Výsledky vyhledávání - "Olfa Alila Fersi"

Akademický článek

The first concurrent detection of mitochondrial DNA m.3243A>G mutation, deletion, and depletion in a family with mitochondrial diabetes

Autor: Mouna Tabebi, Wajdi Safi, Rahma Felhi, Olfa Alila Fersi, Leila Keskes, Mohamed Abid, Mouna Mnif, Faiza Fakhfakh

Publikováno v: Molecular Genetics & Genomic Medicine, Vol 8, Iss 7, Pp n/a-n/a (2020)

Abstract Background Mitochondrial diabetes (MD) is a rare monogenic form of diabetes and divided into type l and type 2. It is characterized by a strong familial clustering of diabetes with the presence of maternal transmission in conjunction with bi

Externí odkaz: https://doaj.org/article/8c8a1057c14b4cd1bd474c4e605bf461

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A novel thymidine phosphorylase mutation in a family with Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE): Molecular docking, dynamic simulation and computational investigations

Autor: Marwa Ammar, Wajdi Safi, Abdelaziz Tlili, Olfa Alila‐Fersi, Fakher Frikha, Jihen Chouchen, Fatma Mnif, Marwa Kharrat, Marwa Maalej, Rahma Felhi, Mohamed Abid, Mouna Mnif‐Feki, Faten Hadj Kacem, Faiza Fakhfakh, Emna Mkaouar‐Rebai

Publikováno v: International Journal of Developmental Neuroscience. 82:626-638

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE; OMIM 603041) is a rare inherited metabolic disorder mostly caused by mutations in TYMP gene encoding thymidine phosphorylase (TP) protein that affects the mitochondrial nucleotide metaboli

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e58d9fb9f57db145e78a91ba53c83985
https://doi.org/10.1002/jdn.10215

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Identification of a novel homozygous mutation in NAXE gene associated with early-onset progressive encephalopathy by whole-exome sequencing: in silico protein structure characterization, molecular docking, and dynamic simulation

Autor: Marwa Maalej, Lamia Sfaihi, Marwa Ammar, Fakher Frikha, Marwa Kharrat, Olfa Alila-Fersi, Emna Mkaouar-Rebai, Abdelaziz Tlili, Thouraya Kammoun, Faiza Fakhfakh

Publikováno v: neurogenetics. 23:257-270

Progressive encephalopathy with brain edema and/or leukoencephalopathy, PEBEL1, is a severe neurometabolic disorder characterized by rapidly progressive neurologic deterioration associated with a febrile illness. PEBEL1 is a lethal encephalopathy cau

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b71fd1f0a0d13dc3b81f8435d52e7da0
https://doi.org/10.1007/s10048-022-00696-3

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Combined in Silico Prediction Methods, Molecular Dynamic Simulation, and Molecular Docking of FOXG1 Missense Mutations: Effect on FoxG1 Structure and Its Interactions with DNA and Bmi-1 Protein

Autor: Marwa Kharrat, Chahnez Charfi Triki, Olfa Alila-Fersi, Olfa Jallouli, Bassem khemakham, Salma Mallouli, Marwa Maalej, Marwa Ammar, Fakher frikha, Fatma Kamoun, Faiza Fakhfakh

Publikováno v: Journal of molecular neuroscience : MN. 72(8)

FoxG1 encoded by FOXG1 gene is a transcriptional factor interacting with the DNA of targeted genes as well as with several proteins to regulate the forebrain development. Mutations in the FOXG1 gene have been shown to cause a wide spectrum of brain d

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0e2056c61332943eaa980d8b641974d2
https://pubmed.ncbi.nlm.nih.gov/35654936

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Mutations in GAA Gene in Tunisian Families with Infantile Onset Pompe Disease: Novel Mutation and Structural Modeling Investigations

Autor: H. Kammoun, Ines Werteni, Hajer Aloulou, Neila Belguith, Mongia Hachicha, Faiza Fakhfakh, Leila Keskes, Olfa Alila-Fersi, Imen Chabchoub, Nadia Mahfoudh

