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GoPubMed Proteins lists recent and important papers and reviews for proteins. Page last changed on 19 Aug 2016.

Nescient helix loop helix 1

NSCL, HEN1, Nhlh1, NSCL1
The helix-loop-helix (HLH) proteins are a family of putative transcription factors, some of which have been shown to play an important role in growth and development of a wide variety of tissues and species. Four members of this family have been clearly implicated in tumorigenesis via their involvement in chromosomal translocations in lymphoid tumors: MYC (MIM 190080), LYL1 (MIM 151440), E2A (MIM 147141), and SCL (MIM 187040).[supplied by OMIM, Nov 2002] (from NCBI)
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Top mentioned proteins: LIP, CAN, POLYMERASE, Cdc4, ACID
Papers on NSCL
Non-syndromic cleft lip with or without cleft palate in Asian populations: Association analysis on three gene polymorphisms of the folate pathway.
New
Scapoli et al., Bologna, Italy. In Arch Oral Biol, Jan 2016
The aim of the investigation was to replicate previous studies reporting evidence of association between polymorphisms of folate related genes and the occurrence of non-syndromic cleft lip with or without cleft palate (NSCL/P), using three independent samples of different ancestry: from Tibet, Bangladesh and Iran, respectively.
Antagonistic roles between Nibbler and Hen1 modulate piRNA 3' ends in Drosophila.
New
Liu et al., Shanghai, China. In Development, Jan 2016
We show a delicate interplay between Nbr and Hen1, a methyltransferase involved in 2'-O-methylation at 3' terminal nucleotides of piRNAs, connecting two genes with opposing activities in biogenesis of piRNA 3' ends.
Irf6 directly regulates Klf17 in zebrafish periderm and Klf4 in murine oral epithelium, and dominant-negative KLF4 variants are present in patients with cleft lip and palate.
New
Cornell et al., Wuhan, China. In Hum Mol Genet, Jan 2016
Genome-wide association studies have detected common variants associated with this disorder, but a large portion of the genetic risk for NSCL/P is conferred by unidentified rare sequence variants.
[Significant association between nonsyndromic cleft lip with or without cleft palate and IRF6rs2235371 polymorphism in Iranian familiar population].
New
Nouri et al., Eşfahān, Iran. In Mol Biol (mosk), Nov 2015
According to previous studies the IRF6rs2235371 polymorphism is a risk factor for NSCL/P in different populations.
SATB2 gene variants in non-syndromic cleft lip with or without cleft palate in Indian population.
New
Lakkakula et al., Chennai, India. In J Oral Biol Craniofac Res, Sep 2015
OBJECTIVES: Non-syndromic cleft lip with or without cleft palate (NSCL/P) is one of the most common craniofacial birth defects and little is known about its aetiology.
E-CADHERIN CODING GENE (CDH1) AND NONSYNDROMIC CLEFT LIP WITH OR WITHOUT CLEFT PALATE: IS THERE ANY ASSOCIATION?
New
Martinelli et al., Bologna, Italy. In J Biol Regul Homeost Agents, Jul 2015
Its role in nonsyndromic cleft lip with or without cleft palate (NSCL/P) has been extensively investigated and successfully linked to the disease.
Is a polymorphism in 10q25 associated with non-syndromic cleft lip with or without cleft palate? A meta-analysis based on limited evidence.
Review
Guo et al., China. In Br J Oral Maxillofac Surg, 2015
Non-syndromic cleft lip with or without cleft palate (NSCL/P) is one of the most common defects in the human facial structure.
SUMO1 genetic polymorphisms may contribute to the risk of nonsyndromic cleft lip with or without palate: a meta-analysis.
Review
Wang et al., Shenyang, China. In Genet Test Mol Biomarkers, 2014
OBJECTIVE: We conducted the present meta-analysis to investigate whether single-nucleotide polymorphisms (SNPs) in the SUMO1 gene contribute to the risk of nonsyndromic cleft lip with or without palate (NSCL/P).
The diversity, biogenesis, and activities of endogenous silencing small RNAs in Arabidopsis.
