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Article ; Online: microRNAs: An opportunity to overcome significant challenges in malaria detection and control.

Sikka, Ruhi / Bharti, Praveen Kumar / Gupta, Himanshu

Current research in pharmacology and drug discovery

2022 Volume 3, Page(s) 100115

Abstract: Organ damage and pathological disease states lead to the rapid release of microRNAs (miRNAs), a class of endogenous small non-coding RNAs, into the blood circulation. Because secreted miRNAs can be detected in biologic fluids such as plasma, they are ... ...

Abstract	Organ damage and pathological disease states lead to the rapid release of microRNAs (miRNAs), a class of endogenous small non-coding RNAs, into the blood circulation. Because secreted miRNAs can be detected in biologic fluids such as plasma, they are currently being explored as promising non-invasive biomarkers of infectious and non-infectious diseases. Malaria remains a major global health challenge but still the potential of miRNAs has not been explored extensively in the context of malaria compared to other diseases. Here, we highlight important miRNAs found during different phases of the malaria life cycle in the anopheline vector and the human host. We have also put forward our opinion on how malaria parasite-stage-specific miRNAs can be incorporated into new diagnostic and prognostic tools to detect carrier mosquitoes and infected patients. In addition, we have emphasised the potential of miRNAs to be used as new therapeutics to treat severe malaria patients, an unresearched area of malaria control.
Language	English
Publishing date	2022-06-22
Publishing country	Netherlands
Document type	Journal Article
ISSN	2590-2571
ISSN (online)	2590-2571
DOI	10.1016/j.crphar.2022.100115
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Article ; Online: Factors Affecting the Performance of HRP2-Based Malaria Rapid Diagnostic Tests.

Martiáñez-Vendrell, Xavier / Skjefte, Malia / Sikka, Ruhi / Gupta, Himanshu

Tropical medicine and infectious disease

2022 Volume 7, Issue 10

Abstract: The recent COVID-19 pandemic has profoundly impacted global malaria elimination programs, resulting in a sharp increase in malaria morbidity and mortality. To reduce this impact, unmet needs in malaria diagnostics must be addressed while resuming malaria ...

Abstract	The recent COVID-19 pandemic has profoundly impacted global malaria elimination programs, resulting in a sharp increase in malaria morbidity and mortality. To reduce this impact, unmet needs in malaria diagnostics must be addressed while resuming malaria elimination activities. Rapid diagnostic tests (RDTs), the unsung hero in malaria diagnosis, work to eliminate the prevalence of
Language	English
Publishing date	2022-09-25
Publishing country	Switzerland
Document type	Journal Article ; Review
ISSN	2414-6366
ISSN (online)	2414-6366
DOI	10.3390/tropicalmed7100265
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Article ; Online: Genomic profile of diabetic retinopathy in a north indian cohort.

Sikka, Ruhi / Raina, Priyanka / Soni, Rhibhu / Gupta, Himanshu / Bhanwer, A J S

Molecular biology reports

2023 Volume 50, Issue 12, Page(s) 9769–9778

Abstract: Background: Diabetic Retinopathy (DR) is one of the major microvascular complications of diabetes. Being a complex disease, it is important to delineate the genetic and environmental factors that influence the susceptibility to DR in a population. ... ...

