Zobrazeno 1 - 8 of 8 pro vyhledávání: '"Houda Elloumi-Zghal"'
2
Activation induced cytidine deaminase mutant (AID-His130Pro) from Hyper IgM 2 patient retained mutagenic activity on SHM artificial substrate
Autor: Benoit Arcangioli, Hanen Ouadani, Beya Larguèche, Imen Ben-Mustapha, Hatem Masmoudi, François Rougeon, Houda Elloumi-Zghal, Mohamed-Ridha Barbouche, Tihana Jovanic, Meriem Ben-Ali, Mongia Hachicha, Dahmani M. Fathallah, Sylvie Garcia
Publikováno v: Molecular Immunology
Molecular Immunology, 2016, 79, pp.77-82. ⟨10.1016/j.molimm.2016.09.025⟩
Molecular Immunology, Elsevier, 2016, 79, pp.77-82. ⟨10.1016/j.molimm.2016.09.025⟩
International audience; Activation induced cytidine deaminase (AID) is an essential enzyme for class switch recombination (CSR) and somatic hypermutation (SHM) during secondary immune response. Mutations in the AICDA gene are responsible for Hyper Ig
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::66d198ff026ab2745225baea1a94295f
https://hal-riip.archives-ouvertes.fr/pasteur-01453058
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3
Déficit homozygote en antithrombine de type HBS; à propos d'une famille
Autor: Sonia Abdelhak, K. Dellagi, S. Romani, L. Ben Hassine, S. Guermazi, Houda Elloumi-Zghal, N. Khalfallah
Publikováno v: Pathologie Biologie. 55:256-261
Congenital antithrombin (AT) deficiency is the most thrombotic genetic abnormality of haemostasis. Total quantitative deficits are lethal as early as life intra-uterine. Only homozygous mutations concerning the heparin-binding site are compatible wit
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::10b6f2782115b6052a7b69cf3a736166
https://doi.org/10.1016/j.patbio.2006.10.006
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4
Genetic and mutational heterogeneity of autosomal recessive chronic granulomatous disease in Tunisia
Autor: M. S. Abdelmoula, Jalel Chemli, Sonia Abdelhak, Fethi Mellouli, S. Boukthir, Z. Fitouri, Mohamed Bejaoui, Neji Tebib, K. Bouslama, Houda Elloumi-Zghal, M. K. Dellagi, Mohamed-Ridha Barbouche, S. M’Rad, H. Touiri, R. El Kares
Publikováno v: Journal of Human Genetics. 51:887-895
NADPH oxidase, a multi-subunit protein consisting of cytosolic components and the membrane-bound heterodimer, plays an instrumental role in host defence mechanisms of phagocytes. Genetic deficiency of the enzymatic complex results in an inherited dis
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::51fda1dd19d53769af79745a1c4462a6
https://doi.org/10.1007/s10038-006-0039-8
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5
Étude de l’association entre la rétinopathie diabétique et un polymorphisme du gène de l’aldose réductase dans la population tunisienne
Autor: S. Blousa-Chabchoub, A. Jeddi, S. Ayed, Houda Elloumi-Zghal, Sadok Gaigi, Sonia Abdelhak, Koussay Dellagi, Imen Arfa, S. Chakroun, I. Zghal-Mokni, B. Kaabi, C. Amrouche-Rached, Abdelmajid Abid
Publikováno v: Journal Français d'Ophtalmologie. 28:386-390
Introduction L’aldose reductase est une enzyme cle impliquee dans la voie des polyols. Il a ete suggere qu’elle contribue a la pathogenie des complications microangiopathiques du diabete notamment la retinopathie. Le but de cette etude est de det
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::76d2c1adce13c906f2ad6395baadec9c
https://doi.org/10.1016/s0181-5512(05)81069-1
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6
A 1,100-year-old founder effect mutation in IL12B gene is responsible for Mendelian susceptibility to mycobacterial disease in Tunisian patients
Autor: Mohamed Bejaoui, Lamia Boughammoura, Abdelaziz Harbi, Christine Harmant, J. Bouguila, Jalel Chemli, Najla Mekki, Etienne Patin, Houda Elloumi-Zghal, Mohamed-Ridha Barbouche, Meriem Ben-Ali, Imen Ben-Mustapha
Publikováno v: Immunogenetics
Immunogenetics, 2014, 66 (1), pp.67-71. ⟨10.1007/s00251-013-0739-0⟩
Immunogenetics, Springer Verlag, 2014, 66 (1), pp.67-71. ⟨10.1007/s00251-013-0739-0⟩
International audience; Mendelian susceptibility to mycobacterial disease (MSMD) is a rare disorder predisposing apparently healthy individuals to infections caused by weakly virulent mycobacteria such as bacille Calmette-Guerin (BCG), environmental
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::056cc0d91cc98ebd9faae286a9053bc1
https://hal-riip.archives-ouvertes.fr/pasteur-01061271
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7
Lack of association between the angiotensin-converting enzyme gene (I/D) polymorphism and diabetic nephropathy in Tunisian type 2 diabetic patients
Autor: S. Blousa-Chabchoub, Dhafer Malouche, Slama Hmida, Imen Arfa, Ahmed Rebai, Sonia Nouira, Mohamed Majdi Zorgati, Nissaf Ben Alaya, Imen Mannai, B. Zouari, Abdelmajid Abid, Houda Elloumi-Zghal, Sonia Abdelhak, Mohamed Chiheb Ben Rayana, Slim Ben Ammar
Publikováno v: Journal of the Renin-Angiotensin-Aldosterone System
Journal of the Renin-Angiotensin-Aldosterone System, SAGE Publications (UK and US), 2008, 9 (1), pp.32-36. ⟨10.3317/jraas.2008.002⟩
Journal of the Renin-Angiotensin-Aldosterone System, Vol 9 (2008)
Objective. The aim of the present study was to investigate whether the angiotensin-converting enzyme (ACE) insertion/deletion (I/D) polymorphism is associated with diabetic nephropathy and type 2 diabetes in the Tunisian population.Design. A case-con
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::afa0d6ed17faf9997ba6407acdf8310f
https://pubmed.ncbi.nlm.nih.gov/18404607
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8
Clinical and genetic heterogeneity of inherited autosomal recessive susceptibility to disseminated Mycobacterium bovis bacille calmette-guérin infection
Autor: Koussay Dellagi, Jalel Chemli, Noureddine Snoussi, Abdelaziz Harbi, Houda Elloumi-Zghal, Mohamed-Ridha Barbouche, Sonia Abdelhak, Mohamed Bejaoui
Publikováno v: The Journal of infectious diseases. 185(10)
Five patients from 4 unrelated Tunisian families who presented with disseminated neonatal infection by Mycobacterium bovis bacille Calmette-Guerin strain were investigated. Two unrelated patients had different homozygous interleukin-12 receptor beta1
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7376e3bc4bc9ff44060b8cc1cd2ec957
https://pubmed.ncbi.nlm.nih.gov/11992283
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