Response to trametinib in a nonsmall cell lung cancer patient with osimertinib resistance harboring GNAS R201C and R201H mutations: a case report.

Osimertinib, an orally administered third-generation epidermal growth factor receptor (EGFR) tyrosine kinase inhibitor, is widely approved for the first-line and second-line treatment of advanced non-small-cell lung cancer (NSCLC) with EGFR mutations. However, the rapid development of osimertinib resistance renders the unsustainable treatment benefit. Patients with EGFR -mutated NSCLC who develop osimertinib resistance, especially those acquiring relatively rare and 'off-target' resistance mutations, still lack effective therapeutic options for postosimertinib therapy.

Rapid discrimination between tuberculosis and sarcoidosis using next-generation sequencing.

Objectives: Tuberculosis (TB), an infectious disease caused by Mycobacterium tuberculosis (MTB), has similar clinical, radiological, and histopathological characteristics to sarcoidosis (SA). Accurately distinguishing SA from TB remains a clinical challenge.

Methods: A total of 44 TB patients and 47 SA patients who were clinically diagnosed using chest radiography, pathological examination, routine smear microscopy, and microbial culture were enrolled in this study.

Targeted gene panel sequencing prenatally detects two novel mutations of DYNC2H1 in a fetus with increased biparietal diameter and polyhydramnios.

Background: Genetic skeletal disorders (GSDs) are clinically and genetically heterogeneous with more than 350 genes accounting for the diversity of disease phenotypes. Prenatal diagnosis of these disorders has been challenging because of the limited but variable prenatal phenotypes, highlighting the need of a novel genetic approach. Short-rib polydactyly syndrome (SRPS) Type III is an autosomal recessive GSD characterized by extreme narrowness of the thorax, severely shortened tubular bones, polydactyly and multiple malformations.

Mutational spectrum of phenylketonuria in Jiangsu province.

Unlabelled: Phenylketonuria (PKU) is caused by variants in the phenylalanine hydroxylase (PAH) gene. We systematically investigated all 13 exons of the PAH gene and their flanking introns in 31 unrelated patients and their parents using next-generation sequencing (NGS). A total of 33 different variants were identified in 58 of 62 mutant PAH alleles.

Inorganic phosphate stimulates fibronectin expression in renal fibroblasts.

Elevated plasma phosphate levels are signifcantly associated with progression of chronic kidney disease (CKD). Interstitial fibrosis is an important factor in the progression of CKD. In this study we investigate the role of inorganic phosphate in stimulating fibronectin (FN) synthesis in a kidney fibroblast cell line (NRK-49F).

Hypertonicity-induced mitochondrial membrane permeability in renal medullary interstitial cells: protective role of osmolytes.

Background: Hyperosmotic stress causes cell death through activation of apoptotic pathways if the protective osmolyte response is impaired. In this study we attempt to elucidate the molecular mechanisms of hypertonicity-induced apoptosis and the effect of major organic osmolytes upon those.

Methods: Hypertonicity-induced changes in Bcl2-family protein abundance and the presence of cytochrome c and apoptosis inducing factor (AIF) in the cytoplasm, were measured using western blot and immunofluorescence labeling.

mAtNOS1 induces apoptosis of human mammary adenocarcinoma cells.

mAtNOS1 is a novel gene recently reported in mammalian genome with functions that are not fully understood. The present study shows that in human mammary adenocarcinoma MCF-7 cells, mAtNOS1 expression increases mitochondrial nitric oxide and calcium. Our study further shows that overexpression of mAtNOS1 induces apoptosis in MCF-7 cells by increasing mitochondrial protein tyrosine nitration and cytochrome c release.

mAtNOS1 regulates mitochondrial functions and apoptosis of human neuroblastoma cells.

mAtNOS1 is a novel gene recently reported in mammalian cells with functions that are not fully understood. The present study generated human neuroblastoma SHSY cells over- and underexpressing mAtNOS1 and shows that mAtNOS1 is involved in regulating mitochondrial nitric oxide, mitochondrial transmembrane potential, protein tyrosine nitration, cytochrome c release, and apoptosis of those cells.

The development of biotechnology education in China*.

