21,649 results match your criteria Gene[Journal]


Identification of arylsulfatase B gene mutations and clinical presentations of Iranian patients with Mucopolysaccharidosis VI.

Gene 2019 Apr 19. Epub 2019 Apr 19.

Diabetes Research Center, Health Research Institute, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran; Department of Medical Genetics, School of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran. Electronic address:

Background: Mucopolysaccharidosis (MPS) type VI, also known as Maroteaux-Lamy syndrome, is an autosomal recessive lysosomal storage disorder caused by a deficiency in arylsulfatase B (ARSB) enzyme. Our objectives were to investigate clinical phenotypes and performed molecular studies in Iranian patients with MPS VI, for the first time, in the southwestern Iran.

Methods: We studied 14 cases from 10 unrelated kindreds with MPS VI that were enrolled during 8 years. Read More

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http://dx.doi.org/10.1016/j.gene.2019.04.050DOI Listing
April 2019
1 Read

Megaviruses: An involvement in phytohormone receptor gene transfer in brown algae?

Gene 2019 Apr 19. Epub 2019 Apr 19.

Groupe d'Etude des Interactions Hôte-Pathogène, GEIHP, EA3142, Univ Angers, SFR 4208 ICAT, Angers, France. Electronic address:

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http://dx.doi.org/10.1016/j.gene.2019.04.055DOI Listing

Evaluating the performance of sequence encoding schemes and machine learning methods for splice sites recognition.

Gene 2019 Apr 19. Epub 2019 Apr 19.

ICAR-Indian Agricultural Statistics Research Institute, New Delhi 110012, India. Electronic address:

Identification of splice sites is imperative for prediction of gene structure. Machine learning-based approaches (MLAs) have been reported to be more successful than the rule-based methods for identification of splice sites. However, the strings of alphabets should be transformed into numeric features through sequence encoding before using them as input in MLAs. Read More

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http://dx.doi.org/10.1016/j.gene.2019.04.047DOI Listing
April 2019
1 Read

The characteristic of Arachis duranensis-specific genes and their potential function.

Gene 2019 Apr 19. Epub 2019 Apr 19.

Grassland Agri-husbandry Research Center, Qingdao Agricultural University, Qingdao, China. Electronic address:

Arachis species produce flowers aerially, and then grow into the ground, where they develop into fruits; a feature that is unique to Arachis species. We hypothesized that Arachis species evolved genes specifically involved in the control of aerial flowers and the formation of underground fruits. Arachis duranensis is more resistant to biotic and abiotic stressors. Read More

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http://dx.doi.org/10.1016/j.gene.2019.04.052DOI Listing

Genetic status of indigenous poultry (red jungle fowl) from India.

Gene 2019 Apr 19. Epub 2019 Apr 19.

Department of Biotechnology, Assam University, Silchar, Assam Pin-788011, India; University of Kalyani, Nadia, West Bengal Pin-741235, India. Electronic address:

The global biodiversity of domesticated red jungle fowl (Gallus gallus) is gradually eroding by replacement with commercial poultry breeds and results loss of valuable genetic and physical traits like resistance to disease, extreme environment, etc. posing a threat to the poultry genetic resources. Very fewer reports exist on Indian poultry diversity, especially native chicken of India. Read More

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http://dx.doi.org/10.1016/j.gene.2019.04.051DOI Listing

Novel association of SNP rs479200 in EGLN1 gene with predisposition to preeclampsia.

Gene 2019 Apr 19. Epub 2019 Apr 19.

Department of Cell Biology and Molecular Genetics, Sri Devaraj Urs Academy of Higher Education and Research, Kolar, India. Electronic address:

Objectives: Placental hypoxia is a hallmark of preeclampsia. SNP rs479200 in the EGLN1 gene is associated with reduced responsiveness to hypoxia. Whether this translates into an association between SNP rs479200 and preeclampsia is not known. Read More

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http://dx.doi.org/10.1016/j.gene.2019.04.049DOI Listing

miR-193a targets MLL1 mRNA and drastically decreases MLL1 protein production: Ectopic expression of the miRNA aberrantly lowers H3K4me3 content of the chromatin and hampers cell proliferation and viability.

Gene 2019 Apr 18. Epub 2019 Apr 18.

Epigenetics and Cancer Research Laboratory, Biochemistry and Molecular Biology Group, Department of Life Science, National Institute of Technology, Rourkela, Odisha 769008, India. Electronic address:

Mixed-lineage leukaemia 1 (MLL1) enzyme plays major role in regulating genes associated with vertebrate development. Cell physiology and homeostasis is regulated by microRNAs in diverse microenvironment. In this investigation we have identified conserved miR-193a target sites within the 3'-UTR of MLL1 gene transcript. Read More

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http://dx.doi.org/10.1016/j.gene.2019.04.046DOI Listing
April 2019
2.138 Impact Factor

Targeted methods for molecular characterization of EGFR mutational profile in lung cancer Moroccan cohort.

Gene 2019 Apr 17. Epub 2019 Apr 17.

Laboratory of Genetics and Molecular Pathology, Faculty of Medicine and Pharmacy of Casablanca, University Hassan II, Casablanca 20250, Morocco.

