ZFIN

ZFIN ID: ZDB-GENE-030131-6070

CITATIONS (38 total)

Gene Name:	NIPBL cohesin loading factor b
Gene Symbol:	nipblb

Gu, W., Wang, L., Gu, R., Ouyang, H., Bao, B., Zheng, L., Xu, B. (2021) Defects of cohesin loader lead to bone dysplasia associated with transcriptional disturbance. Journal of Cellular Physiology. 236(12):8208-8225

Mazzola, M., Pezzotta, A., Fazio, G., Rigamonti, A., Bresciani, E., Gaudenzi, G., Pelleri, M.C., Saitta, C., Ferrari, L., Parma, M., Fumagalli, M., Biondi, A., Cazzaniga, G., Marozzi, A., Pistocchi, A. (2020) Dysregulation of NIPBL leads to impaired RUNX1 expression and haematopoietic defects. Journal of Cellular and Molecular Medicine. 24(11):6272-6282

Spreafico, M., Mangano, E., Mazzola, M., Consolandi, C., Bordoni, R., Battaglia, C., Bicciato, S., Marozzi, A., Pistocchi, A. (2020) The Genome-Wide Impact of Nipblb Loss-of-Function on Zebrafish Gene Expression. International Journal of Molecular Sciences. 21(24):

Mazzola, M., Deflorian, G., Pezzotta, A., Ferrari, L., Fazio, G., Bresciani, E., Saitta, C., Ferrari, L., Fumagalli, M., Parma, M., Marasca, F., Bodega, B., Riva, P., Cotelli, F., Biondi, A., Marozzi, A., Cazzaniga, G., Pistocchi, A. (2019) NIPBL: a new player in myeloid cells differentiation. Haematologica. 104(7):1332-1341

Fazio, G., Gaston-Massuet, C., Bettini, L.R., Graziola, F., Scagliotti, V., Cereda, A., Ferrari, L., Mazzola, M., Cazzaniga, G., Giordano, A., Cotelli, F., Bellipanni, G., Biondi, A., Selicorni, A., Pistocchi, A., Massa, V. (2016) CyclinD1 Down Regulation and Increased Apoptosis Are Common Features of Cohesinopathies. Journal of Cellular Physiology. 231(3):613-22

Kawauchi, S., Santos, R., Muto, A., Lopez-Burks, M.E., Schilling, T.F., Lander, A.D., Calof, A.L. (2016) Using mouse and zebrafish models to understand the etiology of developmental defects in Cornelia de Lange Syndrome. American journal of medical genetics. Part C, Seminars in medical genetics. 172(2):138-45

Elkon, R., Milon, B., Morrison, L., Shah, M., Vijayakumar, S., Racherla, M., Leitch, C.C., Silipino, L., Hadi, S., Weiss-Gayet, M., Barras, E., Schmid, C.D., Ait-Lounis, A., Barnes, A., Song, Y., Eisenman, D.J., Eliyahu, E., Frolenkov, G.I., Strome, S.E., Durand, B., Zaghloul, N.A., Jones, S.M., Reith, W., Hertzano, R. (2015) RFX transcription factors are essential for hearing in mice. Nature communications. 6:8549

Xu, B., Sowa, N., Cardenas, M.E., Gerton, J.L. (2015) L-leucine partially rescues translational and developmental defects associated with zebrafish models of Cornelia de Lange syndrome. Human molecular genetics. 24(6):1540-55

Fontenille, L., Rouquier, S., Lutfalla, G., Giorgi, D. (2014) Microtubule-associated protein 9 (Map9/Asap) is required for the early steps of zebrafish development. Cell cycle (Georgetown, Tex.). 13(7):1101-14

Muto, A., Ikeda, S., Lopez-Burks, M.E., Kikuchi, Y., Calof, A.L., Lander, A.D., Schilling, T.F. (2014) Nipbl and Mediator Cooperatively Regulate Gene Expression to Control Limb Development. PLoS Genetics. 10:e1004671

Khodiyar, V.K., Howe, D., Talmud, P.J., Breckenridge, R., Lovering, R.C. (2013) From zebrafish heart jogging genes to mouse and human orthologs: using Gene Ontology to investigate mammalian heart development.. F1000 Research. 2:1-17

Pistocchi, A., Fazio, G., Cereda, A., Ferrari, L., Bettini, L.R., Messina, G., Cotelli, F., Biondi, A., Selicorni, A., and Massa, V. (2013) Cornelia de Lange Syndrome: NIPBL haploinsufficiency downregulates canonical Wnt pathway in zebrafish embryos and patients fibroblasts. Cell Death & Disease. 4:e866

