GoPubMed Proteins lists recent and important papers and reviews for
proteins. Page last changed on 14 Mar 2013.
Notch 2
Notch2, n-2
This gene encodes a member of the Notch family. Members of this Type 1 transmembrane protein family share structural characteristics including an extracellular domain consisting of multiple epidermal growth factor-like (EGF) repeats, and an intracellular domain consisting of multiple, different domain types. Notch family members play a role in a variety of developmental processes by controlling cell fate decisions. The Notch signaling network is an evolutionarily conserved intercellular signaling pathway which regulates interactions between physically adjacent cells. In Drosophilia, notch interaction with its cell-bound ligands (delta, serrate) establishes an intercellular signaling pathway that plays a key role in development. Homologues of the notch-ligands have also been identified in human, but precise interactions between these ligands and the human notch homologues remain to be determined. This protein is cleaved in the trans-Golgi network, and presented on the cell surface as a heterodimer. This protein functions as a receptor for membrane bound ligands, and may play a role in vascular, renal and hepatic development. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2011] (from
NCBI)
Papers using
Notch2
antibodies
The role of the vascular endothelial growth factor-Delta-like 4 ligand/Notch4-ephrin B2 cascade in tumor vessel remodeling and endothelial cell functions.
Supplier
In PLoS ONE, 2005
... Polyclonal anti-Notch2, 3, anti-IL-1α antibodies were obtained from Abcam Inc (Cambridge, MA) ...
Papers on
Notch2
Down-regulated expression of Notch signaling molecules in human endometrial cancer.
New
Vilnius, Lithuania. In Med Oncol, 31 Mar 2013
In this study, we investigated the expression of Notch receptors (NOTCH1, NOTCH2, NOTCH3 and NOTCH4), ligands (JAG1, JAG2 and DLL1) and target gene HES1.
Clinical consequences in truncating mutations in exon 34 of NOTCH2: Report of six patients with Hajdu-Cheney syndrome and a patient with serpentine fibula polycystic kidney syndrome.
New
Matsumoto, Japan. In Am J Med Genet A, 31 Mar 2013
Since it was shown that heterozygous truncating mutations in NOTCH2 are responsible for both HCS and SFPKS, 37 patients with HCS and four patients with SFPKS are reported.
Pkcδ Is Required for Jagged-1 Induction of hMSC Osteogenic Differentiation.
New
Philadelphia, United States. In Stem Cells, 13 Mar 2013
Overexpression of the notch-2 intracellular domain (NICD) is sufficient to mimic the effect of Jag1 on hMSC osteoblastogenesis, while blocking Notch signaling with a gamma-secretase inhibitor or with dominant negative mastermind inhibits Jag1 induced hMSC osteoblastogenesis.
Mutations in NOTCH2 in patients with Hajdu-Cheney syndrome.
New
Boston, United States. In Osteoporos Int, 07 Mar 2013
Recently, heterozygous mutations in NOTCH2 were identified as the cause of HCS.
The miRNA Profile of Human Pancreatic Islets and Beta-Cells and Relationship to Type 2 Diabetes Pathogenesis.
New
Oxford, United Kingdom. In Plos One, Dec 2012
At six loci with genome-wide evidence for T2D association (AP3S2, KCNK16, NOTCH2, SCL30A8, VPS26A, and WFS1) predicted mRNA target sites for islet-expressed miRNAs overlapped potentially causal variants.
Notch signaling in human development and disease.
Review
New
Philadelphia, United States. In Semin Cell Dev Biol, Jun 2012
Notch associated disorders include the autosomal dominant, multi-system, Alagille syndrome caused by mutations in both a ligand (Jagged1 (JAG1)) and receptor (NOTCH2) and autosomal recessive spondylocostal dysostosis, caused by mutations in a ligand (Delta-like-3 (DLL3)), as well as several other members of the Notch signaling pathway.
Alagille syndrome: pathogenesis, diagnosis and management.
Review
New
Exeter, United Kingdom. In Eur J Hum Genet, Mar 2012
Alagille syndrome (ALGS), also known as arteriohepatic dysplasia, is a multisystem disorder due to defects in components of the Notch signalling pathway, most commonly due to mutation in JAG1 (ALGS type 1), but in a small proportion of cases mutation in NOTCH2 (ALGS type 2).
Notch regulation of bone development and remodeling and related skeletal disorders.
