Find your PDFs fast.
Welcome to the Pubget Medical Subject Headings (MESH) browser. Click on a topic or subtopic below to explore related papers. In the gold box is the most recent paper about the current MESH term, and below are 20 related papers.
Point Mutation (0):
Recent article
Point Mutation
Journal of Neurochemistry (119)5 2011
Abstract
We have investigated presenilin (PS)-dependent secretase-mediated processing of nectins in PS1 KO cells and primary hippocampal neurons. The loss of PS1/γ-secretase activity delayed the processing of nectin-1 and caused the accumulation of its full-length and C-terminal fragments. Over-expression o...
|
PMID: 21910732
PDF is available here.
PDF is available here.
| < More recent | Older article > |
Abstract
We therefore developed an efficient bacterial expression system to produce a panel of π-TRTX-Pc1a mutants for probing structure-activity relationships as well as isotopically labeled toxin for determination of its solution structure and dynamics. We demonstrate that the toxin pharmacophore resides...
|
PMID: 21825095
PDF is available here.
PDF is available here.
Abstract
Saccharopine dehydrogenase catalyzes the NAD-dependent oxidative deamination of saccharopine to l-lysine and α-ketoglutarate. Lysine 99 is within hydrogen-bond distance to the α-carboxylate of the lysine substrate and D319 is in the vicinity of the carboxamide side chain of NADH. Both are conserved...
|
PMID: 21819960
PDF is available here.
PDF is available here.
New England Journal of Medicine (365)12 2011
Abstract
New England Journal of Medicine (365)12 2011
Abstract
Abstract
We attempted to confirm that restoration of abnormal platelet function results from platelet count reduction in essential thrombocythemia, by using these two methods. Thirty-nine essential thrombocythemia patients were divided into two groups on the basis of their platelet count. Group A participant...
|
PMID: 21836466
PDF is available here.
PDF is available here.
Abstract
We evaluated the cardiomyopathy gene titin (TTN) as a candidate ARVC gene because of its proximity to an ARVC locus at position 2q32 and the connection of the titin protein to the transitional junction at intercalated disks. Methods and Results- All 312 titin exons known to be expressed in human car...
|
PMID: 21810661
PDF is available here.
PDF is available here.
Abstract
We determined the high-resolution x-ray crystal structure of the GspB binding region (GspB(BR)), both alone and in complex with a disaccharide precursor to sialyl-T antigen. Analysis of the GspB(BR) structure revealed that it is comprised of three independently folded subdomains or modules: 1) an Ig...
|
PMID: 21765814
PDF is available here.
PDF is available here.
Biochimica et Biophysica Acta (1807)11 2011
Abstract
[Fe(4)S(4)]- and [Fe(3)S(4)]-clusters are ubiquitous iron-sulfur motifs in biological systems. The [Fe(3)S(4)] composition is, however, of much lower natural abundance than the more typical [Fe(4)S(4)]-clusters. In the present study formation of [Fe(3)S(4)]-clusters has been examined using chemically...
|
PMID: 21756871
PDF is available here.
PDF is available here.
New England Journal of Medicine (364)26 2011
Abstract
We used a combination of genomic approaches, including next-generation sequencing and mass spectrometry-based genotyping, to identify mutations in samples of bone marrow aspirate from 439 patients with myelodysplastic syndromes. We then examined whether the mutation status for each gene was associat...
|
PMID: 21714648
PDF is available here.
PDF is available here.
Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology / edited by the Gaetano Conte Academy for the study of striated muscle diseases (30)1 2011
Abstract
Mitochondrial Respiratory Chain Disorders (MRCD) are a heterogeneous group of disorders that share the involvement of the cellular bioenergetic machinery due to molecular defects affecting the mitochondrial oxidative phosphorylation system (OXPHOS). Clinically, they usually involve multiple tissues a...
|
PMID: 21842587
PDF is available here.
PDF is available here.
New England Journal of Medicine (364)21 2011
Abstract
Abstract
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...
|
PMID: 21441079
PDF is available here.
PDF is available here.
Abstract
Abstract
Phytopathology (101)6 2011
Abstract
ABSTRACT The genome of most Beet necrotic yellow vein virus (BNYVV) isolates is comprised of four RNAs. The ability of certain isolates to overcome Rz1-mediated resistance in sugar beet grown in the United States and Europe is associated with point mutations in the pathogenicity factor P25. When the...
|
PMID: 21303211
PDF is available here.
PDF is available here.
