Gene mutations
Precision and recall oncology: combining multiple gene mutations for improved identification of drug-sensitive tumours
... particular gene mutation regardless of cancer ...for gene expression profiles [31], it is currently unknown for which drugs combining multiple gene mutations via machine learning can ...
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Impact of gene mutations on treatment response and prognosis of acute myeloid leukemia secondary to myeloproliferative neoplasms
... At MPN phase, as we had previously shown, the molecular profile of patients with MPN who evolved to sAML was different from that of patients with MPN who never transformed, and this profile was very close to the profile ...
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The search for the gene mutations underlying enterotoxigenic Escherichia coli F4ab/ac susceptibility in pigs: A review
... receptor gene (TFRC) as well as on some other positional candidate genes have been performed in order to find the causative mutation for the ETEC-F4ab/ac ...
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MicroRNA profiling in hepatocellular tumors is associated with clinical features and oncogene/tumor suppressor gene mutations.
... Patients and Methods Liver Samples and Clinical Data A whole series of 109 liver samples (55 HCC, 29 HCA, 5 Focal Nodular Hyperplasia, 30 non tumor liver samples) were collected from 93 patients surgically treated in ...
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Aryl hydrocarbon receptor-interacting protein gene mutations in familial isolated pituitary adenomas: analysis in 73 families.
... germline mutations in the AIP gene (Fig. 1). Of these, nine AIP mutations in 10 families have not been reported to ...AIP mutations are detailed in Table 1. There were three novel ...
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Molecular and functional analysis of two new MTTP gene mutations in an atypical case of abetalipoproteinemia.: Functional analysis of two new MTTP mutations
... first mutations, many mutations have been identified in the microsomal triglyceride transfer protein large subunit gene (MTTP) in patients (3- ...of mutations in the MTTP gene in DNA ...
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New surfactant protein C gene mutations associated with diffuse lung disease
... SFTPC mutations in the pathogenesis of diffuse lung disease, two mechanisms have been suggested 2, 10 ...E66K mutations altering intracellular trafficking 7, 10 ...L188Q mutations, aberrant proSP-C ...
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LPIN1 gene mutations: a major cause of severe rhabdomyolysis in early childhood.
... For Peer Review On the other hand, lipin-1 also plays a role of co-activator in PPARα and PGC-1α-mediated transcription, which stimulates the expression of genes related to mitochondrial energy pathways (Donkor, et al., ...
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Identification and characterization of neurofibromatosis type 1 (NF1) gene mutations
... Figure 25 Mutation 2056+ 1 G-?A promotes skipping of exons 11 and 12a Figure 26 The 5' splice site of exon 12a plays a role in exon definition Figure 27 Mechanism of loss of heterozyg[r] ...
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Autosomal recessive cerebellar ataxia caused by mutations in the PEX2 gene.
... PEX2 gene leading to a frameshift 17 codons upstream of the stop ...PEX gene mutations usually result in a severe neurological phenotype (Zellweger spectrum ...
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Les mutations du droit moral
... Ce mémoire comporte donc trois chapitres dont un chapitre préliminaire. L’objectif de ce chapitre préliminaire est d’étudier la nature unitaire du droit moral qui, malgré sa place incontestablement prépondérante, le ...
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Mutations in the mitochondrial split gene $COXI$ are preferentially located in exons: a mapping study of 170 mutants
... Short exonic sequences (complementary to guide sequences in group I introns, intron binding sequences IBS1 and IBS2 in group II introns) are implicated in the splicing of[r] ...
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Germline mutations of the CBL gene define a new genetic syndrome with predisposition to juvenile myelomonocytic leukemia (JMML)
... germline mutations in PTPN11 11 and more rarely, in KRAS 12 , or NRAS 13 ...germline mutations of CBL by reporting 3 further patients among a cohort of 65 JMML ...CBL mutations lead to a ...
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Widespread Mutations in Voltage-Gated Sodium Channel Gene of Cimex lectularius (Hemiptera: Cimicidae) Populations in Paris
... VGSC gene was successfully carried out for 156 specimens, representing the geographical locations ...these mutations, 61 out of 89 ...silent mutations were detected (Figure 2 ...homozygous ...
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en fr Understanding of the pathophysiological mechanisms of periventricular nodular heterotopias associated with mutations in the NEDD4L gene Compréhension des mécanismes physiopathologiques des hétérotopies nodulaires périventriculaires associées à des mutations dans le gène NEDD4L
... 76 Pour les études in cellulo, nous avons utilisé les lignées cellulaires Neuro-2A et les cultures primaires de cellules neuronales. Des expériences de transfection ont été réalisées afin d’étudier la localisation et le ...
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Trichloroethylene exposure and somatic mutations of the VHL gene in patients with Renal Cell Carcinoma
... gen). A negative control was introduced in all PCR exper- iments. PCR products were analyzed on standard 1.5% agarose gels stained with ethidium bromide (0.5µg/mL) before purification with ExoSAP-IT (Amersham Bio- ...
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Le Nord : habitants et mutations
... Quoi qu’il en soit, il faut recon naî tre, à la suite de Cartwright et de Leacock cités en exer gue, que la traite des four ru res dans la pénin sule du Québec- Labrador fait par tie [r] ...
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Les mutations de la francophonie contemporaine
... « La géographie du peuplement francophone de l’Ouest », dans Joseph Yvon Thériault (dir.), Francophonies minoritaires au Canada : l’ état des lieux.. « L’exode vers le Sud – Survol d[r] ...
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Les bibliothèques et les mutations de l’actualité
... - les autres, qualifiés d’« espaces actualité enrichis », rassemblent les collections de presse mais proposent aussi d’autres ressources : ouvrages et usuels destinés à compren[r] ...
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Matthew-Wood syndrome is caused by truncating mutations in the retinol-binding protein receptor gene STRA6.
... patent mutations were identified, despite some intriguing variations (Table ...STRA6 mutations, and the large phenotypic overlap with those who are not mutated, strongly suggests that ...
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