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11 results for uniprot:Q8NFP9 in Computationally mapped citations

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The neurobeachin gene is disrupted by a translocation in a patient with idiopathic autism.

Castermans D., Wilquet V., Parthoens E., Huysmans C., Steyaert J., Swinnen L., Fryns J.P., Van de Ven W., Devriendt K.

J. Med. Genet. 40:352-356(2003) GeneRIF 26960 · Mapped (9)
neurobeachin encoding gene is disrupted in a patient with a de novo translocation t(5;13) (q12.1;q13.2) idiopathic autism and no family history of autism GeneRIF 26960

Identification of new putative susceptibility genes for several psychiatric disorders by association analysis of regulatory and non-synonymous SNPs of 306 genes involved in neurotransmission and neurodevelopment.

Gratacos M., Costas J., de Cid R., Bayes M., Gonzalez J.R., Baca-Garcia E., de Diego Y., Fernandez-Aranda F., Fernandez-Piqueras J., Guitart M. et al.

Am. J. Med. Genet. B Neuropsychiatr. Genet. 150B:808-816(2009) GeneRIF 26960 · Mapped (1,123)
Observational study of gene-disease association. (HuGE Navigator) GeneRIF 26960

Neurobeachin (NBEA) is a target of recurrent interstitial deletions at 13q13 in patients with MGUS and multiple myeloma.

O'Neal J., Gao F., Hassan A., Monahan R., Barrios S., Kilimann M.W., Lee I., Chng W.J., Vij R., Tomasson M.H.

Exp. Hematol. 37:234-244(2009) GeneRIF 26960 · Mapped (9)
The NBEA gene at 13q13 and its expression are frequently disrupted in MM. GeneRIF 26960

Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.

BRIGHT Consortium
Talmud P.J., Drenos F., Shah S., Shah T., Palmen J., Verzilli C., Gaunt T.R., Pallas J., Lovering R., Li K. et al.

Am. J. Hum. Genet. 85:628-642(2009) GeneRIF 26960 · Mapped (10,092)
Observational study of gene-disease association. (HuGE Navigator) GeneRIF 26960

Replication of previous genome-wide association studies of bone mineral density in premenopausal American women.

Ichikawa S., Koller D.L., Padgett L.R., Lai D., Hui S.L., Peacock M., Foroud T., Econs M.J.

J. Bone Miner. Res. 25:1821-1829(2010) GeneRIF 26960 · Mapped (216)
Observational study of gene-disease association. (HuGE Navigator) GeneRIF 26960

Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.

Bailey S.D., Xie C., Do R., Montpetit A., Diaz R., Mohan V., Keavney B., Yusuf S., Gerstein H.C., Engert J.C. et al.

Diabetes Care 33:2250-2253(2010) GeneRIF 26960 · Mapped (10,071)
Observational study of gene-disease association gene-environment interaction and pharmacogenomic / toxicogenomic. (HuGE Navigator) GeneRIF 26960

Neurobeachin, a regulator of synaptic protein targeting, is associated with body fat mass and feeding behavior in mice and body-mass index in humans.

Olszewski P.K., Rozman J., Jacobsson J.A., Rathkolb B., Stromberg S., Hans W., Klockars A., Alsio J., Riserus U., Becker L. et al.

PLoS Genet. 8:e1002568-e1002568(2012) GeneRIF 26960 · Mapped (11)
data obtained in mice and humans suggest that variation of Nbea abundance or activity critically affects body weight presumably by influencing the activity of feeding-related neural circuits GeneRIF 26960

Synapse associated protein 102 (SAP102) binds the C-terminal part of the scaffolding protein neurobeachin.

Lauks J., Klemmer P., Farzana F., Karupothula R., Zalm R., Cooke N.E., Li K.W., Smit A.B., Toonen R., Verhage M.

PLoS ONE 7:e39420-e39420(2012) GeneRIF 26960 · Mapped (19)
Synapse associated protein 102 (SAP102) binds the C-terminal part of the scaffolding protein neurobeachin. GeneRIF 26960

Frequent PVT1 rearrangement and novel chimeric genes PVT1-NBEA and PVT1-WWOX occur in multiple myeloma with 8q24 abnormality.

Nagoshi H., Taki T., Hanamura I., Nitta M., Otsuki T., Nishida K., Okuda K., Sakamoto N., Kobayashi S., Yamamoto-Sugitani M. et al.

Cancer Res. 72:4954-4962(2012) GeneRIF 26960 · Mapped (9)
Data indicate that the PVT1-NBEA and the PVT1-WWOX chimeric genes were associated with the expression of abnormal NBEA and WWOX. GeneRIF 26960

A human protein-protein interaction network: a resource for annotating the proteome.

Stelzl U., Worm U., Lalowski M., Haenig C., Brembeck F.H., Goehler H., Stroedicke M., Zenkner M., Schoenherr A., Koeppen S. et al.

Cell 122:957-968(2005) MINT MINT-1380608 · UniProtKB (1) · Mapped (1,466)
MINT-65610. STRN4 (uniprotkb:Q9NRL3) physically interacts (MI:0915) with NBEA (uniprotkb:Q8NFP9) by two hybrid (MI:0018). From mint MINT MINT-1380608

Systematic identification of SH3 domain-mediated human protein-protein interactions by peptide array target screening.

Wu C., Ma M.H., Brown K.R., Geisler M., Li L., Tzeng E., Jia C.Y., Jurisica I., Li S.S.

Proteomics 7:1775-1785(2007) MINT MINT-1380608 MINT MINT-1380608 · Mapped (252)
MINT-7243342. NBEA (uniprotkb:Q8NFP9) binds (MI:0407) to ABL (uniprotkb:P00519) by peptide array (MI:0081). From mint MINT MINT-1380608 MINT-7246114. NBEA (uniprotkb:Q8NFP9) binds (MI:0407) to FYN (uniprotkb:P06241) by peptide array (MI:0081). From mint MINT MINT-1380608

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