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You searched for: Journal name Genes & genomics Remove constraint Journal name: Genes & genomics Publication year rev 7982-2018 Remove constraint Publication year rev: 7982-2018
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1. A case of interdigitating dendritic cell sarcoma studied by whole-exome sequencing

Author:
Ki Hwan Hong; Soyoung Song; Wonseok Shin; Keunsoo Kang; Chun-Sung Cho; Yong Tae Hong; Kyudong Han; Jeong Hwan Moon
Source:
Genes & genomics 2018 v.40 no.12 pp. 1279-1285
ISSN:
1976-9571
Subject:
DNA; DNA-directed DNA polymerase; bioinformatics; blood; case studies; dendritic cells; etiology; gene ontology; genes; genetic factors; immunohistochemistry; neoplasm cells; pathogenesis; patients; sarcoma; single nucleotide polymorphism
Abstract:
... Interdigitating dendritic cell sarcoma (IDCS) is an aggressive neoplasm and is an extremely rare disease, with a challenging diagnosis. Etiology of IDCS is also unknown and most studies with only case reports. In our case, immunohistochemistry showed that the tumor cells were positive for S100, CD45, and CD68, but negative for CD1a and CD21. This study aimed to investigate the causative factors of ...
DOI:
10.1007/s13258-018-0724-y

2. A head transcriptome provides insights into odorant binding proteins of the bamboo grasshopper

Author:
Ran Li; Guo-Fang Jiang; Si-Yu Dong
Source:
Genes & genomics 2018 v.40 no.9 pp. 991-1000
ISSN:
1976-9571
Subject:
antennae; bamboos; binding proteins; databases; ecology; genes; genomics; grasshoppers; head; high-throughput nucleotide sequencing; odor compounds; pests; protocols; reverse transcriptase polymerase chain reaction; semiochemicals; tissue distribution; tissues; transcriptome; transcriptomics; China
Abstract:
... The bamboo grasshopper Ceracris kiangsu is a famous bamboo pest in China. The identification of genes involved in olfactory behavior of C. kiangsu is necessary for better understanding the molecular basis and expression profiles of behavior ecology. However, necessary genomic and transcriptomic data are lacking in the species, limiting control efficiency. The primary objective of this study was to ...
DOI:
10.1007/s13258-018-0706-0

3. A novel homozygous mutation in SZT2 gene in Saudi family with developmental delay, macrocephaly and epilepsy

Author:
Muhammad Imran Naseer; Mohammad Khalid Alwasiyah; Angham Abdulrahman Abdulkareem; Rayan Abdullah Bajammal; Carlos Trujillo; Muhammad Abu-Elmagd; Mohammad Alam Jafri; Adeel G. Chaudhary; Mohammad H. Al-Qahtani
Source:
Genes & genomics 2018 v.40 no.11 pp. 1149-1155
ISSN:
1976-9571
Subject:
chromosomes; databases; epilepsy; exons; frontal lobe; glutamic acid; homozygosity; humans; mice; mutation; phenotype; sequence analysis; siblings
Abstract:
... Epileptic encephalopathies are genetically heterogeneous disorders which leads to epilepsy and cause neurological disorders. Seizure threshold 2 (SZT2) gene located on chromosome 1p34.2 encodes protein mainly expressed predominantly in the parietal and frontal cortex and dorsal root ganglia in the brain. Previous studies in mice showed that mutation in this gene can confers low seizure threshold, ...
DOI:
10.1007/s13258-018-0673-5

4. A novel mutation in RDH5 gene causes retinitis pigmentosa in consanguineous Pakistani family

Author:
Neelam Sultan; Irfan Ali; Shazia Anwer Bukhari; Shahid Mahmood Baig; Muhammad Asif; Muhammad Qasim; Muhammad Imran Naseer; Mahmood Rasool
Source:
Genes & genomics 2018 v.40 no.5 pp. 553-559
ISSN:
1976-9571
Subject:
alanine; alleles; counseling; early diagnosis; exons; genotype-phenotype correlation; high-throughput nucleotide sequencing; homozygosity; loci; macular degeneration; missense mutation; mutants; patients; pedigree; phenotype; proteins; serine; Pakistan
Abstract:
... Retinitis pigmentosa (RP) is the most frequent genetically and clinically heterogeneous inherited retinal degeneration. To date, more than 80 genes have been identified that cause autosomal dominant, autosomal recessive and X linked RP. However, locus and allelic heterogeneity of RP has not been fully captured yet. This heterogeneity and lack of an accurate genotype phenotype correlation makes mol ...
DOI:
10.1007/s13258-018-0657-5

