Cargando…

Next-generation sequencing of the whole mitochondrial genome identifies functionally deleterious mutations in patients with multiple sclerosis

Multiple sclerosis (MS) is an immune-mediated disease of the central nervous system with genetics and environmental determinants. Studies focused on the neurogenetics of MS showed that mitochondrial DNA (mtDNA) mutations that can ultimately lead to mitochondrial dysfunction, alter brain energy metab...

Descripción completa

Detalles Bibliográficos
Autores principales:	Al-Kafaji, Ghada, Bakheit, Halla F., AlAli, Faisal, Fattah, Mina, Alhajeri, Saad, Alharbi, Maram A., Daif, Abdulqader, Alsabbagh, Manahel Mahmood, Alwehaidah, Materah Salem, Bakhiet, Moiz
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Public Library of Science 2022
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8820615/ https://www.ncbi.nlm.nih.gov/pubmed/35130313 http://dx.doi.org/10.1371/journal.pone.0263606

Ejemplares similares

Mitochondrial DNA haplogroup analysis in Saudi Arab patients with multiple sclerosis
por: Al-Kafaji, Ghada, et al.
Publicado: (2022)

Next-generation sequencing of the whole mitochondrial genome identifies novel and common variants in patients with psoriasis, type 2 diabetes mellitus and psoriasis with comorbid type 2 diabetes mellitus
por: Alwehaidah, Materah Salem, et al.
Publicado: (2021)

Comprehensive analysis of mitochondrial DNA variants, mitochondrial DNA copy number and oxidative damage in psoriatic arthritis
por: Alwehaidah, Materah Salem, et al.
Publicado: (2023)

Four novel mutations in the mitochondrial ND4 gene of complex I in patients with multiple sclerosis
por: Alharbi, Maram Atallah, et al.
Publicado: (2019)

Leukocyte mitochondrial DNA copy number is a potential non-invasive biomarker for psoriasis
por: Alwehaidah, Materah Salem, et al.
Publicado: (2022)

Mitochondrial DNA copy number in autism spectrum disorder and attention deficit hyperactivity disorder: a systematic review and meta-analysis
por: Al-Kafaji, Ghada, et al.
Publicado: (2023)

Analysis of the entire mitochondrial genome reveals Leber’s hereditary optic neuropathy mitochondrial DNA mutations in an Arab cohort with multiple sclerosis
por: Al‐Kafaji, Ghada, et al.
Publicado: (2022)

Investigation of germline variants in Bahraini women with breast cancer using next-generation sequencing based-multigene panel
por: Al-Kafaji, Ghada, et al.
Publicado: (2023)

Whole blood transcriptomic analysis reveals PLSCR4 as a potential marker for vaso-occlusive crises in sickle cell disease
por: Abdulwahab, Hawra, et al.
Publicado: (2021)

Knocking down Israa, the Zmiz1 intron-nested gene, unveils interrelated T cell activation functions in mouse
por: Ben Khalaf, Noureddine, et al.
Publicado: (2021)

High Glucose-Induced Oxidative Stress Increases the Copy Number of Mitochondrial DNA in Human Mesangial Cells
por: Al-Kafaji, Ghada, et al.
Publicado: (2013)

Evaluation of Two-Diabetes Related microRNAs Suitability as Earlier Blood Biomarkers for Detecting Prediabetes and type 2 Diabetes Mellitus
por: Al-Muhtaresh, Haifa Abdullah, et al.
Publicado: (2018)

Dysregulation of human beta-defensin-3 expression in the peripheral blood of patients with sepsis
por: Al Mansour, Noura, et al.
Publicado: (2021)

Can endotracheal intubation be the first step in management of nonconvulsive status epilepticus?: A case report
por: Warraich, Saad, et al.
Publicado: (2018)

Role of Cytokine Signaling during Nervous System Development
por: Mousa, Alyaa, et al.
Publicado: (2013)

SARS-CoV-2: Targeted managements and vaccine development
por: Bakhiet, Moiz, et al.
Publicado: (2021)

Population genetic data of the 21 autosomal STRs included in GlobalFiler kit of a population sample from the Kingdom of Bahrain
por: Al-Snan, Noora R., et al.
Publicado: (2019)

