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Mutation, Missense (0):
Recent article
Mutation, Missense
Abstract
We have discovered that other cellular stressors are integrated with glucocorticoid signaling through a new hormone-independent phosphorylation site, Ser134, on the human glucocorticoid receptor (GR). Ser134 phosphorylation is induced by a variety of stress-activating stimuli in a p38 mitogen-activa...
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PMID: 21930780
PDF is available here.
PDF is available here.
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Abstract
Subacute sclerosing panencephalitis (SSPE) is a fatal sequela associated with measles and is caused by persistent infection of the brain with measles virus (MV). The SI strain was isolated in 1976 from a patient with SSPE and shows neurovirulence in animals. Genome nucleotide sequence analyses showed...
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PMID: 21917959
PDF is available here.
PDF is available here.
Abstract
We performed exomic sequencing of seven tumors. Among other changes, we found that the CIC gene (homolog of the Drosophila gene capicua) on chromosome 19q was somatically mutated in six cases and that the FUBP1 gene [encoding far-upstream element (FUSE) binding protein] on chromosome 1p was somatica...
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PMID: 21817013
PDF is available here.
PDF is available here.
Crystal structure of reovirus attachment protein sigma1 in complex with sialylated oligosaccharides.
Abstract
We determined the crystal structures of reovirus attachment protein σ1 in complex with α-2,3-sialyllactose, α-2,6-sialyllactose, and α-2,8-di-siallylactose. All three oligosaccharides terminate in sialic acid, which serves as a receptor for the reovirus serotype studied here. The overall structu...
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PMID: 21829363
PDF is available here.
PDF is available here.
Abstract
Abstract
We present the crystal structures of the SECRET domain of vTNFR CrmD encoded by ectromelia virus and its complex with chemokine CX3CL1. The SECRET domain adopts a β-sandwich fold and utilizes its β-sheet I surface to interact with CX3CL1, representing a new chemokine-binding manner of viral CKBPs....
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PMID: 21829356
PDF is available here.
PDF is available here.
Abstract
We report for the second time on a case of achondroplasia with synostosis of multiple sutures. The most common mutation for achondroplasia (FGFR3 Gly380Arg, resulting in 1138G>A) was identified. Imaging studies disclosed complex craniosynostosis and neurosurgical intervention was carried out, partic...
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PMID: 21739570
PDF is available here.
PDF is available here.
Abstract
We have found that signal transducer and activator of transcription 3 (Stat3) activation up-regulates ERβ expression in PC14PE6/AS2 lung cancer cells in a preliminary Affymetrix oligonucleotide array study, and we sought to confirm the findings. In this study, we show that IL-6 induced ERβ mRNA an...
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PMID: 21546410
PDF is available here.
PDF is available here.
Abstract
We report here that clusters of charged amino acids in the TR hormone-binding domain are required for this enhanced mode of coactivator recruitment and that mutations in these charge clusters, by disrupting TRβ2 coactivator binding, are a molecular basis for pituitary resistance to thyroid hormone,...
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PMID: 21622532
PDF is available here.
PDF is available here.
Abstract
We have examined whether 3Cl-AHPC acts as an agonist and increases SHP activity in the repression of bile acid biosynthetic CYP7A1 and CYP8B1 genes and delineated the underlying mechanisms. Contrary to this expectation, micromolar concentrations of 3Cl-AHPC increased CYP7A1 expression but indirectly...
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PMID: 21566081
PDF is available here.
PDF is available here.
Abstract
We performed genetic analysis of a unique form of SCA (SCA36) that is accompanied by motor neuron involvement. Genome-wide linkage analysis and subsequent fine mapping for three unrelated Japanese families in a cohort of SCA cases, in whom molecular diagnosis had never been performed, mapped the dis...
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PMID: 21683323
PDF is available here.
PDF is available here.
Abstract
We identified two consanguineous pedigrees in which some family members were affected by isolated nail dysplasia that suggested an autosomal-recessive inheritance pattern and was characterized by claw-shaped nails, onychauxis, and onycholysis. Genome-wide SNP array analysis of affected individuals f...
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PMID: 21665003
PDF is available here.
PDF is available here.
