Chinese leukemia genotype-phenotype archive
WebBackground: Nephronophthisis-related ciliopathies (NPHP-RC) account for the majority of cases of monogenetically caused end-stage renal disease (ESRD) in children. Exploring the correlation between the phenotype and genotype of NPHP-RC is helpful for early diagnosis and management. We investigated the phenotype and genotype spectra of NPHP-RC … WebTuberous sclerosis complex (TSC) is a genetic condition characterized by the occurrence of hamartomatous wounds stemming from the dysfunction of the mammalian target of rapamycin (mTOR) pathway. We investigated the clinical phenotypes and genetic variants in 243 unrelated probands and their families in China. Exome sequencing, targeted …
Chinese leukemia genotype-phenotype archive
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WebDec 6, 2014 · We focused on a series of chronic lymphocytic leukemia (CLL) B cells that were previously characterized by bulk whole-exome (WES) and RNA-sequencing (RNA-Seq). We developed 2 classes of assays. First, we generated multiplexed nested quantitative RT-PCR assays of 96 genes with known involvement in CLL biology. WebOct 30, 2024 · Histograms showing phospho-p38 peaks shifted left in CC genotype (black) comparing TT genotype (gray). Discussion For leukemia patients, hematologic toxicity is the most common side effect of chemotherapy as the hematopoietic cells are among the tissues most vulnerable to therapy-related damage, in part due to their active cell cycle …
WebFeb 4, 2024 · Osteogenesis imperfecta (OI) is a rare hereditary skeletal dysplasia, … WebThe datasets have been deposited in the Chinese Leukemia Genotype-Phenotype …
WebNov 30, 2014 · Abstract. Purpose: Not all natural killer (NK) cells are equally cytotoxic against leukemia because of differences in receptor gene content and surface expression. We correlated NK cell genotype and phenotype at diagnosis of childhood acute lymphoblastic leukemia (ALL) with minimal residual disease (MRD) after induction … WebMay 28, 2024 · This study aimed to analyze the genotypes and phenotypes of GNAO1 variants in a Chinese cohort. Seven male and four female patients with GNAO1 variants were enrolled, including siblings of …
WebNov 15, 2013 · Abstract. CLL exhibits great variability in genetic alterations and clinical …
WebGenotype-phenotype correlation analysis showed that patients with epilepsy were more likely to carry E815K mutation. In summary, ATP1A3 is the major pathogenic gene of AHC in Chinese patients; mutations have distinctive molecular features that discriminate them from neutral variants and are correlated with phenotypes. small light bulb projectsWebMar 26, 2024 · Here, we examined the role and the genotype-phenotype correlation of MYO15A variants in a cohort of Chinese NSHL cases. Methods: Eighty-one cases with evidenced MYO15A variants from the 2263 Chinese NSHL cases, who underwent next-generation sequencing (NGS), were enrolled in the study. small light bulb storageWebNov 4, 2024 · Furthermore, it remains unclear whether genotype-phenotype correlations … small light bulbs for window candlesWebApr 1, 2024 · In recent years, gene mutations are found to be potential markers for more … small light bulbs boardWebDec 13, 2016 · Chronic lymphocytic leukemia (CLL) is extremely rare in Asian countries … high-rise developmentWebNov 30, 2013 · The Database of Genotypes and Phenotypes (dbGap, http://www.ncbi.nlm.nih.gov/gap) is a National Institutes of Health-sponsored repository charged to archive, curate and distribute information produced by studies investigating the interaction of genotype and phenotype. high-rise dad pantsWeblymphoblastic leukemia (T-ALL), particularly in an adult group, we addressed the … small light bulbs types