Review
Impact
Voinnet et al., Zürich, Switzerland. In Annu Rev Plant Biol, 2013
Dicer-like proteins produce all known classes of plant silencing sRNAs, which are invariably stabilized via 2'-O-methylation mediated by HUA ENHANCER 1 (HEN1), potentially amplified by the action of several RNA-dependent RNA polymerases, and function through a variety of AGO proteins.
RNA decay via 3' uridylation.
Review
Norbury et al., Oxford, United Kingdom. In Biochim Biophys Acta, 2013
In the case of piwi-interacting RNAs, modification of the 3'-terminal nucleotide by the HEN1 methyltransferase blocks uridylation and so stabilises the small RNA.
The microRNA pathway genes AGO1, HEN1 and HYL1 participate in leaf proximal-distal, venation and stomatal patterning in Arabidopsis.
GeneRIF
Ponce et al., Alacant, Spain. In Plant Cell Physiol, 2012
AGO1, HYL1, and HEN1 function in proximal-distal and vascular patterning of leaves.
Temperature-dependent survival of Turnip crinkle virus-infected arabidopsis plants relies on an RNA silencing-based defense that requires dcl2, AGO2, and HEN1.
GeneRIF
Qu et al., Wooster, United States. In J Virol, 2012
AGO2 and HEN1 participate in the DCL2-mediated antiviral defense to ensure the survival of Turnip crinkle virus-infected plants at high temperature.
NeuroD1 is an upstream regulator of NSCL1.
GeneRIF
Kim, United States. In Biochem Biophys Res Commun, 2012
These results demonstrate that NeuroD1 is an upstream regulator of the NSCL1 gene but not the NSCL2 gene in mice.
Deep sequencing from hen1 mutants to identify small RNA 3' modifications.
Review
Meyers et al., Newark, United States. In Cold Spring Harb Symp Quant Biol, 2011
The HEN1 protein methylates the 3' terminus of small RNAs (sRNAs), protecting them from poly-urydilation and degradation.
The helper component-proteinase of the Zucchini yellow mosaic virus inhibits the Hua Enhancer 1 methyltransferase activity in vitro.
GeneRIF
Wassenegger et al., Nablus, Palestinian Territory. In J Gen Virol, 2011
Motif mapping analysis revealed that the amino acids located between positions 139 and 320 of Zucchini yellow mosaic virus HC-Pro were associated with Arabidopsis HEN1 interaction.
Kinetic and functional analysis of the small RNA methyltransferase HEN1: the catalytic domain is essential for preferential modification of duplex RNA.
GeneRIF
Klimasauskas et al., Vilnius, Lithuania. In Rna, 2010
Kinetic parameters with natural RNA substrates show that HEN1 is highly catalytically efficient in the absence of supplementary proteins. The enzyme modifies individual strands in succession leading to complete methylation of an RNA duplex.
Structural insights into mechanisms of the small RNA methyltransferase HEN1.
Impact
GeneRIF
Ma et al., Birmingham, United States. In Nature, 2009
3.1 A crystal structure of full-length HEN1 from Arabidopsis in complex with a 22-nucleotide small RNA duplex and cofactor product S-adenosyl-l-homocysteine
Disruption of an AP-2alpha binding site in an IRF6 enhancer is associated with cleft lip.
Impact
Murray et al., Iowa City, United States. In Nat Genet, 2008
Previously we have shown that nonsyndromic cleft lip with or without cleft palate (NSCL/P) is strongly associated with SNPs in IRF6 (interferon regulatory factor 6). Here, we use multispecies sequence comparisons to identify a common SNP (rs642961, G>A) in a newly identified IRF6 enhancer.
Methylation as a crucial step in plant microRNA biogenesis.
Impact
Chen et al., United States. In Science, 2005
Whereas methylation of rRNAs depends on guide RNAs, the methyltransferase protein HEN1 is sufficient to methylate miRNA/miRNA* duplexes.
Hypogonadism and obesity in mice with a targeted deletion of the Nhlh2 gene.
Impact
Kirsch et al., Bethesda, United States. In Nat Genet, 1997
We have previously described two bHLH transcription factors, Nhlh1 and Nhlh2 (originally named NSCL1 and NSCL2).
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