Further evidence for the role of WNT10A, WNT10B and GREM2 as candidate genes for isolated tooth agenesis

2018 ◽  
Vol 21 (4) ◽  
pp. 258-263 ◽  
Author(s):  
Sonia Magruder ◽  
Emily Carter ◽  
Meredith A. Williams ◽  
Jeryl English ◽  
Sercan Akyalcin ◽  
...  
Keyword(s):  
Candidate Genes ◽  
Tooth Agenesis

scholarly journals The Potential Prognostic Role of Oligosaccharide-Binding Fold-Containing Protein 2A (OBFC2A) in Triple-Negative Breast Cancer

2021 ◽  
Vol 11 ◽  
Author(s):  
Qianxue Wu ◽  
Xin Tang ◽  
Wenming Zhu ◽  
Qing Li ◽  
Xiang Zhang ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Cell Cycle ◽  
Cancer Cells ◽  
Candidate Genes ◽  
Triple Negative Breast Cancer ◽  
Breast Cancer Cells ◽  
Triple Negative ◽  
G1 Phase ◽  
And Migration

BackgroundPatients with triple-negative breast cancer (TNBC) have poor overall survival. The present study aimed to investigate the potential prognostics of TNBC by analyzing breast cancer proteomic and transcriptomic datasets.MethodsCandidate proteins selected from CPTAC (the National Cancer Institute’s Clinical Proteomic Tumor Analysis Consortium) were validated using datasets from METABRIC (Molecular Taxonomy of Breast Cancer International Consortium). Kaplan-Meier analysis and ROC (receiver operating characteristic) curve analysis were performed to explore the prognosis of candidate genes. GO (Gene Ontology) and KEGG (Kyoto Encyclopedia of Genes and Genomes) enrichment analysis were performed on the suspected candidate genes. Single-cell RNA-seq (scRNA-seq) data from GSE118389 were used to analyze the cell clusters in which OBFC2A (Oligosaccharide-Binding Fold-Containing Protein 2A) was mainly distributed. TIMER (Tumor Immune Estimation Resource) was used to verify the correlation between OBFC2A expression and immune infiltration. Clone formation assays and wound healing assays were used to detect the role of OBFC2A expression on the proliferation, invasion, and migration of breast cancer cells. Flow cytometry was used to analyze the effects of silencing OBFC2A on breast cancer cell cycle and apoptosis.ResultsSix candidate proteins were found to be differentially expressed in non-TNBC and TNBC groups from CPTAC. However, only OBFC2A was identified as an independently poor prognostic gene marker in METABRIC (HR=3.658, 1.881-7.114). And OBFC2A was associated with immune functions in breast cancer. Biological functional experiments showed that OBFC2A might promote the proliferation and migration of breast cancer cells. The inhibition of OBFC2A expression blocked the cell cycle in G1 phase and inhibited the transformation from G1 phase to S phase. Finally, downregulation of OBFC2A also increased the total apoptosis rate of cells.ConclusionOn this basis, OBFC2A may be a potential prognostic biomarker for TNBC.

scholarly journals Current knowledge in hypertension genetics: mosaic theory, candidate genes and genome-wide association studies

2020 ◽  
Vol 26 (5) ◽  
pp. 490-500
Author(s):  
A. O. Konradi
Keyword(s):  
Candidate Genes ◽  
High Performance ◽  
New Technologies ◽  
Current Knowledge ◽  
Association Studies ◽  
Genome Wide Association ◽  
Genome Wide Association Studies ◽  
Modern Approach ◽  
Genome Wide

The article reviews monogenic forms of hypertension, data on the role of heredity of essential hypertension and candidate genes, as well as genome-wide association studies. Modern approach for the role of genetics is driven by implementation of new technologies and their productivity. High performance speed of new technologies like genome-wide association studies provide data for better knowledge of genetic markers of hypertension. The major goal nowadays for research is to reveal molecular pathways of blood pressure regulation, which can help to move from populational to individual level of understanding of pathogenesis and treatment targets.