Abstract	Background: Diabetic Retinopathy (DR) is one of the major microvascular complications of diabetes. Being a complex disease, it is important to delineate the genetic and environmental factors that influence the susceptibility to DR in a population. Therefore, the present study was designed to investigate the role of genetic and lifestyle risk factors associated with DR susceptibility in a North-Indian population. Methods: A total of 848 subjects were enrolled, comprising of DR cases (n = 414) and healthy controls (n = 434). The Sequenom MassARRAY technology was used to perform target genome analysis of 111 SNPs across 57 candidate genes and 14 intergenic region SNPs that are involved in the metabolic pathways associated with type 2 diabetes (T2D) and DR. Allele, genotype and haplotype frequencies were determined and compared among cases and controls. Logistic regression models were used to determine genotype-phenotype and phenotype-phenotype correlations. Results: The strongest association was observed with TCF7L2 rs12255372 T allele [p < 0.0001; odds ratio (OR) = 1.81 (1.44-2.27)] and rs11196205 C allele [p < 0.0008; OR = 1.62 (1.32-1.99)]. Genotype-phenotype and phenotype-phenotype correlations were found in the present study. Conclusion: Our study provides strong evidence of association between the TCF7L2 variants and DR susceptibility.
MeSH term(s)	Humans ; Diabetes Mellitus, Type 2/genetics ; Diabetes Mellitus, Type 2/complications ; Diabetic Retinopathy/genetics ; Genetic Predisposition to Disease ; Genotype ; Polymorphism, Single Nucleotide/genetics ; Genomics ; Gene Frequency/genetics ; Case-Control Studies
Language	English
Publishing date	2023-09-12
Publishing country	Netherlands
Document type	Journal Article
ZDB-ID	186544-4
ISSN	1573-4978 ; 0301-4851
ISSN (online)	1573-4978
ISSN	0301-4851
DOI	10.1007/s11033-023-08772-z
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Article: Association of eNOS and MCP-1 Genetic Variants with Type 2 Diabetes and Diabetic Nephropathy Susceptibility: A Case–Control and Meta-Analysis Study

Raina, Priyanka / Sikka, Ruhi / Gupta, Himanshu / Matharoo, Kawaljit / Bali, Surinder Kumar / Singh, Virinder / Bhanwer, AJS

Biochemical genetics. 2021 Aug., v. 59, no. 4

2021

Abstract: Type 2 diabetes (T2D) and its secondary complications result from the complex interplay of genetic and environmental factors. To understand the role of these factors on disease susceptibility, the present study was conducted to assess the association of ... ...

Abstract	Type 2 diabetes (T2D) and its secondary complications result from the complex interplay of genetic and environmental factors. To understand the role of these factors on disease susceptibility, the present study was conducted to assess the association of eNOS and MCP-1 variants with T2D and diabetic nephropathy (DN) in two ethnically and geographically different cohorts from North India. A total of 1313 subjects from two cohorts were genotyped for eNOS (rs2070744, rs869109213 and rs1799983) and MCP-1 (rs1024611 and rs3917887) variants. Cohort-I (Punjab) comprised 461 T2D cases (204 T2D with DN and 257 T2D without DN) and 315 healthy controls. Cohort-II (Jammu and Kashmir) included 337 T2D (150 T2D with DN and 187 T2D without DN) and 200 controls. Allele, genotype and haplotype frequencies were compared among the studied participants, and phenotype–genotype interactions were determined. Meta-analysis was performed to investigate the association between the selected variants and disease susceptibility. All three eNOS variants were associated with 1.5–4.0-fold risk of DN in both cohorts. MCP-1 rs1024611 conferred twofold risk towards DN progression in cohort-II, while rs3917887 provided twofold risk for both T2D and DN in both cohorts. eNOS and MCP-1 haplotypes conferred risk for T2D and DN susceptibility. Phenotype–genotype interactions showed significant associations between the studied variants and anthropometric and biochemical parameters. In meta-analysis, all eNOS variants conferred risk towards DN progression, whereas no significant association was observed for MCP-1 rs1024611. We show evidences for an association of eNOS and MCP-1 variants with T2D and DN susceptibility.
Keywords	alleles ; diabetic nephropathy ; disease susceptibility ; genotyping ; haplotypes ; meta-analysis ; noninsulin-dependent diabetes mellitus ; risk ; India
Language	English
Dates of publication	2021-08
Size	p. 966-996.
Publishing place	Springer US
Document type	Article
ZDB-ID	2168-4
ISSN	1573-4927 ; 0006-2928
ISSN (online)	1573-4927
ISSN	0006-2928
DOI	10.1007/s10528-021-10041-2
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Article ; Online: MiRNA-146a-A Key Player in Immunity and Diseases.

Gilyazova, Irina / Asadullina, Dilara / Kagirova, Evelina / Sikka, Ruhi / Mustafin, Artur / Ivanova, Elizaveta / Bakhtiyarova, Ksenia / Gilyazova, Gulshat / Gupta, Saurabh / Khusnutdinova, Elza / Gupta, Himanshu / Pavlov, Valentin

International journal of molecular sciences

2023 Volume 24, Issue 16

Abstract: miRNA-146a, a single-stranded, non-coding RNA molecule, has emerged as a valuable diagnostic and prognostic biomarker for numerous pathological conditions. Its primary function lies in regulating inflammatory processes, haemopoiesis, allergic responses, ... ...

Abstract	miRNA-146a, a single-stranded, non-coding RNA molecule, has emerged as a valuable diagnostic and prognostic biomarker for numerous pathological conditions. Its primary function lies in regulating inflammatory processes, haemopoiesis, allergic responses, and other key aspects of the innate immune system. Several studies have indicated that polymorphisms in miRNA-146a can influence the pathogenesis of various human diseases, including autoimmune disorders and cancer. One of the key mechanisms by which miRNA-146a exerts its effects is by controlling the expression of certain proteins involved in critical pathways. It can modulate the activity of interleukin-1 receptor-associated kinase, IRAK1, IRAK2 adaptor proteins, and tumour necrosis factor (TNF) targeting protein receptor 6, which is a regulator of the TNF signalling pathway. In addition, miRNA-146a affects gene expression through multiple signalling pathways, such as TNF, NF-κB and MEK-1/2, and JNK-1/2. Studies have been carried out to determine the effect of miRNA-146a on cancer pathogenesis, revealing its involvement in the synthesis of stem cells, which contributes to tumourigenesis. In this review, we focus on recent discoveries that highlight the significant role played by miRNA-146a in regulating various defence mechanisms and oncogenesis. The aim of this review article is to systematically examine miRNA-146a's impact on the control of signalling pathways involved in oncopathology, immune system development, and the corresponding response to therapy.
MeSH term(s)	Humans ; Carcinogenesis ; Cell Transformation, Neoplastic ; Adaptor Proteins, Signal Transducing ; Autoimmune Diseases/genetics ; MicroRNAs/genetics
Chemical Substances	Adaptor Proteins, Signal Transducing ; MicroRNAs
Language	English
Publishing date	2023-08-14
Publishing country	Switzerland
Document type	Journal Article ; Review
ZDB-ID	2019364-6
ISSN	1422-0067 ; 1422-0067 ; 1661-6596
ISSN (online)	1422-0067
ISSN	1422-0067 ; 1661-6596
DOI	10.3390/ijms241612767
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Article ; Online: Association of eNOS and MCP-1 Genetic Variants with Type 2 Diabetes and Diabetic Nephropathy Susceptibility: A Case-Control and Meta-Analysis Study.

Raina, Priyanka / Sikka, Ruhi / Gupta, Himanshu / Matharoo, Kawaljit / Bali, Surinder Kumar / Singh, Virinder / Bhanwer, Ajs

Biochemical genetics

2021 Volume 59, Issue 4, Page(s) 966–996

Abstract	Type 2 diabetes (T2D) and its secondary complications result from the complex interplay of genetic and environmental factors. To understand the role of these factors on disease susceptibility, the present study was conducted to assess the association of eNOS and MCP-1 variants with T2D and diabetic nephropathy (DN) in two ethnically and geographically different cohorts from North India. A total of 1313 subjects from two cohorts were genotyped for eNOS (rs2070744, rs869109213 and rs1799983) and MCP-1 (rs1024611 and rs3917887) variants. Cohort-I (Punjab) comprised 461 T2D cases (204 T2D with DN and 257 T2D without DN) and 315 healthy controls. Cohort-II (Jammu and Kashmir) included 337 T2D (150 T2D with DN and 187 T2D without DN) and 200 controls. Allele, genotype and haplotype frequencies were compared among the studied participants, and phenotype-genotype interactions were determined. Meta-analysis was performed to investigate the association between the selected variants and disease susceptibility. All three eNOS variants were associated with 1.5-4.0-fold risk of DN in both cohorts. MCP-1 rs1024611 conferred twofold risk towards DN progression in cohort-II, while rs3917887 provided twofold risk for both T2D and DN in both cohorts. eNOS and MCP-1 haplotypes conferred risk for T2D and DN susceptibility. Phenotype-genotype interactions showed significant associations between the studied variants and anthropometric and biochemical parameters. In meta-analysis, all eNOS variants conferred risk towards DN progression, whereas no significant association was observed for MCP-1 rs1024611. We show evidences for an association of eNOS and MCP-1 variants with T2D and DN susceptibility.
MeSH term(s)	Case-Control Studies ; Chemokine CCL2/genetics ; Cohort Studies ; Diabetes Mellitus, Type 2/genetics ; Diabetic Nephropathies/genetics ; Ethnicity ; Female ; Genetic Predisposition to Disease ; Humans ; India ; Male ; Middle Aged ; Nitric Oxide Synthase Type III/genetics
Chemical Substances	CCL2 protein, human ; Chemokine CCL2 ; NOS3 protein, human (EC 1.14.13.39) ; Nitric Oxide Synthase Type III (EC 1.14.13.39)
Language	English
Publishing date	2021-02-20
Publishing country	United States
Document type	Journal Article ; Meta-Analysis
ZDB-ID	2168-4
ISSN	1573-4927 ; 0006-2928
ISSN (online)	1573-4927
ISSN	0006-2928
DOI	10.1007/s10528-021-10041-2
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Article ; Online: Association of genetic variants in INS (rs689), INSR (rs1799816) and PP1G.G (rs1799999) with type 2 diabetes (T2D): a case-control study in three ethnic groups from North-West India.

Sokhi, Jasmine / Sikka, Ruhi / Raina, Priyanka / Kaur, Ramandeep / Matharoo, Kawaljit / Arora, Punit / Bhanwer, Ajs

Molecular genetics and genomics : MGG

2016 Volume 291, Issue 1, Page(s) 205–216

Abstract: Genetic contributions towards Type 2 diabetes (T2D) have been assessed through association studies across different world populations with inconsistencies. The majority of the T2D susceptibility loci are common across different races or populations but ... ...

Abstract	Genetic contributions towards Type 2 diabetes (T2D) have been assessed through association studies across different world populations with inconsistencies. The majority of the T2D susceptibility loci are common across different races or populations but show ethnicity-specific differences. The pathogenesis of T2D involves genetic variants in the candidate genes. The interactions between the genes involved in insulin signaling and secretory pathways are believed to play an important role in determining an individual's susceptibility towards T2D. Therefore, the present study was initiated to examine the differences, if any, in the contribution of polymorphisms towards T2D susceptibility in the background of different ethnic specifications. The present case-control study included a total of 1216 T2D cases and healthy controls from three ethnic groups (Jat Sikhs, Banias and Brahmins) of North-West India. Polymorphisms were selected on the basis of information available in the literature for INS (rs689), INSR (rs1799816) and PP1G.G (rs1799999) in context to T2D. The genotyping was done using PCR-RFLP method. Statistical analysis was done using SPSS 16.0. The analyses revealed that INS (rs689) polymorphism conferred risk towards T2D susceptibility in all the three ethnic groups whereas INSR (rs1799816) polymorphism conferred risk towards T2D in Brahmins only and PP1G.G (rs1799999) polymorphism indicated T2D risk in Jat Sikhs only. Furthermore, interaction analyses indicated the cumulative role of three genetic variants in modulating T2D susceptibility in the three ethnic groups. In conclusion, our results substantiated the evidences for the role of ethnicity in differential susceptibility to T2D in the background of same genetic variants.
MeSH term(s)	Antigens, CD/genetics ; Case-Control Studies ; Diabetes Mellitus, Type 2/genetics ; Ethnic Groups/genetics ; Female ; Genetic Predisposition to Disease/genetics ; Genotype ; Humans ; India ; Male ; Middle Aged ; Polymorphism, Single Nucleotide/genetics ; Population Groups/genetics ; Receptor, Insulin/genetics ; Risk
Chemical Substances	Antigens, CD ; INSR protein, human (EC 2.7.10.1) ; Receptor, Insulin (EC 2.7.10.1)
Language	English
Publishing date	2016-02
Publishing country	Germany
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2044817-X
ISSN	1617-4623 ; 1617-4615
ISSN (online)	1617-4623
ISSN	1617-4615
DOI	10.1007/s00438-015-1099-2
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Article ; Online: Association of Transforming Growth Factor Beta-1 (TGF-β1) Genetic Variation with Type 2 Diabetes and End Stage Renal Disease in Two Large Population Samples from North India.

Raina, Priyanka / Sikka, Ruhi / Kaur, Ramandeep / Sokhi, Jasmine / Matharoo, Kawaljit / Singh, Virinder / Bhanwer, A J S

Omics : a journal of integrative biology

2015 Volume 19, Issue 5, Page(s) 306–317

Abstract: Geographic and ethnic differences impart an immense influence on the genetic susceptibility to Type 2 diabetes (T2D) and diabetic nephropathy (DN). Transforming growth factor-beta1 (TGF-β1), a ubiquitously expressed pro-fibrotic cytokine plays a pivotal ... ...

Abstract	Geographic and ethnic differences impart an immense influence on the genetic susceptibility to Type 2 diabetes (T2D) and diabetic nephropathy (DN). Transforming growth factor-beta1 (TGF-β1), a ubiquitously expressed pro-fibrotic cytokine plays a pivotal role in mediating the hypertrophic and fibrotic manifestations of DN. The present study is aimed to study the association of TGF-β1 g.869T>C (rs1800470) and g.-509C>T (rs1800469) polymorphism in T2D and end stage renal disease (ESRD) cases from the two geographically and ethnically different populations from North India. A total of 1313 samples comprising 776 samples from Punjab (204 with ESRD, 257 without ESRD, and 315 healthy controls) and 537 samples from Jammu and Kashmir (150 with ESRD, 187 without ESRD, and 200 controls) were genotyped for TGF-β1 (rs1800470 and rs1800469) using ARMS-PCR. The CC genotype of rs1800470 increased ESRD risk by 3.1-4.5-fold in both populations. However, for rs1800469, the TT genotype provided 5.5-fold risk towards ESRD cases from Jammu and Kashmir and no risk for the cases from Punjab. The haplotype C-T conferred nearly a 2-3-fold risk towards T2D and ESRD and diplotype CC-CT conferred a 4-fold risk towards ESRD. Our results conclude that TGF-β1 (rs1800470) may increase the risk of both ESRD and T2D in both populations, but TGF-β1 (rs1800469) provided risk for only ESRD in the population of Jammu and Kashmir. The present study is one of the large sample sized genetic association studies of T2D and ESRD from Indian population and adds to the scholarship on global health omics.
MeSH term(s)	Aged ; Case-Control Studies ; Diabetes Mellitus, Type 2/genetics ; Female ; Genetic Predisposition to Disease/genetics ; Genotype ; Haplotypes/genetics ; Humans ; India ; Kidney Failure, Chronic/genetics ; Linkage Disequilibrium/genetics ; Male ; Middle Aged ; Polymorphism, Single Nucleotide/genetics ; Transforming Growth Factor beta1/genetics
Chemical Substances	Transforming Growth Factor beta1
Language	English
Publishing date	2015-05
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2030312-9
ISSN	1557-8100 ; 1536-2310
ISSN (online)	1557-8100
ISSN	1536-2310
DOI	10.1089/omi.2015.0005
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Article ; Online: TNF-α (g.-308 G > A) and ADIPOQ (g. + 45 T > G) gene polymorphisms in type 2 diabetes and microvascular complications in the region of Punjab (North-West India).

Sikka, Ruhi / Raina, Priyanka / Matharoo, Kawaljit / Bandesh, Khushdeep / Bhatia, Rajan / Chakrabarti, Subhabrata / Bhanwer, A J S

Current eye research

2014 Volume 39, Issue 10, Page(s) 1042–1051

Abstract: Aims: The present study aims to examine the association of tumor necrosis factor-α (TNF-α) g.-308 G > A and adiponectin (ADIPOQ) g. + 45 T > G gene polymorphisms in type 2 diabetes (T2D) and its microvascular complications diabetic retinopathy (DR) and ... ...

Abstract	Aims: The present study aims to examine the association of tumor necrosis factor-α (TNF-α) g.-308 G > A and adiponectin (ADIPOQ) g. + 45 T > G gene polymorphisms in type 2 diabetes (T2D) and its microvascular complications diabetic retinopathy (DR) and diabetic nephropathy (DN). Materials and methods: A total of 672 individuals were analysed from the North-West population of Punjab. Genotyping was accomplished by a combination of allele specific amplification refractory mutation system and restriction digestion for TNF-α g. - 308 G > A and ADIPOQ g. + 45 T > G polymorphisms, respectively. Further, in silico modeling was done to predict secondary structure of mRNA for g. + 45 T > G polymorphism in the ADIPOQ gene by RNA fold. Results: The minor allele frequency observed in the controls for the TNF-α G > A and ADIPOQ T > G polymorphisms were 0.07 and 0.10, respectively. The results show no significant association with TNF-α g. - 308 G > A polymorphism in T2D as well as in any of the microvascular complication. However, the ADIPOQ g. + 45 T > G polymorphism shows significant association in T2D (p = 0.048) and DR (p = 0.001) but in DN patients, no association was observed. Interactive analysis revealed that the two polymorphisms jointly conferred a 1.45-fold risk towards the occurrence of T2D [p = 0.031; OR = 1.45 (1.03-2.05)]. In the secondary structure of mRNA, slight free energy change was observed between the wild ( - 1370.28 kcal/mol) and variant allele (-1369.08 kcal/mol). Conclusions: Our results indicated a higher risk of T2D and DR in the background of ADIPOQ TT genotype. Further, the ADIPOQ g. + 45 T > G and TNF-α g. - 308 G > A polymorphisms jointly give 1.45-fold risk towards T2D.
MeSH term(s)	Adiponectin/genetics ; DNA Mutational Analysis ; Diabetes Mellitus, Type 2/genetics ; Diabetic Nephropathies/genetics ; Diabetic Retinopathy/genetics ; Female ; Gene Frequency ; Genotyping Techniques ; Humans ; India ; Male ; Middle Aged ; Polymerase Chain Reaction ; Polymorphism, Restriction Fragment Length ; Polymorphism, Single Nucleotide ; RNA, Messenger/genetics ; Tumor Necrosis Factor-alpha/genetics
Chemical Substances	ADIPOQ protein, human ; Adiponectin ; RNA, Messenger ; Tumor Necrosis Factor-alpha
Language	English
Publishing date	2014-10
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	82079-9
ISSN	1460-2202 ; 0271-3683
ISSN (online)	1460-2202
ISSN	0271-3683
DOI	10.3109/02713683.2014.892998
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