scholarly journals Studies on Clinical Characteristics, Urovirulence Factor and Host Susceptibility Gene in Pediatric Acute Lobar Nephronia

10.5772/23259 ◽  
2011 ◽  
Author(s):  
Chi-Hui Cheng ◽  
Yong-Kwei Tsau ◽  
Tzou-Yien Li
Keyword(s):  
Clinical Characteristics ◽  
Susceptibility Gene ◽  
Host Susceptibility

scholarly journals Septoria nodorum blotch of wheat

2018 ◽  
Author(s):  
Lucky Mehra ◽  
Urmila Adhikari ◽  
Christina Cowger ◽  
Peter S Ojiambo
Keyword(s):  
Plant Pathogens ◽  
Flag Leaf ◽  
Susceptibility Gene ◽  
Gene Interaction ◽  
Kernel Weight ◽  
Control Measures ◽  
Host Susceptibility ◽  
Septoria Nodorum ◽  
Wheat Varieties ◽  
Septoria Nodorum Blotch

Septoria nodorum blotch occurs in wheat-growing areas worldwide, but the disease is more prevalent in areas with warm and moist weather, such as the southeastern United States, parts of Europe, southern Brazil, and Australia. The disease affects both the quantity and quality of yield, and the pathogen is capable of affecting wheat at both seedling and adult stages. Historically, losses up to 50% have been reported, in addition to lower grain quality, although in the U.S., lower levels of loss are typical. The yield losses are highest when flag leaf, F-1 (leaf below flag leaf), and F-2 (leaf below F-1) are infected. The disease is known to reduce thousand-kernel-weight, a yield parameter. The fungus undergoes regular cycles of sexual recombination due to the availability of both mating types, and creates genetic variation in its population, thus enhancing its potential to overcome control measures. The pathosystem is also a model system for necrotrophic plant pathogens. So far, nine necrotrophic effectors and host susceptibility gene interaction have been identified, which have the potential to be used in marker assisted selection for breeding resistant wheat varieties.

scholarly journals Inherited Variants in BLM and the Risk and Clinical Characteristics of Breast Cancer

Cancers ◽  
2019 ◽  
Vol 11 (10) ◽  
pp. 1548
Author(s):  
Wojciech Kluźniak ◽  
Dominika Wokołorczyk ◽  
Bogna Rusak ◽  
Tomasz Huzarski ◽  
Aniruddh Kashyap ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Clinical Characteristics ◽  
Founder Mutation ◽  
Cancer Susceptibility ◽  
Susceptibility Gene ◽  
Bloom Syndrome ◽  
Breast Cancer Susceptibility Gene ◽  
Cancer Type ◽  
Breast Cancer Patients ◽  
Mutation Carriers

Bloom Syndrome is a rare recessive disease which includes a susceptibility to various cancers. It is caused by homozygous mutations of the BLM gene. To investigate whether heterozygous carriers of a BLM mutation are predisposed to breast cancer, we sequenced BLM in 617 patients from Polish families with a strong family history of breast cancer. We detected a founder mutation (c.1642C>T, p.Gln548Ter) in 3 of the 617 breast cancer patients (0.49%) who were sequenced. Then, we genotyped 14,804 unselected breast cancer cases and 4698 cancer-free women for the founder mutation. It was identified in 82 of 14,804 (0.55%) unselected cases and in 26 of 4698 (0.55%) controls (OR = 1.0; 95%CI 0.6–1.6). Clinical characteristics of breast cancers in the BLM mutation carriers and non-carriers were similar. Loss of the wild-type BLM allele was not detected in cancers from the BLM mutation carriers. No cancer type was more common in the relatives of mutation carriers compared to relatives of non-carriers. The BLM founder mutation p.Gln548Ter, which in a homozygous state is a cause of Bloom syndrome, does not appear to predispose to breast cancer in a heterozygous state. The finding casts doubt on the designation of BLM as an autosomal dominant breast cancer susceptibility gene.

scholarly journals Identification and characterization of GLDC as host susceptibility gene to severe influenza

2018 ◽  
Vol 11 (1) ◽  
Author(s):  
Jie Zhou ◽  
Dong Wang ◽  
Bosco Ho‐Yin Wong ◽  
Cun Li ◽  
Vincent Kwok‐Man Poon ◽  
...  
Keyword(s):  
Susceptibility Gene ◽  
Host Susceptibility ◽  
Severe Influenza ◽  
Identification And Characterization

scholarly journals MON-195 Genetic Analysis and Clinical Characteristics of Hereditary Paraganglioma and Pheochromocytoma Syndrome in Korean Population

