Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Zinkfinger E-box-bindende Homeobox 2

Das ZEB2-Gen kodiert einen Transkriptionsfaktor. Mutationen führen zum autosomal rezessiven Mowat-Wilson-Syndrom.

Diagnostik:

Clinic Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Research Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25
Probentyp genomic DNA
Clinic Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25
Probentyp genomic DNA

Krankheiten:

Mowat-Wilson-Syndrom
ZEB2

Referenzen:

1.

Nagase T et. al. (1998) Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro.

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2.

Mowat DR et. al. (1998) Hirschsprung disease, microcephaly, mental retardation, and characteristic facial features: delineation of a new syndrome and identification of a locus at chromosome 2q22-q23.

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3.

Verschueren K et. al. (1999) SIP1, a novel zinc finger/homeodomain repressor, interacts with Smad proteins and binds to 5'-CACCT sequences in candidate target genes.

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4.

Remacle JE et. al. (1999) New mode of DNA binding of multi-zinc finger transcription factors: deltaEF1 family members bind with two hands to two target sites.

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5.

Postigo AA et. al. (2000) Differential expression and function of members of the zfh-1 family of zinc finger/homeodomain repressors.

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6.

Wakamatsu N et. al. (2001) Mutations in SIP1, encoding Smad interacting protein-1, cause a form of Hirschsprung disease.

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7.

Comijn J et. al. (2001) The two-handed E box binding zinc finger protein SIP1 downregulates E-cadherin and induces invasion.

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8.

Cacheux V et. al. (2001) Loss-of-function mutations in SIP1 Smad interacting protein 1 result in a syndromic Hirschsprung disease.

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9.

Yamada K et. al. (2001) Nonsense and frameshift mutations in ZFHX1B, encoding Smad-interacting protein 1, cause a complex developmental disorder with a great variety of clinical features.

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10.

Amiel J et. al. (2001) Large-scale deletions and SMADIP1 truncating mutations in syndromic Hirschsprung disease with involvement of midline structures.

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11.

Zweier C et. al. (2002) "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.

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12.

Yoneda M et. al. (2002) Late infantile Hirschsprung disease-mental retardation syndrome with a 3-bp deletion in ZFHX1B.

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13.

Van de Putte T et. al. (2003) 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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14.

Lin SY et. al. (2003) Multiple tumor suppressor pathways negatively regulate telomerase.

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15.

Zweier C et. al. (2003) Characterisation of deletions of the ZFHX1B region and genotype-phenotype analysis in Mowat-Wilson syndrome.

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16.

Ishihara N et. al. (2004) Clinical and molecular analysis of Mowat-Wilson syndrome associated with ZFHX1B mutations and deletions at 2q22-q24.1.

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17.

McGaughran J et. al. (2005) Recurrence of Mowat-Wilson syndrome in siblings with the same proven mutation.

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18.

Vandewalle C et. al. (2005) SIP1/ZEB2 induces EMT by repressing genes of different epithelial cell-cell junctions.

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19.

Zweier C et. al. (2006) Atypical ZFHX1B mutation associated with a mild Mowat-Wilson syndrome phenotype.

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20.

Heinritz W et. al. (2006) A missense mutation in the ZFHX1B gene associated with an atypical Mowat-Wilson syndrome phenotype.

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21.

Dastot-Le Moal F et. al. (2007) ZFHX1B mutations in patients with Mowat-Wilson syndrome.

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22.

Kato M et. al. (2007) MicroRNA-192 in diabetic kidney glomeruli and its function in TGF-beta-induced collagen expression via inhibition of E-box repressors.

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23.

Van de Putte T et. al. (2007) Neural crest-specific removal of Zfhx1b in mouse leads to a wide range of neurocristopathies reminiscent of Mowat-Wilson syndrome.

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24.

Verstappen G et. al. (2008) Atypical Mowat-Wilson patient confirms the importance of the novel association between ZFHX1B/SIP1 and NuRD corepressor complex.

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25.

Beltran M et. al. (2008) A natural antisense transcript regulates Zeb2/Sip1 gene expression during Snail1-induced epithelial-mesenchymal transition.

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26.

Park SM et. al. (2008) The miR-200 family determines the epithelial phenotype of cancer cells by targeting the E-cadherin repressors ZEB1 and ZEB2.

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27.

Seuntjens E et. al. (2009) Sip1 regulates sequential fate decisions by feedback signaling from postmitotic neurons to progenitors.

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28.

Renthal NE et. al. (2010) miR-200 family and targets, ZEB1 and ZEB2, modulate uterine quiescence and contractility during pregnancy and labor.

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29.

El-Kasti MM et. al. (2012) A novel long-range enhancer regulates postnatal expression of Zeb2: implications for Mowat-Wilson syndrome phenotypes.

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30.

Ghoumid J et. al. (2013) ZEB2 zinc-finger missense mutations lead to hypomorphic alleles and a mild Mowat-Wilson syndrome.

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