Poor outcomes in carriers of the RNF213 variant (p.Arg4810Lys) with pulmonary arterial hypertension.

Background: A variant of c.14429G>A (p.Arg4810Lys, rs112735431) in the ring finger protein 213 gene (RNF213; NM_001256071.

De novo mutations in the BMPR2 gene in patients with heritable pulmonary arterial hypertension.

A substantial proportion of patients with pulmonary arterial hypertension (PAH) have mutations in the Bone Morphogenetic Protein Receptor type-2 (BMPR2) gene. PAH due to BMPR2 mutations is inherited as an autosomal dominant trait with several unique features, including a wide variety of mutations, reduced penetrance, a skewed gender ratio, variable expressivity and genetic anticipation. To address the genetic background of these unique features of BMPR2 mutation, we conducted a systematic analysis of 15 PAH families with BMPR2 mutation.

Overexpression of an antisense RNA, ArrS, increases the acid resistance of Escherichia coli.

The antisense RNA ArrS is complementary to a sequence in the 5' untranslated region of the gadE T3 mRNA, the largest transcript of gadE, which encodes a transcriptional activator of the glutamate-dependent acid resistance system in Escherichia coli. Expression of arrS is strongly induced during the stationary growth phase, particularly under acidic conditions, and transcription is dependent on σ(S) and GadE. The aim of the present study was to clarify the role of ArrS in controlling gadE expression by overexpressing arrS in E.

Alu-mediated nonallelic homologous and nonhomologous recombination in the BMPR2 gene in heritable pulmonary arterial hypertension.

Purpose: The purpose of this study was to undertake thorough genetic analysis of the bone morphogenetic protein type 2 receptor (BMPR2) gene in patients with pulmonary arterial hypertension.

Methods: We conducted a systematic analysis for larger gene rearrangements together with conventional mutation analysis in 152 pulmonary arterial hypertension patients including 43 patients diagnosed as having idiopathic pulmonary arterial hypertension and 10 diagnosed as having familial pulmonary arterial hypertension.

Results: Analysis of the BMPR2 gene revealed each of the four kinds of nonsense and frameshift mutations, one missense mutation, one splice-site mutation, and two types of exonic deletion.

Transcription of an antisense RNA of a gadE mRNA is regulated by GadE, the central activator of the acid resistance system in Escherichia coli.

6H57, a 69-nucleotide-long small RNA, was isolated in shotgun cloning using an RNA sample derived from early stationary-phase cells. The 6H57 gene is located in a 798-bp intergenic region between two acid resistance-related genes, hdeD and gadE, and is encoded on the strand opposite these flanking genes. In this study, we carried out stringent Northern blotting to determine target mRNAs of 6H57.

8-hydroxydeoxyguanosine generated in the earthworm Eisenia fetida grown in metal-containing soil.

Heavy metal pollution of soil causes biological problems, such as mutagenicity to living organisms, including human beings. However, few methods have been developed to assess metal mutagenicity in soil. To avoid metal mutagenicity, an adequate bio-monitoring method is required.

Evolution of the cytoplasmic and mitochondrial phosphagen kinases unique to annelid groups.

Creatine kinase (CK) is a member of a group of phosphoryl transfer enzymes called phosphagen kinases that play a key role in cellular energy transactions in animals. Three CK isoform gene families are known-cytoplasmic CK (CK), flagellar CK (fCK), and mitochondrial CK (MiCK). Each of the isoforms has a unique gene structure (intron/exon organization).

DMRT-1 expression during NEC8 human embryonic carcinoma cell differentiation.

To elucidate the relationship between dsx and mab-3 related transcription factor 1 (Dmrt-1) and differentiation, alteration in mRNA levels during differentiation of NEC8 human embryonic carcinoma cells was investigated. After stimulation with 50 nM phorbol 12-myristate 13-acetate (PMA), the cells differentiated into cells with mesenchymal characteristics and upregulated Dmrt-1 mRNA, possibly through the protein kinase C/mitogen-activated protein kinase/activated protein-1 signaling pathway. Conversely, knockdown of Dmrt-1 by small interfering RNA resulted in cell morphology that was different from that after PMA treatment.

Valosine-containing proteins (VCP) in an annelid: identification of a novel spermatogenesis related factor.

Two cDNAs similar to mammalian valosine-containing proteins (VCPs) were isolated from the common lumbricid earthworm Eisenia fetida (Savigny, 1826). The primary sequences, referred to as eVCP-1 and eVCP-2, display a similarity of 74%. Despite of the variable C-termini, both eVCPs have a conserved intron/exon organization spanning 14 kb, which is also conserved to their mammalian counterparts.

Keratinocyte growth inhibition by high-dose epidermal growth factor is mediated by transforming growth factor beta autoinduction: a negative feedback mechanism for keratinocyte growth.

The epidermal growth factor receptor and its ligands initiate a major signaling pathway that regulates keratinocyte growth in an autocrine manner. It is well known that high doses of epidermal growth factor receptor ligands inhibit keratinocyte growth. Recently, signal transducers and activators of transcription 1-dependent p21Waf1/Cip1 induction were reported to be involved in high-dose epidermal growth factor-dependent cell growth arrest in the A431 squamous cell carcinoma cell line; however, transfection of dominant-negative signal transducers and activators of transcription 1 adenovirus vector did not block epidermal growth factor-induced growth inhibition in normal human keratinocytes.