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Article: Yellow urticaria revealing overlap syndrome of autoimmune hepatitis and primary biliary cholangitis.

Toujani, Sana / El Ouni, Amira / Mestiri, Souhir / Toujani, Emna / Belhassen, Asma / Meddeb, Zeineb / Bouslama, Kamel

2023 Volume 11, Issue 3, Page(s) e7050

Abstract: Yellow urticaria is a variant of urticaria that is rarely reported in the literature. It usually occurs in the setting of a chronic liver disease and reflects the accumulation of bilirubin in the skin tissues. We report a case of yellow urticaria that ... ...

Abstract	Yellow urticaria is a variant of urticaria that is rarely reported in the literature. It usually occurs in the setting of a chronic liver disease and reflects the accumulation of bilirubin in the skin tissues. We report a case of yellow urticaria that occurred in a 33-year-old female patient suffering from systemic lupus erythematosus and overlap syndrome of autoimmune hepatitis and primary biliary cholangitis revealed by a migratory pruritic yellowish urticarial eruption on the trunk and limbs. Yellow urticaria may be an important clue to previously unknown liver or biliary disease as it generally occurs in the setting of hyperbilirubinemia.
Language	English
Publishing date	2023-03-08
Publishing country	England
Document type	Case Reports
ZDB-ID	2740234-4
ISSN	2050-0904
ISSN	2050-0904
DOI	10.1002/ccr3.7050
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Article: Genetic diversity of the North African population revealed by the typing of SNPs in the DRD2/ANKK1 genomic region

Mestiri, Souhir / Boussetta, Sami / Pakstis, Andrew J / Elkamel, Sarra / Elgaaied, Amel Ben Ammar / Kidd, Kenneth K / Cherni, Lotfi

Elsevier B.V. Gene. 2021 Apr. 20, v. 777

2021

Abstract: The dopamine – related genes, like dopamine D2 receptor (DRD2) gene and ankyrin repeat and kinase domain containing 1 (ANKK1) gene are implicated in neurological functions. Some polymorphisms of the DRD2/ANKK1 locus (TaqIA, TaqIB, TaqID) have been used ... ...

Abstract	The dopamine – related genes, like dopamine D2 receptor (DRD2) gene and ankyrin repeat and kinase domain containing 1 (ANKK1) gene are implicated in neurological functions. Some polymorphisms of the DRD2/ANKK1 locus (TaqIA, TaqIB, TaqID) have been used to study genetic diversity and the evolution of human populations. The present investigation aims to assess the genetic diversity in seven North African populations in order to explore their genetic structure and to compare them to others worldwide populations studied for the same locus.Nine single nucleotide polymorphisms (SNPs) from the DRD2/ANKK1 locus (rs1800497 TaqIA, rs2242592, rs1124492, rs6277, rs6275, rs1079727, rs2002453, rs2234690 and rs1079597 TaqIB) were typed in 366 individuals from seven North African populations: six from Tunisia (Sousse, Smar, Kesra, Kairouan, Mehdia and Kerkennah) and one from Libya.The allelic frequencies of rs2002453 and rs2234690 were higher in the Smar population than in the other North African populations. More, the Smar population showed the lowest average heterozygosity (0.313). The principal component analysis (PCA) showed that the Smar population was clearly separated from others. Furthermore, linkage disequilibrium analysis shown a high linkage disequilibrium in the North African population and essentially in Smar population. Comparison with other world populations has shown that the heterozygosity of North African population was very close to that of the African and European populations. The PCA and the haplotypic analysis suggested the presence of an important Eurasian genetic component for the North African population.These results suggested that the Smar population was isolated from the others North Africans ones by its peculiar genetic structure because of isolation, endogamy and genetic drift. On the other hand, the North African population is characterized by a multi ancestral gene pool from Eurasia and sub-Saharan Africa due to human migration since prehistoric times.
Keywords	dopamine ; dopamine receptors ; evolution ; gene pool ; genes ; genetic drift ; genetic variation ; genomics ; heterozygosity ; humans ; immigration ; linkage disequilibrium ; loci ; principal component analysis ; Eurasia ; Sub-Saharan Africa ; Tunisia
Language	English
Dates of publication	2021-0420
Publishing place	Elsevier B.V.
Document type	Article
Note	NAL-AP-2-clean
ZDB-ID	391792-7
ISSN	1879-0038 ; 0378-1119
ISSN (online)	1879-0038
ISSN	0378-1119
DOI	10.1016/j.gene.2021.145466
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Article ; Online: New Insight into the human genetic diversity in North African populations by genotyping of SNPs in DRD3, CSMD1 and NRG1 genes.