Radiation Shielding of Fiber Reinforced Polymer Composites Incorporating Lead Nanoparticles—An Empirical Approach
por: A. Abu Saleem, Rabie, et al.
Publicado: (2021)

Expression of Aldehyde Dehydrogenase (ALDH1) and ATP Binding Cassette Transporter G2 (ABCG2) in Iraqi Patients with Colon Cancer and the Relation with Clinicopathological Features
por: Mahmood, Noah Abdulqader, et al.
Publicado: (2018)

Multiple Sclerosis Presenting with Sixth Nerve Palsy in a Child
por: Al-Yousuf, Nada, et al.
Publicado: (2021)

Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics
por: Maddirevula, Sateesh, et al.
Publicado: (2020)

A role for the immune system-released activating agent (ISRAA) in the ontogenetic development of brain astrocytes
por: Al-Awadi, Aminah M. I., et al.
Publicado: (2021)

Commentary: Impact of a deletion of the full-length and short isoform of p75NTR on cholinergic innervation and the population of postmitotic doublecortin positive cells in the dentate gyrus
por: Sabry, Mohamed A., et al.
Publicado: (2016)

Structure analysis of deleterious nsSNPs in human PALB2 protein for functional inference
por: Nawar, Noshin, et al.
Publicado: (2021)

Persistent deleterious effects of a deleterious Wolbachia infection
por: Ross, Perran A., et al.
Publicado: (2020)

A case report of neurological complications owing to lately diagnosed hyperargininemia emphasizing the role of national neonatal screening policies in the kingdom of Bahrain
por: Bakhiet, Moiz, et al.
Publicado: (2018)

An interspecies conserved motif of the mouse immune system-released activating agent (ISRAA) induces proliferative effects on human cells
por: TAHA, SAFA, et al.
Publicado: (2014)

Flow Cytometry Detection of Sperm DNA Fragmentation and Apoptotic Markers in the Semen of Infertile Males
por: Omran, Huda Mossa, et al.
Publicado: (2021)

Screening and Evaluation of Deleterious SNPs in APOE Gene of Alzheimer's Disease
por: Masoodi, Tariq Ahmad, et al.
Publicado: (2012)

Vancomycin-Induced Fever and Neutropenia in an Immunocompetent Patient With Complicated Community-Acquired Pneumonia
por: Alharbi, Hind H, et al.
Publicado: (2022)

A Rare 46,X,t(Y;10)(q12;p14) Balanced Translocation in Non-Obstructive Azoospermic Patient with Elevated FSH and LH Levels
por: Jahan Syeeda Khursheed, Kousar, et al.
Publicado: (2023)

Population genetics of 30 insertion/deletion polymorphisms in the Bahraini population
por: Al-Snan, Noora R., et al.
Publicado: (2021)

Assessment of Public Perception and Attitude Toward Skin Donation in Saudi Arabia
por: AlShammrie, Fawwaz F, et al.
Publicado: (2022)

Predictors of Vascular Cognitive Impairment Poststroke in a Middle Eastern (Bahrain) Cohort: A Proposed Case-Control Comparison
por: Donnellan, Claire, et al.
Publicado: (2016)

Lemierre Syndrome Complicating Deep Neck Infection and Descending Mediastinitis Secondary to Methicillin resistant Staphylococcus aureus (MRSA) Infection
por: Al-Hebshi, Abdulqader, et al.
Publicado: (2022)

The deleterious effect of intracardiac pacing leads on right ventricular function
por: Nadar, Sunil K, et al.
Publicado: (2021)

Computational Identification of Most Deleterious Missense Mutations in Human PD-1 Gene
por: Ahmed Al-Madhagi, Haitham
Publicado: (2023)

A Central Nervous System-Dependent Intron-Embedded Gene Encodes a Novel Murine Fyn Binding Protein
por: Ben Khalaf, Noureddine, et al.
Publicado: (2016)

Sphenopalatine Ganglion Block for the Treatment of Acute Migraine Headache
por: Binfalah, Mohamed, et al.
Publicado: (2018)

Gamma interferon expression and major histocompatibility complex induction during measles and vesicular stomatitis virus infections of the brain
por: Gogate, Nitin, et al.
Publicado: (1991)

Cannot write session to /tmp/vufind_sessions/sess_tlepii8bbl2huc9pnimkhth6tc