The study of EGFR gene mutational profile in NSCLC patients has a special clinical significance in the selection of patients for tyrosine-kinase inhibitors therapy. From 2017, the targeted therapy started to be accessible in public sector in Morocco, thus, the implementation of techniques for the molecular characterization of EGFR mutations in the laboratories became a necessity. The aim of this study was to present targeted methods "ADx-ARMS technology and the Idylla™ system" for the identification of EGFR mutational profile, methods that can be implemented in our clinical laboratories for routine analysis instead of outsourcing analysis to other countries. Read More

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http://dx.doi.org/10.1016/j.gene.2019.04.044DOI Listing
April 2019
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BDNF Val66Met genetic variation and its plasma level in patients with morbid obesity: A case-control study.

Gene 2019 Apr 17. Epub 2019 Apr 17.

Department of Biochemistry, School of Medicine, Shiraz University of Medical Sciences, Shiraz, Iran. Electronic address:

Obesity is a major public health concern worldwide. Genetic, behavioral, and environmental factors contribute to the multifactorial etiology of obesity. Evidence suggests an association between human Brain-Derived Neurotrophic Factor (BDNF) Val66Met single nucleotide polymorphism (SNP) and obesity. Read More

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http://dx.doi.org/10.1016/j.gene.2019.04.045DOI Listing

Molecular characterization and expression of SiFad1 in the sea urchin (Strongylocentrotus intermedius).

Gene 2019 Apr 17. Epub 2019 Apr 17.

Key Laboratory of Mariculture & Stock Enhancement in North China's Sea, Ministry of Agriculture and Rural Affairs, Dalian Ocean University, Dalian, Liaoning 116023, PR China.

Fatty acid desaturases (Fads) are a key enzyme in the process of biosynthesis of highly unsaturated fatty acids (HUFAs). In this study, we cloned the full-length sequence of the SiFad1 gene (SiFad1) and analyzed its expression profiles during different developmental stages and in different tissues of Strongylocentrotus intermedius. The full-length cDNA of SiFad1 is composed of 1086 bp, with a putative open reading frame of 885 bp encoding a polypeptide of 294 amino acid (AA) residues. Read More

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http://dx.doi.org/10.1016/j.gene.2019.04.043DOI Listing

NF-κB inhibitor, BAY11-7082, suppresses M2 tumor-associated macrophage induced EMT potential via miR-30a/NF-κB/Snail signaling in bladder cancer cells.

Gene 2019 Apr 16. Epub 2019 Apr 16.

Department of Ultrasonography, Zhejiang Provincial People's Hospital, People's Hospital of Hangzhou Medical College, Hangzhou 310014, China. Electronic address:

Background: Chronic inflammatory microenvironment has been shown to play a key role in initiating tumorigenesis and facilitating malignant progression. Primary tumors surrounded with and infiltrated by tumor-associated macrophages (TAMs) significantly promote the epithelial-to-mesenchymal transition (EMT) and distant metastasis in urothelial bladder cancer.

Methods: In this study, we aimed to explore the potential of targeting TAMs for the treatment of malignant bladder cancer. Read More

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http://dx.doi.org/10.1016/j.gene.2019.04.039DOI Listing

Mitochondrial genome characterization of Melipona bicolor: Insights from the control region and gene expression data.

Gene 2019 Apr 16. Epub 2019 Apr 16.

Universidade de São Paulo, Instituto de Biociências - Departamento de Genética e Biologia Evolutiva, Sala 320, Rua do Matão, 277, Cidade Universitária, São Paulo, SP 05508-900, Brazil.

The stingless bee Melipona bicolor is the only bee in which true polygyny occurs. Its mitochondrial genome was first sequenced in 2008, but it was incomplete and no information about its transcription was known. We combined short and long reads of M. Read More

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http://dx.doi.org/10.1016/j.gene.2019.04.042DOI Listing
April 2019
1 Read

Inactivation of Rab27B-dependent signaling pathway by calycosin inhibits migration and invasion of ER-negative breast cancer cells.

Gene 2019 Apr 16. Epub 2019 Apr 16.

School of Basic Medical Sciences, Guilin Medical University, Guilin 541004, China; Key Laboratory of Tumor Immunology and Microenvironmental Regulation, Guilin Medical University, Guilin 541004, China. Electronic address:

Previous studies report the upregulation of the secretory Rab27B small GTPase in human breast cancer, which could promote invasive growth and metastasis in estrogen receptor (ER)-positive breast cancer cells. However, there is limited evidence for its role in ER-negative breast cancer, along with the signaling pathways. Consistent with previous studies, we here confirmed that Rab27B is upregulated in breast tumor tissue in comparison with normal breast tissue. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S03781119193034
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http://dx.doi.org/10.1016/j.gene.2019.04.005DOI Listing
April 2019
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Genome-wide identification, phylogeny and function analysis of GRAS gene family in Dendrobium catenatum (Orchidaceae).

Gene 2019 Apr 15. Epub 2019 Apr 15.