Abstract
We sequenced the Pv200L coding region from isolates of 26 P. vivax-infected patients in a malaria-endemic area of Colombia. The extent of nucleotide diversity (π) in these isolates (0.061 ± 0.004) was significantly lower (P ≤ 0.001) than that observed in Thai and Brazilian isolates; 0.083 ± 0.0...
|
PMID: 21292880
PDF is available here.
PDF is available here.
Hereditas (Beijing) (33)2 2011
Abstract
We identified and characterized a Chinese family with autosomal dominant Brachydactyly type B1 (BDB1). Linkage analysis revealed that the disease gene of the Chinese BDB1 family was linked to ROR2 locus. Mutational hot spot of ROR2 gene was amplified by polymerase chain reaction (PCR) and sequenced d...
|
PMID: 21377971
PDF is available here.
PDF is available here.
Veterinary Record (168)4 2011
Abstract
Abstract
We have genetically fused RGD-P125A-endostatin to Fc of IgG4 isotype and evaluated its antiangiogenic and antitumor effects in athymic mice. Two genetic constructs were made, RGD-P125A-endostatin-Fc (RE-Fc) and P125A-endostatin-RGD-Fc (ER-Fc). Both constructs were cloned and expressed in mammalian c...
|
PMID: 21225621
PDF is available here.
PDF is available here.
Abstract
We engineered the biotin-binding pocket of avidin with a single point mutation S16C and thus introduced a chemically active thiol group, which could be covalently coupled with thiol-reactive molecules. This approach was applied to the previously reported bivalent dual chain avidin by modifying one b...
|
PMID: 21305032
PDF is available here.
PDF is available here.
Abstract
Pea encodes eukaryotic translation initiation factor eIF4E (eIF4E(S)), which supports the multiplication of Pea seed-borne mosaic virus (PSbMV). In common with hosts for other potyviruses, some pea lines contain a recessive allele (sbm1) encoding a mutant eIF4E (eIF4E(R)) that fails to interact funct...
|
PMID: 21283665
PDF is available here.
PDF is available here.
Abstract
We report a dystrophinopathy patient who has a point mutation in exon 31 of the dystrophin gene. Although the mutation generates a stop codon, a small amount of internally deleted, but functional, dystrophin protein is produced in the patient cells. An analysis of the mRNA reveals that the mutation...
|
PMID: 21556062
PDF is available here.
PDF is available here.
Abstract
We defined the important residues and domains of the Arabidopsis YUC1 FMO, a key enzyme in auxin biosynthesis. We previously showed that simultaneous inactivation of YUC1 and its homologue YUC4 caused severe defects in vascular and floral development. We mutagenized the yuc4 mutant and screened for...
|
PMID: 21205174
PDF is available here.
PDF is available here.
Abstract
The Gag polyproteins play distinct roles during the replication cycle of retroviruses, hijacking many cellular machineries to fulfill them. In the case of the prototype foamy virus (PFV), Gag structural proteins undergo transient nuclear trafficking after their synthesis, returning back to the cytopl...
|
PMID: 21255441
PDF is available here.
PDF is available here.
Abstract
We tested the hypothesis, whether reduced functional receptor availability in mutant mice resulted in increased cellular and molecular inflammatory response during acute inflammation and/or in an impairment of its resolution.
To address this hypothesis we examined the effects of a ca...
|
PMID: 21933390
PDF is available here.
PDF is available here.
Abstract
We tested the hypothesis, whether reduced functional receptor availability in mutant mice resulted in increased cellular and molecular inflammatory response during acute inflammation and/or in an impairment of its resolution.
To address this hypothesis we examined the effects of a ca...
|
PMID: 21933390
PDF is available here.
PDF is available here.
Abstract
We tested the hypothesis, whether reduced functional receptor availability in mutant mice resulted in increased cellular and molecular inflammatory response during acute inflammation and/or in an impairment of its resolution.
To address this hypothesis we examined the effects of a ca...
|
PMID: 21933390
PDF is available here.
PDF is available here.
Abstract
We describe the case of a 22-month-old boy with LCH associated with X-linked lymphoproliferative disease (XLP). Sequence analysis of SH2D1A for mutations that cause T-cell dysfunction revealed a CT substitution at nucleotide 462. This is the first case that hints at an association between XLP and LC...
|
PMID: 21094704
PDF is available here.
PDF is available here.
Cytometry Part B (80)1 2011
Abstract
We previously generated an antihuman SAP monoclonal antibody (KST-3) for a flow cytometric assay and described the activation of T cells to be necessary for the flow cytometric assessment of the SAP expression using an FITC-conjugated secondary antibody.
