[PDF] Top 20 Exome sequencing identifies a novel mutation of the GDI1 gene in a Chinese
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Exome sequencing identifies a novel mutation of the GDI1 gene in a Chinese
... regulator in the mem- brane-traffic process of vesicles by retrieving Rab (a protein family of Ras-like GTPases) from target mem- branes after a vesicular transport event (Pereira-Leal and ... See full document
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WHOLE-EXOME SEQUENCING IDENTIFIES RXRG AND TH GERMLINE VARIANTS IN FAMILIAL ISOLATED PROLACTINOMA
... adenoma in animal models. Thus, in most FIPA cases the exact genetic defect that lead to disease development remains ...Therefore, the aim of this work is to determine the ... See full document
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A novel de novo COL1A1 mutation in a Thai boy with osteogenesis
... Mutations in COL1A1 and COL1A2 are responsible for at least 90% of the cases, which are transmitted in an autosomal dominant manner or are de novo ...Because the proband was the ... See full document
5
Whole exome sequencing identifies new causative mutations in Tunisian families with non-syndromic deafness.
... expressed in the inner ear sensory cells [18]. Mice carrying a mutation of the orthologous gene (COMT2) suffer from vestibular dysfunction, profound deafness and progressive ... See full document
6
Exome sequencing and linkage analysis identified tenascin-C (TNC) as a novel causative gene in nonsyndromic hearing loss.
... five-generation Chinese family (family F013) with autosomal dominant hereditary hearing loss mapped on chromosome ...Mb) in 2004, where there are 398 predicted and reported ...after gene mapped, we ... See full document
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Exome Sequencing Identifies a Missense Variant in EFEMP1 Co-Segregating in a Family with Autosomal Dominant Primary Open-Angle Glaucoma.
... cause of progressive vision loss as a result of retinal ganglion cell ...whole-exome sequencing to identify the genetic defect underlying an autosomal dominant form of ... See full document
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Exome analysis identified a novel mutation in the RBP4 gene in a consanguineous pedigree with retinal dystrophy and developmental abnormalities.
... passed the quality control were mapped to the human reference genome build hg19 using Bowtie ...homozygous in the two affected siblings and heterozygous or absent in the ... See full document
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Whole exome analysis identifies frequent CNGA1 mutations in Japanese population with autosomal recessive retinitis pigmentosa.
... association of CNGA1 with arRP [11,26,31,32,34,35]. Dryja et al. estimated the preva- lence of CNGA1 mutations in arRP patients to be between ...4 of 173 patients) [31]. The ... See full document
9
Targeted exome sequencing identified novel USH2A mutations in Usher syndrome families.
... cause of deaf-blindness in autosomal recessive ...heterogeneities in USH make molecular diagnosis much ...next-generation sequencing to determine the genetic defects in patients ... See full document
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Exome Sequencing Identifies a Novel LMNA Splice-Site Mutation and Multigenic Heterozygosity of Potential Modifiers in a Family with Sick Sinus Syndrome, Dilated Cardiomyopathy, and Sudden Cardiac Death.
... ences: the RNA analysis of LMNA c.357-1G>T was performed in heart tissue compared to our studies in ...Differences in NMD mRNA decay efficiency have been found between various ... See full document
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Next-generation sequencing identifies transportin 3 as the causative gene for LGMD1F.
... hybridization of shotgun fragment (average size 141 bp) libraries to Agilent SureSelect Human All Exon 50 Mb (Agilent Technologies, Santa Clara, CA, USA) in-solution capture ...Using the SOLiD system ... See full document
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Whole-exome sequencing identifies a novel genotype-phenotype correlation in the entactin domain of the known deafness gene TECTA.
... audiograms of four affected individuals showed bilateral, moderate, symmetrical, and stable sensorineural hearing loss, most significantly that involving high frequencies ...1). The mean 6 standard ... See full document
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A novel familial mutation in the PCSK1 gene that alters the oxyanion hole residue of proprotein convertase 1/3 and impairs its enzymatic activity.
... endocrinopathies. Exome sequencing and homozygosity mapping identified five regions, comprising 337 protein-coding genes that were shared by three affected ...siblings. Exome sequencing ... See full document
7
A novel homozygous mutation in the solute carrier family 12 member 3 gene in a Chinese family with Gitelman syndrome
... Loss of function of mutated solute carrier family 12 member 3 (SLC12A3) gene is the most frequent etiology for Gitelman syndrome (GS), which is mainly manifested by hypokalemia, hypomagnesemia ... See full document
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Identification of a Novel NLRP12 Nonsense Mutation (Trp408X) in the Extremely Rare Disease FCAS by Exome Sequencing.
... implemented in Trim Galore software, and low quality reads were filtered for quality ...Only the reads in which the Phred-scaled sequencing quality was greater than 30 and the ... See full document
12
The application of optical measurements for the determination of accuracy of gear wheels casts manufactured in the RT/RP process
... discusses the possibilities of using optical measurements for defining the geometric accuracy of gear wheels casts manufactured in the rapid prototyping ...process. The ... See full document
4
Hereditary cancer risk assessment: insights and perspectives for the Next-Generation Sequencing era
... use of genome-wide sequencing to identify the genetic cause of a hereditary cancer syndrome used Sanger sequencing and a filter-based approach to compare the coding sequence from ... See full document
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Statistical guidance for experimental design and data analysis of mutation detection in rare monogenic mendelian diseases by exome sequencing.
... Admittedly, in this work we adopted a simple statistical framework. Real RMMD exome data analyses often involve in applications of a number of ...First, the current framework ... See full document
11
Synthesis Of Arts In Architecture Of Uzbekistan Of The Ancient Period
... emphasize the central part among the other composition, the architect 'in the middle third of the main wall had arranged an extensive ...46p]. The building itself ... See full document
8
Prostate Cancer: A State of The Heart
... speciically the patient underwent PLND and 14 nodes were removed, 3 of which were ...point the patient also sufered a myocardial infarction and was treated with a percutaneous coronary intervention ... See full document
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