Penazaphilones J-L, Three New Hydrophilic Azaphilone Pigments from and Their Anti-Inflammatory Activity.

Penazaphilones J-L (-), three new hydrophilic azaphilone pigments, as well as six known compounds, were discovered from the filamentous fungus cib-411. Compounds - were structurally elucidated by the detailed interpretation of their 1D and 2D NMR spectroscopic data. Compound is an unprecedented hybrid of an azaphilone and a glycerophosphate choline.

Chaetomadramines A-E, a class of siderophores with potent neuroprotective activity from the fungus Chaetomium madrasense cib-1.

Five hydroxamate siderophores, chaetomadramines A-E (1-5), along with seven known compounds were isolated from the fermented rice culture of the fungus Chaetomium madrasense cib-1. Compounds 1-5 were structurally elucidated on the basis of spectroscopic data, which were a group of unusual hydroxamate siderophores, bearing a long fatty acyl on the α-NH of the N-hydroxylated ornithine. Compounds 2-5 were new.

Chaetonigrisins A-L, a group of 3-Indole-1,2-Propanediol derived alkaloids from Chaetomium nigricolor YT-2.

Thirteen new alkaloids (1-13) as well as ten known compounds were isolated from the solid-state fermented rice medium of the fungus Chaetomium nigricolor YT-2. Their structures were elucidated on the basis of spectroscopic data, quantum calculations, and single crystal X-ray crystallographic analysis. Chaetonigrisin A (1) represents an unprecedented carbon skeleton featuring a polycyclic 1H-pyrano[3,2:3,4-]​furo[2,​3-​b]​indole.

Cyclopiazonic Acid and Okaramine Analogues, Including Chlorinated Compounds, from YT-1.

Eight new cyclopiazonic acid (-) and five new okaramine (-) alkaloids together with 13 known compounds were isolated from the fungus YT-1. Compounds , , , , , , and were chlorinated indole alkaloids. The structures of compounds - were elucidated by HRESIMS and NMR spectroscopic data.

Relationship between CCR and NT-proBNP in Chinese HF patients, and their correlations with severity of HF.

Aim: To evaluate the relationship between creatinine clearance rate (CCR) and the level of N-terminal pro-B-type natriuretic peptide (NT-proBNP) in heart failure (HF) patients and their correlations with HF severity.

Methods And Results: Two hundred and one Chinese patients were grouped according to the New York Heart Association (NYHA) classification as NYHA 1-2 and 3-4 groups and 135 cases out of heart failure patients as control group. The following variables were compared among these three groups: age, sex, body mass index (BMI), smoking status, hypertension, diabetes, NT-proBNP, creatinine (Cr), uric acid (UA), left ventricular end-diastolic diameter (LVEDD), and CCR.

Association between ε2/3/4, promoter polymorphism (-491A/T, -427T/C, and -219T/G) at the apolipoprotein E gene, and mental retardation in children from an iodine deficiency area, China.

Background: Several common single-nucleotide polymorphisms (SNPs) at apolipoprotein E (ApoE) have been linked with late onset sporadic Alzheimer's disease and declining normative cognitive ability in elder people, but we are unclear about their relationship with cognition in children.

Results: We studied -491A/T, -427T/C, and -219G/T promoter polymorphisms and ε2/ε3/ε4 at ApoE among children with mental retardation (MR, n = 130), borderline MR (n = 124), and controls (n = 334) from an iodine deficiency area in China. The allelic and genotypic distribution of individual locus did not significantly differ among three groups with Mantel-Haenszel χ (2) test (P > 0.

Rapid quantification of DNA methylation by measuring relative peak heights in direct bisulfite-PCR sequencing traces.

Various technologies are currently available to quantify DNA methylation. However, rapid and simple methods for determining the DNA methylation status of CpG sites in genes still remain elusive. In this report, we describe a novel method for the rapid quantification of CpG methylation on the basis of direct bisulfite-PCR sequencing method.

[Implementation and application of a digital cytopathological lung cancer diagnosing system].

