Gene Review:
ZEB2 - zinc finger E-box binding homeobox 2
Homo sapiens
Synonyms:
HRIHFB2411, HSPC082, KIAA0569, SIP-1, SIP1, ...
Christmas,
Carlesso,
Shang,
Cheng,
Weber,
Preffer,
Scadden,
Soberman,
Garavelli,
Cerruti-Mainardi,
Virdis,
Pedori,
Pastore,
Godi,
Provera,
Rauch,
Zweier,
Zollino,
Banchini,
Longo,
Mowat,
Neri,
Bernasconi,
Wilson,
Mowat,
Dastot-Le Moal,
Cacheux,
Kääriäinen,
Cass,
Donnai,
Clayton-Smith,
Townshend,
Curry,
Gattas,
Braddock,
Kerr,
Aftimos,
Zehnwirth,
Barrey,
Goossens,
- Nonsense and frameshift mutations in ZFHX1B, encoding Smad-interacting protein 1, cause a complex developmental disorder with a great variety of clinical features. Yamada, K., Yamada, Y., Nomura, N., Miura, K., Wakako, R., Hayakawa, C., Matsumoto, A., Kumagai, T., Yoshimura, I., Miyazaki, S., Kato, K., Sonta, S., Ono, H., Yamanaka, T., Nagaya, M., Wakamatsu, N. Am. J. Hum. Genet. (2001)
- Pleiotropic and diverse expression of ZFHX1B gene transcripts during mouse and human development supports the various clinical manifestations of the "Mowat-Wilson" syndrome. Bassez, G., Camand, O.J., Cacheux, V., Kobetz, A., Dastot-Le Moal, F., Marchant, D., Catala, M., Abitbol, M., Goossens, M. Neurobiol. Dis. (2004)
- Clinical and mutational spectrum of Mowat-Wilson syndrome. Zweier, C., Thiel, C.T., Dufke, A., Crow, Y.J., Meinecke, P., Suri, M., Ala-Mello, S., Beemer, F., Bernasconi, S., Bianchi, P., Bier, A., Devriendt, K., Dimitrov, B., Firth, H., Gallagher, R.C., Garavelli, L., Gillessen-Kaesbach, G., Hudgins, L., Kääriäinen, H., Karstens, S., Krantz, I., Mannhardt, A., Medne, L., Mücke, J., Kibaek, M., Krogh, L.N., Peippo, M., Rittinger, O., Schulz, S., Schelley, S.L., Temple, I.K., Dennis, N.R., Van der Knaap, M.S., Wheeler, P., Yerushalmi, B., Zenker, M., Seidel, H., Lachmeijer, A., Prescott, T., Kraus, C., Lowry, R.B., Rauch, A. European journal of medical genetics. (2005)
- Further delineation of the phenotype associated with heterozygous mutations in ZFHX1B. Wilson, M., Mowat, D., Dastot-Le Moal, F., Cacheux, V., Kääriäinen, H., Cass, D., Donnai, D., Clayton-Smith, J., Townshend, S., Curry, C., Gattas, M., Braddock, S., Kerr, B., Aftimos, S., Zehnwirth, H., Barrey, C., Goossens, M. Am. J. Med. Genet. A (2003)
- New mode of DNA binding of multi-zinc finger transcription factors: deltaEF1 family members bind with two hands to two target sites. Remacle, J.E., Kraft, H., Lerchner, W., Wuytens, G., Collart, C., Verschueren, K., Smith, J.C., Huylebroeck, D. EMBO J. (1999)
- Large-scale deletions and SMADIP1 truncating mutations in syndromic Hirschsprung disease with involvement of midline structures. Amiel, J., Espinosa-Parrilla, Y., Steffann, J., Gosset, P., Pelet, A., Prieur, M., Boute, O., Choiset, A., Lacombe, D., Philip, N., Le Merrer, M., Tanaka, H., Till, M., Touraine, R., Toutain, A., Vekemans, M., Munnich, A., Lyonnet, S. Am. J. Hum. Genet. (2001)
