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Boudour Khabou

Explore the profile of Boudour Khabou including associated specialties, affiliations and a list of published articles. Areas
Snapshot
Articles 15
Citations 28
Followers 0
Related Specialties
Biochemistry
Neurology
Dermatology
Top 10 Co-Authors
Faiza Fakhfakh
Veronique Barbu
Abir Ben Issa
Leila Keskes
Chahnez Triki
Emna Mkaouar-Rebai
Thouraya Kammoun
Olfa Abida
Rahma Felhi
Lamia Gargouri
Published In
Clin Chim Acta
J Hum Genet
Ann Hum Genet
Comput Biol Chem
Biochem Biophys Res Commun
Affiliations
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Recent Articles
1.
First description of novel compound heterozygous mutations in HYCC1: clinical evaluations and molecular analysis in patient with hypomyelinating leukodystrophy-5 with retrospective view
Ben Issa A, Kamoun F, Khabou B, Bouchaala W, Fakhfakh F, Triki C
J Hum Genet . 2024 Oct; 70(2):75-85. PMID: 39468300
Hypomyelinating leukodystrophy-5 (HLD5) is a rare autosomal recessive hypomyelination disorder characterized by congenital cataract, progressive neurologic impairment, and myelin deficiency in the central and peripheral nervous system, caused by mutations...
2.
Characterization of a missense variant in COG5 in a Tunisian patient with COG5-CDG syndrome and insights into the effect of non-synonymous variants on COG5 protein
Khabou B, Sahari U, Ben Issa A, Bouchaala W, Szenker-Ravi E, Ng A, et al.
J Hum Genet . 2024 Jul; 69(11):591-597. PMID: 38987656
The clinical diagnosis of patients with multisystem involvement including a pronounced neurologic damage is challenging. High-throughput sequencing methods remains crucial to provide an accurate diagnosis. In this study, we reported...
3.
Exploring the role of vitamin D-VDR pathway in pemphigus foliaceous: a novel perspective on disease pathogenesis
Tahri S, Elloumi N, Khabou B, Frikha R, Turki H, Mahfoudh N, et al.
Arch Dermatol Res . 2024 Jul; 316(7):449. PMID: 38958777
Several auto-immune diseases have been linked to vitamin D deficiency as a contributing environmental factor. Its pleiotropic effects on the immune system, especially its essential role in maintaining immune tolerance,...
4.
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
Maalej M, Sfaihi L, Fersi O, Khabou B, Ammar M, Felhi R, et al.
Metab Brain Dis . 2024 Feb; 39(4):611-623. PMID: 38363494
Short-chain enoyl-CoA hydratase deficiency (ECHS1D) is a rare congenital metabolic disorder that follows an autosomal recessive inheritance pattern. It is caused by mutations in the ECHS1 gene, which encodes a...
5.
Molecular and computational characterization of ABCB11 and ABCG5 variants in Tunisian patients with neonatal/infantile low-GGT intrahepatic cholestasis: Genetic diagnosis and genotype-phenotype correlation assessment
Khabou B, Kallabi F, Ben Abdelaziz R, Maaloul I, Aloulou H, Ben Chehida A, et al.
Ann Hum Genet . 2023 Dec; 88(3):194-211. PMID: 38108658
Many inherited conditions cause hepatocellular cholestasis in infancy, including progressive familial intrahepatic cholestasis (PFIC), a heterogeneous group of diseases with highly overlapping symptoms. In our study, six unrelated Tunisian infants...
6.
miRNA implication in the pathogenesis and the outcome of Tunisian endemic pemphigus foliaceus
Khabou B, Fakhfakh R, Tahri S, Bahloul E, Hadj Kacem H, Belmabrouk S, et al.
Exp Dermatol . 2023 Apr; 32(7):1132-1142. PMID: 37114366
Pemphigus foliaceus (PF) is a bullous autoimmune skin disease diagnosed through sera and skin analyses. PF severity is associated with maintained anti-Dsg1 sera levels and its prognosis is unpredictable. MicroRNA...
7.
Characterization of a novel ABCC2 mutation in infantile Dubin Johnson syndrome
Khabou B, Hsairi M, Gargouri L, Miled N, Barbu V, Fakhfakh F
Clin Chim Acta . 2021 Mar; 518:43-50. PMID: 33713692
Background And Aims: The Dubin Johnson Syndrome (DJS) occurs mostly in young adults but an early-onset of the disease has been reported in less common forms (Neonatal DJS and Infantile...
8.
A homozygous ABCB4 mutation causing an LPAC syndrome evolves into cholangiocarcinoma
Khabou B, Trigui A, Sellami Boudawara T, Keskes L, Kamoun H, Barbu V, et al.
Clin Chim Acta . 2019 Jun; 495:598-605. PMID: 31181191
Low phospholipid-associated cholelithiasis (LPAC) is characterized by the association of ABCB4 mutations and low biliary phospholipid concentration with symptomatic and recurring cholelithiasis. In the present study, we reported a case...
9.
Clinical, Molecular, and Computational Analysis Showed a Novel Homozygous Mutation Among the Substrate-Binding Site of ARSA Protein in Consanguineous Family with Late-Infantile MLD
Ben Issa A, Kammoun Feki F, Ben Jdila M, Khabou B, Ben Rhouma B, Ammar-Keskes L, et al.
J Mol Neurosci . 2018 Aug; 66(1):17-25. PMID: 30083785
Metachromatic leukodystrophy (MLD) is a neurodegenerative disorder characterized by progressive demyelination resulting from impaired degradation and thus the accumulation of cerebroside-3-sulfate (sulfatide). It is caused by the deficiency of arylsulfatase...
10.
Potential dysfunctional effects of synonymous variants: Insights from an exhaustive in silico analysis of the ABCB4 gene
Khabou B, Tabebi M, Siala-Sahnoun O, Mkaouar-Rebai E, Rebai A, Fakhfakh F
Ann Hum Genet . 2018 Aug; 82(6):457-468. PMID: 30079523
The multiple drug resistance 3 (MDR3) protein is a canalicular phospholipid translocator involved in the bile secretion and encoded by the ABCB4 gene. Its deficiency is related to a large...