From the middle of the 20th century, Chinese scientists have been actively involved in biotechnology. However, biotechnology education in China is a relatively recent phenomenon. This subject has not been addressed at the undergraduate level in a serious way until recently.

A novel pathogenesis-related protein (SsPR10) from Solanum surattense with ribonucleolytic and antimicrobial activity is stress- and pathogen-inducible.

A cDNA clone (designated as SsPR10, GenBank Accession Number AY660753 ) encoding a PR10 protein from yellow-fruit nightshade (Solanum surattense) was isolated and characterized. SsPR10 encoded a 160-amino-acid polypeptide with a predicted molecular mass of 17.58 kDa and pI of 5.

Expression and purification of Arisaema heterophyllum agglutinin in Escherichia coli.

Recombinant Arisaema heterophyllum agglutinin (AHA) was expressed in Escherichia coli as N-terminal His-tagged fusions. After induction with isopropylthio-beta-D-galactoside, the recombinant AHA was purified by metal-affinity chromatography. The purified AHA protein was incorporated into artificial diet at 0.

Genomic cloning and characterization of a novel lectin gene from Zantedeschia aethiopica.

A new lectin gene was isolated by using genomic walker technology and revealed to encode a mannose-binding lectin. Analysis of a 2233 bp segment revealed a gene including a 1169 bp 5' flanking region, a 417 bp open reading frame (ORF) and a 649 bp 3' flanking region. There are two putative TATA boxes and eight possible CAAT boxes lie in the 5' flanking region.

Molecular cloning and characterization of a novel mannose-binding lectin cDNA from Zantedeschia aethiopica.

Using RNA extracted from Zantedeschia aethiopica young leaves and primers designed according to the conservative regions of Araceae lectins, the full-length cDNA of Z. aethiopica agglutinin (ZAA) was cloned by rapid amplification of cDNA ends (RACE). The full-length cDNA of zaa was 871 bp and contained a 417 bp open reading frame (ORF) encoding a lectin precursor of 138 amino acids.

A novel ABA-dependent dehydrin ERD10 gene from Brassica napus.

A new dehydrin ERD10 gene was cloned and characterized from Brassica napus (designated as Bndhn ERD10). The full-length cDNA of Bndhn ERD10 was 1114 bp and contained an open reading frame of 816 bp encoding a protein of 271 amino acid residues. The deduced Bndhn ERD10 protein contained an 8-serine residue domain and two conserved repeats of the characterized lysine-rich-K-segment (KIKEKLPG).

cDNA cloning and characterization of a mannose-binding lectin from Zingiber officinale Roscoe (ginger) rhizomes.

Using RNA extracted from Zingiber officinale rhizomes and primers designed according to the conservative regions of monocot mannose-binding lectins, the full-length cDNA of Z. officinale agglutinin (ZOA) was cloned by rapid amplification of cDNA ends (RACE). The full-length cDNA of zoa was 746 bp and contained a 510 bp open reading frame (ORF) encoding a lectin precursor of 169 amino acids with a signal peptide.

Cloning and expression of a novel cDNA encoding a mannose-binding lectin from Dendrobium officinale.

Using RNA extracted from Dendrobium officinale young leaves and primers designed according to the conservative regions of orchidaceae lectins, the full-length cDNA of Dendrobium officinale agglutinin2 (DOA2) was cloned by rapid amplification of cDNA ends (RACE). The full-length cDNA of doa2 was 777 bp and contained a 513 bp open reading frame (ORF) encoding a lectin precursor of 170 amino acids. Through comparative analysis of doa2 gene and its deduced amino acid sequence with those of other orchidaceae species and Amaryllidaceae species, it was found that DOA2 had many common characters of mannose-binding lectin superfamily including three mannose-binding sites.

Molecular cloning and characterization of a CBF gene from Capsella bursa-pastoris.

A new CBF gene was cloned from Capsella bursa-pastoris(shepherd's purse) by rapid amplification of cDNA ends (RACE). The full-length cDNA of C. bursa-pastoris CBF gene (designated as Cbcbf) was 1034 bp long and contained a 657 bp open reading frame (ORF) encoding a putative DRE/CRT (LTRE)-binding protein of 219 amino acids.