Institute of Medicinal Plant Development, Chinese Academy of Medical Sciences, Beijing 100193, China. Electronic address:

Background: In recent years, the molecular mechanism of plant growth and development has been reported in detail. GRAS genes, a plant-specific family of transcription factor, play critical roles in the process. GRAS transcription factors are associated with axillary shoot meristem formation, radial root patterning, phytohormones (gibberellins) signal transduction, light signaling, and abiotic or biotic stress. Read More

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http://dx.doi.org/10.1016/j.gene.2019.04.038DOI Listing

Combination of clotam and vincristine enhances anti-proliferative effect in medulloblastoma cells.

Gene 2019 Apr 13. Epub 2019 Apr 13.

Texas College of Osteopathic Medicine, University of North Texas Health Science Center, Fort Worth, TX 76107, USA; Department of Hematology and Oncology, Cook Children's Medical Center, Fort Worth, TX 76104, USA. Electronic address:

Medulloblastoma (MB) is characterized by highly invasive embryonal neuro-epithelial tumors that metastasize via cerebrospinal fluid. MB is difficult to treat and the chemotherapy is associated with significant toxicities and potential long-term disabilities. Previously, we showed that small molecule, clotam (tolfenamic acid: TA) inhibited MB cell proliferation and tumor growth in mice by targeting, survivin. Read More

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http://dx.doi.org/10.1016/j.gene.2019.04.037DOI Listing

Functional analysis of citrus AP2 transcription factors identified CsAP2-09 involved in citrus canker disease response and tolerance.

Gene 2019 Apr 13. Epub 2019 Apr 13.

Citrus Research Institute, Southwest University/Chinese Academy of Agricultural Sciences, Chongqing 400712, PR China. Electronic address:

Genetic engineering approaches offer an alternative method to the citrus canker resistance breeding. The ethylene response factor (ERF) family is a member of families of transcription factors that are particular to plants and contribute significantly to biotic stress response and to plant growth. CsAP2-09 belongs to the citrus AP2/ERF transcription factor family. Read More

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http://dx.doi.org/10.1016/j.gene.2019.04.021DOI Listing
April 2019
2 Reads

A family with a mild form of congenital nystagmus and optic disc coloboma caused by a novel PAX6 mutation.

Gene 2019 Apr 12. Epub 2019 Apr 12.

Department of Neurology, School of Medicine, Kyungpook National University, Kyungpook National University Chilgok hospital, Daegu, Republic of Korea. Electronic address:

Congenital nystagmus (CN) is a heterogeneous disease that shows variable clinical features. There are a few mutations that are known to cause CN. Among them, a PAX6 mutation is known to cause CN with an extremely high frequency of aniridia. Read More

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http://dx.doi.org/10.1016/j.gene.2019.04.035DOI Listing

Differential global and MTHFR gene specific methylation patterns in preeclampsia and recurrent miscarriages: A case-control study from North India.

Gene 2019 Apr 12;704:68-73. Epub 2019 Apr 12.

Department of Anthropology, University of Delhi, Delhi, India. Electronic address:

Aim: The purpose of the present study is to evaluate and understand the association of global and MTHFR gene specific methylation in preeclampsia and recurrent miscarriages in light of MTHFR C677T polymorphism.

Methods: The subjects comprised of recurrent miscarriage cases, their gestation matched controls, preeclampsia cases and matched controls. A set of women at full term were also recruited. Read More

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http://dx.doi.org/10.1016/j.gene.2019.04.036DOI Listing
April 2019
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Monoallelic expression of the TTR gene as a contributor to the age at onset and penetrance of TTR-related amyloidosis.

Gene 2019 Apr 11. Epub 2019 Apr 11.

Genetic Medico-Diagnostic Laboratory Genica, Sofia, Bulgaria; IMDL Genome Center "Bulgaria", Sofia, Bulgaria; Department of Medical Chemistry and Biochemistry, Medical University Sofia, Sofia, Bulgaria.

TTR-related amyloidosis (ATTR) is manifested in two allelic forms: familial amyloid polyneuropathy (TTR-FAP) and cardiomyopathy (TTRFAC), both caused by mutations in the TTR gene. The most prevalent mutation in Bulgaria is p.Glu89Gln. Read More

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http://dx.doi.org/10.1016/j.gene.2019.04.030DOI Listing

Expression of type II collagen and aggrecan genes is regulated through distinct epigenetic modifications of their multiple enhancer elements.

Gene 2019 Apr 11. Epub 2019 Apr 11.

Department of Tissue Regeneration, Tokyo Medical and Dental University, Bunkyo-ku, Tokyo 113-8549, Japan. Electronic address:

To maintain normal function of cartilage tissue normally, the presence of a sufficient amount of type II collagen and aggrecan is essential, and their synthesis is tightly regulated. Therefore, understanding the mechanisms that control the expression of type II collagen and aggrecan would be useful for understanding gene expression changes in diseases such as osteoarthritis. Recently, we have identified two pairs of enhancer elements, termed E1 and E2 in the type II collagen gene and Ea and Eb in the aggrecan gene. Read More

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http://dx.doi.org/10.1016/j.gene.2019.04.034DOI Listing
April 2019
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Genetic screening for MC4R gene identifies three novel mutations associated with severe familiar obesity in a cohort of Spanish individuals.

Gene 2019 Apr 11;704:74-79. Epub 2019 Apr 11.