Mestiri, Souhir / Boussetta, Sami / Pakstis, Andrew J / El Kamel, Sarra / Ben Ammar El Gaaied, Amel / Kidd, Kenneth K / Cherni, Lotfi

Molecular genetics & genomic medicine

2022 Volume 10, Issue 3, Page(s) e1871

Abstract: Background: The single nucleotide polymorphisms (SNPs) of the dopamine D3 receptor (DRD3), the CUB and sushi multiple domains 1 (CSMD1) and the neuregulin 1 (NRG1) genes were used to study the genetic diversity and affinity among North African ... ...

Abstract	Background: The single nucleotide polymorphisms (SNPs) of the dopamine D3 receptor (DRD3), the CUB and sushi multiple domains 1 (CSMD1) and the neuregulin 1 (NRG1) genes were used to study the genetic diversity and affinity among North African populations and to examine their genetic relationships in worldwide populations. Methods: The rs3773678, rs3732783 and rs6280 SNPs of the DRD3 gene located on chromosome 3, the rs10108270 SNP of the CSMD1 gene and the rs383632, rs385396 and rs1462906 SNPs of the NRG1 gene located on chromosome 8 were analysed in 366 individuals from seven North African populations (Libya, Kairouan, Mehdia, Sousse, Kesra, Smar and Kerkennah). Results: The low values of F Conclusions: The Kairouan population exhibited a relatively low rate of genetic variability. The North African population has undergone significant gene flow but also evolutionary forces that have made it genetically distinct from other populations.
MeSH term(s)	Blacks ; Genotype ; Haplotypes ; Humans ; Membrane Proteins/genetics ; Neuregulin-1/genetics ; Polymorphism, Single Nucleotide ; Receptors, Dopamine D3/genetics ; Tumor Suppressor Proteins/genetics ; United States
Chemical Substances	CSMD1 protein, human ; DRD3 protein, human ; Membrane Proteins ; NRG1 protein, human ; Neuregulin-1 ; Receptors, Dopamine D3 ; Tumor Suppressor Proteins
Language	English
Publishing date	2022-02-07
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2734884-2
ISSN	2324-9269 ; 2324-9269
ISSN (online)	2324-9269
ISSN	2324-9269
DOI	10.1002/mgg3.1871
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Article ; Online: Association of cytokine Th2 gene polymorphisms with autoimmune thyroid diseases in Tunisian population.

Mestiri, Souhir / Zaaber, Ines / Inoubli, Oumaima / Abid, Nabil / Omrani, Abir / Nejehi, Hana / Marmouch, Hela

International journal of immunogenetics

2020 Volume 47, Issue 3, Page(s) 294–308

Abstract: Autoimmune thyroid diseases (AITD) including Graves' disease (GD) and Hashimoto's thyroiditis (HT) are complex genetic diseases. Th2 cytokines act on the development of AITD. This study was conducted on Tunisian patients with AITD to investigate the ... ...