2020 ◽  
Vol 4 (Supplement_1) ◽  
Author(s):  
Heewon Choi ◽  
Namki Hong ◽  
Saeam Shin ◽  
Seung Tae Lee ◽  
Jong Rak Choi ◽  
...  
Keyword(s):  
Family History ◽  
Genetic Analysis ◽  
Medical Records ◽  
Clinical Characteristics ◽  
Susceptibility Gene ◽  
Germline Mutations ◽  
Molecular Clusters ◽  
Kinase Signaling ◽  
Exon 2 ◽  
Targeted Ngs

Abstract Pheochromocytoma (PCC) and paragangliomas (PGL), rare neuroendocrine tumor originating from the chromaffin cells together referred as PPGL, are acknowledged to be more than 40% hereditary, related to germline mutations of susceptibility gene. With the advancement of genetic analysis technique, including next-generation sequencing (NGS), there has been attempts to classify PPGL into molecular clusters - Pseudohypoxic, Wnt signaling, and Kinase signaling PPGL. With NGS being applied to clinical setting only recently in Korea, we aimed to review the result of genetic analysis, including NGS, and investigate its association with clinical characteristics in Korean PPGL patients. We reviewed medical records of patients with PPGL in Severance hospital enrolled between January of 2006 to October of 2019. We gathered clinical phenotype by reviewing medical records of the patients who underwent targeted NGS from March of 2017 to October of 2019 using Severance hospital’s endocrine panel or who had known germline mutations of related genes. Family gene analysis was recommended for family members of patients with significant gene mutations. Among 78 patients with PPGL, 58 patients underwent targeted NGS results or had prediagnosed mutations. Thirty-three patients (62.1%) had clinically significant germline mutation. In patients with hereditary PPGL, there were higher likelihood of family history and presence of other tumors. There were significant differences in the type of PPGLs, percentage of family history, metastasis rate and the presence of other tumors among 3 molecular clusters - pseudohypoxic TCA cycle-related, pseudohypoxic VHL/EPAS1-related and kinase-signaling group. Twenty-seven different germline mutations from 11 genes (SDHB, RET, VHL, EPAS1, NF1, KIF1B, MAX, SDHA, SDHC, SDHD, and TMEM127) were found, SDHB mutation being the most common. Four of them were novel mutations; EPAS1 c.1250G>A (p.Gly417Glu), NF1 c.6215delA (p.His2072LeufsTer10), NF1 c.6777del (p.Gly2260fs), and SDHC exon 2-6 duplication. In conclusion, we report the prevalence of germline mutations in Korean PPGL patients, and the rate of hereditary PPGL is estimated to be as high as 62.1%. NGS is a good and accessible tool for genetic analysis in patients with PPGLs, and further research on molecular classification will lead to precision medicine.

scholarly journals Invasive infections due to Streptococcus pyogenes: seasonal variation of severity and clinical characteristics, Iceland, 1975 to 2012

2014 ◽  
Vol 19 (17) ◽  
Author(s):  
L B Olafsdottir ◽  
H Erlendsdóttir ◽  
J Melo-Cristino ◽  
D M Weinberger ◽  
M Ramirez ◽  
...  
Keyword(s):  
Streptococcus Pyogenes ◽  
Clinical Characteristics ◽  
Population Based ◽  
Host Susceptibility ◽  
Population Based Study ◽  
Virulent Strains ◽  
Invasive Infections ◽  
Group A ◽  
Severe Infections

Epidemiology and clinical characteristics of invasive Group A streptococcal infections (IGASI) are highly variable. Long-term studies are needed to understand the interplay between epidemiology and virulence. In a population-based study of IGASI in Iceland from 1975 to 2012, 288 cases were identified by positive cultures from normally sterile body sites. Charts were reviewed retrospectively and emm-types of viable Streptococcus pyogenes isolates (n=226) determined. Comparing the first and last decade of the study period, IGASI incidence increased from 1.09 to 3.96 cases per 100,000 inhabitants per year. The most common were emm types 1 (25%), 28 (11%) and 89 (11%); emm1 strains were most likely to cause severe infections. Infections in adults were significantly more likely to be severe during the seasonal peak from January to April (risk ratio: 2.36, 95% confidence interval: 1.34–4.15). Significant seasonal variability in severity was noted among patients with diagnosis of sepsis, respiratory infection and cellulitis, with 38% of severe infections in January to April compared with 16% in other months (p<0.01). A seasonal increase in severity of IGASI suggested that generalised seasonal increase in host susceptibility, rather than introduction of more virulent strains may play a role in the pathogenesis of these potentially fatal infections.