Genomics Group, Fundación Investigación Hospital General Universitario de Valencia, Valencia, Spain; Laboratory of Molecular Genetics, Clinical Analysis Service, Consorcio Hospital General Universitario de Valencia, Valencia, Spain. Electronic address:

MC4R gene is a hypothalamic satiety control mediator in which mutations cause a monogenic form of obesity. The aim of this study was to perform a genetic screening to identify variations in the entire region of MC4R gene. A total of 236 unrelated and severely obese patients (BMI ≥ 40 kg/m) with Spanish ancestry and severe overweight familiar history have been enrolled into the study. Read More

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http://dx.doi.org/10.1016/j.gene.2019.04.018DOI Listing

LncRNA SNHG15 acts as an oncogene in prostate cancer by regulating miR-338-3p/FKBP1A axis.

Gene 2019 Apr 11. Epub 2019 Apr 11.

Department of Urology, Zhejiang Provincial People's Hospital, Hangzhou Medical College, Hangzhou, Zhejiang 310014, China. Electronic address:

Long non-coding RNAs (lncRNAs) are crucial regulators in the progression of various diseases. Although the role of lncRNAs in prostate cancer (PCa) has been studied in recent years, there are still numerous lncRNAs need to be elucidated. This study aims to detect the role of lncRNA small nucleolar RNA host gene 15 (SNHG15) in human prostate cancer. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S03781119193038
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http://dx.doi.org/10.1016/j.gene.2019.04.033DOI Listing
April 2019
2 Reads

Function of heat shock protein 70 in the thermal stress response of Dermatophagoides farinae and establishment of an RNA interference method.

Gene 2019 Apr 11. Epub 2019 Apr 11.

Department of Pathogen Biology and Immunology, School of Basic Medical Sciences, Xi'an Jiaotong University, Xi'an 710061, China.

Dermatophagoides farinae are an important mite species that cause stored product deterioration and allergic diseases. They widely breed in human habitats because of their strong tolerance to extreme external temperatures. However, mechanisms underlying the stress response and tolerance of D. Read More

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http://dx.doi.org/10.1016/j.gene.2019.04.032DOI Listing

The Yin and Yang of cancer genes.

Gene 2019 Apr 10. Epub 2019 Apr 10.

Laboratory of Molecular Oncology, Centre for DNA Fingerprinting and Diagnostics, Inner Ring Road, Uppal, Hyderabad 500039, India.

Cancer is caused by malfunctioning of genes that normally regulate cardinal processes including various nuclear functions, cell division and survival, cell surface to nucleus signaling cascades, etc. Cancer associated genes are often classified as oncogenes (OCGs) or tumor suppressor genes (TSGs) depending on whether they promote or suppress tumorigenesis, respectively. Such strict classification of cancer genes may however be an over-simplification. Read More

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http://dx.doi.org/10.1016/j.gene.2019.04.025DOI Listing

Mutation spectrum and pivotal features for differential diagnosis of Mucopolysaccharidosis IVA patients with severe and attenuated phenotype.

Gene 2019 Apr 11;704:59-67. Epub 2019 Apr 11.

Department of Medical Genetics, Istanbul University, Medical School, Istanbul, Turkey.

Mucopolysaccharidosis IVA (MPS IVA) is a lysosomal storage disease caused by biallelic mutations in GALNS gene and characterized by progressive skeletal deformities with short stature. The aim of this study was to evaluate the genotype, longitudinal height measurement and clinical features of MPS IVA patients. Thirty-two patients from 22 families were enrolled. Read More

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http://dx.doi.org/10.1016/j.gene.2019.04.026DOI Listing

Gastrin promotes angiogenesis by activating HIF-1α/β-catenin/VEGF signaling in gastric cancer.

Gene 2019 Apr 10;704:42-48. Epub 2019 Apr 10.

Department of General Surgery, Qingpu Branch of Zhongshan Hospital, Fudan University, Shanghai 201700, China. Electronic address:

Angiogenesis is recognized as a sign of cancer and facilitates cancer progression and metastasis. Suppression of angiogenesis is a desirable strategy for gastric cancer (GC) management. In this study, we showed a novel role of gastrin in angiogenesis of GC. Read More

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http://dx.doi.org/10.1016/j.gene.2019.04.029DOI Listing
April 2019
3 Reads

Molecular analysis of ampR and ampD to understand variability in inducible expression of "BlaB-like" cephalosporinase in Yersinia enterocolitica biotype 1A.

Gene 2019 Apr 11;704:25-30. Epub 2019 Apr 11.

Department of Microbiology, University of Delhi South Campus, New Delhi 110021, India. Electronic address:

Yersinia enterocolitica strains produce two chromosomal β‑lactamases, BlaA - a constitutively produced penicillinase, and BlaB - an inducible "AmpC-type" cephalosporinase. As in other members of Enterobacteriaceae, expression of ampC in Y. enterocolitica is regulated by the genes - ampR and ampD. Read More

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http://dx.doi.org/10.1016/j.gene.2019.04.031DOI Listing
April 2019
2.138 Impact Factor

Assessment of environmental gene tags linked with carbohydrate metabolism and chemolithotrophy associated microbial community in River Ganga.

Gene 2019 Apr 9;704:31-41. Epub 2019 Apr 9.