Abstract	Autoimmune thyroid diseases (AITD) including Graves' disease (GD) and Hashimoto's thyroiditis (HT) are complex genetic diseases. Th2 cytokines act on the development of AITD. This study was conducted on Tunisian patients with AITD to investigate the association of Th2 cytokine gene polymorphisms and haplotype combination with GD or HT risk. A total of 156 controls, 160 patients with HT and 88 patients with GD were genotyped for IL-4 rs2243250, IL-5 rs2069812, IL-6 rs1800796 and IL-13 rs1800925 polymorphisms by PCR-RFLP. The AITD risk was assessed by a logistic regression analysis using the SNP stats statistical program. False-positive report probability (FPRP) was estimated to evaluate significant findings. IL-13 rs1800925 was associated with GD, after adjustment for age and gender, in codominant, dominant and allele genetic models (p = .0072; p = .0018; p = .012, respectively). Significant association of the IL-6 rs1800796C/G genotype with GD was also detected (p = .025). Furthermore, increased risk of HT was still found for IL-13 rs1800925T allele (p = .039, OR = 1.39) and for IL-4 rs2243250T/T genotype both in codominant (p = .033, OR = 2.59) and recessive (p = .011, OR = 2.73) models after adjustment for age and gender. Interestingly, haplotype analysis performed on the IL-4, IL-5 and IL-13 genes revealed a high risk of HT with CTT haplotype (p = .008, OR = 2.12). However, the CCT haplotype is a protective factor (OR = 0.36). Patients carrying the CT haplotype with only one minor allele had a moderate risk of HT (OR = 1.56). The FPRP analysis showed that the association of IL-13 rs1800925 polymorphism with GD and HT and the association of CTT haplotype with HT were noteworthy. In conclusion, the IL-4, IL-5, IL-6 and IL-13 polymorphism may play a role in susceptibility to GD and HT in the Tunisian population. Furthermore, gene-gene interaction between the IL-4, IL-5 and IL-13 significantly increases the risk of AITD. Further studies with larger numbers of individuals are needed to confirm the results.
MeSH term(s)	Adult ; Alleles ; Epistasis, Genetic/genetics ; Female ; Genetic Association Studies ; Genetic Predisposition to Disease ; Genotype ; Graves Disease/genetics ; Graves Disease/pathology ; Haplotypes ; Hashimoto Disease/genetics ; Hashimoto Disease/pathology ; Humans ; Interleukin-13/genetics ; Interleukin-4/genetics ; Interleukin-5/genetics ; Interleukin-6/genetics ; Male ; Middle Aged ; Thyroiditis, Autoimmune/genetics ; Thyroiditis, Autoimmune/pathology
Chemical Substances	Interleukin-13 ; Interleukin-5 ; Interleukin-6 ; Interleukin-4 (207137-56-2)
Language	English
Publishing date	2020-01-03
Publishing country	England
Document type	Journal Article
ZDB-ID	2177883-8
ISSN	1744-313X ; 1744-3121
ISSN (online)	1744-313X
ISSN	1744-3121
DOI	10.1111/iji.12472
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Article ; Online: Genetic diversity of the North African population revealed by the typing of SNPs in the DRD2/ANKK1 genomic region.

Mestiri, Souhir / Boussetta, Sami / Pakstis, Andrew J / Elkamel, Sarra / Elgaaied, Amel Ben Ammar / Kidd, Kenneth K / Cherni, Lotfi

Gene

2021 Volume 777, Page(s) 145466

Abstract: The dopamine - related genes, like dopamine D2 receptor (DRD2) gene and ankyrin repeat and kinase domain containing 1 (ANKK1) gene are implicated in neurological functions. Some polymorphisms of the DRD2/ANKK1 locus (TaqIA, TaqIB, TaqID) have been used ... ...