Between 2005 and 2008, we rec...
|
PMID: 20632414
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...
|
PMID: 21555852
PDF is available here.
PDF is available here.
médecine/sciences (27)6-7 2011
Abstract
Abstract
We report the result of three cases referred to our lab that had a combination of β-thalassemia and hemoglobin D (Hb D) traits. These individuals had no symptoms of profound anemia and hematological indices were similar to that of a β-thalassemia heterozygote. In all three cases, the Hb D level wa...
|
PMID: 21194265
PDF is available here.
PDF is available here.
Abstract
We describe a case of a dog that was referred for neurological defects and had a prolonged activated partial thromboplastin time (aPTT) and normal prothrombin time (PT) with no hemostatic defects. By using human PK-deficient plasma, the dog was diagnosed to have PK deficiency. The nucleotide sequenc...
|
PMID: 20736516
PDF is available here.
PDF is available here.
Abstract
We discuss possible mechanisms of deregulation and the significance of pericentriolar material 1 (PCM)1-JAK2 fusion/t(8;9)(p21-23;p23-24) in hematolymphoid neoplasms. Such cases show morphological (myeloproliferaton, eosinophilia, myelofibrosis) and clinical (striking male predominance, aggressive c...
|
PMID: 21091042
PDF is available here.
PDF is available here.
Journal of Biological Chemistry (285)52 2010
Abstract
We have examined the biophysical properties of a recombinant murine amelogenin (rM180) and two point mutations identified from human DNA sequences in two cases of AI (T21I and P41T). At pH 5.8 and 25 °C, wild type (WT) rM180 and mutant P41T existed as monomers, and mutant T21I formed lower order ol...
|
PMID: 20929860
PDF is available here.
PDF is available here.
Vnitrni lekarstvi (56)12 2010
Abstract
Bulletin du cancer (97)12 2010
Abstract
BRAF mutations, present in 5 to 10% of colorectal cancers, have a proved oncogenic effect which is linked to their implication in the RAS/MAPK intracellular signalling pathway and they occurred at early stage of colorectal carcinogenesis. Many studies have therefore assessed their clinical significa...
|
PMID: 21220223
PDF is available here.
PDF is available here.
EMBO Journal (29)23 2010
Abstract
We show that an N-terminal region of Spt6 (Spt6N) is responsible for interaction with Iws1. The crystallographic structures of Encephalitozoon cuniculi Iws1 and the Iws1/Spt6N complex reveal two conserved binding subdomains in Iws1. The first subdomain (one HEAT repeat; HEAT subdomain) is a putative...
|
PMID: 21057455
PDF is available here.
PDF is available here.
Abstract
We describe the first Caucasian cases of MELAS syndrome associated with the A3260G mutation. Furthermore, this mutation was associated with exercise-induced rhabdomyolysis, hearing loss, seizures, cardiomyopathy, and autism in the large kindred. We conclude that the A3260G mtDNA mutation is associat...
|
PMID: 20965148
PDF is available here.
PDF is available here.
Abstract
The RET proto-oncogene (REarranged during Transfection; RET) plays an important role in the causation of many thyroid tumours. Germline RET proto-oncogene missense mutations have been clearly linked to medullary thyroid carcinoma (MTC) and the inherited cancer syndrome multiple endocrine neoplasia ty...
|
PMID: 21542403
PDF is available here.
PDF is available here.
Bulletin du cancer (97)11 2010
Abstract
The high heterogeneity of clinical, histological, biological and genetic features in breast cancer is due in part to the extreme molecular complexity of these tumors. This review article presents the major technological advances of the past ten years, in particular the development of microarray appr...
|
PMID: 21051317
PDF is available here.
PDF is available here.
Hepatology (52)5 2010
Abstract
EMBO Journal (29)21 2010
Abstract
We provide evidence that CtsR activity during heat stress is mediated by intrinsic heat sensing through a glycine-rich loop, probably in all Gram-positive species. Moreover, a function for the recently identified arginine kinase McsB is confirmed, however, not for initial inactivation and dissociati...
|
PMID: 20852588
PDF is available here.
PDF is available here.
Analyst (Cambridge UK) (135)11 2010
Abstract
A simple and sensitive approach for the recognition of single base mismatches in duplex DNA was developed. The single base mismatched double-strand (ds) DNA and the completely complementary dsDNA can quench the fluorescence of methylene blue to the different values, so the point mutation dsDNA can b...
|
PMID: 20830326
PDF is available here.
PDF is available here.
