Verslag – Rapport – Bericht – Report - GSKE - FMRE

List of literature references used in this year 2 report
1. Mowat DR, Croaker GD, Cass DT, Kerr BA, Chaitow J, Adès LC, Chia NL, Wilson MJ. Hirschsprung disease, microcephaly,
mental retardation, and characteristic facial features: delineation of a new syndrome and identification of a locus at
chromosome 2q22-q23. J Med Genet. 1998 Aug;35(8):617-23
2. Cacheux V, Dastot-Le Moal F, Kääriäinen H, Bondurand N, Rintala R, Boissier B, Wilson M, Mowat D, Goossens M.
Loss-of-function mutations in SIP1 Smad interacting protein 1 result in a syndromic Hirschsprung disease. Hum Mol
Genet. 2001 Jul 1;10(14):1503-10.
3. Wakamatsu N, Yamada Y, Yamada K, Ono T, Nomura N, Taniguchi H, Kitoh H, Mutoh N, Yamanaka T, Mushiake K, Kato
K, Sonta S, Nagaya M. Mutations in SIP1, encoding Smad interacting protein-1, cause a form of Hirschsprung disease.
Nat Genet. 2001 Apr;27(4):369-70.
4. Van de Putte T, Francis A, Nelles L, van Grunsven LA, Huylebroeck D. Neural crest-specific removal of Zfhx1b in
mouse leads to a wide range of neurocristopathies reminiscent of Mowat-Wilson syndrome. Hum Mol Genet. 2007 Jun
15;16(12):1423-36.
5. Jeub M, Emrich M, Pradier B, Taha O, Gailus-Durner V, Fuchs H, de Angelis MH, Huylebroeck D, Zimmer A, Beck
H, Racz I. The transcription factor Smad-interacting protein 1 controls pain sensitivity via modulation of DRG neuron
excitability. Pain. 2011 Oct;152(10):2384-98
6. Evans E, Einfeld S, Mowat D, Taffe J, Tonge B, Wilson M. The behavioral phenotype of Mowat-Wilson syndrome. Am J
Med Genet A. 2012 Feb;158A(2):358-66.
7. Garavelli L, Zollino M, Mainardi PC, Gurrieri F, Rivieri F, Soli F, Verri R, Albertini E, Favaron E, Zignani M, Orteschi D, Bianchi
P, Faravelli F, Forzano F, Seri M, Wischmeijer A, Turchetti D, Pompilii E, Gnoli M, Cocchi G, Mazzanti L, Bergamaschi
R, De Brasi D, Sperandeo MP, Mari F, Uliana V, Mostardini R, Cecconi M, Grasso M, Sassi S, Sebastio G, Renieri A,
Silengo M, Bernasconi S, Wakamatsu N, Neri G. Mowat-Wilson syndrome: facial phenotype changing with age: study of
19 Italian patients and review of the literature. Am J Med Genet A. 2009 Mar;149A(3):417-26.
8. Verschueren K, Remacle JE, Collart C, Kraft H, Baker BS, Tylzanowski P, Nelles L, Wuytens G, Su MT, Bodmer R,
Smith JC, Huylebroeck D. SIP1, a novel zinc finger/homeodomain repressor, interacts with Smad proteins and binds to
5’-CACCT sequences in candidate target genes. J Biol Chem. 1999 Jul 16;274(29):20489-98.
9. Conidi A, Cazzola S, Beets K, Coddens K, Collart C, Cornelis F, Cox L, Joke D, Dobreva MP, Dries R, Esguerra C, Francis
A, Ibrahimi A, Kroes R, Lesage F, Maas E, Moya I, Pereira PN, Stappers E, Stryjewska A, van den Berghe V, Vermeire
L, Verstappen G, Seuntjens E, Umans L, Zwijsen A, Huylebroeck D. Few Smad proteins and many Smad-interacting
proteins yield multiple functions and action modes in TGFβ/BMP signaling in vivo. Cytokine Growth Factor Rev. 2011
Oct-Dec;22(5-6):287-300.
10. Remacle JE, Kraft H, Lerchner W, Wuytens G, Collart C, Verschueren K, Smith JC, Huylebroeck D. New mode of DNA
binding of multi-zinc finger transcription factors: deltaEF1 family members bind with two hands to two target sites. EMBO
J. 1999 Sep 15;18(18):5073-84.
11. van Grunsven LA, Taelman V, Michiels C, Verstappen G, Souopgui J, Nichane M, Moens E, Opdecamp K, Vanhomwegen
J, Kricha S, Huylebroeck D, Bellefroid EJ. XSip1 neuralizing activity involves the co-repressor CtBP and occurs through
BMP dependent and independent mechanisms. Dev Biol. 2007 Jun 1;306(1):34-49.
12. Verstappen G, van Grunsven LA, Michiels C, Van de Putte T, Souopgui J, Van Damme J, Bellefroid E, Vandekerckhove
J, Huylebroeck D. Atypical Mowat-Wilson patient confirms the importance of the novel association between ZFHX1B/
SIP1 and NuRD corepressor complex. Hum Mol Genet. 2008 Apr 15;17(8):1175-83.
13. van Grunsven LA, Taelman V, Michiels C, Opdecamp K, Huylebroeck D, Bellefroid EJ. deltaEF1 and SIP1 are differentially
expressed and have overlapping activities during Xenopus embryogenesis. Dev Dyn. 2006 Jun;235(6):1491-500.
14. Bracken CP, Gregory PA, Kolesnikoff N, Bert AG, Wang J, Shannon MF, Goodall GJ. A double-negative feedback loop
between ZEB1-SIP1 and the microRNA-200 family regulates epithelial-mesenchymal transition. Cancer Res. 2008 Oct
1;68(19):7846-54.
15. Park SM, Gaur AB, Lengyel E, Peter ME. The miR-200 family determines the epithelial phenotype of cancer cells by
targeting the E-cadherin repressors ZEB1 and ZEB2. Genes Dev. 2008 Apr 1;22(7):894-907. Erratum in: Genes Dev.
2009 Jun 1;23(11):1378.
16. Gregory PA, Bert AG, Paterson EL, Barry SC, Tsykin A, Farshid G, Vadas MA, Khew-Goodall Y, Goodall GJ. The miR-
200 family and miR-205 regulate epithelial to mesenchymal transition by targeting ZEB1 and SIP1. Nat Cell Biol. 2008
May;10(5):593-601.
17. Christoffersen NR, Silahtaroglu A, Orom UA, Kauppinen S, Lund AH. miR-200b mediates post-transcriptional repression
of ZFHX1B. RNA. 2007 Aug;13(8):1172-8.
18. Polytarchou C, Iliopoulos D, Struhl K. An integrated transcriptional regulatory circuit that reinforces the breast cancer
stem cell state. Proc Natl Acad Sci USA. 2012 Sep 4;109(36):14470-5.
19. Van de Putte T, Maruhashi M, Francis A, Nelles L, Kondoh H, Huylebroeck D, Higashi Y. 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
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Verslag – Rapport – Report 2012