The biogenesis of platelets from megakaryocyte ...

Additionally, the Q43P mutation is thought to occur quite frequently in the normal population (10%) and impart a protective effect against cardiovascular disease in men (47). Figure 2. Localization of microtubules within proplatelets.

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FILA KIDSQ4-3P--

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(PDF) Rare homozygous status of P43 β1-tubulin ...

The association of the β1-tubulin Q43P polymorphism with intracerebral hemorrhage in men. By Vicente Vicente. Genotype-phenotype relationship for six common polymorphisms in genes affecting platelet function from 286 healthy subjects and 160 patients with mucocutaneous bleeding of unknown cause.

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January 9, 2022 - YouTube

About Press Copyright Contact us Creators Advertise Developers Terms Privacy Policy & Safety How YouTube works Test new features Press Copyright Contact us Creators ...

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Słuchawki, cz.1 - Odc.19 [Reduktor Szumu] - YouTube

Nasi widzowie często sugerowali, aby zrobić odcinek o słuchawkach. Ponieważ temat ten nie był jeszcze poruszany w Reduktorze, postanowiliśmy się nim zająć.Je...

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Severe Gastrointestinal Bleeding and Thrombocytopenia in a ...

Freson K, De Vos R, Wittevrongel C, Thys C, Defoor J, Vanhees L, Vermylen J, Peerlinck K, Van Geet C 2005 The TUBB1 Q43P functional polymorphism reduces the risk of cardiovascular disease in men ...

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The TUBB1 Q43P functional polymorphism reduces the …

The Q43P β1-tubulin variant is present in 10.6% of the general population but also in 24.2% of 33 unrelated patients with congenital macrothrombocytopenia. It is unlikely that this functional variant would be the only genetic factor contributing to the clinical problems in these patients, since in all these families the thrombocytopenia seems ...

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Platelets of mice heterozygous for neurobeachin, a ...

Freson K, De Vos R, Wittevrongel C, Thys C, Defoor J, Vanhees L, Vermylen J, Peerlinck K, Van Geet C: The TUBB1 Q43P functional polymorphism reduces the risk of cardiovascular disease in men by modulating platelet function and structure. Blood. 2005, 106: 2356-2362. 10.1182/blood-23.

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OMIM Entry - # 613112 - MACROTHROMBOCYTOPENIA, …

Freson et al. (2005) identified a heterozygous gln43-to-pro (Q43P) SNP in the TUBB1 gene in 8 (24.2%) of 33 unrelated individuals with macrothrombocytopenia. However, since inheritance in these 8 families was more consistent with autosomal recessive inheritance and no other TUBB1 variants were identified, it was unclear how much this SNP contributed to the phenotype.

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Epigenomic Consequences of Coding and Noncoding Driver ...

Chromatin alterations are integral to the pathogenic process of cancer, as demonstrated by recent discoveries of frequent mutations in chromatin-modifier genes and aberrant DNA methylation states in different cancer types. Progress is being made on elucidating how chromatin alterations, and how proteins catalyzing these alterations, mechanistically contribute …

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(PDF) The association of the 1-tubulin Q43P …

The TUBB1 Q43P polymorphism, by causing a lower reactivity in platelets carrying the variant form of b1-tubulin, protects against thrombotic disorders but increases the risk of ICH in men.

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Postmortem genetic analysis of sudden unexplained death ...

Six potential variants were not previously reported by the Exome Aggregation Consortium (W733R and Y4939F in RYR2, D2757H in DSP, R203K in PRKAG2, and Q43P and D18H in TBX5). The prevalence of detected gene variants in the present SUDS and the ExAC EAS (East Asian subpopulation) was compared.

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Apolipoprotein E gene polymorphism and the risk of ...

A case–control study suggested that the beta1-tubulin Q43P polymorphism could be associated with ICH in men from southern Spain . A population-based prospective nested case–control study found that estrogen receptor alpha gene polymorphisms were associated with first-ever ICH, particularly in combination with hypertension .

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(PDF) The association of the 1-tubulin Q43P polymorphism ...

