-acromelic syndrome): report of a new Italian case with renal anomaly and review.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3014360

Developmental malformations of the eye: the role of PAX6, SOX2 and OTX2

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3014360

Heterozygous mutations of OTX2 cause severe ocular malformations

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3014360

Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3014360

Mutations in the human RAX homeobox gene in a patient with anophthalmia and sclerocornea

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3014360

The genetic and molecular basis of congenital eye defects

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3014360

Mutations in SOX2 cause anophthalmia

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3014360

Human microphthalmia associated with mutations in the retinal homeobox gene CHX10

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3014360

Ophthalmo-acromelic syndrome: report and review

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3014360

A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3014360

Requirement for the c-Maf transcription factor in crystallin gene regulation and lens development

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3014360

Fibulin-1 and fibulin-2 expression during organogenesis in the developing mouse embryo

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3014360

Cloning of MITF, the human homolog of the mouse microphthalmia gene and assignment to chromosome 3p14.1-p12.3.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3014360

Osteonectin, a bone-specific protein linking mineral to collagen

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3014360

Deletion 14q (q22q23) associated with anophthalmia, absent pituitary, and other abnormalities

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3014360

Wnt signaling in eye organogenesis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3014360

Analysis of the developmental SIX6 homeobox gene in patients with anophthalmia/microphthalmia.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3014360

[Recessive, sex-limited microphthalmia with multiple abnormalities]

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3014360

Characterization of SMOC-1, a novel modular calcium-binding protein in basement membranes.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3014360

Mice deficient for the secreted glycoprotein SPARC/osteonectin/BM40 develop normally but show severe age-onset cataract formation and disruption of the lens

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3014360

Split-foot anomaly, microphthalmia, cleft-lip and cleft-palate, and mental retardation associated with a chromosome 6;13 translocation.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3014360

Anophthalmos-syndactyly (Waardenburg) syndrome without oligodactyly of toes

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3014360

Bilateral pulmonary agenesis

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3014360

Interaction between angiogenin and fibulin 1: evidence and implication

9 December 2018

1 reference

12 December 2020

A locus for ophthalmo-acromelic syndrome mapped to 10p11.23

1 reference

12 December 2020

Waardenburg's recessive anophthalmia syndrome

1 reference

12 December 2020

Anophthalmia-Waardenburg syndrome: a report of three cases

1 reference

12 December 2020

X-linked clinical anophthalmos Localization of the gene to Xq27-Xq28

1 reference

12 December 2020

Ophthalmo-acromelic syndrome (Waardenburg) with split hand and polydactyly

1 reference

12 December 2020

Ophthalmo-acromelic syndrome

1 reference

12 December 2020

Microphthalmia and distal limb abnormalities in a child of consanguineous parents

1 reference

12 December 2020

Brief clinical report: autosomal recessive anophthalmia with multiple congenital abnormalities--type Waardenburg

1 reference

12 December 2020

10.1016/J.AJHG.2010.12.002

Identifiers

DOI

1 reference

2 August 2017

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2 August 2017

1 reference