scholarly journals Septoria nodorum blotch of wheat

2018 ◽  
Author(s):  
Lucky Mehra ◽  
Urmila Adhikari ◽  
Christina Cowger ◽  
Peter S Ojiambo
Keyword(s):  
Plant Pathogens ◽  
Flag Leaf ◽  
Susceptibility Gene ◽  
Gene Interaction ◽  
Kernel Weight ◽  
Control Measures ◽  
Host Susceptibility ◽  
Septoria Nodorum ◽  
Wheat Varieties ◽  
Septoria Nodorum Blotch

Septoria nodorum blotch occurs in wheat-growing areas worldwide, but the disease is more prevalent in areas with warm and moist weather, such as the southeastern United States, parts of Europe, southern Brazil, and Australia. The disease affects both the quantity and quality of yield, and the pathogen is capable of affecting wheat at both seedling and adult stages. Historically, losses up to 50% have been reported, in addition to lower grain quality, although in the U.S., lower levels of loss are typical. The yield losses are highest when flag leaf, F-1 (leaf below flag leaf), and F-2 (leaf below F-1) are infected. The disease is known to reduce thousand-kernel-weight, a yield parameter. The fungus undergoes regular cycles of sexual recombination due to the availability of both mating types, and creates genetic variation in its population, thus enhancing its potential to overcome control measures. The pathosystem is also a model system for necrotrophic plant pathogens. So far, nine necrotrophic effectors and host susceptibility gene interaction have been identified, which have the potential to be used in marker assisted selection for breeding resistant wheat varieties.

scholarly journals A Host Susceptibility Gene, DR1, Facilitates Influenza A Virus Replication by Suppressing Host Innate Immunity and Enhancing Viral RNA Replication

2015 ◽  
Vol 89 (7) ◽  
pp. 3671-3682 ◽  
Author(s):  
Shih-Feng Hsu ◽  
Wen-Chi Su ◽  
King-Song Jeng ◽  
Michael M. C. Lai
Keyword(s):  
Influenza A Virus ◽  
Influenza A ◽  
Susceptibility Gene ◽  
Influenza Virus Infection ◽  
Rna Replication ◽  
Viral Rna ◽  
Host Susceptibility ◽  
Viral Rdrp ◽  
Genome Wide ◽  
A Genome

ABSTRACTInfluenza A virus (IAV) depends on cellular factors to complete its replication cycle; thus, investigation of the factors utilized by IAV may facilitate antiviral drug development. To this end, a cellular transcriptional repressor, DR1, was identified from a genome-wide RNA interference (RNAi) screen. Knockdown (KD) of DR1 resulted in reductions of viral RNA and protein production, demonstrating that DR1 acts as a positive host factor in IAV replication. Genome-wide transcriptomic analysis showed that there was a strong induction of interferon-stimulated gene (ISG) expression after prolonged DR1 KD. We found that beta interferon (IFN-β) was induced by DR1 KD, thereby activating the JAK-STAT pathway to turn on ISG expression, which led to a strong inhibition of IAV replication. This result suggests that DR1 in normal cells suppresses IFN induction, probably to prevent undesired cytokine production, but that this suppression may create a milieu that favors IAV replication once cells are infected. Furthermore, biochemical assays of viral RNA replication showed that DR1 KD suppressed viral RNA replication. We also showed that DR1 associated with all three subunits of the viral RNA-dependent RNA polymerase (RdRp) complex, indicating that DR1 may interact with individual components of the viral RdRp complex to enhance viral RNA replication. Thus, DR1 may be considered a novel host susceptibility gene for IAV replication via a dual mechanism, not only suppressing the host defense to indirectly favor IAV replication but also directly facilitating viral RNA replication.IMPORTANCEInvestigations of virus-host interactions involved in influenza A virus (IAV) replication are important for understanding viral pathogenesis and host defenses, which may manipulate influenza virus infection or prevent the emergence of drug resistance caused by a high error rate during viral RNA replication. For this purpose, a cellular transcriptional repressor, DR1, was identified from a genome-wide RNAi screen as a positive regulator in IAV replication. In the current studies, we showed that DR1 suppressed the gene expression of a large set of host innate immunity genes, which indirectly facilitated IAV replication in the event of IAV infection. Besides this scenario, DR1 also directly enhanced the viral RdRp activity, likely through associating with individual components of the viral RdRp complex. Thus, DR1 represents a novel host susceptibility gene for IAV replication via multiple functions, not only suppressing the host defense but also enhancing viral RNA replication. DR1 may be a potential target for drug development against influenza virus infection.

scholarly journals A triple threat: the Parastagonospora nodorum SnTox267 effector exploits three distinct host genetic factors to cause disease in wheat