Publikováno v: Journal of Molecular Neuroscience. 70:1100-1109

Pompe disease, a rare, autosomal, recessive, inherited, lysosomal storage disorder, is caused by mutations in the acid α-glucosidase (GAA) gene leading to a deficiency of the lysosomal GAA enzyme. Some GAA mutations eliminate all enzymatic activitie

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::96fd31d25a1c459e7252588dc2129e76
https://doi.org/10.1007/s12031-020-01516-9

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Mitochondrial disease patients with novel ND4 12058A > C and ND1 m.3911A > G variations: implications for a role in the phenotype following a bioinformatic investigation

Autor: Olfa Alila-Fersi, Lamia Sfaihi, Mongia Hachicha, Faiza Fakhfakh, Marwa Ammar, Rahma Felhi, Marwa Maalej, Emna Mkaouar-Rebai

Publikováno v: Molecular Biology Reports.

Mitochondrial diseases include a wide group of clinically heterogeneous disorders caused by a dysfunction of the mitochondrial respiratory chain and can be related to mutations in nuclear or mitochondrial DNA genes. In the present report, we performe

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::cf6bea0f81de38279196c22c17a5803c
https://doi.org/10.1007/s11033-021-06452-4

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Mitochondrial disease patients with novel ND4 12058A C and ND1 m.3911A G variations: implications for a role in the phenotype following a bioinformatic investigation

Autor: Emna, Mkaouar-Rebai, Marwa, Ammar, Lamia, Sfaihi, Olfa, Alila-Fersi, Marwa, Maalej, Rahma, Felhi, Mongia, Hachicha, Faiza, Fakhfakh

Publikováno v: Molecular biology reports. 48(5)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::bd85c36556068676682955bc448fdd9f
https://pubmed.ncbi.nlm.nih.gov/34089464

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The first concurrent detection of mitochondrial DNA m.3243A>G mutation, deletion, and depletion in a family with mitochondrial diabetes

Autor: Olfa Alila Fersi, Rahma Felhi, Leila Keskes, Wajdi Safi, Mohamed Abid, Mouna Tabebi, Mouna Mnif, Faiza Fakhfakh

Publikováno v: Molecular Genetics & Genomic Medicine, Vol 8, Iss 7, Pp n/a-n/a (2020)
Molecular Genetics & Genomic Medicine

Background Mitochondrial diabetes (MD) is a rare monogenic form of diabetes and divided into type l and type 2. It is characterized by a strong familial clustering of diabetes with the presence of maternal transmission in conjunction with bilateral h

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b5a1823f1781fb48af3872691edacacb
https://doi.org/10.1002/mgg3.1292

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First description of a novel mitochondrial mutation in the MT-TI gene associated with multiple mitochondrial DNA deletion and depletion in family with severe dilated mitochondrial cardiomyopathy

Autor: Marwa Maalej, Neila Belguith, Mouna Tabebi, Faiza Fakhfakh, Olfa Alila-Fersi, Emna Mkaouar-Rebai, Leila Keskes

Publikováno v: Biochemical and Biophysical Research Communications. 497:1049-1054

Mitochondria are essential for early cardiac development and impaired mitochondrial function was described associated with heart diseases such as hypertrophic or dilated mitochondrial cardiomyopathy. In this study, we report a family including two in

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f416424279597593cc8c4ede2b67ceac
https://doi.org/10.1016/j.bbrc.2018.02.173

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La première détection simultanée de la mutation 3243A >G, délétion et déplétion au niveau de l’ADN mitochondrial dans une famille atteinte de diabète mitochondrial

Autor: W. Sefi, Rahma Felhi, Mohamed Abid, Mouna Mnif, Olfa Alila-Fersi, Mouna Tabebi, Leila Keskes, F. Fakhfakh

Publikováno v: Annales d'Endocrinologie. 81:257-258

Introduction Le diabete mitochondrial (DM) est une forme monogenique rare de diabete et egalement divise en type l et type 2. Il se caracterise par un fort regroupement familial de diabete avec une presence de transmission maternelle associee a une d

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::86d9c50e0e64e22fa278b2ff5d0932f7
https://doi.org/10.1016/j.ando.2020.07.309

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