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Year Number of Results
2003 1
2006 1
2009 2
2011 5
2012 2
2013 3
2014 3
2015 7
2016 5
2017 5
2018 5
2019 4
2020 4
2021 7
2022 7
2023 2
2024 4

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59 results

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Page 1
A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort.
Megarbane A, Bizzari S, Deepthi A, Sabbagh S, Mansour H, Chouery E, Hmaimess G, Jabbour R, Mehawej C, Alame S, Hani A, Hasbini D, Ghanem I, Koussa S, Al-Ali MT, Obeid M, Talea DB, Lefranc G, Lévy N, Leturcq F, El Hayek S, Delague V, Urtizberea JA. Megarbane A, et al. J Neuromuscul Dis. 2022;9(1):193-210. doi: 10.3233/JND-210652. J Neuromuscul Dis. 2022. PMID: 34602496 Free PMC article.
RESULTS: A total of 506 patients were diagnosed with 62 different disorders encompassing 10 classes of NMDs. 103 variants in 49 genes were identified. In this cohort, 81.4% of patients were diagnosed with motor neuron diseases and muscular dystrophies, with almost h …
RESULTS: A total of 506 patients were diagnosed with 62 different disorders encompassing 10 classes of NMDs. 103 variants in 49 genes …
MTP deficiency caused by HADHB mutations: Pathophysiology and clinical manifestations.
Dagher R, Massie R, Gentil BJ. Dagher R, et al. Mol Genet Metab. 2021 May;133(1):1-7. doi: 10.1016/j.ymgme.2021.03.010. Epub 2021 Mar 13. Mol Genet Metab. 2021. PMID: 33744096 Review.
Mutations in the HADHB gene lead to Mitochondrial Trifunctional Protein (MTP) deficiency. ...This review aims to discuss the pathophysiological mechanisms and clinical manifestations of each phenotype, which appears different and linked to HADHB expression le …
Mutations in the HADHB gene lead to Mitochondrial Trifunctional Protein (MTP) deficiency. ...This review aims to discuss the p …
HADHA and HADHB gene associated phenotypes - Identification of rare variants in a patient cohort by Next Generation Sequencing.
Diebold I, Schön U, Horvath R, Schwartz O, Holinski-Feder E, Kölbel H, Abicht A. Diebold I, et al. Mol Cell Probes. 2019 Apr;44:14-20. doi: 10.1016/j.mcp.2019.01.003. Epub 2019 Jan 22. Mol Cell Probes. 2019. PMID: 30682426
The heterooctameric mitochondrial trifunctional protein (MTP), composed of four alpha- and beta-subunits harbours three enzymes that each perform a different function in mitochondrial fatty acid beta-oxidation. Pathogenic variants in the MTP genes (HADHA and HADHB) …
The heterooctameric mitochondrial trifunctional protein (MTP), composed of four alpha- and beta-subunits harbours three enzymes that each pe …
Identification of ACAA1 and HADHB as potential prognostic biomarkers based on a novel fatty acid oxidation-related gene model in head and neck squamous cell carcinoma: A retrospective study.
Wang WL, Jiang HJ, Shen ZL, Tang YL, Jiang J, Liang XH. Wang WL, et al. Arch Oral Biol. 2024 Jul;163:105982. doi: 10.1016/j.archoralbio.2024.105982. Epub 2024 Apr 24. Arch Oral Biol. 2024. PMID: 38678878
RESULTS: The model, which comprised 13 genes (ABCD2, ACAA1, ACACB, AKT1, CNR1, CPT1C, CROT, ECHDC2, ETFA, HADHB, IRS2, LONP2, and SLC25A17), was established. ...CONCLUSIONS: The gene prognostic model has illustrated promising capability in predicting the prog …
RESULTS: The model, which comprised 13 genes (ABCD2, ACAA1, ACACB, AKT1, CNR1, CPT1C, CROT, ECHDC2, ETFA, HADHB, IRS2, LONP2, …
Integrated analyses of multi-omics reveal global patterns of methylation and hydroxymethylation and screen the tumor suppressive roles of HADHB in colorectal cancer.
Zhu Y, Lu H, Zhang D, Li M, Sun X, Wan L, Yu D, Tian Y, Jin H, Lin A, Gao F, Lai M. Zhu Y, et al. Clin Epigenetics. 2018 Mar 2;10:30. doi: 10.1186/s13148-018-0458-3. eCollection 2018. Clin Epigenetics. 2018. PMID: 29507648 Free PMC article.
