(Q51904000)

17 April 2018

title

Neural crest-specific removal of Zfhx1b in mouse leads to a wide range of neurocristopathies reminiscent of Mowat-Wilson syndrome. (English)

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17 April 2018

author

Leo A van Grunsven

4

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17 April 2018

Danny Huylebroeck

5

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17 April 2018

author name string

Tom Van de Putte

1

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17 April 2018

Annick Francis

2

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17 April 2018

Luc Nelles

3

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17 April 2018

publication date

3 May 2007

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17 April 2018

published in

Human Molecular Genetics

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17 April 2018

volume

16

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17 April 2018

issue

12

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17 April 2018

page(s)

1423-1436

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17 April 2018

Mutations in SIP1, encoding Smad interacting protein-1, cause a form of Hirschsprung disease

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Mice lacking ZFHX1B, the gene that codes for Smad-interacting protein-1, reveal a role for multiple neural crest cell defects in the etiology of Hirschsprung disease-mental retardation syndrome

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Regulation of ocular lens development by Smad-interacting protein 1 involving Foxe3 activation

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The two-handed E box binding zinc finger protein SIP1 downregulates E-cadherin and induces invasion

21 January 2018

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21 January 2018

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Characterisation of deletions of the ZFHX1B region and genotype-phenotype analysis in Mowat-Wilson syndrome

21 January 2018

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A missense mutation in the ZFHX1B gene associated with an atypical Mowat-Wilson syndrome phenotype.

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Ocular coloboma and high myopia with Hirschsprung disease associated with a novel ZFHX1B missense mutation and trisomy 21.

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21 January 2018

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Defects in the kidney and enteric nervous system of mice lacking the tyrosine kinase receptor Ret

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21 January 2018

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21 January 2018

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Modification of gene activity in mouse embryos in utero by a tamoxifen-inducible form of Cre recombinase

21 January 2018

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BMP receptor IA is required in mammalian neural crest cells for development of the cardiac outflow tract and ventricular myocardium

21 January 2018

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The Wnt-1 (int-1) proto-oncogene is required for development of a large region of the mouse brain

21 January 2018

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Clinical features and management issues in Mowat-Wilson syndrome.

21 January 2018

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Neural crest origins of the neck and shoulder

21 January 2018

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Tissue origins and interactions in the mammalian skull vault

21 January 2018

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Developmental origins and evolution of jaws: new interpretation of "maxillary" and "mandibular".

21 January 2018

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A new origin for the maxillary jaw.

21 January 2018

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Organization of the mouse Zfhx1b gene encoding the two-handed zinc finger repressor Smad-interacting protein-1.

21 January 2018

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Compound developmental eye disorders following inactivation of TGFbeta signaling in neural-crest stem cells

21 January 2018

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Phenotypes of neural-crest-derived cells in vagal and sacral pathways.

21 January 2018

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The dopamine β-hydroxylase gene promoter directs expression of E. coli lacZ to sympathetic and other neurons in adult transgenic mice

21 January 2018

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Clinical and molecular analysis of Mowat-Wilson syndrome associated with ZFHX1B mutations and deletions at 2q22-q24.1.

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDM093

Neural crest cells contribute to normal aorticopulmonary septation

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDM093

Cardiac outflow tract defects in mice lacking ALK2 in neural crest cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM093

Neural crest and cardiovascular patterning.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM093

A bipotential neuroendocrine precursor whose choice of cell fate is determined by NGF and glucocorticoids.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM093

Differential expression of Islet-1 in neural crest-derived ganglia: Islet-1 + dorsal root ganglion cells are post-mitotic and Islet-1 + sympathetic ganglion cells are still cycling

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDM093

Cadherin-6 expression transiently delineates specific rhombomeres, other neural tube subdivisions, and neural crest subpopulations in mouse embryos

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDM093

Complementary expression pattern of Zfhx1 genes Sip1 and deltaEF1 in the mouse embryo and their genetic interaction revealed by compound mutants

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM093

Nonsense and frameshift mutations in ZFHX1B, encoding Smad-interacting protein 1, cause a complex developmental disorder with a great variety of clinical features

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM093

Hirschsprung disease, microcephaly, mental retardation, and characteristic facial features: delineation of a new syndrome and identification of a locus at chromosome 2q22-q23

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM093

?Mowat-Wilson? syndrome with and without Hirschsprung disease is a distinct, recognizable multiple congenital anomalies-mental retardation syndrome caused by mutations in the zinc finger homeo box 1B gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM093

Hirschsprung disease, mental retardation, characteristic facial features, and mutation in the gene ZFHX1B (SIP1): confirmation of the Mowat-Wilson syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM093

Neural crest derivatives in ocular and periocular structures

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM093

GFRalpha1 is an essential receptor component for GDNF in the developing nervous system and kidney

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM093

A single rostrocaudal colonization of the rodent intestine by enteric neuron precursors is revealed by the expression of Phox2b, Ret, and p75 and by explants grown under the kidney capsule or in organ culture

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM093

BMP signaling is required for septation of the outflow tract of the mammalian heart

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM093

Expression and regulation of type I BMP receptors during early avian sympathetic ganglion development

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM093

BMP-2 stimulates tyrosinase gene expression and melanogenesis in differentiated melanocytes

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM093

Generalized lacZ expression with the ROSA26 Cre reporter strain

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM093

Congenital heart disease in mice deficient for the DiGeorge syndrome region

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM093

21 January 2018

Identifiers

DOI

10.1093/HMG/DDM093

1 reference

17 April 2018

1 reference

17 April 2018