Objective: To evaluate the efficacy of the digital cytopathological lung cancer diagnosing system (DCLCDS) utilizing the latest computer technologies (including reinforcement learning, image segmentation and classifier) and the cytopathological knowledge on lung cancer cells.

Methods: Separate the overlapped lung cancer cells in a slice image applying the improved deBoor-Cox B-Spline algorithm; Segment cell regions in a slice image using an image segmentation algorithm based on reinforcement learning; Ensemble different classifiers, including Decision Tree classifier, Support Vector Machine (SVM) classifier and Bayesian classifier, to achieve an accurate result of cytopathological lung cancer diagnosis.

Results: The accurate diagnosis rate for lung cancer identification of 224 images of small lung lesions aspiration biopsy from 120 cases randomly selected was 92.

A meta-analysis of association between C677T polymorphism in the methylenetetrahydrofolate reductase gene and hypertension.

The C677T polymorphism of the methylenetetrahydrofolate reductase (MTHFR) gene was implicated to be associated with hypertension due to its role in catalyzing the formation of 5-methylenetetrahydrofolate, a co-substrate for the conversion of homocysteine to methionine. Association studies were reported in different populations; however, a great number of subsequent studies have produced contrary results, possibly reflecting inadequate statistical power. With the cumulative data in recent years in both Caucasian and Asian populations, it was necessary to carry out a comprehensive analysis of previous findings.

The relationship between the therapeutic response to risperidone and the dopamine D2 receptor polymorphism in Chinese schizophrenia patients.

Antipsychotic drugs exert both therapeutic and adverse effects through dopamine D2 receptor (DRD2) antagonism. Genetic variants of this receptor may be responsible for individual variations in neuroleptic response and may therefore be useful in predicting response. In this study we evaluated the role of six polymorphisms of the DRD2 gene in 125 risperidone-treated Chinese schizophrenia patients following the hypothesis that variation in the DRD2 gene could affect drug response.

A novel mutation of PAX3 in a Chinese family with Waardenburg syndrome.

Purpose: The molecular characterization of 34 members of a Chinese family, with 22 members in four generations, affected with Waardenburg syndrome (WS1).

Methods: A detailed family history and clinical data were collected. A genome-wide scan by two-point linkage analysis using more than 400 microsatellite markers in combination with haplotype analysis was performed.

No observable relationship between the ACE gene insertion/deletion polymorphism and psychometric IQ and psychomotor ability in Chinese children.

The primary aim of this study was to investigate the impact of the angiotensin I-converting enzyme gene (ACE) on general cognitive ability, specific cognitive ability and psychomotor function in Chinese children. In total, 450 children completed both C-WISC tests and ACE I/D genotyping. Of these, 320 children were examined using psychomotor tests.

A two-stage linkage analysis of Chinese schizophrenia pedigrees in 10 target chromosomes.

We performed a two-stage linkage scan involving 25 Chinese schizophrenia families, focusing on 10 target chromosomes which have already been the subject of considerable research. We initially genotyped 237 individuals with 186 markers, five candidate regions were then chosen for fine mapping and 49 additional markers were genotyped. In region 1q21-23, a maximum multipoint HLOD (HLOD=2.

An association study between the transthyretin (TTR) gene and mental retardation.

It is known that in the pathogenesis of mental retardation (MR), both genetic and environmental factors (particularly iodine deficiency) appear to play a critical role. Transthyretin (TTR) transports between 20% and 30% of serum thyroxine in normal individuals and it is the main T(4)-binding protein in CSF. Variability in the TTR gene may influence risk for iodine-deficiency-based MR.

Identification of a novel ADAR mutation in a Chinese family with dyschromatosis symmetrica hereditaria (DSH).

Dyschromatosis symmetrica hereditaria (DSH [MIM 127400]) is characterized by the presence of hyperpigmented and hypopigmented macules mostly on the dorsal aspects of the extremities. Genetic studies have identified mutations in the ADAR gene, encoding double-stranded RNA-specific adenosine deaminase, to be responsible for this disorder. Here, we found a novel deletion mutation in the ADAR gene, 2929delA, in a Chinese family with DSH.