Abstract
We present an infant male with coarse facial features, severe supravalvar pulmonic stenosis, automated atrial tachycardia, hypertrophic cardiomyopathy, airway compression, severe neurological involvement, and multiple complications that lead to death during early infancy. The severity of clinical pr...
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PMID: 21567923
PDF is available here.
PDF is available here.
Diagnostic Cytopathology (39)6 2011
Abstract
The diagnostic approach to thyroid nodules generally starts with FNA cytology. However, approximately one-fifth of cytologic evaluations yield indeterminate cytological findings but only 20% of cases with indeterminate thyroid nodule cytology have a cancer diagnosis, emphasizing the...
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PMID: 20607744
PDF is available here.
PDF is available here.
New England Journal of Medicine (364)19 2011
Abstract
We identified a missense mutation in the fetal Gγ-globin gene (HBG2) in a father and daughter with transient neonatal cyanosis and anemia. This new mutation modifies the ligand-binding pocket of fetal hemoglobin by means of two mechanisms. First, the relatively large side chain of methionine decrea...
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PMID: 21561349
PDF is available here.
PDF is available here.
Abstract
We evaluated 234 multidrug-resistant (MDR) M. tuberculosis isolates. The two molecular methods had high levels of specificity (95.8 to 100%). The sensitivities for FLQ resistance detection for both methods were 85.1%. For AG (kanamycin [KM] and amikacin [AM]) and CP (capreomycin CAP]), the sensitivi...
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PMID: 21562102
PDF is available here.
PDF is available here.
Abstract
The susceptibilities of Candida isolates to the echinocandins anidulafungin, caspofungin, and micafungin were determined by using the recently revised CLSI breakpoints and Etest on 238 clinical bloodstream Candida isolates collected between September 2005 and August 2006. The isolates represent appro...
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PMID: 21543574
PDF is available here.
PDF is available here.
Abstract
We used multilocus PCR and electrospray ionization mass spectrometry (PCR/ESI-MS) to determine the genotype and drug resistance profiles for 96 Mycobacterium tuberculosis isolates circulating in regions of high and low tuberculosis (TB) endemicity in China. The dominant principal genetic group (PGG)...
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PMID: 21525214
PDF is available here.
PDF is available here.
Abstract
Respiratory tract colonization by molds in patients with cystic fibrosis (CF) were analyzed, with particular focus on the frequency, genotype, and underlying mechanism of azole resistance among Aspergillus fumigatus isolates. Clinical and demographic data were also analyzed. A total of 3,336 respirat...
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PMID: 21508152
PDF is available here.
PDF is available here.
Abstract
We performed autozygosity mapping in five consanguineous families without RAB3GAP1/2 mutations and identified loss-of-function mutations in RAB18. A c.71T > A (p.Leu24Gln) founder mutation was identified in four Pakistani families, and a homozygous exon 2 deletion (predicted to result in a frameshif...
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PMID: 21473985
PDF is available here.
PDF is available here.
Abstract
We mapped the disease locus from two siblings affected by a severe form of SRP to 2p24, where we identified an in-frame homozygous deletion of exon 5 in WDR35. We subsequently found compound heterozygous missense and nonsense mutations in WDR35 in an independent second case with a similar, severe SR...
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PMID: 21473986
PDF is available here.
PDF is available here.
Abstract
Clavispora lusitaniae is an opportunistic human pathogen responsible for 0.6 to 2% of candidemia. This species is intrinsically susceptible to echinocandins. Nevertheless, in this study, development of echinocandin resistance in C. lusitaniae isolates was observed during caspofungin treatment. This r...
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PMID: 21490186
PDF is available here.
PDF is available here.
Abstract
The BRAF(T1799A) mutation is reported to be associated to aggressive, persistent, and recurrent tumor in papillary thyroid carcinoma (PTC) patients. Association of the BRAF(T1799A) mutation in the primary tumor with the clinicopathological characteristics of PTC patients was analyzed...
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PMID: 21441079
PDF is available here.
PDF is available here.
Abstract
We previously performed a linkage study using families identified through probands meeting criteria for DSM-IV schizoaffective disorder, bipolar type (SABP) and observed a genome-wide significant signal (LOD = 3.54) at chromosome 1q42 close to DISC1. An initial sequencing study of DISC1 using 14...
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PMID: 21445958
PDF is available here.
PDF is available here.