The TUBB1 Q43P polymorphism, by causing a lower reactivity in platelets carrying the variant form of b1-tubulin, protects against thrombotic disorders but increases the risk of ICH in men.

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The association of the β1-tubulin Q43P polymorphism …

The TUBB1 Q43P polymorphism, by causing a lower reactivity in platelets carrying the variant form of b1-tubulin, protects against thrombotic disorders but increases the risk of intracerebral hemorrhage in men. the platelet Q43P beta1-tubulin substitution is frequent in the healthy population and may protect men against arterial thrombosis

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Oncogenic exon 2 mutations in Mediator subunit MED12 ...

Site-directed mutagenesis of MED12 to generate L36R, Q43P, and G44S mutants was performed using a MED12 fragment spanning amino acids in 1–330 in pGEX6P-1. The baculovirus transfer vector pFastBac1-MED12-HA carrying a C-terminal hemagglutinin (HA) epitope tag appended to full-length MED12 has been described previously . A CDK19 …

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Genetic variation in human drug-related genes | Genome ...

While Q43P (AF SAS = 14%) has recently been associated with decreased progression-free survival in urothelial cell carcinoma when treated with cabazitaxel, less is known about the effects of the other two variants. Mapping the affected residues onto the 3D structure of docetaxel bound to tubulin (PDB ID ...

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OMIM Entry - * 612901 - TUBULIN, BETA-1; TUBB1

Freson et al. (2005) found the heterozygous Q43P change in 10.6% of 272 healthy control individuals. Control individuals with the Q43P change had normal platelet counts, but larger and rounder, more spherical platelets compared to those without the change.

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IJMS | Free Full-Text | Tubulin in Platelets: When the ...

Based on an association study, we previously reported that β1-tubulin p.Q43P polymorphism is a weak risk factor for intracranial bleeding, but does not protect against acute coronary syndrome . At least two other common genetic variants (MAF > 1%) have been reported: TUBB1 c.821C>T (p.Thr274Met) and TUBB1 c.920G>A (p.Arg307His).

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Double Shaft Shredder, Two-Shaft Shredder - Heavy Duty ...

WANSHIDA Q43P-600A Small Scrap Metal Light scrap waste steel sheet Shredder for sale. Scrap Metal Shredder on sales - Quality Scrap Metal Q43P-600A Metal Scrap Shredders Specifications: It can be applied… soild waste management

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The association of the beta1-tubulin Q43P polymorphism ...

INTERPRETATION AND CONCLUSIONS: This is the first evidence linking the TUBB1 Q43P platelet polymorphism with hemorrhagic stroke in humans. The TUBB1 Q43P polymorphism, by causing a lower reactivity in platelets carrying the variant form of b1-tubulin, protects against thrombotic disorders but increases the risk of ICH in men. PMID: 17488662

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CHESS; DECISIVE WIN FOR A YOUNG GRAND MASTER - The …

Short, at 19 the world's youngest grandmaster, tallied six victories and two draws to win the $5,000 first prize. Alburt's consolation money was …

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The Genetic Architecture of Intracerebral Hemorrhage | Stroke

Abstract. Background and Purpose— Intracerebral hemorrhage (ICH), the acute manifestation of a common progressive cerebrovascular disease of the elderly, is the most fatal and least treatable form of stroke. There is a desperate need for ICH-specific therapeutics and effective primary prevention strategies, a need that is certain to grow with ...

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MED12, the Mediator Complex Subunit 12 Gene, Is Mutated at ...

Q43P was found three times. Another hot spot was detected in codon 36. Eleven lesions (5%) all displayed a L36R mutation. Twenty-five tumors (11%) with an insertion-deletion type mutation were also observed (Table 1 and Fig. 2). All of these are predicted to result in an in-frame transcript.

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China Metal Shredder (Q43P) for Metal Recycle - China ...

China Metal Shredder (Q43P) for Metal Recycle, Find details about China Shredder, Metal Shredder from Metal Shredder (Q43P) for Metal Recycle - …

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The TUBB1 Q43P functional polymorphism reduces the risk of ...