[Mutation detection of COL1A1 gene in a pedigree with osteogenesis imperfecta].

Osteogenesis imperfecta (OI) is heritable bone fragility,which is inherited as an autosomal dominant trait clinical presentation. Clinical symptom, in general, is dominantly inherited OI with blue sclerae, hearing loss and mild-moderate skeletal deformity. Genetic loci of OI have been mapped to17q21.

A locus for familial generalized lentiginosis without systemic involvement maps to chromosome 4q21.1-q22.3.

Generalized lentiginosis (GL) is characterized by widespread lentigines without associated noncutaneous abnormalities. In this study we performed a genome-wide linkage search in a Chinese family with GL and localized the familial GL locus to chromosome 4q21.1-q22.

A family-based association study of PLP1 and schizophrenia.

Recently, proteolipid protein 1 (PLP1) has been identified as downregulated in schizophrenia by quantitative PCR and other technologies. In this work we attempted to investigate the role of PLP1 in the etiology of schizophrenia using a family based association study in 487 Chinese Han family trios. The TDT for allelic association demonstrated that, in male, a weak association was detected in SNP rs475827 with p=0.

Association of DAAO with schizophrenia in the Chinese population.

Recently, the gene called DAAO was reported to be associated with schizophrenia in the French Canadian populations. Here, we report a result obtained in the study of our large collection of 547 schizophrenia cases and 536 controls in the Chinese population. Six single-nucleotide polymorphisms (SNPs) were genotyped at and around the DAAO locus, covering a 10-kb region entirely encompassing the complementary DNA sequences of DAAO.

A novel insertion mutation in the FOXL2 gene is detected in a big Chinese family with blepharophimosis-ptosis-epicanthus inversus.

Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES), an autosomal dominant syndrome in which an eyelid malformation is associated (type I) or not (type II) with premature ovarian failure (POF), has recently been ascribed to mutations in the forkhead transcription factor 2 (FOXL2) gene. In this work, we reveal a novel insertion mutation in the 3'UTR of the FOXL2 gene in a big Chinese family which is to our knowledge the first BPES (type II) family reported in China. It is the first time that a 3'UTR mutation in the FOXL2 gene has ever been found to demonstrate a close correlation between genotype and BPES.

Association of G72/G30 with schizophrenia in the Chinese population.

Recently, the G72 gene was reported to be associated with schizophrenia in the French Canadian and Russian populations. Here, we report the results obtained from the study of six single-nucleotide polymorphisms (SNPs: rs3916965, rs3916967, rs2391191, rs1935062, rs778293, and rs3918342), which span an 82-kb region covering the complementary DNA sequences of G72 and G30, in 537 schizophrenia cases and 538 controls of the Han Chinese. In this work, we have identified statistically significant differences in allele distributions of two markers rs3916965 (P = 0.

[Transmission disequilibrium test of polymorphisms of serotonin transporter gene and schizophrenia based on family trios].

Objective: To investigate the relationship between two polymorphisms (Intronic VNTR and 5-HTTLPR) of the serotonin transporter gene and schizophrenia.

Methods: A set of 314 schizophrenic trio samples collected from Shanghai, Xi'an and Jilin regions of China independently was subjected to analysis of the polymorphisms by transmission/disequilibrium test(TDT).

Results: No significantly preferential transmission of any allele was detected from both polymorphisms investigated.

A gene locus responsible for dyschromatosis symmetrica hereditaria (DSH) maps to chromosome 6q24.2-q25.2.

Dyschromatosis symmetrica hereditaria (DSH) is a hereditary skin disease characterized by the presence of hyperpigmented and hypopigmented macules on extremities and face. The gene, or even its chromosomal location, for DSH has not yet been identified. In this study, two Chinese families with DSH were identified and subjected to a genomewide screen for linkage analysis.