Abstract Al‐Raqad syndrome (ARS) is a rare autosomal recessive congenital disorder, associated mainly with developmental delay, and intellectual disability. This syndrome is caused by mutations in DCPS, encoding scavenger mRNA decapping enzyme, which plays a role in the 3‐prime‐end mRNA decay pathway. Whole‐exome sequencing was performed on an offspring of a consanguineous family presenting with developmental delay, intellectual disability, growth retardation, mild craniofacial abnormalities, cerebral...
Fri Aug 07, 2020 20:35
Abstract Autosomal‐dominant familial hypercholesterolemia (FH) is characterized by increased plasma concentrations of low‐density lipoprotein cholesterol (LDL‐C) and a substantial risk to develop cardiovascular disease. Causative mutations in three major genes are known: the LDL receptor gene (LDLR ), the apolipoprotein B gene (APOB ) and the proprotein convertase subtilisin/kexin 9 gene (PCSK9 ). We clinically characterized 336 patients suspected to have FH and screened them for disease...
Sat Aug 08, 2020 12:00
To generate the full-length transcriptome of Xinjiang green and purple turnips, Brassica rapa var. Rapa, using single-molecule real-time (SMRT) sequencing. The samples of two varieties of Brassica rapa var. Rapa at five developmental stages were collected and combined to perform SMRT sequencing. Meanwhile, next generation sequencing was performed to correct SMRT sequencing data. A series of analyses were performed to investigate the transcript structure. Finally, the obtained transcripts were mapped...
Fri Aug 07, 2020 23:12
A Rosaceae family-level candidate gene approach was used to identify genes associated with sugar content in blackberry (Rubus subgenus Rubus). Three regions conserved among apple (Malus x domestica), peach (Prunus persica), and alpine strawberry (Fragaria vesca) were identified that contained previously detected sweetness-related quantitative trait loci (QTLs) in at least two of the crops. Sugar related genes from these conserved regions and 789 sugar-associated apple genes were used to identify...
Fri Aug 07, 2020 23:12
Abstract Psychiatric disorders such as Schizophrenia (SCZ) and Bipolar Disorder (BD) represent an evolutionary paradox, as they exhibit strong negative effects on fitness, such as decreased fecundity and early mortality, yet they persist at a worldwide prevalence of approximately 1%. Molecular mechanisms affecting lifespan, which may be widely common among complex diseases with fitness effects, can be studied by the integrated analysis of data from genome-wide association studies...
Sun Aug 09, 2020 03:00
Δεν υπάρχουν σχόλια:
Δημοσίευση σχολίου