2021 ◽  
Author(s):  
Jonathan K Richards ◽  
Gayan Kariyawasam, Gayan ◽  
Sudeshi Seneviratne ◽  
Nathan A Wyatt ◽  
Steven S Xu ◽  
...  
Keyword(s):  
Cell Death ◽  
Fungal Pathogen ◽  
Susceptibility Gene ◽  
Susceptibility Genes ◽  
Effector Proteins ◽  
Protein Isoforms ◽  
Host Susceptibility ◽  
Local Selection ◽  
Parastagonospora Nodorum ◽  
Host Pathways

Parastagonospora nodorum is a fungal pathogen of wheat. As a necrotrophic specialist, it deploys a suite of effector proteins that target dominant host susceptibility genes to elicit programmed cell death (PCD). Nine effector-host susceptibility gene interactions have been reported in this pathosystem, presumed to be governed by unique pathogen effectors. This study presents the characterization of the SnTox267 necrotrophic effector that hijacks two separate host pathways to cause necrosis. An association mapping approach identified SnTox267 and the generation of gene-disrupted mutants and gain-of-function transformants confirmed its role in Snn2-, Snn6-, and Snn7-mediated necrosis. The Snn2 and Snn6 host susceptibility genes were complementary, and together they functioned cooperatively to elicit SnTox267-induced necrosis in the same light-dependent PCD pathway. Additionally, we showed that SnTox267 targeted Snn7, resulting in light-independent necrosis. Therefore, SnTox267 co-opts two distinct host pathways to elicit PCD. SnTox267 sequence comparison among a natural population of 197 North American P. nodorum isolates revealed 20 protein isoforms conferring variable levels of virulence, indicating continuing selection pressure on this gene. Protein isoform prevalence among discrete populations indicated that SnTox267 has likely evolved in response to local selection pressures and has diversified more rapidly in the Upper Midwest. Deletion of SnTox267 resulted in the upregulation of the unrelated effector genes SnToxA, SnTox1, and SnTox3, providing evidence for a complex genetic compensation mechanism. These results illustrate a novel evolutionary path by which a necrotrophic fungal pathogen uses a single proteinaceous effector to hijack two host pathways to induce cell death.  

scholarly journals ArabidopsisHIPP27is a host susceptibility gene for the beet cyst nematodeHeterodera schachtii

2018 ◽  
Vol 19 (8) ◽  
pp. 1917-1928 ◽  
Author(s):  
Zoran S. Radakovic ◽  
Muhammad Shahzad Anjam ◽  
Elizabeth Escobar ◽  
Divykriti Chopra ◽  
Javier Cabrera ◽  
...  
Keyword(s):  
Susceptibility Gene ◽  
Host Susceptibility

scholarly journals The CAR1 Gene Encoding a Cellular Receptor Specific for Subgroup B and D Avian Leukosis Viruses Maps to the Chickentvb Locus

1998 ◽  
Vol 72 (4) ◽  
pp. 3501-3503 ◽  
Author(s):  
Eugene J. Smith ◽  
Jürgen Brojatsch ◽  
John Naughton ◽  
John A. T. Young
Keyword(s):  
Expressed Sequence Tag ◽  
Receptor Gene ◽  
Susceptibility Gene ◽  
Specific Antigen ◽  
Backcross Progeny ◽  
Host Susceptibility ◽  
Cellular Receptor ◽  
Gene Encoding ◽  
Avian Leukosis Viruses ◽  
Car1 Gene

ABSTRACT Host susceptibility to subgroup B, D, and E avian leukosis viruses (ALV) is determined by specific alleles of the chicken tvblocus. Recently, a chicken gene that encodes a cellular receptor, designated CAR1, specific for subgroups B and D ALV was cloned, and it was proposed that this gene was the s3 allele oftvb (J. Brojatsch, J. Naughton, M. M. Rolls, K. Zingler, and J. A. T. Young, Cell 87:845–855, 1996). We now report that in a backcross derived from an F1 (Jungle Fowl × White Leghorn [WL]) male mated with inbred WL females, the cloned ALV receptor gene cosegregated with two markers linked totvb. The two markers used were atvbs1 -specific antigen recognized by the chicken R2 alloantiserum and restriction fragment length polymorphisms associated with the expressed sequence tag com152e. With all three markers, no crossovers were observed among 52 backcross progeny tested and LOD linkage scores of 15.7 were obtained. These data demonstrate that CAR1 is the subgroup B and D ALV susceptibility gene located at tvbs3.

Sign in / Sign up

Export Citation Format

Share Document