Abstract
We report here that the two most common types--follicular lymphoma and diffuse large B-cell lymphoma--harbour frequent structural alterations inactivating CREBBP and, more rarely, EP300, two highly related histone and non-histone acetyltransferases (HATs) that act as transcriptional co-activators in...
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PMID: 21390126
PDF is available here.
PDF is available here.
New England Journal of Medicine (364)10 2011
Abstract
We identified a dystroglycan missense mutation (Thr192→Met) in a woman with limb-girdle muscular dystrophy and cognitive impairment. A mouse model harboring this mutation recapitulates the immunohistochemical and neuromuscular abnormalities observed in the patient. In vitro and in vivo studies sho...
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PMID: 21388311
PDF is available here.
PDF is available here.
Journal of Hepatology (54)3 2011
Abstract
We examined the molecular basis of iron overload in a family of Vietnamese origin, characterized the molecular and cellular defect, and correlated it with the clinical and pathological phenotype.
We analyzed the ferroportin gene by DNA sequencing. The molecular characterization was p...
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PMID: 21094556
PDF is available here.
PDF is available here.
Abstract
These results suggest that the rotavirus VP6, NSP1 and NSP5 genes of Wa-like rotaviruses are more prone to temporal mutations. Both structural and nonstructural genes of the Western Indian rotavirus strains shared nucleotide and amino acid substitutions with the Bangladeshi strain, Dhaka16-03 (G1P[8...
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PMID: 21256248
PDF is available here.
PDF is available here.
Abstract
We hypothesized that altered expression or function of MAVS, a key molecule downstream of the viral sensors RIG-I and MDA-5, may impair antiviral cell signalling and thereby influence the risk for systemic lupus erythematosus (SLE), the prototype autoimmune disease. We used molecular techniques to s...
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PMID: 21268286
PDF is available here.
PDF is available here.
Circulation (123)8 2011
Abstract
Abstract
We performed clinical, radiographic, and genetic studies in three families with symptomatic arterial calcifications. Single-nucleotide-polymorphism analysis, targeted gene sequencing, quantitative polymerase-chain-reaction assays, Western blotting, enzyme measurements, transduction rescue experiment...
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PMID: 21288095
PDF is available here.
PDF is available here.
Abstract
We employed massive parallel exon sequencing of the 14.3 Mb disease interval on chromosome 14q. We detected a missense mutation (c.1065C>A, p.Asn355Lys) in atlastin-1 (ATL1), a gene that is known to be mutated in early-onset hereditary spastic paraplegia SPG3A and that encodes the large dynamin-rela...
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PMID: 21194679
PDF is available here.
PDF is available here.
Revue Neurologique (167)1 2011
Abstract
We have first made use of different mouse mutants. We show that inactivation of Krox20/Egr2, a master regulatory gene for myelination in Schwann cells, results in transgression of the CNS/PNS boundary by astrocytes and oligodendrocytes and in myelination of nerve root axons by oligodendrocytes. In c...
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PMID: 21193208
PDF is available here.
PDF is available here.
Biochimica et Biophysica Acta (1811)1 2011
Abstract
We demonstrated that the stability of the N-terminal helix bundle structure is modulated by proline substitution at the most hydrophobic region (residues around Y18) in the N-terminal domain. Here we examine the effect of proline substitution at S55 located in another relatively hydrophobic region c...
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PMID: 21040803
PDF is available here.
PDF is available here.
Abstract
We report the crystal structures of the Enterobacter sp. Px6-4 FADase and the enzyme in complex with substrate analogues. Our analyses revealed that FADase possessed a half-opened bottom β-barrel with the catalytic pocket located between the middle of the core β-barrel and the helical bottom. Its...
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PMID: 21283705
PDF is available here.
PDF is available here.
Abstract
From the studies reported here, we show that mutations of the Y- and LL-motifs, which effectively eliminate the amphipathic nature of the lytic peptide 2 (LLP2) domain or disrupt YW and LL motifs in a region spanning residues 795-803 (YWWNLLQYW), just C-terminal of LLP2, can dramatically interfere w...
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PMID: 21569545
PDF is available here.
PDF is available here.
Abstract
One out of the four strains was found to be related to the B2 Egyptian lineage, 2 were related to A1 lineage and the 4th was related to A2 lineage. Comparing data obtained from the current study by other available Egyptian H5N1 sequences remarkably demonstrate that amino acid changes in the immune e...