scholarly journals The Role of Candidate Genes in the Etiology of Schizophrenia

1996 ◽  
Vol 2 (6) ◽  
pp. 665-669
Author(s):  
Kieran C. Murphy ◽  
Peter McGuffin
Keyword(s):  
Candidate Genes

scholarly journals Update on Myopia Risk Factors and Microenvironmental Changes

2019 ◽  
Vol 2019 ◽  
pp. 1-9
Author(s):  
Valeria Coviltir ◽  
Miruna Burcel ◽  
Alina Popa Cherecheanu ◽  
Catalina Ionescu ◽  
Dana Dascalescu ◽  
...  
Keyword(s):  
Risk Factors ◽  
Environmental Factors ◽  
Signaling Pathways ◽  
Candidate Genes ◽  
Therapeutic Targets ◽  
Current Evidence ◽  
Complex Genetics ◽  
Recent Advances

The focus of this update is to emphasize the recent advances in the pathogenesis and various molecular key approaches associated with myopia in order to reveal new potential therapeutic targets. We review the current evidence for its complex genetics and evaluate the known or candidate genes and loci. In addition, we discuss recent investigations regarding the role of environmental factors. This paper also covers current research aimed at elucidating the signaling pathways involved in the pathogenesis of myopia.

scholarly journals A Whole Genome Re-Sequencing Based GWA Analysis Reveals Candidate Genes Associated with Ivermectin Resistance in Haemonchus contortus

Genes ◽  
2020 ◽  
Vol 11 (4) ◽  
pp. 367 ◽  
Author(s):  
Sawar Khan ◽  
Ayesha Nisar ◽  
Jianqi Yuan ◽  
Xiaoping Luo ◽  
Xueqin Dou ◽  
...  
Keyword(s):  
Candidate Genes ◽  
Haemonchus Contortus ◽  
Population Genomics ◽  
Small Ruminants ◽  
Track Record ◽  
Genome Wide ◽  
Signatures Of Selection ◽  
Parasitic Worms ◽  
Important Parasite

The most important and broad-spectrum drug used to control the parasitic worms to date is ivermectin (IVM). Resistance against IVM has emerged in parasites, and preserving its efficacy is now becoming a serious issue. The parasitic nematode Haemonchus contortus (Rudolphi, 1803) is economically an important parasite of small ruminants across the globe, which has a successful track record in IVM resistance. There are growing evidences regarding the multigenic nature of IVM resistance, and although some genes have been proposed as candidates of IVM resistance using lower magnification of genome, the genetic basis of IVM resistance still remains poorly resolved. Using the full magnification of genome, we herein applied a population genomics approach to characterize genome-wide signatures of selection among pooled worms from two susceptible and six ivermectin-resistant isolates of H. contortus, and revealed candidate genes under selection in relation to IVM resistance. These candidates also included a previously known IVM-resistance-associated candidate gene HCON_00148840, glc-3. Finally, an RNA-interference-based functional validation assay revealed the HCON_00143950 as IVM-tolerance-associated gene in H. contortus. The possible role of this gene in IVM resistance could be detoxification of xenobiotic in phase I of xenobiotic metabolism. The results of this study further enhance our understanding on the IVM resistance and continue to provide further evidence in favor of multigenic nature of IVM resistance.

scholarly journals Exploitation of a “hockey-puck” phenotype to identify pilus and biofilm regulators in Serratia marcescens through genetic analysis

2016 ◽  
Vol 62 (1) ◽  
pp. 83-93 ◽  
Author(s):  
Robert M.Q. Shanks ◽  
Nicholas A. Stella ◽  
Kimberly M. Brothers ◽  
Denise M. Polaski
Keyword(s):  
Genetic Analysis ◽  
Serratia Marcescens ◽  
Candidate Genes ◽  
Biofilm Formation ◽  
Type I ◽  
Relative Importance ◽  
Gene Encoding ◽  
Uncharacterized Gene ◽  
Mutation Screen