Varshney, G.K., Lu, J., Gildea, D., Huang, H., Pei, W., Yang, Z., Huang, S.C., Schoenfeld, D.S., Pho, N., Casero, D., Hirase, T., Mosbrook-Davis, D.M., Zhang, S., Jao, L.E., Zhang, B., Woods, I.G., Zimmerman, S., Schier, A.F., Wolfsberg, T., Pellegrini, M., Burgess, S.M., and Lin, S. (2013) A large-scale zebrafish gene knockout resource for the genome-wide study of gene function. Genome research. 23(4):727-735

Muto, A., Calof, A.L., Lander, A.D., and Schilling, T.F. (2011) Multifactorial Origins of Heart and Gut Defects in nipbl-Deficient Zebrafish, a Model of Cornelia de Lange Syndrome. PLoS Biology. 9(10):e1001181

Wang, D., Jao, L.E., Zheng, N., Dolan, K., Ivey, J., Zonies, S., Wu, X., Wu, K., Yang, H., Meng, Q., Zhu, Z., Zhang, B., Lin, S., and Burgess, S.M. (2007) Efficient genome-wide mutagenesis of zebrafish genes by retroviral insertions. Proceedings of the National Academy of Sciences of the United States of America. 104(30):12428-12433

Tonkin, E.T., Wang, T.J., Lisgo, S., Bamshad, M.J., and Strachan, T. (2004) NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome. Nature Genetics. 36(6):636-641

Additional Citations (22):

ZFIN Staff (2023) Automated Curation of UniProt Database Links. Automated Data Submission.

ZFIN Staff (2022) Electronic Gene Ontology annotations created by ARBA machine learning models. Automated Data Submission.

ZFIN Staff (2020) Addition of links from ZFIN to Expression Atlas. Semi-automated Curation.

ZFIN Staff (2019) Curation of genomic coordinates and sequences of directly submitted alleles.. Manually curated data.

Zebrafish Nomenclature Committee (2018) Nomenclature Data Curation (2018). Nomenclature Committee Submission.

ZFIN Staff (2017) Curation of PANTHER Gene IDs. Automated Data Submission.

ZFIN Staff (2017) Curation of Alliance of Genome Resources Database Links. Automated Data Submission.

Busch-Nentwich, E., Kettleborough, R., Dooley, C. M., Scahill, C., Sealy, I., White, R., Herd, C., Mehroke, S., Wali, N., Carruthers, S., Hall, A., Collins, J., Gibbons, R., Pusztai, Z., Clark, R., and Stemple, D.L. (2013) Sanger Institute Zebrafish Mutation Project mutant data submission. ZFIN Direct Data Submission.

ZFIN Staff (2013) Semi-automated association of ENSDARG identifiers with ZFIN genes for the ZMP project. Semi-automated Curation.

Burgess, S., and Lin, S. (2012) Viral Insertion Mutants Overwrite Data. ZFIN Direct Data Submission.

UniProt-GOA (2011) Gene Ontology annotation based on the manual assignment of UniProtKB Subcellular Location terms in UniProtKB/Swiss-Prot entries. Manually curated data.

UniProt-GOA (2011) Gene Ontology annotation based on the automatic assignment of UniProtKB Subcellular Location terms in UniProtKB/TrEMBL entries. Manually curated data.

Gaudet, P., Livstone, M., Thomas, P., The Reference Genome Project (2010) Annotation inferences using phylogenetic trees. Automated Data Submission.

GOA, HGNC, AgBase and UniProtKB curators (2007) Manual transfer of experimentally-verified manual GO annotation data to orthologs by curator judgment of sequence similarity. ZFIN Direct Data Submission.

ZFIN Staff (2006) Curation of Ensembl Database Links. Automated Data Submission.

Zebrafish Nomenclature Committee (2003) Nomenclature Data Curation (2003-2010). Nomenclature Committee Submission.

ZFIN Staff (2003) Curation of VEGA Database Links. Automated Data Submission.

ZFIN Staff (2003) Curation of orthology data. Manually curated data.

ZFIN Staff (2002) Gene Ontology Annotation Through Association of UniProt Keywords with GO Terms. Automated Data Submission.

ZFIN Staff (2002) Curation of NCBI Gene Data Via Shared RNA Sequence IDs. Automated Data Submission.

ZFIN Staff (2002) Scientific Curation. Manually curated data.

ZFIN Staff (2002) Gene Ontology Annotation Through Association of InterPro Records with GO Terms. Automated Data Submission.