The prevalence of the Q43P beta1-tubulin variant was also 2 times higher (odds ratio, [OR] = 2.1;95% confidence interval [CI], 1.22-3.59) among control subjects than among patients with cardiovascular disease (10.4% versus 5.2%, P < .001). By analyzing this protective factor in men and women separately, this association was only found in men.

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Regulatory Polymorphisms in β-Tubulin IIa Are Associated ...

Purpose: Peripheral neuropathy is the dose-limiting toxicity of paclitaxel, a chemotherapeutic drug widely used to treat several solid tumors such as breast, lung, and ovary. The cytotoxic effect of paclitaxel is mediated through β-tubulin binding in the cellular microtubules. In this study, we investigated the association between paclitaxel neurotoxicity risk and regulatory genetic …

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Structure and noncanonical Cdk8 activation mechanism ...

Notably, however, our structural analysis reveals instead that UL-linked mutations in human MED12, including hotspot mutations G44D, Q43P, and L36R (corresponding to yeast Med12 residues G53, K52, and L46, respectively), as well as in-frame insertions/deletions (variously spanning human residues 26 to 55; corresponding to yeast residues 37 to ...

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About products and suppliers: The plastic recycling industry is a massive enterprise on the global market. Advance technological metal washing machine on Alibaba offer high performing experiences. They have strong motor rotations to enhance the …

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The biogenesis of platelets from megakaryocyte proplatelets

substitution of a highly conserved glutamine with a proline (Q43P) (47). In heterozygous individuals carrying the Q43P mutation, Figure 1 Anatomy of a proplatelet. Differential interference contrast image of proplatelets on a mouse megakaryocyte in vitro. Some of the hall-

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Identification of biological correlates associated with ...

The TUBB1 Q43P functional polymorphism reduces the risk of cardiovascular disease in men by modulating platelet function and structure. Blood. 2005;106(7):2356–62. CAS Article Google Scholar 26. Caruso P, Dunmore BJ, Schlosser K, Schoors S, Dos Santos C, Perez-Iratxeta C, et al. Identification of MicroRNA-124 as a major regulator of enhanced ...

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(PDF) The TUBB1 Q43P functional polymorphism reduces the ...

Mutational analysis of ␤ 1-tubulin. (A) Sequencing of ␤ 1-tubulin cDNA from a control subject and a patient with thrombocytopenia (Q43P). A double base-pair substitution, AG to CC, was found ...

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Lessons in platelet production from inherited ...

Moreover, the p.Q43P TUBB1 variant in humans is associated with enlarged platelets carrying subtle morphological abnormalities (Freson et al, 2005). Finally, a genome-wide association study in up to 66 867 individuals of European ancestry identified the TUBB1 locus as a major determinant of the mean platelet volume (Gieger et al, 2011

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hydraulic baler|metal baler| hydraulic shear|plastic film ...

The majar products: the hydraulic baler, metal baler, hydraulic shear, the plastic film press, waste paper press, the cotton press, metal flatting mill, chipping machine etc.All of products can be customized in accordance with the requirements.

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A Collector's Business | SWG Wiki | Fandom

The waypoint that Q43P sends you to (-1455 -1307) is the last known coordinates of the droid. When you arrive there, no droid is to be found. There are plenty of Blistmoks and Lava Fleas, but no droid. You can find the droid a few meters away at /way mustafar -1537 -1317 droid . Collecting a memory []

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JCI - The biogenesis of platelets from megakaryocyte ...

In heterozygous individuals carrying the Q43P mutation, β 1-tubulin expression was reduced in platelets, which were enlarged and spherocytic because of defects in the microtubule marginal band. Additionally, the Q43P mutation is thought to occur quite frequently in the normal population (∼10%) and impart a protective effect against ...

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TUBB1 - Wikipedia

545486 Ensembl ENSG00000101162 ENSMUSG00000016255 UniProt Q9H4B7 A2AQ07 RefSeq (mRNA) NM_030773 NM_001080971 RefSeq (protein) NP_110400 NP_001074440 Location (UCSC) Chr 20: 59.02 – 59.03 Mb n/a PubMed search Wikidata View/Edit Human View/Edit Mouse TUBB1 is a gene that codes for the protein Tubulin beta-1 chain in humans. …

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