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Founder effect confirmation of c.241A>G mutation in the L2HGDH gene and characterization of oxidative stress parameters in six Tunisian families with L-2-hydroxyglutaric aciduria.
- Published in:
- Journal of Human Genetics, 2014, v. 59, n. 4, p. 216, doi. 10.1038/jhg.2014.4
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- Article
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.
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- Neurogenetics, 2022, v. 23, n. 4, p. 257, doi. 10.1007/s10048-022-00696-3
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- Article
Genetic analysis of 106 sporadic cases with hearing loss in the UAE population.
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- Human Genomics, 2024, v. 18, n. 1, p. 1, doi. 10.1186/s40246-024-00630-8
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- Article
Loss-of-function mutations in MYO15A and OTOF cause non-syndromic hearing loss in two Yemeni families.
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- Human Genomics, 2023, v. 17, n. 1, p. 1, doi. 10.1186/s40246-023-00489-1
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- Article
A Novel Autosomal Recessive Non-Syndromic Deafness Locus, DFNB66, Maps to Chromosome 6p21.2-22.3 in a Large Tunisian Consanguineous Family.
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- Human Heredity, 2005, v. 60, n. 3, p. 123, doi. 10.1159/000088974
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- Article
TMC1 but Not TMC2 Is Responsible for Autosomal Recessive Nonsyndromic Hearing Impairment in Tunisian Families.
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- Audiology & Neurotology, 2008, v. 13, n. 4, p. 213, doi. 10.1159/000115430
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- Article
First description of the MEGDEHL syndrome in the Tunisian population via whole-exome sequencing: Novel nonsense mutation in SERAC1 gene.
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- International Journal of Developmental Neuroscience, 2022, v. 82, n. 8, p. 736, doi. 10.1002/jdn.10223
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- Article
A novel thymidine phosphorylase mutation in a family with Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE): Molecular docking, dynamic simulation and computational investigations.
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- International Journal of Developmental Neuroscience, 2022, v. 82, n. 7, p. 626, doi. 10.1002/jdn.10215
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- Article
miR-27a-3p regulates expression of intercellular junctions at the brain endothelium and controls the endothelial barrier permeability.
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- PLoS ONE, 2022, v. 17, n. 1, p. 1, doi. 10.1371/journal.pone.0262152
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- Article
The Segregation of p.Arg68Ter- CLDN14 Mutation in a Syrian Deaf Family, Phenotypic Variations, and Comparative Analysis with the GJB2 Gene.
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- Genes, 2024, v. 15, n. 5, p. 588, doi. 10.3390/genes15050588
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- Article
Genetic Diversity in Casein Gene Cluster in a Dromedary Camel (C. dromedarius) Population from the United Arab Emirates.
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- Genes, 2021, v. 12, n. 9, p. 1417, doi. 10.3390/genes12091417
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- Article
Mapping of a new autosomal recessive nonsyndromic hearing loss locus (DFNB32) to chromosome 1p13.3-22.1.
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- European Journal of Human Genetics, 2003, v. 11, n. 2, p. 185, doi. 10.1038/sj.ejhg.5200934
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- Article
Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans.
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- Nature Genetics, 2008, v. 40, n. 11, p. 1335, doi. 10.1038/ng.245
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- Article
Combinatorial targeting of microRNA-26b and microRNA-101 exerts a synergistic inhibition on cyclooxygenase-2 in brain metastatic triple-negative breast cancer cells.
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- Breast Cancer Research & Treatment, 2021, v. 187, n. 3, p. 695, doi. 10.1007/s10549-021-06255-y
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- Article
Novel mutation in the DSG1 gene causes autosomal‐dominant striate palmoplantar keratoderma in a large Syrian family.
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- Annals of Human Genetics, 2019, v. 83, n. 6, p. 472, doi. 10.1111/ahg.12335
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- Article
Case report: Functional analysis of the p.Arg507Trp variant of the PIGT gene supporting the moderate epilepsy phenotype of mutations in the C-terminal region.
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- Frontiers in Neurology, 2023, v. 14, p. 1, doi. 10.3389/fneur.2023.1092887
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- Article
Whole mitochondrial genome screening in two families with hearing loss: detection of a novel mutation in the 12S rRNA gene.
