Mutation of SALL2 causes recessive ocular coloboma in humans and mice (Q24319044)

GOA release 2020-03-11

eye development

1 reference

GOA release 2020-03-11

author

Elia Stupka

8

0 references

Alki Liasis

Alki Liasis

14

0 references

Jane Sowden

Jane C Sowden

18

0 references

Francesco Lescai

Francesco Lescai

6

0 references

Lily Islam

2

Lily Islam

0 references

Ken K Nischal

17

Ken K Nischal

0 references

Daniel Kelberman

1

Daniel Kelberman

0 references

Maria Bitner-Glindzicz

13

Maria Bitner-Glindzicz

0 references

author name string

Jörn Lakowski

3

0 references

Chiara Bacchelli

4

0 references

Estelle Chanudet

5

0 references

Aara Patel

7

0 references

Anja Buck

9

0 references

Stephan Wolf

10

0 references

Philip L Beales

11

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Thomas S Jacques

12

0 references

Ordan J Lehmann

15

0 references

Jürgen Kohlhase

ABCB6 mutations cause ocular coloboma

16

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language of work or name

English

0 references

publication date

15 May 2014

0 references

published in

Human Molecular Genetics

0 references

volume

23

0 references

issue

10

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page(s)

2511-26

0 references

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990155

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990155

Sall2 is a novel p75NTR-interacting protein that links NGF signalling to cell cycle progression and neurite outgrowth

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990155

GDF6, a novel locus for a spectrum of ocular developmental anomalies

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990155

Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990155

Heterozygous mutations of OTX2 cause severe ocular malformations

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990155

p150(Sal2) is a p53-independent regulator of p21(WAF1/CIP)

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990155

Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990155

Molecular analysis of SALL1 mutations in Townes-Brocks syndrome

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990155

Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990155

Loss of the BMP antagonist, SMOC-1, causes Ophthalmo-acromelic (Waardenburg Anophthalmia) syndrome in humans and mice

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990155

First implication of STRA6 mutations in isolated anophthalmia, microphthalmia, and coloboma: a new dimension to the STRA6 phenotype

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990155

Regulation and function of Spalt proteins during animal development

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990155

Sall1, sall2, and sall4 are required for neural tube closure in mice

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990155

The vertebrate spalt genes in development and disease

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990155

SALL1 mutation analysis in Townes-Brocks syndrome: twelve novel mutations and expansion of the phenotype

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990155

CHX10 mutations cause non-syndromic microphthalmia/ anophthalmia in Arab and Jewish kindreds

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990155

Okihiro syndrome is caused by SALL4 mutations

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990155

Vax2 inactivation in mouse determines alteration of the eye dorsal-ventral axis, misrouting of the optic fibres and eye coloboma

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990155

Domain disruption and mutation of the bZIP transcription factor, MAF, associated with cataract, ocular anterior segment dysgenesis and coloboma

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990155

Murine homolog of SALL1 is essential for ureteric bud invasion in kidney development

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990155

Isolation, characterization, and organ-specific expression of two novel human zinc finger genes related to the Drosophila gene spalt

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990155

Pax2 contributes to inner ear patterning and optic nerve trajectory

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990155

The I.M.A.G.E. Consortium: an integrated molecular analysis of genomes and their expression

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990155

Frizzled 1 and frizzled 2 genes function in palate, ventricular septum and neural tube closure: general implications for tissue fusion processes

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990155

Mutations within Sox2/SOX2 are associated with abnormalities in the hypothalamo-pituitary-gonadal axis in mice and humans

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990155

Zinc finger protein sall2 is not essential for embryonic and kidney development

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990155

Pax-6, a murine paired box gene, is expressed in the developing CNS

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990155

Bcl6a function is required during optic cup formation to prevent p53-dependent apoptosis and colobomata

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990155

Mutations in c12orf57 cause a syndromic form of colobomatous microphthalmia

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990155

ALDH1A3 mutations cause recessive anophthalmia and microphthalmia

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990155

Exome analysis identified a novel mutation in the RBP4 gene in a consanguineous pedigree with retinal dystrophy and developmental abnormalities

