Investigation of a hemophilia family with one female hemophilia A patient and 12 male hemophilia A patients.

Hemophilia A (HA) is an X-chromosome-linked recessive genetic disorder. Female carriers may have bleeding symptoms, but rarely have moderate or severe disease. We identified a female patient with moderate HA by pedigree tracking and genetic testing in a HA family involving consanguineous marriage.

Potential-Dependent Adhesion Forces between dsDNA and Electroactive Surfaces.

A promising approach to regulating the interactions between polyelectrolytes and materials is the use of electroactive surfaces that can change their charge state. However, common electroactive groups are too unstable to be practical for this purpose. Here we have performed a single molecule force spectroscopy study of the interactions between dsDNA and an 1,1'-biferrocenylene (BFD = bis(fulvalene)diiron)-terminated self-assembled monolayer surface that allows us to reversibly change the charge state.

[Characterization of the novel HLA-A*24:191 allele and analysis of its MHC molecular modeling structure].

Objective: To characterize a novel HLA allele, A*24:191, its DNA sequence, MHC modeling structure, and the possible influence of the amino-acid residue variations on the molecule.

Methods: The HLA sequence was determined by Luminex PCR-SSO and PCR-SBT. Its MHC molecular structure and the possible effects of the amino-acid residue variations were modeled and analyzed with Phyre2, RCSB PDB and HistoCheck software.

[Identification of a rare platelet-specific antigen HPA-10bw allele among ethnic Han Chinese population in Shandong].

Objective: To study the polymorphism of human platelet antigen (HPA) system 10 among ethnic Han Chinese from Shandong, China so as to supplement the data of platelet donor bank in the region.

Methods: Peripheral blood samples of platelet donors from the region were genotyped for HPA-10 alleles by PCR-sequence specific primer (PCR-SSP) and direct sequencing.

Results: Among 1401 donors, a rare heterozygote carrier of HPA-10w (a+b+) was identified, which gave an allelic frequency of approximately 0.

[Congenital Fibrinogen Deficiency Caused by Novel FGG Gene Mutation].

Objective: To detect and analyze coagulation related indexes and genotypes of a patient with congenital fibrinogen deficiency and his family members, and to investigate the possible molecular pathogenesis.

Methods: Four peripheral blood samples (proband and 3 family members) were collected and the prothrombin time (PT), activated partial thromboplastin time (APTT), thrombin time (TT), fibrinogen (Fg), D-Dimer and eight coagulation factor indicators were detected. All exons and flanking sequences of the FGA, FGB, and FGG genes encoding the three peptide chains of fibrinogen were sequenced and analyzed by bioinformatics.

An investigation of the prevalence of in anuran amphibians from fourteen areas in China.

is a species which is morphological distinguishable for its very narrow and elongated trophozoite. Although there were a few studies about its morphology since its first report in 1882, none investigations about its prevalence have ever been reported to date. We investigated the prevalence of in 25 anuran amphibian species from five provinces of China using both morphological and molecular methods.

Sense-antisense gene overlap is probably a cause for retaining the few introns in Giardia genome and the implications.

Background: It is widely accepted that the last eukaryotic common ancestor and early eukaryotes were intron-rich and intron loss dominated subsequent evolution, thus the presence of only very few introns in some modern eukaryotes must be the consequence of massive loss. But it is striking that few eukaryotes were found to have completely lost introns. Despite extensive research, the causes of massive intron losses remain elusive.

A new species of Giardia Künstler, 1882 (Sarcomastigophora: Hexamitidae) in hamsters.

Background: Giardia spp. are flagellated protozoan parasites that infect humans and many other vertebrates worldwide. Currently seven species of Giardia are considered valid.

Giardia's primitive GPL biosynthesis pathways with parasitic adaptation 'patches': implications for Giardia's evolutionary history and for finding targets against Giardiasis.

Giardia is a worldwide spread protozoan parasite colonizing in small intestines of vertebrates, causing Giardiasis. The controversy about whether it is an extremely primitive eukaryote or just a highly evolved parasite has become a fetter to its uses as a model for both evolutionary and parasitological studies for years. Glycerophospholipid (GPL) synthesis is a conserved essential cellular process, and thus may retain some original features reflecting its evolutionary position, and this process should also have undergone parasitic adaptation to suit Giardia's dietary lipid-rich environment.

Evolutionary dynamics of triosephosphate isomerase gene intron location pattern in Metazoa: A new perspective on intron evolution in animals.

Intron evolution, including its dynamics in the evolutionary transitions and diversification of eukaryotes, remains elusive. Inadequate taxon sampling due to data shortage, unclear phylogenetic framework, and inappropriate outgroup application might be among the causes. Besides, the integrity of all the introns within a gene was often neglected previously.

DAT1 methylation is associated with methylphenidate response on oppositional and hyperactive-impulsive symptoms in children and adolescents with ADHD.

Objectives: To examine the association of the DNA methylation of DAT1 and DRD4 gene with methylphenidate (MPH) response in attention deficit hyperactivity disorder (ADHD).

Methods: One hundred and eleven DSM-IV defined ADHD Chinese Han children were recruited. Inattention, hyperactivity-impulsivity and oppositional symptoms were evaluated by the Swanson, Nolan and Pelham-IV-parent rating scale (SNAP-IV-P) at baseline and 6 weeks after MPH treatment.

Retraction note: Risk miRNA screening of ovarian cancer based on miRNA functional synergistic network.

The Publisher and Editor regretfully retract this article (Ying H, Lyu J, Ying T, Li J, Jin S, Shao J, et al. Risk miRNA screening of ovarian cancer based on miRNA functional synergistic network. J Ovarian Res.

Retraction note: Gene-gene interaction network analysis of ovarian cancer using TCGA data.

The Publisher and Editor regretfully retract this article (Ying H, Lv J, Ying T, Jin S, Shao J, Wang L, et al. Gene-gene interaction network analysis of ovarian cancer using TCGA data. J Ovarian Res.

Risk miRNA screening of ovarian cancer based on miRNA functional synergistic network.

Background: miRNAs are proved to have causal roles in tumorgenesis involving various types of human cancers, but the mechanism is not clear. We aimed to explore the effect of miRNAs on the development of ovarian cancer and the underlying mechanism.

Methods: The miRNA expression profile GSE31801 was downloaded from GEO (Gene Expression Omnibus) database.

Gene-gene interaction network analysis of ovarian cancer using TCGA data.

Background: The Cancer Genome Atlas (TCGA) Data portal provides a platform for researchers to search, download, and analysis data generated by TCGA. The objective of this study was to explore the molecular mechanism of ovarian cancer pathogenesis.

Methods: Microarray data of ovarian cancer were downloaded from TCGA database, and Limma package in R language was used to identify the differentially expressed genes (DEGs) between ovarian cancer and normal samples, followed by the function and pathway annotations of the DEGs.

Electrochemical etching of gold within nanoshaved self-assembled monolayers.

Wet etching of metal substrates with patterned self-assembled monolayers (SAMs) is an inexpensive and convenient method to produce metal nanostructures. For this method to be relevant to the fabrication of high precision plasmonic structures, the kinetics of nanoscale etching process, particularly in the lateral direction, must be elucidated and controlled. We herein describe an in situ atomic force microscopy (AFM) study to characterize the etching process within patterned SAMs with nanometer resolution and in real time.

Nanografting sodium dodecyl sulfate under potential control: new insights into tip-directed molecular assembly.

We have demonstrated that under potential control, sodium dodecyl sulfate can form ordered and stable patterns within nanoscale regions of a pre-existing SAM where thiol molecules have been mechanically removed. The results offer novel insights into the mechanism of nanografting and new routes to fabricating diverse chemical structures on surfaces.

High-density gold nanowire arrays by lithographically patterned nanowire electrodeposition.

Here we describe a new method for preparing multiple arrays of parallel gold nanowires with dimensions and separation down to 50 nm. This method uses photolithography to prepare an electrode consisting of a patterned nickel film on glass, onto which a gold and nickel nanowire array is sequentially electrodeposited. After the electrodeposition, the nickel is stripped away, leaving behind a gold nanowire array, with dimensions governed by the gold electrodeposition parameters, spacing determined by the nickel electrodeposition parameters, and overall placement and shape dictated by the photolithography.

Polymorphisms in PPARD, PPARG and APM1 associated with four types of traditional Chinese medicine constitutions.

Based on the theory of constitution of Traditional Chinese Medicine (TCM), the human population is divided into nine constitutions including one balanced constitution (Normality) and eight unbalanced constitutions (Yang-deficiency, Yin-deficiency, Phlegm-wetness, Qi-deficiency, Wetness-heat, Blood stasis, Depressed constitution, and Inherited special constitution). Different constitutions have specific metabolic features and different susceptibility to certain diseases. However, whether a genetic basis accounts for such constitution classification is yet to be determined.

Lack of association of TLR4 gene Asp299Gly and Thr399Ile polymorphisms with rheumatoid arthritis in Chinese Han population of Yunnan Province.

Rheumatoid arthritis (RA) is a systemic autoimmune disease characterized by chronic inflammation of synovium and subsequent joint destruction. Recently, genetic polymorphisms within the toll-like receptor 4 (TLR4) genes have been reported to be associated with RA. To analyze the association between the genetic polymorphisms within TLR4 gene and the susceptibility to RA in Chinese people, two functional variants, Asp299Gly and Thr399Ile, in the TLR4 gene were genotyped using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and direct sequencing techniques from 213 RA patients and 247 ethnically matched controls.