Furthermore, hypermethylation of the HADHB gene was persistently found to be correlated with downregulation of its transcription in colorectal cancer (CRC). These findings were confirmed in other patients of colorectal cancer. Tumor functional analysis indicated tha …
Furthermore, hypermethylation of the HADHB gene was persistently found to be correlated with downregulation of its transcripti …
Identification and functional characterization of mutations within HADHB associated with mitochondrial trifunctional protein deficiency.
Liu ZR, Dong HL, Ma Y, Wu ZY. Liu ZR, et al. Mitochondrion. 2019 Nov;49:200-205. doi: 10.1016/j.mito.2019.09.004. Epub 2019 Sep 12. Mitochondrion. 2019. PMID: 31521624
To date, only one Chinese patient harboring homozygous c. 739C>T (p.R247C) in HADHB has been reported. Here, using whole exome sequencing (WES), we identified a compound heterozygote of c.407T>C (p.M136T) and c.421G>A (p.A141T) within HADHB in a Chinese MTP …
To date, only one Chinese patient harboring homozygous c. 739C>T (p.R247C) in HADHB has been reported. Here, using whole exome seq …
Identification of a Novel HADHB Gene Mutation in an Iranian Patient with Mitochondrial Trifunctional Protein Deficiency.
Shahrokhi M, Shafiei M, Galehdari H, Shariati G. Shahrokhi M, et al. Arch Iran Med. 2017 Jan;20(1):22-27. Arch Iran Med. 2017. PMID: 28112527
After isolation of DNA and Amplification of all exons of the HADHA and HADHB, directly Sequence analyses of all exons and the flanking introns both of genes were performed. RESULTS: Here, we report a novel mutation in a patient with MTP deficiency diagnosed with new …
After isolation of DNA and Amplification of all exons of the HADHA and HADHB, directly Sequence analyses of all exons and the flankin …
Genetic Basis of Severe Childhood-Onset Cardiomyopathies.
Vasilescu C, Ojala TH, Brilhante V, Ojanen S, Hinterding HM, Palin E, Alastalo TP, Koskenvuo J, Hiippala A, Jokinen E, Jahnukainen T, Lohi J, Pihkala J, Tyni TA, Carroll CJ, Suomalainen A. Vasilescu C, et al. J Am Coll Cardiol. 2018 Nov 6;72(19):2324-2338. doi: 10.1016/j.jacc.2018.08.2171. J Am Coll Cardiol. 2018. PMID: 30384889 Free article.
The authors report NRAP underlying childhood dilated cardiomyopathy, as well as novel phenotypes for known heart disease genes. Some genetic diagnoses have immediate implications for treatment: CALM1 with life-threatening arrhythmias, and TAZ with good cardiac progn …
The authors report NRAP underlying childhood dilated cardiomyopathy, as well as novel phenotypes for known heart disease genes …
MicroRNAs in metabolism and metabolic diseases.
Rottiers V, Najafi-Shoushtari SH, Kristo F, Gurumurthy S, Zhong L, Li Y, Cohen DE, Gerszten RE, Bardeesy N, Mostoslavsky R, Näär AM. Rottiers V, et al. Cold Spring Harb Symp Quant Biol. 2011;76:225-33. doi: 10.1101/sqb.2011.76.011049. Epub 2011 Dec 12. Cold Spring Harb Symp Quant Biol. 2011. PMID: 22156303 Free PMC article.
Aberrant cholesterol/lipid homeostasis is linked to a number of diseases prevalent in the developed world, including metabolic syndrome, type II diabetes, and cardiovascular disease. ...Intriguingly, we recently discovered conserved microRNAs (miR-33a/b) embedded wi …
Aberrant cholesterol/lipid homeostasis is linked to a number of diseases prevalent in the developed world, including metabolic syndro …
Neuron-specific knockdown of Drosophila HADHB induces a shortened lifespan, deficient locomotive ability, abnormal motor neuron terminal morphology and learning disability.
Li J, Suda K, Ueoka I, Tanaka R, Yoshida H, Okada Y, Okamoto Y, Hiramatsu Y, Takashima H, Yamaguchi M. Li J, et al. Exp Cell Res. 2019 Jun 15;379(2):150-158. doi: 10.1016/j.yexcr.2019.03.040. Epub 2019 Apr 3. Exp Cell Res. 2019. PMID: 30953623
Mutations in the HADHB gene induce dysfunctions in the beta-oxidation of fatty acids and result in a MTP deficiency, which is characterized by clinical heterogeneity, such as cardiomyopathy and recurrent Leigh-like encephalopathy. ...The mechanisms linking neuronal …
Mutations in the HADHB gene induce dysfunctions in the beta-oxidation of fatty acids and result in a MTP deficiency, which is …
59 results