Molecular Ecology Laboratory, Centre of Advanced Study in Botany, Institute of Science, Banaras Hindu University, Varanasi 221005, India. Electronic address:

The microbial community mediated biogeochemical cycles play important role in global C-cycle and display a sensitive response to environmental changes. Limited information is available on microbial composition and functional diversity controlling biogeochemical cycles in the riverine environment. The Ganga River water and sediment samples were studied for environmental gene tags with reference to carbohydrate metabolism, photoheterotrophy and chemolithotrophy using high throughput shotgun metagenomic sequencing and functional annotation. Read More

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http://dx.doi.org/10.1016/j.gene.2019.04.004DOI Listing

A clinical and genetic study of 16 Japanese families with Waardenburg syndrome.

Gene 2019 Apr 10;704:86-90. Epub 2019 Apr 10.

Department of Otolaryngology, National Hospital Organization Tokyo Medical Center, Tokyo, Japan; Division of Hearing and Balance Research, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, Tokyo, Japan. Electronic address:

The purpose of this study is to profile the clinical and genetic features of Japanese Waardenburg syndrome (WS) patients and validate the W index. Sixteen Japanese WS families with congenital sensorineural hearing loss were included in the study. The inner canthal, interpupillary, and outer canthal distances (ICD, IPD, and OCD) were measured for all patients, and patients were screened for presence of PAX3, MITF, SOX10, and EDNRB mutations. Read More

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http://dx.doi.org/10.1016/j.gene.2019.04.023DOI Listing

Molecular diagnosis of asparagine synthetase (ASNS) deficiency in two Indian families and literature review of 29 ASNS deficient cases.

Gene 2019 Apr 9;704:97-102. Epub 2019 Apr 9.

Sandor Speciality Diagnostics Pvt Ltd, Banjara Hills, Road No.3, Hyderabad, India.

In the current study, we report three cases of Asparagine Synthetase (ASNS) Deficiency from two consanguineous families. Family 1 had two early neonatal deaths due to a novel mutation in the ASNS gene c.788C > T (p. Read More

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http://dx.doi.org/10.1016/j.gene.2019.04.024DOI Listing
April 2019
1 Read

The DNA methylation level is associated with the superior growth of the hybrid fry in snakehead fish (Channa argus × Channa maculata).

Gene 2019 Apr 9;703:125-133. Epub 2019 Apr 9.

Key Laboratory of Tropical and Subtropical Fishery Resources Application and Cultivation, Ministry of Agriculture, Pearl River Fisheries Research Institute, Chinese Academy of Fishery Sciences, Guangzhou 510380, China. Electronic address:

Hybrid vigour, or heterosis, refers to the increased productivity and growth rate of hybrid offsprings relative to the parents. Various heterosis have been well exploited in fish for fisheries. However, the molecular mechanisms underlying heterosis are largely unknown in fish. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S03781119193033
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http://dx.doi.org/10.1016/j.gene.2019.03.072DOI Listing
April 2019
3 Reads

High intensity interval training decreases the expressions of KIF5B and Dynein in Hippocampus of Wistar male rats.

Gene 2019 Apr 9;704:8-14. Epub 2019 Apr 9.

Department of Physical Education and Sport Sciences, Faculty of Literature and Human Sciences, Vali E Asr University of Rafsanjan, Rafsanjan, IR, Iran.

Although exercise training (ET) with low to moderate intensity improves several physiological aspects of brain, the effects of high intensity interval training (HIIT) are less clear on brain plasticity and cytoplasmic transport. The present study examined the effects of HIIT on the gene and protein expressions of kinesin family member 5B (KIF5B) and Dynein in the Wistar male rat hippocampal tissue. Fourteen male Wistar rats were separated into 2 groups: (1) the training group (TG: n = 7) and (2) the control group (CG: n = 7). Read More

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http://dx.doi.org/10.1016/j.gene.2019.04.027DOI Listing

Molecular and bioinformatics analyses reveal two differentially expressed intracellular GH1 β-glucosidases from the rare alkalophilic fungus Stachybotrys microspora.

Gene 2019 Apr 8;703:134-144. Epub 2019 Apr 8.

Laboratory of Molecular Biotechnology of Eucaryotes, Centre of Biotechnology of Sfax, Road of Sidi Mansour, B.O 1177, 3018, University of Sfax, Tunisia.

The present study reports the isolation and analysis of two novel GH1 β-glucosidases from the alkalophilic fungus Stachybotrys microspora, using PCR and Nested-PCR. Three major gene fragments were obtained by PCR: the first two are very similar and constitute a novel gene, which was named Smbgl1A, and the third PCR fragment is part of a different gene, named Smbgl1B. The truncated gene sequences were completely filled using the recent partial whole genome sequencing data of S. Read More

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http://dx.doi.org/10.1016/j.gene.2019.04.007DOI Listing

RNA sequencing revealing the role of AMP-activated protein kinase signaling in mice myocardial ischemia reperfusion injury.

Gene 2019 Apr 8;703:91-101. Epub 2019 Apr 8.