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PMID: 21651796
PDF is available here.
PDF is available here.
Abstract
The analysis of nucleotide sequences suggested that vRNA length is a variable factor among primary strains, while the phylogenetic analysis suggests selective pressure for change. The G gene showed the greatest sequence variation (2-6.4%), while small hydrophobic protein and matrix genes were comple...
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PMID: 21794174
PDF is available here.
PDF is available here.
Abstract
Most CDA II patients in Israel are of Moroccan Jewish origin and carry a common SEC23B mutation, E109K, the first to be described as a founder mutation causing CDA II. As previously suggested, carrying 2 missense mutations is associated with a relatively nonsevere phenotype....
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PMID: 21252497
PDF is available here.
PDF is available here.
Abstract
Solid tumor-targeted infiltrating cytotoxic T lymphocytes retained by a superantigen fusion protein.
Abstract
We additionally show that labeled EGF-SEA was directly targeted to the tumor tissue after intravenous (i.v.) injection. The findings demonstrate that antibody-like EGF-SEA plays an important role in arresting CTLs in the solid tumor site and has therapeutic potential as a tumor-targeting agent....
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PMID: 21311755
PDF is available here.
PDF is available here.
Abstract
The BRAF(V600E) mutation leading to constitutive signaling of MEK-ERK pathways causes papillary thyroid cancer (PTC). Ras association domain family 1A (RASSF1A), which is an important regulator of MST1 tumor suppressor pathways, is inactivated by hypermethylation of its promoter regi...
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PMID: 21249150
PDF is available here.
PDF is available here.
Abstract
We examined mitochondrial function in patients with genetic defects in insulin receptor (INSR) signaling. We found that phosphocreatine recovery after exercise, a measure of skeletal muscle mitochondrial function in vivo, was significantly slowed in patients with INSR mutations compared with that in...
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PMID: 21555852
PDF is available here.
PDF is available here.
Abstract
We screened 53 individuals from 2 MNG and 3 MNG/SLCT families at McGill University for mutations in DICER1. We investigated blood lymphocytes and MNG and SLCT tissue from family members for loss of the wild-type DICER1 allele (loss of heterozygosity), DICER1 expression, and microRNA (miRNA) dysregul...
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PMID: 21205968
PDF is available here.
PDF is available here.
Journal of Biological Chemistry (285)52 2010
Abstract
We used site-directed mutagenesis, UV spectroscopy, and x-ray crystallography to examine the catalytic role of Arg-104 and Arg-31. Exchange of Arg-104 with Ala, Ser, Thr, or Lys abolished 94.3-99.9% of the specific activity against LTA(4). Steady-state kinetics of R104A and R104S revealed that the K...
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PMID: 20980252
PDF is available here.
PDF is available here.
Journal of Biological Chemistry (285)52 2010
Abstract
We have determined the human male specific lethal 3 (hMSL3) chromo-barrel domain structure by x-ray crystallography to a resolution of 2.5 Å (r = 0.226, R(free) = 0.270). hMSL3 contains a canonical methyllysine binding pocket made up of residues Tyr-31, Phe-56, Trp-59, and Trp-63. A six-residue in...
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PMID: 20943666
PDF is available here.
PDF is available here.
Journal of Biological Chemistry (285)52 2010
Abstract
We present a spatial structure of a complex of the Ca(2+)-regulated photoprotein clytin with its green-fluorescent protein (cgGFP) from the jellyfish Clytia gregaria, and show that it accounts for the bioluminescence properties of this system in vitro. We adopted an indirect approach of combining x-...
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PMID: 20926380
PDF is available here.
PDF is available here.
Journal of Biological Chemistry (285)52 2010
Abstract
We showed that both isoforms of GSK-3 are important for mediating neuronal apoptosis. Nonphosphorylatable GSK-3α/β mutants (S21A/S9A) promoted apoptosis, whereas a peptide encompassing Ser-9 of GSK-3β protected neurons in a phosphorylation-dependent manner; these results indicate a critical role...
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PMID: 20841359
PDF is available here.
PDF is available here.