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990155

Gene networks: dissecting pathways in retinal development and disease

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990155

Homozygous SALL1 mutation causes a novel multiple congenital anomaly-mental retardation syndrome

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990155

Regulation of cytoplasmic mRNA decay

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990155

Pax2 regulates a fadd-dependent molecular switch that drives tissue fusion during eye development

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990155

Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990155

Anophthalmos, microphthalmos, and Coloboma in the United kingdom: clinical features, results of investigations, and early management

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990155

DNA-binding and regulatory properties of the transcription factor and putative tumor suppressor p150(Sal2).

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990155

EUROCAT website data on prenatal detection rates of congenital anomalies

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990155

Anophthalmos, microphthalmos, and typical coloboma in the United Kingdom: a prospective study of incidence and risk

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990155

Sequence alterations in RX in patients with microphthalmia, anophthalmia, and coloboma

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990155

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990155

Uveal coloboma: clinical and basic science update

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990155

Nonsense-mediated mRNA decay in mammals

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990155

Ocular coloboma: a reassessment in the age of molecular neuroscience

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990155

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990155

JNK initiates a cytokine cascade that causes Pax2 expression and closure of the optic fissure

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990155

Mutations of the PAX6 Gene Detected in Patients with a Variety of Optic-Nerve Malformations

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990155

Mutations in SOX2 cause anophthalmia

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990155

The familial contribution to non-syndromic ocular coloboma in south India

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990155

Environmental risk factors in congenital malformations of the eye.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990155

National study of microphthalmia, anophthalmia, and coloboma (MAC) in Scotland: investigation of genetic aetiology

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990155

Cloning and characterization of two promoters for the human HSAL2 gene and their transcriptional repression by the Wilms tumor suppressor gene product

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990155

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990155

Geographical variation in anophthalmia and microphthalmia in England, 1988-94

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990155

Pax2 expression and retinal morphogenesis in the normal and Krd mouse

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990155

The prenatal development of the human eye

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990155

Congenital eye malformations in 212,479 consecutive births.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990155

Dectin-1 is an extracellular pathogen sensor for the induction and processing of IL-1β via a noncanonical caspase-8 inflammasome

30 May 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT643

Organogenesis of mild ocular coloboma in FLS mice: failure of basement membrane disintegration at optic fissure margins

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT643

Drosophila Sal and Salr are transcriptional repressors.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT643

Sall3 plays essential roles in horizontal cell maturation through regulation of neurofilament expression levels.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT643

Molecular analysis of the HEXA gene in Italian patients with infantile and late onset Tay-Sachs disease: detection of fourteen novel alleles.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT643

Mutations in ALDH1A3 cause microphthalmia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT643

Novel heterozygous OTX2 mutations and whole gene deletions in anophthalmia, microphthalmia and coloboma

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT643

Microphthalmia, anophthalmia, and coloboma and associated ocular and systemic features: understanding the spectrum

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT643

The Sall2 transcription factor is a novel p75NTR binding protein that promotes the development and function of neurons.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT643

Effect of p75NTR on the regulation of naturally occurring cell death and retinal ganglion cell number in the mouse eye.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT643

A homozygous mutation in a consanguineous family consolidates the role of ALDH1A3 in autosomal recessive microphthalmia.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990155

Expression of three spalt (sal) gene homologues in zebrafish embryos

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990155

Novel mutation in sonic hedgehog in non-syndromic colobomatous microphthalmia.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990155

Congenital eye malformations: clinical-epidemiological analysis of 1,124,654 consecutive births in Spain

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990155

Optic fissure closure in the normal cinnamon mouse. An ultrastructural study

29 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24412933

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Spatially and temporally restricted expression of Pax2 during murine neurogenesis

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24412933

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Congenital eye malformations: Clinical-epidemiological analysis of 1,124,654 consecutive births in Spain

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT643