نتایج جستجو برای: key deletion
تعداد نتایج: 628265 فیلتر نتایج به سال:
In B-cell chronic lymphocytic leukemia (CLL), Rai stage, immunoglobulin gene mutational status, chromosomal abnormalities, CD38 and ZAP-70 expression were used as prognostic markers. In this study, to understand the molecular basis of chromosomal abnormalities leading to tumor progression, 90 CLL patients were grouped into poor prognosis (with 11q deletion and trisomy 12) and good prognosis (wi...
spinal muscular atrophy (sma) is a common autosomal recessive neuromuscular disorder caused by the loss of α-motor neurons in the spinal cord. the survival motor neuron (smn) protein is encoded by 2 genes, smn1 and smn2. the most frequent mutation is the biallelic deletion of exon 7 of the smn1 gene. smn2 cannot compensate for the loss of smn1, due to the exclusion of exon 7. carrier frequency ...
Abstract Deletion of histidine-rich protein genes pfhrp2/3 in Plasmodium falciparum causes infections to go undetected by HRP2-based malaria rapid diagnostic tests. We analyzed P. cases imported Australia (n = 210, collected 2010–2018) for their status. detected gene deletions patients from 12 25 countries. found >10% pfhrp2-deletion levels those Nigeria (13.3%, n 30), Sudan (11.2%, 39), and So...
Next-generation sequencing (NGS) from SARS-CoV-2-positive swabs collected during the last months of 2022 revealed a large deletion spanning ORF7b and ORF8 (426 nt) in six patients infected with BA.5.1 Omicron variant. This extensive genome loss removed part these two genes, maintaining frame first 22 aminoacids three ORF8. Interestingly, deleted region was flanked by small repeats, which were l...
Telomerase and systems controlling their activity have been of great attention. There are controversies regarding the role of the alternative splicing forms of the human telomerase reverse transcriptase (hTERT), the catalytic subunit of telomerase. Therefore, the correlation between telomerase enzyme activity, the abundance of alternatively spliced variants of hTERT and doubling time of a seri...
Introduction: SPATA19 gene is expressed in developmental stages of testis and some organs, but so far its function has only been examined in the testis. In this study, we provided an effective pathway for the generation of these mice using new CRISPR / Cas9 nickase method while generating Spata19 knockout mice for future studies in other organs. Materials and Methods: CRISPR / Cas9 nickase plas...
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