Pili are essential adhesive determinants for many bacterial pathogens. A suppressor mutation screen that takes advantage of a pilus-mediated self-aggregative “hockey-puck” colony phenotype was designed to identify novel regulators of type I pili in Serratia marcescens. Mutations that decreased pilus biosynthesis mapped to the fimABCD operon; to the genes alaT, fkpA, and oxyR; upstream of the flagellar master regulator operon flhDC; and to an uncharacterized gene encoding a predicted DUF1401 domain. Biofilm formation and pilus-dependent agglutination assays were used to characterize the relative importance of the identified genes in pilus biosynthesis. Additional mutagenic or complementation analysis was used to verify the role of candidate genes in pilus biosynthesis. Presented data support a model that CRP negatively regulates pilus biosynthesis through increased expression of flhDC and decreased expression of oxyR. Further studies are warranted to determine the mechanism by which these genes mediate pilus biosynthesis or function.

The molecular basis of non-syndromic orofacial clefts and tooth agenesis

2018 ◽  
Vol 86 (4) ◽  
pp. 321
Author(s):  
Agnieszka Danuta Gaczkowska ◽  
Paweł Piotr Jagodziński ◽  
Adrianna Mostowska
Keyword(s):  
Genetic Factors ◽  
Tooth Agenesis ◽  
Chromosomal Locus ◽  
Orofacial Clefts ◽  
Factors Influencing ◽  
Polymorphic Variants ◽  
Methodological Approaches ◽  
Genetic And Environmental Factors ◽  
European Populations

Non-syndromic orofacial clefts and tooth agenesis are two of the most common craniofacial birth defects. Both of them have a complex etiology, with genetic and environmental factors involved. Additionally, the epigenetic modifications have been implicated in the pathogenesis of these structural malformations. Despite an increasing number of research studies, using a variety of methodological approaches, the role of genetic factors in the etiology of orofacial clefts and tooth agenesis is still not well elucidated. The most consistent findings across studies concerning the genetic factors influencing the risk to orofacial clefts include the association of polymorphic variants of the IRF6 gene and the chromosomal locus 8q24.21. The major candidate gene for tooth agenesis in the European populations is WNT10A; its pathogenic mutations are present in more than 50% of patients with this dental anomaly. It has been found that both orofacial clefts and tooth agenesis, which co-occurrence is often reported, may share common candidate genes.

scholarly journals Identification of Multiple Gene Mutations Accounts for a new Genetic Architecture of Primary Ovarian Insufficiency

2016 ◽  
Vol 101 (12) ◽  
pp. 4541-4550 ◽  
Author(s):  
Justine Bouilly ◽  
Isabelle Beau ◽  
Sara Barraud ◽  
Valérie Bernard ◽  
Kemal Azibi ◽  
...  
Keyword(s):  
Candidate Genes ◽  
Gene Mutations ◽  
Primary Ovarian Insufficiency ◽  
Potential Candidate ◽  
Missense Mutations ◽  
Ovarian Insufficiency ◽  
Monogenic Disorder ◽  
Gene Encoding ◽  
Multiple Loci

Context: Idiopathic primary ovarian insufficiency (POI) is a major cause of amenorrhea and infertility. POI affects 1% of women before age 40 years, and several genetic causes have been reported. To date, POI has been considered a monogenic disorder. Objective: The aim of this study was to identify novel gene variations and to investigate if individuals with POI harbor mutation in multiple loci. Patients and Methods: One hundred well-phenotyped POI patients were systematically screened for variants in 19 known POI loci (and potential candidate genes) using next-generation sequencing. Results: At least one rare protein-altering gene variant was identified in 19 patients, including missense mutations in new candidate genes, namely SMC1β and REC8 (involved in the cohesin complex) and LHX8, a gene encoding a transcription factor. Novel or recurrent deleterious mutations were also detected in the known POI candidate genes NOBOX, FOXL2, SOHLH1, FIGLA, GDF9, BMP15, and GALT. Seven patients harbor mutations in two loci, and this digenicity seems to influence the age of symptom onset. Conclusions: Genetic anomalies in women with POI are more frequent than previously believed. Digenic findings in several cases suggest that POI is not a purely monogenic disorder and points to a role of digenicity. The genotype-phenotype correlations in some kindreds suggest that a synergistic effect of several mutations may underlie the POI phenotype.