Abstract	The dopamine - related genes, like dopamine D2 receptor (DRD2) gene and ankyrin repeat and kinase domain containing 1 (ANKK1) gene are implicated in neurological functions. Some polymorphisms of the DRD2/ANKK1 locus (TaqIA, TaqIB, TaqID) have been used to study genetic diversity and the evolution of human populations. The present investigation aims to assess the genetic diversity in seven North African populations in order to explore their genetic structure and to compare them to others worldwide populations studied for the same locus. Nine single nucleotide polymorphisms (SNPs) from the DRD2/ANKK1 locus (rs1800497 TaqIA, rs2242592, rs1124492, rs6277, rs6275, rs1079727, rs2002453, rs2234690 and rs1079597 TaqIB) were typed in 366 individuals from seven North African populations: six from Tunisia (Sousse, Smar, Kesra, Kairouan, Mehdia and Kerkennah) and one from Libya. The allelic frequencies of rs2002453 and rs2234690 were higher in the Smar population than in the other North African populations. More, the Smar population showed the lowest average heterozygosity (0.313). The principal component analysis (PCA) showed that the Smar population was clearly separated from others. Furthermore, linkage disequilibrium analysis shown a high linkage disequilibrium in the North African population and essentially in Smar population. Comparison with other world populations has shown that the heterozygosity of North African population was very close to that of the African and European populations. The PCA and the haplotypic analysis suggested the presence of an important Eurasian genetic component for the North African population. These results suggested that the Smar population was isolated from the others North Africans ones by its peculiar genetic structure because of isolation, endogamy and genetic drift. On the other hand, the North African population is characterized by a multi ancestral gene pool from Eurasia and sub-Saharan Africa due to human migration since prehistoric times.
MeSH term(s)	Adult ; Africa, Northern/ethnology ; African Continental Ancestry Group ; Alleles ; Ethnic Groups/genetics ; Female ; Gene Frequency/genetics ; Genetic Predisposition to Disease/genetics ; Genetic Variation/genetics ; Genomics ; Genotype ; Genotyping Techniques ; Haplotypes/genetics ; Heterozygote ; Human Migration ; Humans ; Linkage Disequilibrium/genetics ; Male ; Middle Aged ; Polymorphism, Single Nucleotide/genetics ; Protein-Serine-Threonine Kinases/genetics ; Receptors, Dopamine D2/genetics
Chemical Substances	DRD2 protein, human ; Receptors, Dopamine D2 ; ANKK1 protein, human (EC 2.7.11.1) ; Protein-Serine-Threonine Kinases (EC 2.7.11.1)
Language	English
Publishing date	2021-01-29
Publishing country	Netherlands
Document type	Journal Article
ZDB-ID	391792-7
ISSN	1879-0038 ; 0378-1119
ISSN (online)	1879-0038
ISSN	0378-1119
DOI	10.1016/j.gene.2021.145466
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Article ; Online: Association of Interleukin-1B and Interleukin-4 Gene Variants with Autoimmune Thyroid Diseases in Tunisian Population.

Zaaber, Ines / Mestiri, Souhir / Hammedi, Hounayda / Marmouch, Hela / Mahjoub, Silvia / Tensaout, Besma Bel Hadj Jrad / Said, Khaled

Immunological investigations

2016 Volume 45, Issue 4, Page(s) 284–297

Abstract: Autoimmune thyroid diseases (AITD) including Graves' disease (GD) and Hashimoto's thyroiditis (HT) are complex genetic diseases. Cytokines IL-1B and IL-4 play a role in the pathogenesis of AITD. This study was conducted on Tunisian patients with GD or HT ...

Abstract	Autoimmune thyroid diseases (AITD) including Graves' disease (GD) and Hashimoto's thyroiditis (HT) are complex genetic diseases. Cytokines IL-1B and IL-4 play a role in the pathogenesis of AITD. This study was conducted on Tunisian patients with GD or HT to investigate the association of IL-1B and IL-4 gene polymorphisms with the risk and the prognosis of AITD. A total of 358 healthy controls and 341 patients with AITDs (249 HT and 92 GD) were genotyped for IL-1B+3953C/T and IL-4 intron 3 VNTR polymorphisms. A significant association was found between IL-1B+3953C/T polymorphism and GD or HT, both in the dominant and additive models. The IL-1B+3953T allele was associated with GD (p = 0.0003, OR = 1.93, CI = 1.34-2.78) and HT (p = 0.009, OR = 1.43, CI = 1.09-1.88). The IL-4 VNTR polymorphism was associated only with HT risk both in additive (p = 0.03, OR = 0.31, CI = 0.11-0.86) and recessive (p = 0.03, OR = 3.04, CI = 1.13-8.17) models. No significant association was found between IL-1B+3953C/T polymorphism and change in the serum concentrations of TSH and FT4 in GD and HT patients. In HT patients, the IL-1B+3953T allele (p = 0.009, OR = 0.42, CI = 0.22-0.83) and the IL-1B+3953T/T genotype (p = 0.03, OR = 0.21, CI = 0.04-1.07) were more frequent in the absence than in the presence of an anti-TPO antibody. The proportion of HT patients with the P1P2 genotype of the IL-4 gene was significantly higher in the absence than in the presence of the anti-TPO antibody (p = 0.04, OR = 0.39, CI = 0.17-0.89). These preliminary results suggest that IL-1B and IL-4 gene polymorphisms may be associated with GD and HT susceptibility and may represent prognostic factors for predicting the severity of HT.
MeSH term(s)	Adult ; Female ; Genetic Association Studies ; Genetic Predisposition to Disease ; Genotype ; Humans ; Interleukin-1beta/genetics ; Interleukin-4/genetics ; Introns/genetics ; Male ; Middle Aged ; Minisatellite Repeats/genetics ; Polymorphism, Genetic ; Risk ; Thyroiditis, Autoimmune/genetics ; Thyrotropin/blood ; Tunisia
Chemical Substances	IL4 protein, human ; Interleukin-1beta ; Interleukin-4 (207137-56-2) ; Thyrotropin (9002-71-5)
Language	English
Publishing date	2016-05
Publishing country	England
Document type	Journal Article
ZDB-ID	632565-8
ISSN	1532-4311 ; 0882-0139
ISSN (online)	1532-4311
ISSN	0882-0139
DOI	10.3109/08820139.2016.1153650
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Zs.A 988: Show issues