Department of Cardiology, The Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, Wenzhou 325000, Zhejiang, China. Electronic address:

Long non-coding RNAs (lncRNA) and circular RNAs (circRNA) that sponge miRNAs could indirectly regulate gene expression, contributing to certain biological processes. This study aimed to investigate the role of non-coding RNAs in the pathogenesis of myocardial ischemia reperfusion-injury (MIRI). MIRI in male C57B/6J mice was induced by left anterior descending coronary artery ligation occlusion for 30 min, and 4 h of reperfusion. Read More

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http://dx.doi.org/10.1016/j.gene.2019.04.010DOI Listing

A novel heterozygous large deletion of MSH6 gene in a Chinese family with Lynch syndrome.

Gene 2019 Apr 8. Epub 2019 Apr 8.

Department of Gastrointestinal Surgery, Hubei Cancer Hospital, 116 Zuodaoquan South Road, Wuhan, Hubei, China; Colorectal Cancer Clinical Research Center of Wuhan, 116 Zuodaoquan South Road, Wuhan, Hubei, China; Colorectal Cancer Clinical Research Center of Hubei Province, 116 Zuodaoquan South Road, Wuhan, Hubei, China. Electronic address:

Lynch syndrome (LS) is a common cancer syndrome that is inherited in an autosomal dominant manner. Its pathogenesis is thought to be closely related to germline mutations of mismatch repair (MMR) genes such as the MLH1, MSH2, PMS2 and MSH6 genes. This study identifies a Chinese family with LS clinically diagnosed according to the Amsterdam II criteria. Read More

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http://dx.doi.org/10.1016/j.gene.2019.04.011DOI Listing
April 2019
1 Read

A novel ABHD12 nonsense variant in Usher syndrome type 3 family with genotype-phenotype spectrum review.

Gene 2019 Apr 8. Epub 2019 Apr 8.

Department of Otolaryngology-Head and Neck Surgery, Xiangya Hospital, Central South University, Changsha, Hunan 410008, China; Institute of Molecular Precision Medicine, Xiangya Hospital, Central South University, Changsha, Hunan 410008, China; National Clinical Research Center for Geriatric Disorders, Xiangya Hospital, Central South University, Changsha, Hunan 410008, China. Electronic address:

Usher syndrome (USH) is a clinically common autosomal recessive disorder characterized by retinitis pigmentosa (RP) and sensorineural hearing loss with or without vestibular dysfunction. In this study, we identified a Hunan family of Chinese descent with two affected members clinically diagnosed with Usher syndrome type 3 (USH3) displaying hearing, visual acuity, and olfactory decline. Whole-exome sequencing (WES) identified a nonsense variant in ABHD12 gene that was confirmed to be segregated in this family by Sanger sequencing and exhibited a recessive inheritance pattern. Read More

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http://dx.doi.org/10.1016/j.gene.2019.04.008DOI Listing
April 2019
2.138 Impact Factor

Delayed elimination of paternal mtDNA in the interspecific hybrid of Pelteobagrus fulvidraco and Pelteobagrus vachelli during early embryogenesis.

Gene 2019 Apr 7;704:1-7. Epub 2019 Apr 7.

College of Fisheries, Huazhong Agricultural University, Wuhan 430070, China. Electronic address:

Mitochondrial homoplasmy is essential for normal development, as its heteroplasmy usually leads to abnormal or diseased phenotypes in mammals. So far, diverse mechanisms have been proposed to play roles in ensuring uniparental inheritance of mitochondria in many organisms. In recent years, hybrid yellow catfish from mating female yellow catfish (Pelteobagrus fulvidraco) with male darkbarbel catfish (Pelteobagrus vachelli) has been widely cultured in China due to its fast-growing. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S03781119193036
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http://dx.doi.org/10.1016/j.gene.2019.04.022DOI Listing
April 2019
1 Read

LncRNA CASC11 promotes TGF-β1, increases cancer cell stemness and predicts postoperative survival in small cell lung cancer.

Gene 2019 Apr 6;704:91-96. Epub 2019 Apr 6.

Department of Oncology, Liaocheng People's Hospital, Liaocheng City, Shandong Province 252000, PR China. Electronic address:

LncRNA CASC11 is a recently identified oncogenic lncRNA in colorectal cancer. This study aimed to investigate the role of lncRNA CASC11 in small cell lung cancer (SCLC). In the present study, expression levels of CASC11 and TGF-β1 were found to be positively and significantly correlated with the percentage of CDD133+ cells of SCLC cell lines. Read More

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http://dx.doi.org/10.1016/j.gene.2019.04.019DOI Listing
April 2019
2.138 Impact Factor

Correlation of CYP2D6 allelic polymorphism to outcome of acute coronary syndrome in mid-Euphrates Iraqi patients on metoprolol therapy.

Gene 2019 Apr 6;703:112-119. Epub 2019 Apr 6.

School of Life Sciences, College of Science, Health and Engineering, La Trobe University, Bundoora, VIC 3086, Australia. Electronic address:

This study aims to investigate the different clinically relevant allele variants (allele frequencies) of CYP2D6 gene and to determine whether a specific genotype of CYP2D6 gene (based on genetic polymorphism "allelic types" and combination) have impact on metoprolol effectiveness (clinical outcome) in patients who have acute coronary syndrome (ACS). The study included 250 patients with ACS who were classified into 2 study groups, 125 patients received metoprolol and served as a study group (Group1) and 125 who received no metoprolol therapy (due to contraindication to the medication) and served as a control group (Group 2). Venous blood samples were taken from all participants for DNA extraction. Read More

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http://dx.doi.org/10.1016/j.gene.2019.04.012DOI Listing
April 2019
1 Read
2.138 Impact Factor

Osmolarity and calcium regulate connective tissue growth factor (CTGF/CCN2) expression in nucleus pulposus cells.