- "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. Zweier, C., Albrecht, B., Mitulla, B., Behrens, R., Beese, M., Gillessen-Kaesbach, G., Rott, H.D., Rauch, A. Am. J. Med. Genet. (2002)
- Genitourinary anomalies in Mowat-Wilson syndrome with deletion/mutation in the zinc finger homeo box 1B gene (ZFHX1B). Report of three Italian cases with hypospadias and review. Garavelli, L., Cerruti-Mainardi, P., Virdis, R., Pedori, S., Pastore, G., Godi, M., Provera, S., Rauch, A., Zweier, C., Zollino, M., Banchini, G., Longo, N., Mowat, D., Neri, G., Bernasconi, S. Horm. Res. (2005)
- Clinical features of a form of Hirschsprung's disease caused by a novel genetic abnormality. Nagaya, M., Kato, J., Niimi, N., Tanaka, S., Wakamatsu, N. J. Pediatr. Surg. (2002)
- Expression of the SMADIP1 gene during early human development. Espinosa-Parrilla, Y., Amiel, J., Augé, J., Encha-Razavi, F., Munnich, A., Lyonnet, S., Vekemans, M., Attié-Bitach, T. Mech. Dev. (2002)
- Molecular screening of the ZFHX1B gene in prenatally diagnosed isolated agenesis of the corpus callosum. Espinosa-Parrilla, Y., Encha-Razavi, F., Attié-Bitach, T., Martinovic, J., Morichon-Delvallez, N., Munnich, A., Vekemans, M., Lyonnet, S., Amiel, J. Prenat. Diagn. (2004)
- Variations in aganglionic segment length of the enteric neural plexus in Mowat-Wilson syndrome. Ishihara, N., Shimada, A., Kato, J., Niimi, N., Tanaka, S., Miura, K., Suzuki, T., Wakamatsu, N., Nagaya, M. J. Pediatr. Surg. (2005)
- Differential expression and function of members of the zfh-1 family of zinc finger/homeodomain repressors. Postigo, A.A., Dean, D.C. Proc. Natl. Acad. Sci. U.S.A. (2000)
- Myeloid expression of cytochrome P450 4F3 is determined by a lineage-specific alternative promoter. Christmas, P., Carlesso, N., Shang, H., Cheng, S.M., Weber, B.M., Preffer, F.I., Scadden, D.T., Soberman, R.J. J. Biol. Chem. (2003)
- Pc2-mediated sumoylation of Smad-interacting protein 1 attenuates transcriptional repression of E-cadherin. Long, J., Zuo, D., Park, M. J. Biol. Chem. (2005)
- Snail, Slug, and Smad-interacting protein 1 as novel parameters of disease aggressiveness in metastatic ovarian and breast carcinoma. Elloul, S., Elstrand, M.B., Nesland, J.M., Tropé, C.G., Kvalheim, G., Goldberg, I., Reich, R., Davidson, B. Cancer (2005)
- Expression of SIP1 in oral squamous cell carcinomas: implications for E-cadherin expression and tumor progression. Maeda, G., Chiba, T., Okazaki, M., Satoh, T., Taya, Y., Aoba, T., Kato, K., Kawashiri, S., Imai, K. Int. J. Oncol. (2005)
- An essential SMN interacting protein (SIP1) is not involved in the phenotypic variability of spinal muscular atrophy (SMA). Helmken, C., Wetter, A., Rudnik-Schöneborn, S., Liehr, T., Zerres, K., Wirth, B. Eur. J. Hum. Genet. (2000)
- Identification and characterization of the carboxy-terminal region of Sip-1, a novel autoantigen in Behçet's disease. Delunardo, F., Conti, F., Margutti, P., Alessandri, C., Priori, R., Siracusano, A., Riganò, R., Profumo, E., Valesini, G., Sorice, M., Ortona, E. Arthritis Res. Ther. (2006)