Variant analysis and PGT-M of OTC gene in a Chinese family with ornithine carbamoyltransferase deficiency.

Background: Ornithine carbamoyltransferase deficiency (OTCD) is a kind of X-linked metabolic disease caused by a deficiency in ornithine transcarbamylase leading to urea cycle disorders. The main reason is that the OTC gene variants lead to the loss or decrease of OTC enzyme function, which hinders the ammonia conversion to urea, resulting in hyperammonemia and severe neurological dysfunction. Here, we studied one Chinese family of three generations who consecutively gave birth to two babies with OTCD.

Optimization of seeding density of OP9 cells to improve hematopoietic differentiation efficiency.

Background: OP9 mouse stromal cell line has been widely used to induce differentiation of human embryonic stem cells (hESCs) into hematopoietic stem/progenitor cells (HSPCs). However, the whole co-culture procedure usually needs 14-18 days, including preparing OP9 cells at least 4 days. Therefore, the inefficient differentiation system is not appreciated.

Efficient extraction based on a polydimethylsiloxane/bimetallic ZnCo-MOF carbonization sponge coupled with GC-MS for the rapid analysis of volatile compounds in cumin.

A novel porous polydimethylsiloxane/bimetallic ZnCo-MOF carbonization (PDMS/ZnCo-MOF@C) sponge was successfully fabricated, followed by its utilization in GC-MS for the high efficiency extraction and determination of volatile compounds in cumin. The PDMS/ZnCo-MOF@C sponge exhibits outstanding properties with a considerable adsorption capacity, high surface area, and large pore volume and has shown potential as an ideal adsorbent for the separation and preconcentration of trace volatile compounds. The effect of different parameters on the extraction efficiency were investigated.

Determination of volatile components in cumin by microwave-assisted PDMS/GO/DES headspace solid phase extraction combined with GC-MS.

A novel approach based on polydimethylsiloxane/graphene oxide/deep eutectic solvent (PDMS/GO/DES) sponge headspace solid phase extraction followed by GC-MS was successfully developed to determine the volatile components in cumin. The PDMS/GO/DES exhibits outstanding properties with high adsorption capacity and good chemical stability, and has shown its potentiality as an ideal adsorbent for the extraction of volatile compounds. The influence factors of the extraction process were investigated.

Solid-phase extraction based on PDMS/ionic liquid sponge followed by gas chromatography-mass spectrometry for rapid and sensitive determination of volatile components in lavender.

Introduction: Due to the complexity and the low concentrations of volatile components in aromatic plants, sample pretreatment is an important step in the whole analytical procedure.

Objective: This study aimed to propose a novel, sensitive and fast approach to determine the volatile components in lavender.

Methods: The 1-butyl-3-(propyltrimethoxysilane)imidazolium chloride ([BPtmsim]Cl) ionic liquid was introduced onto the surface of polydimethylsiloxane (PDMS) to prepare a novel PDMS/[BPtmsim]Cl sponge with large surface area, good sorption performance, and reusability.

Polydimethylsiloxane/graphene oxide/β-cyclodextrin sponge as a solid-phase extraction sorbent coupled with gas chromatography-mass spectrometry for rapid adsorption and sensitive determination of lavender essential oil.

An adsorbent polydimethylsiloxane/graphene oxide/β-cyclodextrin sponge, which possessed the merits of high surface area, chemical stability, environment friendly, and excellent extraction capacity, was successfully fabricated. Based on the advantages, a novel microwave-assisted headspace solid-phase extraction method for lavender essential oil using polydimethylsiloxane/graphene oxide/β-cyclodextrin sponge as adsorbents was developed in this study. Various experimental parameters were studied.

The CSRP2BP histone acetyltransferase drives smooth muscle gene expression.

The expression of nearly all smooth muscle genes are controlled by serum response factor binding sites in their promoter regions. However, SRF alone is not sufficient for regulating smooth muscle cell development. It associates with other cardiovascular specific cofactors to regulate smooth muscle gene expression.