Gene 2019 Apr 6;704:15-24. Epub 2019 Apr 6.

Department of Orthopaedics, Changzheng Hospital, Second Military Medical University, Shanghai 200003, China. Electronic address:

Objective: The objective of our study was to verify the hypothesis that the expression of connective tissue growth factor (CTGF/CCN2), a key molecule essential for the maintenance of nucleus pulposus (NP) matrix homeostasis, is regulated by osmolarity and intracellular calcium in NP cells.

Methods: Gene and protein expression levels of CCN2 were assessed using quantitative real-time PCR and western blot. Transfections and dual luciferase assays were performed to measure the effect of hyperosmolarity, tonicity enhancer binding protein (TonEBP) and Ca-calcineurin (Cn)-NFAT signaling on CCN2 promoter activity. Read More

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http://dx.doi.org/10.1016/j.gene.2019.04.020DOI Listing
April 2019
3 Reads
2.138 Impact Factor

Identifying gene modules of thyroid cancer associated with pathological stage by weighted gene co-expression network analysis.

Gene 2019 Apr 6. Epub 2019 Apr 6.

Department of Head and Neck Surgery, Affiliated Tumor Hospital of Guangxi Medical University, Nanning 530021, PR China. Electronic address:

Thyroid cancer is the most common type of endocrine tumor. The TNM classification remains a standard for treatment determination and predicting prognosis in thyroid cancer. The genes modules associated with the progression of papillary thyroid carcinoma (PTC) were not clear. Read More

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http://dx.doi.org/10.1016/j.gene.2019.04.017DOI Listing
April 2019
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Desulfovibrio alaskensis prophages and their possible involvement in the horizontal transfer of genes by outer membrane vesicles.

Gene 2019 Apr 6;703:50-57. Epub 2019 Apr 6.

Departamento de Biologia Geral, Universidade Federal de Viçosa, Viçosa, Brazil. Electronic address:

Desulfovibrio alaskensis is a Gram-negative bacterial species that belongs to the group of Sulphate Reducing Bacteria (SRB) and presents prophages in genomes, a common characteristic of the genus Desulfovibrio. Genetic material can be transported by outer membrane vesicles, however, no data regarding the production of these vesicles has been reported for D. alaskensis. Read More

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http://dx.doi.org/10.1016/j.gene.2019.04.016DOI Listing

Allelic variations in genes belonging to glutathione system increase proliferative retinopathy risk in type 1 diabetes individuals.

Gene 2019 Apr 5;703:120-124. Epub 2019 Apr 5.

Laboratório de Carboidratos e Radioimunoensaio (LIM-18), Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de Sao Paulo. Av. Dr. Arnaldo, 455 - Sala: 3324, Sao Paulo, SP, 01246-903, Brazil; Programa de Pós-graduação em Medicina, Universidade Nove de Julho (UNINOVE). Rua Vergueiro 235, São Paulo, SP, 01504-001, Brazil. Electronic address:

Aims: Given the participation of oxidative stress in the pathogenesis of diabetic complications, we evaluated, in type 1 diabetes (T1D) individuals, the association between diabetic retinopathy (DR) and functional single nucleotide polymorphisms (SNPs) in regulatory regions of two genes belonging to the antioxidant glutathione (GSH) system: rs17883901 in GCLC and rs713041 in GPX4.

Methods: A cross-sectional case-control study included 288 individuals (61% women, 34[±11] years old, diabetes duration of 22[±9] years, mean [±SD]) sorted according to DR stages: absence of DR (ADR), non-proliferative DR (NPDR) and proliferative DR (PDR). SNPs were genotyped by real-time PCR using fluorescent labelled probes. Read More

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http://dx.doi.org/10.1016/j.gene.2019.04.015DOI Listing
April 2019
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Glucose transporter 3 gene variant is associated with survival outcome of patients with non-small cell lung cancer after surgical resection.

Gene 2019 Apr 4;703:58-64. Epub 2019 Apr 4.

Department of Biochemistry and Cell Biology, School of Medicine, Kyungpook National University, Daegu, Republic of Korea; BK21 Plus KNU Biomedical Convergence Program, Department of Biomedical Science, Kyungpook National University, Daegu, Republic of Korea; Department of Internal Medicine, School of Medicine, Kyungpook National University, Daegu, Republic of Korea; Lung Cancer Center, Kyungpook National University Chilgok Hospital, Daegu, Republic of Korea; Cell and Matrix Research Institute, School of Medicine, Kyungpook National University, Daegu, Republic of Korea. Electronic address:

This study was conducted to explore whether polymorphisms of glucose transporter 3 (GLUT3) gene affect the prognosis of patients with non-small cell lung cancer (NSCLC) after surgical resection. Four single nucleotide polymorphisms (SNPs) in GLUT3 were investigated in a total of 782 patients with NSCLC who underwent curative surgery. The association of the SNPs with overall survival (OS) and disease free survival (DFS) was analyzed. Read More

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http://dx.doi.org/10.1016/j.gene.2019.04.013DOI Listing
April 2019
3 Reads

Transcriptome analysis to identify long non coding RNA (lncRNA) and characterize their functional role in back fat tissue of pig.