scholarly journals Genetic analysis reveals candidate genes for activity QTL in the blind Mexican tetra,Astyanax mexicanus

PeerJ ◽  
2018 ◽  
Vol 6 ◽  
pp. e5189 ◽  
Author(s):  
Brian M. Carlson ◽  
Ian B. Klingler ◽  
Bradley J. Meyer ◽  
Joshua B. Gross
Keyword(s):  
Candidate Genes ◽  
Genetic Basis ◽  
Activity Patterns ◽  
Potential Candidate ◽  
Behavioral Phenotypes ◽  
Astyanax Mexicanus ◽  
Broad Array ◽  
Patterns Of Behavior ◽  
Surface Dwelling

Animal models provide useful tools for exploring the genetic basis of morphological, physiological and behavioral phenotypes. Cave-adapted species are particularly powerful models for a broad array of phenotypic changes with evolutionary, developmental and clinical relevance. Here, we explored the genetic underpinnings of previously characterized differences in locomotor activity patterns between the surface-dwelling and Pachón cave-dwelling populations ofAstyanax mexicanus.We identified multiple novel QTL underlying patterns in overall levels of activity (velocity), as well as spatial tank use (time spent near the top or bottom of the tank). Further, we demonstrated that different regions of the genome mediate distinct patterns in velocity and tank usage. We interrogated eight genomic intervals underlying these activity QTL distributed across six linkage groups. In addition, we employed transcriptomic data and draft genomic resources to generate and evaluate a list of 36 potential candidate genes. Interestingly, our data support the candidacy of a number of genes, but do not suggest that differences in the patterns of behavior observed here are the result of alterations to certain candidate genes described in other species (e.g., teleost multiple tissue opsins, melanopsins or members of the core circadian clockwork). This study expands our knowledge of the genetic architecture underlying activity differences in surface and cavefish. Future studies will help define the role of specific genes in shaping complex behavioral phenotypes inAstyanaxand other vertebrate taxa.

scholarly journals MULTIFACTORIAL PATHOGENESIS OF OSTEOPOROSIS AND THE ROLE OF GENES OF CANONICAL WNT-SIGNALING PATHWAY

2015 ◽  
Vol 18 (2) ◽  
pp. 15-19
Author(s):  
E A Mailyan
Keyword(s):  
Genetic Analysis ◽  
Wnt Signaling ◽  
Candidate Genes ◽  
Signaling Pathway ◽  
Wnt Signaling Pathway ◽  
Scientific Research ◽  
Canonical Wnt Signaling ◽  
Canonical Wnt ◽  
Skeleton Formation

Nowadays, multifactorial nature of osteoporosis does not raise any doubts. Besides, it should be noted that about 90% disease cases are determined genetically. In 1990-s a number of candidate genes mutations were established which increase the risk of osteoporosis development. VDR, ESR1, ESR2, COLIA1, PTH, CT, CTR, BGP, AR, GCCR, TGFB1, IL-6, IGF1, IL-1ra, OPG were considered to be this kind of genes. New genetic analysis technologies (GWAS, etc.) gave the opportunity to expand our conception about multi genomic pathogenesis of osteoporosis and to point out a new group of genes candidate - a canonical Wnt-signaling pathway genes (CTNNB1, SOST, FOXC2, FOXL1, LRP4, LRP5, WNT1, WNT3, WNT16, DKK1, AXIN1, JAG1, etc.). Extreme importance of canonical Wnt-signaling pathway and genes given above in skeleton formation and its strength necessitate the need for further scientific research and opens perspective to improve osteoporosis diagnostics, treatment and prognosis.

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