5. An efficient and tunable parameter to improve variant calling for whole genome and exome sequencing data

Author:
Yong Ju Ahn; Kesavan Markkandan; In-Pyo Baek; Seyoung Mun; Wooseok Lee; Heui-Soo Kim; Kyudong Han
Source:
Genes & genomics 2018 v.40 no.1 pp. 39-47
ISSN:
1976-9571
Subject:
genome; genomics; high-throughput nucleotide sequencing; human genetics; South Korea
Abstract:
... Next generation sequencing (NGS) has traditionally been performed in various fields including agricultural to clinical and there are so many sequencing platforms available in order to obtain accurate and consistent results. However, these platforms showed amplification bias when facilitating variant calls in personal genomes. Here, we sequenced whole genomes and whole exomes from ten Korean indivi ...
DOI:
10.1007/s13258-017-0608-6

6. Analyses of karyotype by G-banding and high-resolution microarrays in a gender dysphoria population

Author:
Rosa Fernández; Antonio Guillamón; Esther Gómez-Gil; Isabel Esteva; Mari Cruz Almaraz; Joselyn Cortés-Cortés; Beatriz Lamas; Estefanía Lema; Eduardo Pásaro
Source:
Genes & genomics 2018 v.40 no.5 pp. 465-473
ISSN:
1976-9571
Subject:
aneuploidy; chromosome banding; chromosomes; copy number variation; etiology; gender; genes; karyotyping; microarray technology; Spain
Abstract:
... Gender Dysphoria is characterized by a marked incongruence between the cerebral sex and biological sex. To investigate the possible influence of karyotype on the etiology of Gender Dysphoria we carried out the cytogenetic analysis of karyotypes in 444 male-to-females (MtFs) and 273 female-to-males (FtMs) that attended the Gender Identity Units of Barcelona and Málaga (Spain) between 2000 and 2016. ...
DOI:
10.1007/s13258-017-0646-0

7. Analysis of gene expression in red maple (Acer rubrum) and trembling aspen (Populus tremuloides) populations from a mining region

Author:
K. N. Kalubi; P. Michael; A. Omri
Source:
Genes & genomics 2018 v.40 no.11 pp. 1127-1136
ISSN:
1976-9571
Subject:
Acer rubrum; Populus tremuloides; complementary DNA; environmental factors; gene expression; gene expression regulation; genes; mining; nickel; plant adaptation; transcription (genetics); tubulin; Canada
Abstract:
... The Greater Sudbury Region has been known as one of the most ecologically disturbed areas in Canada for the past century. Plant adaptation to environmental stressors often results in modifications in gene expression at the transcriptional level. The main objective of the present study was to compare the expression of genes associated with nickel resistance in Acer rubrum and Populus tremuloides gr ...
DOI:
10.1007/s13258-018-0670-8

8. Analysis of sulphur and chlorine induced DNA cytosine methylation alterations in fresh corn (Zea mays L. saccharata and rugosa) leaf tissues by methylation sensitive amplification polymorphism (MSAP) approach

Author:
Tinashe Zenda; Songtao Liu; Daxuan Yao; Huijun Duan
Source:
Genes & genomics 2018 v.40 no.9 pp. 913-925
ISSN:
1976-9571
Subject:
DNA; DNA methylation; Zea mays; abiotic stress; chlorine; corn; crops; cultivars; cytosine; demethylation; filling period; genome; hybrids; leaves; loci; oligodeoxyribonucleotides; photosynthates; soil fertility; stress response; sulfur; tissues
Abstract:
... DNA (cytosine) methylation mechanism is another way through which plants respond to various cues including soil fertility amendments and abiotic stresses, and the mechanism has been used to infer some physiological, biochemical or adaptation processes. Despite numerous studies on global DNA methylation profiling in various crop species, however, researches on fresh corn (Zea mays L. saccharata or ...
DOI:
10.1007/s13258-018-0685-1