Journal of Biological Chemistry (285)43 2010
Abstract
We show here that zinc mesoporphyrin, a validated fluorescent heme analog, is transported by ABCG2. We also show that the ABCG2 large extracellular loop ECL3 constitutes a porphyrin-binding domain, which strongly interacts with heme, hemin, PPIX, ZnPPIX, CoPPIX, and much less efficiently with pheoph...
|
PMID: 20705604
PDF is available here.
PDF is available here.
Abstract
We constructed an empirical fitness landscape for a catalytic RNA by combining next-generation sequencing, computational analysis, and "serial depletion," an in vitro selection protocol. By determining the reaction rate constant for every point mutant of a catalytic RNA, we demonstrated that abundan...
|
PMID: 20947767
PDF is available here.
PDF is available here.
Abstract
We test this prediction using photoactive yellow protein (PYP), a 125-residue prototype of the PER-ARNT-SIM (PAS) domain superfamily of signaling proteins. PAS domains are defined by a small number of conserved residues of unknown function. We report high-throughput biophysical measurements on a com...
|
PMID: 20889915
PDF is available here.
PDF is available here.
Biochimica et Biophysica Acta (1802)11 2010
Abstract
In order to identify biomarkers useful for the diagnosis of genetic white matter disorders we compared the metabolic profile of patients with leukodystrophies with a hypomyelinating or a non-hypomyelinating MRI pattern.
|
PMID: 20637281
PDF is available here.
PDF is available here.
Abstract
We evaluated this method of mutation screening for the two major breast and ovarian cancer susceptibility genes BRCA1 and BRCA2. Screening of these two genes is time-consuming and must include exploration of large rearrangements that represent 5% to 15% of the alterations observed in these genes. To...
|
PMID: 20858050
PDF is available here.
PDF is available here.
Genetics in Medicine (12)10 2010
Abstract
We developed a pilot program for the Persian Jewish community of greater Los Angeles. We screened for mutations responsible for four relatively frequent autosomal recessive conditions in Persian Jews in which effective interventions are available for each: Pseudocholinesterase deficiency (butyryl ch...
|
PMID: 20733503
PDF is available here.
PDF is available here.
Pediatric Emergency Care (26)10 2010
Abstract
We report the index case of a previously undescribed hemoglobinopathy that presented to the pediatric emergency department. The evaluation and management of the cyanotic/hypoxic child and review of hemoglobinopathies are presented here....
|
PMID: 20930596
PDF is available here.
PDF is available here.
Abstract
Current Genetics (56)5 2010
Abstract
We suggest that decreased stability of Tra1-L3733A accounts for the phenotypes since intragenic suppressors of tra1-L3733A restored Tra1 levels, and reducing wild-type Tra1 led to comparable growth defects. Also supporting a key role for the FATC domain in the structure/function of Tra1, addition of...
|
PMID: 20635087
PDF is available here.
PDF is available here.
Clinical calcium (20)10 2010
Abstract
Wnt signal has been known to play various roles in many organ from the beginning of embryogensis. Its role in bone metabolism has also been investigated and established. Lipoprotein receptor-related protein 5 (LRP5) is one of the important molecules in wnt signal pathway whose point mutations are re...
|
PMID: 20890035
PDF is available here.
PDF is available here.
Abstract
We describe a Korean family with severe FXII deficiency from F12 mutations. The proband was a 46-year-old woman and was shown to have a markedly prolonged activated partial thromboplastin time at 126.7 s (reference range, 29-42 s) on routine health checkup. She had no history of bleeding tendency. C...
|
PMID: 20729721
PDF is available here.
PDF is available here.
Abstract
A 2-year-old asymptomatic boy and his relatives were investigated for a suspected fibrinogen mutation after coagulation tests revealed a decreased functional fibrinogen level (family A). Eight-year-old and 1-year-old asymptomatic brothers were investigated for a suspected fibrinogen mutation after c...
|
PMID: 20829681
PDF is available here.
PDF is available here.
Biochemical Journal (431)2 2010
Abstract
These results reiterate the unique features of this group of kinases and present an opportunity for designing more specific antiviral compounds....
|
PMID: 20704565
PDF is available here.
PDF is available here.
Human Molecular Genetics (19)18 2010
Abstract
We have used Mip1, the yeast pol g, as a model enzyme to characterize six pathogenic pol g mutations. Four mutations clustered in a highly conserved 3'-5' exonuclease module are localized in the DNA-binding channel in close vicinity to the polymerase domain. They result in an increased frequency of...
|
PMID: 20601675
PDF is available here.
PDF is available here.