Alaa Badreddine
Overview
Explore the profile of Alaa Badreddine including associated specialties, affiliations and a list of published articles.
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Articles
9
Citations
43
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0
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Recent Articles
1.
Meulebrouck S, Merrheim J, Queniat G, Bourouh C, Derhourhi M, Boissel M, et al.
Nat Commun
. 2024 Aug;
15(1):6627.
PMID: 39103322
Functional genetics has identified drug targets for metabolic disorders. Opioid use impacts metabolic homeostasis, although mechanisms remain elusive. Here, we explore the OPRD1 gene (encoding delta opioid receptor, DOP) to...
2.
Oger F, Moreno M, Derhourhi M, Thiroux B, Berberian L, Bourouh C, et al.
iScience
. 2023 Jul;
26(7):107231.
PMID: 37496675
Histone deacetylases enzymes (HDACs) are chromatin modifiers that regulate gene expression through deacetylation of lysine residues within specific histone and non-histone proteins. A cell-specific gene expression pattern defines the identity...
3.
Le Collen L, Delemer B, Poitou C, Vaxillaire M, Toussaint B, Dechaume A, et al.
Genet Med
. 2023 Apr;
25(7):100857.
PMID: 37092539
Purpose: Recessive deficiency of proopiomelanocortin (POMC) causes childhood-onset severe obesity. Cases can now benefit from the melanocortin 4 receptor agonist setmelanotide. Furthermore, a phase 3 clinical trial is evaluating setmelanotide...
4.
Saeed S, Ning L, Badreddine A, Mirza M, Boissel M, Khanam R, et al.
Diabetes
. 2023 Apr;
72(9):1228-1234.
PMID: 37083980
We previously demonstrated that 50% of children with obesity from consanguineous families from Pakistan carry pathogenic variants in known monogenic obesity genes. Here, we have discovered a novel monogenetic recessive...
5.
Folon L, Baron M, Toussaint B, Vaillant E, Boissel M, Scherrer V, et al.
Lancet Diabetes Endocrinol
. 2023 Feb;
11(3):182-190.
PMID: 36822744
Background: Rare biallelic pathogenic mutations in PCSK1 (encoding proprotein convertase subtilisin/kexin type 1 [PC1/3]) cause early-onset obesity associated with various endocrinopathies. Setmelanotide has been approved for carriers of these biallelic...
6.
Le Collen L, Delemer B, Spodenkiewicz M, Cornillet Lefebvre P, Durand E, Vaillant E, et al.
Orphanet J Rare Dis
. 2022 Mar;
17(1):86.
PMID: 35227307
Background: We studied a young woman with atypical diabetes associated with mild intellectual disability, lymphedema distichiasis syndrome (LDS) and polymalformative syndrome including distichiasis. We used different genetic tools to identify...
7.
Corniere N, Thomson R, Thauvin S, Villoutreix B, Karp S, Dynia D, et al.
J Med Genet
. 2022 Feb;
59(11):1035-1043.
PMID: 35115415
Background: Nephrolithiasis (NL) is a complex multifactorial disease affecting up to 10%-20% of the human population and causing a significant burden on public health systems worldwide. It results from a...
8.
Saeed S, Janjua Q, Haseeb A, Khanam R, Durand E, Vaillant E, et al.
Diabetes
. 2022 Jan;
71(4):694-705.
PMID: 35061034
Recent advances in genetic analysis have significantly helped in progressively attenuating the heritability gap of obesity and have brought into focus monogenic variants that disrupt the melanocortin signaling. In a...
9.
Saeed S, Arslan M, Manzoor J, Din S, Janjua Q, Ayesha H, et al.
Diabetes
. 2020 May;
69(7):1424-1438.
PMID: 32349990
Monogenic forms of obesity have been identified in ≤10% of severely obese European patients. However, the overall spectrum of deleterious variants (point mutations and structural variants) responsible for childhood severe...