9. Analysis of synonymous codon usage bias in helicase gene from Autographa californica multiple nucleopolyhedrovirus

Author:
Hongju Wang; Tao Meng; Wenqiang Wei
Source:
Genes & genomics 2018 v.40 no.7 pp. 767-780
ISSN:
1976-9571
Subject:
Autographa californica multiple nucleopolyhedrovirus; DNA helicases; DNA replication; Escherichia coli; amino acid composition; amino acids; cluster analysis; codons; evolution; host range; humans; mice; mutation; yeasts
Abstract:
... The helicase gene of Autographa californica multiple nucleopolyhedrovirus (AcMNPV) is not only involved in viral DNA replication, but also plays a role in viral host range. To identify the codon usage bias of helicase of AcMNPV, the codon usage bias of helicase was especially studies in AcMNPV and 41 reference strains of baculoviruses by calculating the codon adaptation index (CAI), effective numb ...
DOI:
10.1007/s13258-018-0689-x

10. Association analysis of the SNP (rs345476947) in the FUT2 gene with the production and reproductive traits in pigs

Author:
Haifei Wang; Sen Wu; Jiayun Wu; Shouyong Sun; Shenglong Wu; Wenbin Bao
Source:
Genes & genomics 2018 v.40 no.2 pp. 199-206
ISSN:
1976-9571
Subject:
neonates; duodenum; lymph; eyes; gene expression; spleen; genotype; Large White; introns; selection methods; messenger RNA; muscles; reproductive traits; kidneys; sows; backfat; single nucleotide polymorphism; quantitative polymerase chain reaction; liver; fat thickness; genetic variation; piglets; birth weight
Abstract:
... The FUT2 gene was considered as an important candidate for pathogenic infections, while the potential associations between this gene and the production and reproductive traits of pigs have not been explored. In this study, we detected the genetic variants of porcine FUT2 gene and analyzed the associations of the polymorphisms with FUT2 mRNA expression and production and reproductive traits (age at ...
DOI:
10.1007/s13258-017-0623-7

11. Association between STAT4 polymorphisms and risk of primary biliary cholangitis: a meta-analysis

Author:
Li Zhang; Chunming Gao; Chuanmiao Liu; Jiasheng Chen; Kuihua Xu
Source:
Genes & genomics 2018 v.40 no.10 pp. 1101-1109
ISSN:
1976-9571
Subject:
confidence interval; genetic models; genotype; liver diseases; meta-analysis; odds ratio; risk; signal transduction; transactivators
Abstract:
... Primary biliary cholangitis (PBC) is a chronic autoimmune liver disease. Several studies reported that SATA4 (signal transducer and activator of transcription 4) polymorphisms were significantly associated with PBC susceptibility. In order to derive a more comprehensive estimation of the association between STAT4 and PBC risk, this meta-analysis was conducted. Thirteen eligible studies from 8 arti ...
DOI:
10.1007/s13258-018-0717-x

12. Association between expression levels and growth trait-related SNPs located in promoters of the MC4R and MSTN genes in Spinibarbus hollandi

Author:
Yang Yang; Zhaojun Lan; Hu Shu; Huiqiang Zhou; Xiaolu Jiang; Liping Hou; Pinghua Gu
Source:
Genes & genomics 2018 v.40 no.11 pp. 1119-1125
ISSN:
1976-9571
Subject:
Spinibarbus; brain; fish; genes; genotype; growth performance; growth traits; marker-assisted selection; muscles; myostatin; single nucleotide polymorphism
Abstract:
... Melanocortin 4 receptor: (MC4R) and Myostatin (MSTN) are two important growth trait-related genes in animals. In this study, we showed that two SNPs, MC4R-719A>G and MSTN-519C>T, found in the promoters of the MC4R and MSTN genes, respectively, are both associated with growth traits in Spinibarbus hollandi. Furthermore, we observed that there were significant associations between the expression lev ...
DOI:
10.1007/s13258-018-0666-4

13. Association between the length of the MUC8-minisatellite 5 region and susceptibility to chronic obstructive pulmonary disease (COPD)

