Evaluation of ATG7 and LC3 Autophagy Genes Expression in Newly Diagnosed AML patients Background and aim: Autophagy, known as cell death type II, is a housekeeping pathway that currently has been worked on in matters of tumorigenesis and leukemogenesis. Therefore, in this study expression levels of ATG7 and LC3 as two key genes are targeted in AML patients. Material and method: This...

Waardenburg syndrome (WS) is a neurocristopathy with an autosomal dominant mode of inheritance, and considerable clinical and genetic heterogeneity. WS type II is the most common type of WS in many populations presenting with sensorineural hearing impairment, heterochromia iridis, hypoplastic blue eye, and pigmentary abnormalities of the hair and skin. To date, mutations of MITF, SOX10, and SNA...

C1q-binding ability may indicate the clinical relevance of de novo donor-specific anti-HLA antibodies (DSA). This study investigated the incidence and risk factors for the appearance of C1q-binding de novo DSA and their long-term impact. Using Luminex Single Antigen Flow Bead assays, 346 pretransplant nonsensitized kidney recipients were screened at 2 and 5 years after transplantation for de no...

We report a rare case of recurrent trisomy 21 caused by an isochromosome 21q and what is very likely to be maternal germ-line cell mosaicism. Over 90% of cases of rob(21;21) reported in the literature are due to an isochromosome 21q, with a risk of recurrence of more than 10%.

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Evaluation of ATG7 and LC3 Autophagy Genes Expression in Newly Diagnosed AML patients Background and aim: Autophagy, known as cell death type II, is a housekeeping pathway that currently has been worked on in matters of tumorigenesis and leukemogenesis. Therefore, in this study expression levels of ATG7 and LC3 as two key genes are targeted in AML patients. Material and method: This...

objective ullrich congenital muscular dystrophy is a rather severe type of congenital muscular dystrophy with early onset features related to motor development. in general it is inherited in autosomal recessive principles, however in the western world mostly seen with de novo dominant mutations in the collagen vi genes. milder form of the condition is the bethlem myopathy. there may be overlap ...

Microfluidics may revolutionize our ability to write synthetic DNA by addressing several fundamental limitations associated with generating novel genetic constructs. Here we report the first de novo synthesis and cell-free cloning of custom DNA libraries in sub-microliter reaction droplets using programmable digital microfluidics. Specifically, we developed Programmable Order Polymerization (PO...

We present AUDENS, a new platform-independent open source tool for automated de novo sequencing of peptides from MS/MS data. We implemented a dynamic programming algorithm and combined it with a flexible preprocessing module which is designed to distinguish between signal and other peaks. By applying a user-defined set of heuristics, AUDENS screens through the spectrum and assigns high relevanc...

We describe a novel approach to comparative assembly that directly integrates anchoring alignments into the contig assembly process, enabling the extension of contig construction through the boundaries of repeat nodes in a compressed de Bruijn graph. Our method exploits anchoring alignments, paired-read constraints and read threading as path selection heuristics while an assembly graph is trans...