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Article ; Online: TNF-alpha and its inhibitors in cancer.

Zidi, Inès / Mestiri, Souhir / Bartegi, Aghleb / Amor, Nidhal Ben

Medical oncology (Northwood, London, England)

2009 Volume 27, Issue 2, Page(s) 185–198

Abstract: Tumor necrosis factor (TNF)-alpha is implicated in the same time in apoptosis and in cell proliferation. TNF-alpha not only acts as pro-inflammatory cytokine conducing to wide spectrum of human diseases including inflammatory diseases, but can also ... ...

Abstract	Tumor necrosis factor (TNF)-alpha is implicated in the same time in apoptosis and in cell proliferation. TNF-alpha not only acts as pro-inflammatory cytokine conducing to wide spectrum of human diseases including inflammatory diseases, but can also induce tumor development. The molecular mechanisms of TNF-alpha functions have been intensively investigated. In this review we covered TNF-alpha, the molecule, its signaling pathway, and its therapeutic functions. We provide a particular insight in its paradoxical role in tumor promotion and in its use as anti-tumor agent. This review considers also the recent findings regarding TNF-alpha inhibitors, their pharmacokinetics, and their pharmacodynamics. Six TNF-alpha inhibitors have been considered here: Infliximab, Adalimumab, Golimumab, CDP870, CDP571, Etanercept, and Thalidomide. We discussed the clinical relevance of their functions in treatment of several diseases such as advanced inflammatory rheumatic and bowel disease, with a focus in cancer treatment. Targeting TNF-alpha by these drugs has many side effects like malignancies development, and the long-term sequels are not very well explored. Their efficacy and their safety were discussed, underscoring the necessity of close patients monitoring and of their caution use.
MeSH term(s)	Animals ; Antineoplastic Agents/antagonists & inhibitors ; Antineoplastic Agents/pharmacology ; Clinical Trials as Topic/methods ; Drug Delivery Systems ; Humans ; Immunosuppressive Agents/therapeutic use ; Neoplasms/drug therapy ; Neoplasms/immunology ; Signal Transduction/immunology ; Tumor Necrosis Factor-alpha/antagonists & inhibitors ; Tumor Necrosis Factor-alpha/physiology
Chemical Substances	Antineoplastic Agents ; Immunosuppressive Agents ; Tumor Necrosis Factor-alpha
Language	English
Publishing date	2009-03-11
Publishing country	United States
Document type	Journal Article ; Review
ZDB-ID	1201189-7
ISSN	1559-131X ; 0736-0118 ; 1357-0560
ISSN (online)	1559-131X
ISSN	0736-0118 ; 1357-0560
DOI	10.1007/s12032-009-9190-3
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Article ; Online: Polymorphisms in TSHR and IL1RN genes and the risk and prognosis of Hashimoto's thyroiditis.

Zaaber, Ines / Mestiri, Souhir / Marmouch, Hela / Mahjoub, Silvia / Abid, Nabil / Hassine, Mohsen / Bel Hadj Jrad-Tensaout, Besma / Said, Khaled

Autoimmunity

2014 Volume 47, Issue 2, Page(s) 113–118

Abstract: Hashimoto's thyroiditis (HT) is a complex genetic autoimmune thyroid disease (AITD). Thyroid-stimulating hormone receptor (TSHR) is considered as candidate gene in AITD. IL1RN gene is involved in the pathogenesis of a number of autoimmune diseases. These ...