Author:
Se-Ra Lee; Won-Tae Kim; Tae Nam Kim; Jong Kil Nam; Woo Jin Kim; Sun-Hee Leem
Source:
Genes & genomics 2018 v.40 no.1 pp. 123-127
ISSN:
1976-9571
Subject:
alleles; asthma; case-control studies; confidence interval; epithelial cells; heterozygosity; humans; minisatellite repeats; mucins; mucus; risk factors
Abstract:
... In asthma and chronic obstructive pulmonary disease (COPD), mucins display disease-related alterations caused by airway mucus obstruction. MUC5AC, MUC5B and MUC8 are known as the major secretory mucins in human airway epithelial cells. Analysis of mucin genes has identified the presence of several features with a variable number of tandem repeats (VNTR; minisatellites) in the central region of eac ...
DOI:
10.1007/s13258-017-0630-8

14. Association of rs1057035polymorphism in microRNA biogenesis pathway gene (DICER1) with azoospermia among Iranian population

Author:
Sahar Moghbelinejad; Reza Najafipour; Abdolmabood Momeni
Source:
Genes & genomics 2018 v.40 no.1 pp. 17-24
ISSN:
1976-9571
Subject:
alleles; biogenesis; blood; gene expression; genotype; male fertility; men; microRNA; quantitative polymerase chain reaction; single nucleotide polymorphism; spermatogenesis; testes
Abstract:
... Since genes involved in microRNA biogenesis pathways have a main role in impaired spermatogenesis, in this research, we evaluated different genotypes frequency of seven single-nucleotide polymorphisms in DICER1 and DROSHA genes. Different genotypes frequency of DICER1 (rs12323635, rs1057035, rs13078 and rs3742330) and DROSHA (rs10719, rs642321 and rs2291102) were determined by sequencing method in ...
DOI:
10.1007/s13258-017-0605-9

15. Associations of HSP90AA2 gene polymorphisms with disease susceptibility, glucocorticoids efficacy and health-related quality of life in Chinese systemic lupus erythematosus patients

Author:
Man Zhang; Su-Su Li; Qiao-Mei Xie; Jian-Hua Xu; Xiu-Xiu Sun; Fa-Ming Pan; Sheng-Qian Xu; Sheng-Xiu Liu; Jin-Hui Tao; Shuang Liu; Jing Cai; Pei-Ling Chen; Long Qian; Chun-Huai Wang; Chun-Mei Liang; Hai-Liang Huang; Hai-Feng Pan; Hong Su; Yan-Feng Zou
Source:
Genes & genomics 2018 v.40 no.10 pp. 1069-1079
ISSN:
1976-9571
Subject:
alleles; case-control studies; disease susceptibility; genotyping; glucocorticoids; haplotypes; lupus erythematosus; mental health; models; patients; quality of life; questionnaires; risk; single nucleotide polymorphism; therapeutics
Abstract:
... Although the current glucocorticoids (GCs) treatment for systemic lupus erythematosus (SLE) is effective to a certain extent, the difference in therapeutic effect between patients is still a widespread problem. Some patients can have repeated attacks that greatly diminish their quality of life. This study was conducted to investigate the relationship between HSP90AA2 polymorphisms and disease susc ...
DOI:
10.1007/s13258-018-0714-0

16. BAG3 mutation in a patient with atypical phenotypes of myofibrillar myopathy and Charcot–Marie–Tooth disease

Author:
Seung Ju Kim; Soo Hyun Nam; Sumaira Kanwal; Da Eun Nam; Da Hye Yoo; Jong-Hee Chae; Yeon-Lim Suh; Ki Wha Chung; Byung-Ok Choi
Source:
Genes & genomics 2018 v.40 no.12 pp. 1269-1277
ISSN:
1976-9571
Subject:
atrophy; biopsy; blood serum; cardiomyopathy; creatine kinase; electrophysiology; females; gait; heterozygosity; magnetic resonance imaging; muscles; muscular diseases; mutation; patients; peripheral nervous system diseases; phenotype; sequence analysis
Abstract:
... Bcl2-associated athanogene 3 (BAG3) mutations have been reported to cause the myofibrillar myopathy (MFM) which shows progressive limb muscle weakness, respiratory failure, and cardiomyopathy. Myopathy patients with BAG3 mutation are very rare. We described a patient showing atypical phenotypes. We aimed to find the genetic cause of Korean patients with sensory motor polyneuropathy, myopathy and r ...
DOI:
10.1007/s13258-018-0721-1