Pediatric Annals (39)12 2010
Abstract
Abstract
We report the clinical, neuropsychologic, imaging, genetic, and neuropathologic features of a patient with familial Creutzfeldt-Jakob disease, associated with a very rare PRNP mutation at T188R. The patient presented with prominent behavioral changes in addition to the more typical cognitive and mot...
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PMID: 21107135
PDF is available here.
PDF is available here.
Abstract
We now report evidence for the association of psoriasis risk with missense SNPs in the interferon induced with helicase C domain 1 gene (IFIH1). The rare alleles of two independent SNPs were associated with decreased risk of psoriasis--rs35667974 (Ile923Val): odds ratio (OR) for minor allele carrier...
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PMID: 20668468
PDF is available here.
PDF is available here.
Abstract
We screened the IDH1 and IDH2 mutations in a cohort of 456 Chinese patients with various hematological malignancies and disorders. We found three missense (p.R132C, p.R132G, and p.I99M; occurred in five patients) and one silent mutation (c.315C>T; occurred in two patients) in the IDH1 gene and two m...
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PMID: 20946881
PDF is available here.
PDF is available here.
Abstract
We employed Cys-scanning analysis of the xanthine-specific homolog YgfO from Escherichia coli. Using a functional mutant devoid of Cys residues (C-less), each amino acid residue in sequences (259)FLVVGTIYLLSVLEAVGDITATAMVSRRPIQGEEYQSRLKGGVLADGLVSVIASAV(314) and (342)TIAVMLVILGLFP(354) including thes...
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PMID: 20802252
PDF is available here.
PDF is available here.
Journal of Biological Chemistry (285)45 2010
Abstract
We recently demonstrated that the Gla domain-dependent interaction of protein C with endothelial protein C receptor (EPCR) leads to dissociation of the receptor from caveolin-1 and recruitment of PAR-1 to a protective signaling pathway. Thus, the activation of PAR-1 by either thrombin or PAR-1 agoni...
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PMID: 20826780
PDF is available here.
PDF is available here.
Journal of Biological Chemistry (285)45 2010
Abstract
We identified the serine residue regulating SHIP1 activity. After mass spectrometric identification of 17 serine and threonine residues on SHIP1 as being phosphorylated by PKA in vitro, studies with truncation mutants of SHIP1 narrowed the phosphorylation site to the catalytic region between residue...
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PMID: 20810657
PDF is available here.
PDF is available here.
Journal of Biological Chemistry (285)45 2010
Abstract
We demonstrate that an orphan transporter hNPT4 (human sodium phosphate transporter 4; SLC17A3) was a multispecific organic anion efflux transporter expressed in the kidneys and liver. hNPT4 was localized at the apical side of renal tubules and functioned as a voltage-driven urate transporter. Furth...
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PMID: 20810651
PDF is available here.
PDF is available here.
Journal of Biological Chemistry (285)45 2010
Abstract
We have now produced 10 mutants of human galectin-3, with changes in these adjacent sites that have altered carbohydrate-binding fine specificity but that retain the basic β-galactoside binding activity as shown by glycan-array binding and a solution-based fluorescence anisotropy assay. Each mutant...
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PMID: 20807768
PDF is available here.
PDF is available here.
Abstract
We have recently reported a case of cutis laxa caused by a fibulin-5 missense mutation (p.C217R). Skin fibroblasts from this individual showed an abnormal pattern of expression of several genes coding for elastic fiber-related proteins, including lysyl oxidase-like-1 (LOXL1). In this study we intend...
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PMID: 20613779
PDF is available here.
PDF is available here.
Abstract
We find that, in both exogenous and native preparations, gain-of-function missense mutations underlying Familial Hemiplegic Migraine type 1 (FHM-1) occlude CDF of P/Q-type Ca(2+) channels. In FHM-1 mutant mice, the alteration of P/Q-type channel CDF correlates with reduced short-term synaptic facili...
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PMID: 20937883
PDF is available here.
PDF is available here.
Journal of Biological Chemistry (285)43 2010
Abstract
We examined the interaction of kAE1 with the quality control system responsible for the folding of membrane glycoproteins and the retention and degradation of misfolded mutants. Using small molecule inhibitors to disrupt chaperone interactions, two functional, dominant kAE1 mutants (R589H and R901st...
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PMID: 20628050
PDF is available here.
PDF is available here.