Abstract	Hashimoto's thyroiditis (HT) is a complex genetic autoimmune thyroid disease (AITD). Thyroid-stimulating hormone receptor (TSHR) is considered as candidate gene in AITD. IL1RN gene is involved in the pathogenesis of a number of autoimmune diseases. These findings prompted us to investigate the association of TSHR and IL1RN genes polymorphism with the risk and the prognosis of HT in Tunisia. A total of 249 healthy controls and 202 patients with HT were genotyped for TSHR D727E and IL1RN(VNTR) polymorphism. No significant difference was found for D727E polymorphism between HT patients and healthy controls. For IL1RN gene, we found an association between HT and IL1RN(VNTR) polymorphism. The A1A3 genotype was more prevalent in HT patients than in controls. However, the A1A4 genotype was associated with HT as a protective factor. Significant association of the TSHR polymorphism with lower plasma TSH level in HT patients has been detected. We found for the first time an association of IL1RN(VNTR) polymorphism with the production of anti-thyroid peroxidase antibody at the onset of disease. These preliminary results suggest that only the IL1RN(VNTR) polymorphism may be associated with HT susceptibility and that TSHR and IL1RN(VNTR) polymorphisms may represent prognostic factors for predicting the severity of HT.
MeSH term(s)	Adult ; Alleles ; Autoantibodies/genetics ; Autoantibodies/immunology ; Case-Control Studies ; Female ; Genetic Predisposition to Disease ; Genotype ; Hashimoto Disease/diagnosis ; Hashimoto Disease/genetics ; Hashimoto Disease/immunology ; Hashimoto Disease/pathology ; Humans ; Interleukin 1 Receptor Antagonist Protein/genetics ; Interleukin 1 Receptor Antagonist Protein/immunology ; Male ; Middle Aged ; Minisatellite Repeats ; Polymorphism, Genetic ; Prognosis ; Receptors, Thyrotropin/genetics ; Receptors, Thyrotropin/immunology ; Severity of Illness Index ; Thyrotropin/genetics ; Thyrotropin/immunology
Chemical Substances	Autoantibodies ; IL1RN protein, human ; Interleukin 1 Receptor Antagonist Protein ; Receptors, Thyrotropin ; thyroid microsomal antibodies ; Thyrotropin (9002-71-5)
Language	English
Publishing date	2014-03
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	1025450-x
ISSN	1607-842X ; 0891-6934
ISSN (online)	1607-842X
ISSN	0891-6934
DOI	10.3109/08916934.2013.866101
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Zs.A 2777: Show issues

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Article: A functional polymorphism of the tumor necrosis factor receptor-II gene associated with the survival and relapse prediction of breast carcinoma.

Mestiri, Souhir / Bouaouina, Noureddine / Ben Ahmed, Slim / Chouchane, Lotfi

Cytokine

2005 Volume 30, Issue 4, Page(s) 182–187

Abstract: Objective: Recently, we showed the implication of the polymorphism in tumor necrosis factor-alpha (TNF-alpha) gene in the susceptibility and prognosis of breast carcinoma. TNF-alpha acts through its receptors: types I and II. The TNFRII, expressed on ... ...