Gene 2019 Apr 5;703:71-82. Epub 2019 Apr 5.

Animal Genomics and Bioinformatics Division, National Institute of Animal Science, RDA, Wanju 55365, Republic of Korea. Electronic address:

Long non coding RNAs (lncRNA) have been previously found to be involved in important cellular activities like epigenetics, implantation, cell growth etc. in pigs. However, comprehensive analysis of lncRNA in back fat tissues at different developmental stages in pigs is still lacking. Read More

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http://dx.doi.org/10.1016/j.gene.2019.04.014DOI Listing
April 2019
2 Reads
2.138 Impact Factor

CDCA8 is a key mediator of estrogen-stimulated cell proliferation in breast cancer cells.

Gene 2019 Apr 3;703:1-6. Epub 2019 Apr 3.

Department of Breast Surgery, The People's Hospital of Cangzhou, Cangzhou 061000, Hebei, China. Electronic address:

Endocrine therapy is effective in the early stage of breast cancer treatment, and most tumor cells will gain the ability to proliferate under residual amounts of estrogen, which will cause the recurrence of the disease. The role of cell division cycle associated 8 (CDCA8) in Estradiol (E2)-stimulated breast cancer cells growth is investigated in this research. CDCA8 showed higher mRNA expression in E2-stimulated MCF7 and T47D cells, and such an increase could also be observed in tumor samples. Read More

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http://dx.doi.org/10.1016/j.gene.2019.04.006DOI Listing
April 2019
4 Reads

Transcriptome analysis reveals novel insights in air-breathing magur catfish (Clarias magur) in response to high environmental ammonia.

Gene 2019 Apr 3;703:35-49. Epub 2019 Apr 3.

Biochemical Adaptation Laboratory, Department of Zoology, North-Eastern Hill University, Shillong 793022, India. Electronic address:

The facultative air-breathing magur catfish (Clarias magur) frequently face different environmental challenges, such as hyper-ammonia, and desiccation stresses in their natural habitats. All these stresses lead to higher accumulation of body ammonia, thereby causing various harmful effects to the fish due to its toxicity. Nonetheless, the mechanisms underlying ammonia-induced toxicity is yet not clear. Read More

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http://dx.doi.org/10.1016/j.gene.2019.04.009DOI Listing

CRISPR/Cas9 genome editing of SLC37A4 gene elucidates the role of molecular markers of endoplasmic reticulum stress and apoptosis in renal involvement in glycogen storage disease type Ib.

Gene 2019 Apr 3;703:17-25. Epub 2019 Apr 3.

Institute of Molecular Genetics and Genetic Engineering, University of Belgrade, Vojvode Stepe 444a, 11010 Belgrade, Serbia. Electronic address:

Glycogen storage disease type Ib (GSD Ib) is an autosomal recessive disorder, caused by a deficiency of ubiquitously expressed SLC37A4 protein. Deficiency of SLC37A4 leads to abnormal storage of glycogen in the liver and kidneys, resulting in long-term complications of renal disease and hepatocellular adenomas, whose mechanisms are poorly understood. Molecular markers of the adaptive responses to the metabolic stress caused by a deficiency of SLC37A4, such as markers related to the endoplasmic reticulum (ER) stress and unfolded protein response (UPR), have not been extensively studied. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S03781119193034
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http://dx.doi.org/10.1016/j.gene.2019.04.002DOI Listing
April 2019
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A new simple method for estimation of allelic frequencies using pooled samples.

Gene 2019 Apr 3;703:13-16. Epub 2019 Apr 3.

Department of Biology, College of Sciences, Shiraz University, Shiraz, Iran. Electronic address:

Today several millions polymorphic sites in human genome are well described. Many investigators are studying the association between these polymorphisms and susceptibility to multifactorial traits. These polymorphisms are also used for studying the population's genetic structures. Read More

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http://dx.doi.org/10.1016/j.gene.2019.04.003DOI Listing

MRAP2 regulates endometrial receptivity and function.

Gene 2019 Apr 3;703:7-12. Epub 2019 Apr 3.

Department of Psychological, Health and Territorial Sciences, School of Medicine and Health Sciences, "G. d'Annunzio" University Chieti-Pescara, Via Dei Vestini 31, 66100 Chieti, Italy; Functional Genetics Unit, Center of Excellence on Aging (Ce.S.I.-MeT), Via Luigi Polacchi 11, 66100 Chieti, Italy. Electronic address:

A successful embryo implantation depends on the synchronization between a competent blastocyst and a receptive endometrium. Recently, potential modulators of endometrial receptivity (OVGP1, MRAP2, ZCCHC12, and HAP1) have been reported likely with a functional role during embryo implantation. The aim of this study was to evaluate the gene expression of these genes in the endometrium of infertile women. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S03781119193034
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http://dx.doi.org/10.1016/j.gene.2019.04.001DOI Listing
April 2019
5 Reads