Zobrazeno 1 - 10
of 75
pro vyhledávání: '"Abdelaziz Tlili"'
Publikováno v:
Human Genomics, Vol 18, Iss 1, Pp 1-8 (2024)
Abstract Background Hereditary hearing loss is a rare hereditary condition that has a significant presence in consanguineous populations. Despite its prevalence, hearing loss is marked by substantial genetic diversity, which poses challenges for diag
Externí odkaz:
https://doaj.org/article/1adedb2d241c4ba9ada51a0ba58d2f50
Publikováno v:
Frontiers in Medicine, Vol 11 (2024)
Congenital Anomalies of the Kidney and Urinary Tract (CAKUT) refer to a range of conditions that affect the kidney and urinary tract. These anomalies can be severe, such as kidney agenesis, or milder, such as vesicoureteral reflux. CAKUT affects over
Externí odkaz:
https://doaj.org/article/27a1f8e76cae4321bab15b361e020252
Publikováno v:
Human Genomics, Vol 17, Iss 1, Pp 1-10 (2023)
Abstract Background Hearing loss is a rare hereditary deficit that is rather common among consanguineous populations. Autosomal recessive non-syndromic hearing loss is the predominant form of hearing loss worldwide. Although prevalent, hearing loss i
Externí odkaz:
https://doaj.org/article/9844d87463d34aa580257b0829e3ac7c
Autor:
Ikhlas Ben Ayed, Olfa Jallouli, Yoshiko Murakami, Amal Souissi, Salma Mallouli, Amal Bouzid, Fatma Kamoun, Ines Elloumi, Fakher Frikha, Abdelaziz Tlili, Sarah Weckhuysen, Taroh Kinoshita, Chahnez Charfi Triki, Saber Masmoudi
Publikováno v:
Frontiers in Neurology, Vol 14 (2023)
Pathogenic germline variants in the PIGT gene are associated with the “multiple congenital anomalies–hypotonia-seizures syndrome 3” (MCAHS3) phenotype. So far, fifty patients have been reported, most of whom suffer from intractable epilepsy. Re
Externí odkaz:
https://doaj.org/article/b81bd57e58bf4419a6550dcb1a914289
Autor:
Amal Souissi, Mariem Ben Said, Ikhlas Ben Ayed, Ines Elloumi, Amal Bouzid, Mohamed Ali Mosrati, Mehdi Hasnaoui, Malek Belcadhi, Nabil Idriss, Hassen Kamoun, Nourhene Gharbi, Abdullah A. Gibriel, Abdelaziz Tlili, Saber Masmoudi
Publikováno v:
Journal of Advanced Research, Vol 31, Iss , Pp 13-24 (2021)
Introduction: Hearing impairment (HI) is characterized by complex genetic heterogeneity. The evolution of next generation sequencing, including targeted enrichment panels, has revolutionized HI diagnosis. Objectives: In this study, we investigated ge
Externí odkaz:
https://doaj.org/article/d83cd2772882444aaeaa06063629e58a
Publikováno v:
PLoS ONE, Vol 17, Iss 1, p e0262152 (2022)
BackgroundThe brain endothelial barrier permeability is governed by tight and adherens junction protein complexes that restrict paracellular permeability at the blood-brain barrier (BBB). Dysfunction of the inter-endothelial junctions has been implic
Externí odkaz:
https://doaj.org/article/5a56cfac5183499fa62a3123861f8a01
Autor:
Mounir Gaidi, Kais Daoudi, Abdelaziz Tlili, Soumya Columbus, Joël Leblanc-Lavoie, Krithikadevi Ramachandran, Bashir Suleiman, A.N. Alhazaa, M.A. El Khakani
Publikováno v:
Sensing and Bio-Sensing Research, Vol 32, Iss , Pp 100406- (2021)
In this work we present a fast and label-free technique for biomolecules detection. The approach has been proved to be powerful to investigate small DNA mutation. Surface enhanced Raman spectroscopy (SERS) is an outstanding technique for DNA analyses
Externí odkaz:
https://doaj.org/article/b0c72a5ba4c24e7194f57189edfe8302
Publikováno v:
PLoS ONE, Vol 15, Iss 10, p e0239292 (2020)
BackgroundBrain metastasis (BM) is a major cause of morbidity and mortality in breast cancer (BC) and its molecular mechanism remains poorly understood. Transmigration of metastatic cells through the brain endothelium is an essential step in BM. Meta
Externí odkaz:
https://doaj.org/article/931eced77fe5407081e67992f78fe947
Autor:
Walaa Kamal Eldin Mohamed, Mona Mahfood, Abdullah Al Mutery, Sallam Hasan Abdallah, Abdelaziz Tlili
Publikováno v:
Frontiers in Genetics, Vol 10 (2019)
Non-syndromic hearing loss (NSHL) is a hereditary disorder that affects many populations. Many genes are involved in NSHL and the mutational load of these genes often differs among ethnic groups. Claudin-14 (CLDN14), a tight junction protein, is know
Externí odkaz:
https://doaj.org/article/c29f55874d0a4cdaa3ab98529bd96dab
Publikováno v:
Pharmaceuticals, Vol 13, Iss 7, p 144 (2020)
Brain metastases represent one of the incurable end stages in breast cancer (BC). Developing effective or preventive treatments is hampered by a lack of knowledge on the molecular mechanisms driving brain metastasis. Transmigration of BC cells throug
Externí odkaz:
https://doaj.org/article/505778ec9b824060b316f61376d203f6