Abstract	Objective: Recently, we showed the implication of the polymorphism in tumor necrosis factor-alpha (TNF-alpha) gene in the susceptibility and prognosis of breast carcinoma. TNF-alpha acts through its receptors: types I and II. The TNFRII, expressed on the haematopoietic cells, is the high affinity receptor involved in mediating the biological effects of TNF-alpha. We investigated the susceptibility and prognostic implications of the genetic variation in the TNFRII in breast carcinoma. Methods: We used the polymerase chain reaction and restriction enzyme digestion to characterize the variation of the TNFRII gene in 300 unrelated Tunisian patients with breast carcinoma and 200 healthy control subjects. Associations of the genetic marker with the rates of the breast carcinoma-specific overall survival and the disease-free survival were assessed. Results: A significant association was found between TNFRII-196M/R heterozygous genotype and breast carcinoma (OR = 1.61; P = 0.02). This association was more significant in post-menopausal patients (OR = 2.41, P = 0.0001). The 196R-TNFRII allele showed a significant association with increased overall survival and disease-free survival in breast carcinoma patients. Conclusion: Genetic variation in TNFRII may predict the late onset of breast carcinoma, relapse and death for patients with breast carcinoma.
MeSH term(s)	Adult ; Breast Neoplasms/diagnosis ; Breast Neoplasms/genetics ; Breast Neoplasms/mortality ; Breast Neoplasms, Male/diagnosis ; Breast Neoplasms, Male/genetics ; Breast Neoplasms, Male/mortality ; Female ; Humans ; Male ; Middle Aged ; Neoplasm Recurrence, Local/genetics ; Neoplasm Recurrence, Local/mortality ; Polymorphism, Genetic ; Predictive Value of Tests ; Prognosis ; Receptors, Tumor Necrosis Factor, Type II/genetics ; Receptors, Tumor Necrosis Factor, Type II/physiology ; Survival Analysis
Chemical Substances	Receptors, Tumor Necrosis Factor, Type II
Language	English
Publishing date	2005-05-21
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	1018055-2
ISSN	1096-0023 ; 1043-4666
ISSN (online)	1096-0023
ISSN	1043-4666
DOI	10.1016/j.cyto.2005.01.007
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Article: Association of IL-8 (-251)T/A polymorphism with susceptibility to and aggressiveness of nasopharyngeal carcinoma.

Ben Nasr, Hela / Chahed, Karim / Mestiri, Souhir / Bouaouina, Noureddine / Snoussi, Kaouther / Chouchane, Lotfi

Human immunology

2007 Volume 68, Issue 9, Page(s) 761–769

Abstract: Interleukin-8 (IL-8) is an angiogenic chemokine that plays a potent role in both development and progression of many human malignancies including nasopharyngeal carcinoma (NPC). In the present study, we evaluated the susceptibility and prognostic ... ...

Abstract	Interleukin-8 (IL-8) is an angiogenic chemokine that plays a potent role in both development and progression of many human malignancies including nasopharyngeal carcinoma (NPC). In the present study, we evaluated the susceptibility and prognostic implications of the (-251) T/A genetic variation in IL-8 in NPC. We used the allele-specific polymerase chain reaction to characterize the variation of the IL-8 promoter region for 160 unrelated Tunisian patients with NPC and 169 healthy control subjects. There was a significant association between the homozygotes IL-8 (-251) AA genotype and nasopharyngeal carcinoma (OR = 2.46; P = 0.004). The presence of the IL-8 (-251) AA genotype was highly associated with elevated NPC risk for male patients. A significant association was demonstrated between the IL-8 (-251) AA genotype and the aggressive forms of NPC as defined by large tumor size, lymph node metastasis, and advanced stages. Moreover, the presence of the IL-8 (-251) AA genotype indicated a significant association with decreased overall survival. Our findings suggest that the IL-8 promoter polymorphism is associated with increased nasopharyngeal carcinoma risk, particularly in males, as well as disease progress, supporting our hypothesis for IL-8 involvement in NPC pathogenesis.
MeSH term(s)	Adult ; Carcinoma/diagnosis ; Carcinoma/genetics ; Carcinoma/pathology ; Disease Progression ; Female ; Genetic Predisposition to Disease ; Humans ; Interleukin-8/metabolism ; Male ; Nasopharyngeal Neoplasms/diagnosis ; Nasopharyngeal Neoplasms/genetics ; Nasopharyngeal Neoplasms/pathology ; Neoplasm Invasiveness ; Polymorphism, Single Nucleotide ; Prognosis ; Promoter Regions, Genetic ; Risk Factors
Chemical Substances	Interleukin-8
Language	English
Publishing date	2007-09
Publishing country	United States
Document type	Evaluation Studies ; Journal Article
ZDB-ID	801524-7
ISSN	1879-1166 ; 0198-8859
ISSN (online)	1879-1166
ISSN	0198-8859
DOI	10.1016/j.humimm.2007.06.006
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