17. BMP3 promoter hypermethylation in plasma-derived cell-free DNA in colorectal cancer patients

Author:
Parisa Rokni; Afsaneh Mojtabanezhad Shariatpanahi; Ebrahim Sakhinia; Mohammad Amin Kerachian
Source:
Genes & genomics 2018 v.40 no.4 pp. 423-428
ISSN:
1976-9571
Subject:
DNA; DNA methylation; biomarkers; biopsy; bisulfites; blood serum; bone morphogenetic proteins; colorectal neoplasms; melting; patients; tumor suppressor genes
Abstract:
... Detecting cfDNA in plasma or serum could serve as a ‘liquid biopsy’, for circulating tumor DNA with aberrant methylation patterns offer a possible method for early detection of several cancers which could avoid the need for tumor tissue biopsies. Bone Morphogenetic Protein 3 (BMP3) was identified as a candidate tumor suppressor gene putatively down-regulated in colorectal cancer (CRC). In this stu ...
DOI:
10.1007/s13258-017-0644-2

18. Bordetella bronchiseptica bateriophage suppresses B. bronchiseptica-induced inflammation in swine nasal turbinate cells

Author:
Ga Young Park; Hye Min Lee; Hyun Jin Yu; Jee Soo Son; Sang Joon Park; Kyoung Seob Song
Source:
Genes & genomics 2018 v.40 no.12 pp. 1383-1388
ISSN:
1976-9571
Subject:
Bordetella bronchiseptica; antibiotics; bacteria; bacterial infections; bacteriophages; chemokines; disease control; dose response; gene expression; genes; immune response; inflammation; interleukin-1beta; interleukin-6; mucins; nose; quantitative polymerase chain reaction; respiratory tract diseases; secretion; swine; swine diseases; therapeutics
Abstract:
... The development of therapeutic bacteriophages will provide several benefits based on an understanding the basic physiological dynamics of phage and bacteria interactions for therapeutic use in light of the results of antibiotic abuse. However, studies on bacteriophage therapeutics against microbes are very limited, because of lack of phage stability and an incomplete understanding of the physiolog ...
DOI:
10.1007/s13258-018-0755-4

19. Characterization and comparative expression analysis of CUL1 genes in rice

Author:
Sang-Hoon Kim; Og-Geum Woo; Hyunsoo Jang; Jae-Hoon Lee
Source:
Genes & genomics 2018 v.40 no.3 pp. 233-241
ISSN:
1976-9571
Subject:
Oryza sativa; abiotic stress; abscisic acid; amino acids; gene expression regulation; genes; hormones; rice; scaffolding proteins; seeds; ubiquitin-protein ligase
Abstract:
... Cullin-RING E3 ubiquitin ligase (CRL) complex is known as the largest family of E3 ligases. The most widely characterized CRL, SCF complex (CRL1), utilizes CUL1 as a scaffold protein to assemble the complex components. To better understand CRL1-mediated cellular processes in rice, three CUL1 genes (OsCUL1s) were isolated in Oryza sativa. Although all OsCUL1 proteins exhibited high levels of amino ...
DOI:
10.1007/s13258-017-0622-8

20. Characterization and development of EST-SSR markers to study the genetic diversity and populations analysis of Jerusalem artichoke (Helianthus tuberosus L.)

Author:
Shipeng Yang; Qiwen Zhong; Jie Tian; Lihui Wang; Mengliang Zhao; Li Li; Xuemei Sun
Source:
Genes & genomics 2018 v.40 no.10 pp. 1023-1032
ISSN:
1976-9571
Subject:
Helianthus annuus; Helianthus tuberosus; Jerusalem artichokes; alleles; biofuels; breeding; cluster analysis; computer software; expressed sequence tags; feeds; genetic distance; genetic heterogeneity; genetic markers; genetic similarity; genotype; germplasm; loci; microsatellite repeats; new variety; oligodeoxyribonucleotides; provenance; sugars; unigenes
Abstract:
... In recent years, Jerusalem artichoke has received widespread attention as a novel source of sugar, biofuel, and animal feed. Currently, only few gDNA-SSRs derived from sunflower were verified in the Jerusalem artichoke; therefore, it is particularly important to develop SSR primer markers that belonged to Jerusalem artichoke resources. Using EST data to develop EST-SSR markers is simple and effect ...
DOI:
10.1007/s13258-018-0708-y