Review
New
Hartford, United States. In Calcif Tissue Int, Feb 2012
Activating mutations in NOTCH2 cause Hajdu-Cheney syndrome, which is characterized by skeletal defects and fractures, and JAG1 polymorphisms, are associated with variations in bone mineral density.
CD19-independent instruction of murine marginal zone B-cell development by constitutive Notch2 signaling.
GeneRIF
München, Germany. In Blood, 2012
Data from transgenic/knockout mice indicate that Notch2 signaling acts as a binary switch that drives, depending on the cellular background, either T-cell development or the generation of marginal zone B-cells.
Notch2 receptor signaling controls functional differentiation of dendritic cells in the spleen and intestine.
Impact
GeneRIF
New York City, United States. In Immunity, 2011
Notch2 is a common differentiation signal for T cell-priming CD11b(+) DC subsets in the spleen and intestine.
Loss-of-function mutations in Notch receptors in cutaneous and lung squamous cell carcinoma.
GeneRIF
Berkeley, United States. In Proc Natl Acad Sci U S A, 2011
study describes a spectrum of inactivating somatic mutations of Notch receptors in lung and skin cancers, indicating that Notch loss of function plays a prominent role in multiple variants of squamous cell carcinomas
Notch signaling is necessary for adult, but not fetal, development of RORγt(+) innate lymphoid cells.
Impact
GeneRIF
Paris, France. In Nat Immunol, 2011
Whereas fetal RORgammat(+) cells matured in the fetal liver environment, adult bone marrow-derived RORgammat(+) ILCs matured outside the bone marrow, in a Notch2-dependent manner
Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis.
Impact
GeneRIF
Nantes, France. In Nat Genet, 2011
sequenced the exomes of six unrelated individuals with Hajdu-Cheney syndrome and identified heterozygous nonsense and frameshift mutations in NOTCH2 in five of them
Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss.
Impact
GeneRIF
London, United Kingdom. In Nat Genet, 2011
Hajdu-Cheney syndrome mutations are predicted to lead to the premature truncation of NOTCH2 with either disruption or loss of the C-terminal proline-glutamate-serine-threonine-rich proteolytic recognition sequence.
Notch lineages and activity in intestinal stem cells determined by a new set of knock-in mice.
GeneRIF
Paris, France. In Plos One, 2010
Notch1 and Notch2 are specifically expressed in crypt stem cells.
Control and interference in task switching--a review.
Review
Würzburg, Germany. In Psychol Bull, 2010
We consider preparation processes in two-stage models, consider preparation as an all-or-none process, address the question of whether preparation is switch-specific, reflect on preparation as interaction of cue encoding and memory retrieval, and discuss the impact of verbal mediation on preparation.
The role of inhibition in task switching: a review.
Review
Aachen, Germany. In Psychon Bull Rev, 2010
n-2 repetition costs refer to the performance impairment in sequences of the ABA type relative to CBA, which can be interpreted in terms of persisting inhibition of previously abandoned tasks.
A multistage genome-wide association study in breast cancer identifies two new risk alleles at 1p11.2 and 14q24.1 (RAD51L1).
Impact
Bethesda, United States. In Nat Genet, 2009
(rs11249433; P = 6.74 x 10(-10) adjusted genotype test, 2 degrees of freedom) resides in a large linkage disequilibrium block neighboring NOTCH2 and FCGR1B; this signal was stronger for estrogen-receptor-positive tumors.
Clinical risk factors, DNA variants, and the development of type 2 diabetes.
Impact
Malmö, Sweden. In N Engl J Med, 2008
Variants in 11 genes (TCF7L2, PPARG, FTO, KCNJ11, NOTCH2, WFS1, CDKAL1, IGF2BP2, SLC30A8, JAZF1, and HHEX) were significantly associated with the risk of type 2 diabetes independently of clinical risk factors; variants in 8 of these genes were associated with impaired beta-cell function.
Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes.
Impact
Oxford, United Kingdom. In Nat Genet, 2008
We detected at least six previously unknown loci with robust evidence for association, including the JAZF1 (P = 5.0 x 10(-14)), CDC123-CAMK1D (P = 1.2 x 10(-10)), TSPAN8-LGR5 (P = 1.1 x 10(-9)), THADA (P = 1.1 x 10(-9)), ADAMTS9 (P = 1.2 x 10(-8)) and NOTCH2 (P = 4.1 x 10(-8)) gene regions.
