novel variants
Pseudohypoaldosteronism type 1 due to novel variants of SCNN1B gene
... Autosomal recessive pseudohypoaldosteronism type 1 (PHA1) is a rare disorder characterized by sodium wasting, failure to thrive, hyperkalemia, hypovolemia and metabolic acidosis. It is due to mutations in the ...
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Fecal Influenza in Mammals: Selection of Novel Variants
... of novel variants via differ- ent routes during influenza virus infection might influence the emergence of epidemics and perhaps ...of novel variants in the ...of novel variants ...
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MAN1B-CDG: Novel variants with a distinct phenotype and review of literature
... Dissemination of the information about published genetic and genomic variants is important. As requested in the Guidelines for Authors, at this stage, you have to submit new and rarely (less than 5 times) reported ...
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Novel variants of citrus exocortis viroid from southern of Iran
... A segment of about 370 nucleotides was proliferated in eight orange trees from Jahrom due to the reverse transcription polymerase chain reaction with a specific [r] ...
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Novel Variants of the Zwitterionic Claisen Rearrangement and the Total Synthesis of Erythronolide B
... A novel approach to erythronolide B has been realized (twenty four steps from known ester 19, ...a novel Lewis acid promoted enantioselective variant of this key transformation was accomplished using chiral ...
219
PubMedCentral-PMC5063457.pdf
... identified novel variants in the FGF5, ULK4 and HOXA-EVX1 loci, which have not been previously associated with blood pressure ...of variants in KCNK3, a gene implicated in primary hyperaldosteronism, ...
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<p>Emergence of novel methicillin-resistant <em>Staphylococcus aureus</em> strains in a tertiary care facility in Riyadh, Saudi Arabia</p>
... Four novel variants were identi fi ed: CC5-MRSA-[VI+fus+tirS], CC22-MRSA-[V/VT+fus] (PVL+), CC152-MRSA-[V+fus](PVL+) and ...the novel strains carried the Q6GD50 SCCfusC gene while the Panton-Valentine ...
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Role of cytochrome P450 2D6 genetic polymorphism in carvedilol hydroxylation in vitro
... 22 novel nonsynonymous mutated sites among the Chinese population were ...22 novel variants in the microsomes expressed in the insect cell and analyzed the catalytic activities of the allelic ...
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Placenta specific novel splice variants of Rho GDP dissociation inhibitor β are highly expressed in cancerous cells
... the novel variants, and SW948 has been found to express both ...of variants 6b and 6c in the 3 cell lines were found to be similar to that of variant 6a (data ...
8
Kabuki syndrome: novel pathogenic variants, new phenotypes and review of literature
... five novel variants that are causal for the seven KS Chinese patients, and confirmed that the Chin- ese KS presented with typical clinical phenotypes as pre- viously reported in non-Chinese patients, but of ...
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Improving molecular diagnosis of Chinese patients with Charcot-Marie-Tooth by targeted next-generation sequencing and functional analysis
... The novel variants detected by targeted NGS were then further studied in cultured ...pathogenic variants in 11 patients, including 7 previously reported variants and 3 novel ...
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Novel genetic risk variants for pediatric celiac disease
... of novel variants towards improved therapeutic ...identify novel genomic variants of functional significance with the aim of understanding complex disease ...
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RNA Populations in Immunocompromised Patients as Reservoirs for Novel Norovirus Variants
... (GII.4). Novel GII.4 strains emerge every 2 to 4 years and replace older variants as the dominant ...norovirus. Novel variants emerge through a combination of recombination, genetic drift, and ...
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<p>Novel Alternatively Spliced Variants of Smad4 Expressed in TGF-β-Induced EMT Regulating Proliferation and Migration of A549 Cells</p>
... spliced variants were found in the mRNA ...spliced variants of ...Smad4 variants and found that some novel variants of Smad4 involved in tumor ...The variants that termed as ...
11
NRAS germline variant G138R and multiple rare somatic mutations on APC in colorectal cancer patients in Taiwan by next generation sequencing
... of variants was facilitated by using the IT Variant Caller software plugin (Life Technologies), and advanced annotation was performed by uploading an exported VCF file from Variant Caller to Vanno (developed by ...
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Immunoseq: the identification of functionally relevant variants through targeted capture and sequencing of active regulatory regions in human immune cells
... or novel regulatory variant (Additional file 1: Figures ...of variants was observed by comparing equally expressed transcripts with a ...or novel variants than by common ...common ...
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Novel mutations in the 3-box motif of the BACK domain of KLHL7 associated with nonsyndromic autosomal dominant retinitis pigmentosa
... Results: Genetic testing in three patients identified two novel variants within the 3-box motif of the BACK domain: c.472 T > C:p.(Cys158Arg) and c.433A > T:p.(Asn145Tyr). Clinical imaging ...
10
The Challenge of Analyzing the Results of Next-Generation Sequencing in Children
... disease. Novel variants of unknown clinical significance or apparently pathogenic variants in genes not yet known to cause human disease require additional clinical and laboratory research to judge ...
7
Stroke genetics: prospects for personalized medicine
... for variants contributing to polygenic ...that variants in the phosphodiesterase 4D gene PED4D were associated with ischemic stroke in an Icelandic population, [16] but this could not be replicated in other ...
9
Isolation and characterization of novel RECK tumor suppressor gene splice variants
... RECK variants in GBM biology, taking into consideration the involvement of canonical RECK in MMP inhibition, the cells invasive and migration potential were then measured by in vitro transwell assays (Figure 6b ...
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