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- Bioscience Reports, 2010, v. 30, n. 6, p. 405, doi. 10.1042/BSR20090120
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- Article
Genetic etiology of hereditary hearing loss in the Gulf Cooperation Council countries.
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- Human Genetics, 2022, v. 141, n. 3/4, p. 595, doi. 10.1007/s00439-021-02323-x
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- Article
Congenital anomalies of the kidney and urinary tract.
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- Frontiers in Medicine, 2024, p. 1, doi. 10.3389/fmed.2024.1384676
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- Publication type:
- Article
miR-623 Targets Metalloproteinase-1 and Attenuates Extravasation of Brain Metastatic Triple-Negative Breast Cancer Cells.
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- Breast Cancer: Targets & Therapy, 2022, v. 14, p. 187, doi. 10.2147/BCTT.S372083
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- Article
Silencing miR-202-3p increases MMP-1 and promotes a brain invasive phenotype in metastatic breast cancer cells.
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- PLoS ONE, 2020, v. 15, n. 10, p. 1, doi. 10.1371/journal.pone.0239292
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- Article
Clarin-1 gene transfer rescues auditory synaptopathy in model of Usher syndrome.
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- 2018
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- Publication type:
- journal article
A Novel Mutation in the MAP7D3 Gene in Two Siblings with Severe Intellectual Disability and Autistic Traits: Concurrent Assessment of BDNF Functional Polymorphism, X-Inactivation and Oxidative Stress to Explain Disease Severity.
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- Journal of Molecular Neuroscience, 2023, v. 73, n. 9/10, p. 853, doi. 10.1007/s12031-023-02163-6
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- Article
Identification of a novel frameshift mutation in the ILDR1 gene in a UAE family, mutations review and phenotype genotype correlation.
- Published in:
- PLoS ONE, 2017, v. 12, n. 9, p. 1, doi. 10.1371/journal.pone.0185281
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- Publication type:
- Article
Identification of a novel frameshift mutation in the DFNB31/WHRN gene in a Tunisian consanguineous family with hereditary non-syndromic recessive hearing loss.
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- Human Mutation, 2005, v. 25, n. 5, p. 503, doi. 10.1002/humu.9333
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- Article
A Novel Nonsense Mutation (c.414G>A; p.Trp138*) in CLDN14 Causes Hearing Loss in Yemeni Families: A Case Report.
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- Frontiers in Genetics, 2019, v. 10, p. 1, doi. 10.3389/fgene.2019.01087
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- Publication type:
- Article
Molecular and in silico investigation of a novel ECHS1 gene mutation in a consanguine family with short-chain enoyl-CoA hydratase deficiency and Mt-DNA depletion: effect on trimer assembly and catalytic activity.
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- Metabolic Brain Disease, 2024, v. 39, n. 4, p. 611, doi. 10.1007/s11011-024-01343-6
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- Article
A novel homozygous PIGO mutation associated with severe infantile epileptic encephalopathy, profound developmental delay and psychomotor retardation: structural and 3D modelling investigations and genotype–phenotype correlation.
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- Metabolic Brain Disease, 2023, v. 38, n. 8, p. 2665, doi. 10.1007/s11011-023-01276-6
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- Article
Identification of a novel missense mutation in the ALDH7A1 gene in two unrelated Tunisian families with pyridoxine-dependent epilepsy.
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- Molecular Biology Reports, 2013, v. 40, n. 1, p. 487, doi. 10.1007/s11033-012-2084-z
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- Article
CDC14A phosphatase is essential for hearing and male fertility in mouse and human.
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- Human Molecular Genetics, 2018, v. 27, n. 5, p. 780, doi. 10.1093/hmg/ddx440
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- Publication type:
- Article
Loss of miR-101-3p Promotes Transmigration of Metastatic Breast Cancer Cells through the Brain Endothelium by Inducing COX-2/MMP1 Signaling.
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- Pharmaceuticals (14248247), 2020, v. 13, n. 7, p. 144, doi. 10.3390/ph13070144
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- Article