Cargando…

Exome Sequencing Identifies the Extremely Rare ITGAV and FN1 Variants in Early Onset Inflammatory Bowel Disease Patients

BACKGROUND: Molecular diagnosis of early onset inflammatory bowel disease (IBD) is very important for adopting suitable treatment strategies. Owing to the sparse data available, this study aims to identify the molecular basis of early onset IBD in Arab patients. METHODS: A consanguineous Arab family...

Descripción completa

Detalles Bibliográficos
Autores principales:	Al-Numan, Huda Husain, Jan, Rana Mohammed, Al-Saud, Najla bint Saud, Rashidi, Omran M., Alrayes, Nuha Mohammad, Alsufyani, Hadeel A., Mujalli, Abdulrahman, Shaik, Noor Ahmad, Mosli, Mahmoud Hisham, Elango, Ramu, Saadah, Omar I., Banaganapalli, Babajan
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2022
Materias:	Pediatrics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9178107/ https://www.ncbi.nlm.nih.gov/pubmed/35692981 http://dx.doi.org/10.3389/fped.2022.895074

Ejemplares similares

Rare variant burden analysis from exomes of three consanguineous families reveals LILRB1 and PRSS3 as potential key proteins in inflammatory bowel disease pathogenesis
por: Jan, Rana Mohammed, et al.
Publicado: (2023)

Structural characterization and conformational dynamics of alpha-1 antitrypsin pathogenic variants causing alpha-1-antitrypsin deficiency
por: Shaik, Noor Ahmad, et al.
Publicado: (2022)

Bioinformatics insights into the genes and pathways on severe COVID-19 pathology in patients with comorbidities
por: Mujalli, Abdulrahman, et al.
Publicado: (2022)

Whole exome sequencing of a Saudi family and systems biology analysis identifies CPED1 as a putative causative gene to Celiac Disease
por: Bokhari, Hifaa A., et al.
Publicado: (2020)

Potential Biomarkers for Parkinson Disease from Functional Enrichment and Bioinformatic Analysis of Global Gene Expression Patterns of Blood and Substantia Nigra Tissues
por: Elango, Ramu, et al.
Publicado: (2023)

Integrative weighted molecular network construction from transcriptomics and genome wide association data to identify shared genetic biomarkers for COPD and lung cancer
por: Banaganapalli, Babajan, et al.
Publicado: (2022)

Whole exome sequencing identifies rare biallelic ALMS1 missense and stop gain mutations in familial Alström syndrome patients
por: Kamal, Naglaa M., et al.
Publicado: (2020)

Identification of a Rare Exon 19 Skipping Mutation in ALMS1 Gene in Alström Syndrome Patients From Two Unrelated Saudi Families
por: Saadah, Omar I., et al.
Publicado: (2021)

Complex Inheritance of Rare Missense Variants in PAK2, TAP2, and PLCL1 Genes in a Consanguineous Arab Family With Multiple Autoimmune Diseases Including Celiac Disease
por: Alharthi, Arwa Mastoor, et al.
Publicado: (2022)

Genome-Wide Association Study-Guided Exome Rare Variant Burden Analysis Identifies IL1R1 and CD3E as Potential Autoimmunity Risk Genes for Celiac Disease
por: Mansour, Haifa, et al.
Publicado: (2022)

Identification of miRNA–mRNA–TFs regulatory network and crucial pathways involved in asthma through advanced systems biology approaches
por: Shaik, Noor Ahmad, et al.
Publicado: (2022)

In-Silico Analysis of Inflammatory Bowel Disease (IBD) GWAS Loci to Novel Connections
por: Mesbah-Uddin, Md., et al.
Publicado: (2015)

Saudi Familial Hypercholesterolemia Patients With Rare LDLR Stop Gain Variant Showed Variable Clinical Phenotype and Resistance to Multiple Drug Regimen
por: Awan, Zuhier Ahmed, et al.
Publicado: (2021)

Multilevel systems biology analysis of lung transcriptomics data identifies key miRNAs and potential miRNA target genes for SARS-CoV-2 infection
por: Banaganapalli, Babajan, et al.
Publicado: (2021)

A comparative mRNA- and miRNA transcriptomics reveals novel molecular signatures associated with metastatic prostate cancers
por: Shinawi, Thoraia, et al.
Publicado: (2022)

Protein structural insights into a rare PCSK9 gain-of-function variant (R496W) causing familial hypercholesterolemia in a Saudi family: whole exome sequencing and computational analysis
por: Shaik, Noor Ahmad, et al.
Publicado: (2023)

Exome sequencing and metabolomic analysis of a chronic kidney disease and hearing loss patient family revealed RMND1 mutation induced sphingolipid metabolism defects
por: Gaboon, Nagwa E.A., et al.
Publicado: (2020)

Whole exome sequencing of a consanguineous family identifies the possible modifying effect of a globally rare AK5 allelic variant in celiac disease development among Saudi patients
por: Al-Aama, Jumana Yousuf, et al.
Publicado: (2017)

Paget’s disease: a review of the epidemiology, etiology, genetics, and treatment
por: Banaganapalli, Babajan, et al.
Publicado: (2023)

Exploring celiac disease candidate pathways by global gene expression profiling and gene network cluster analysis
por: Banaganapalli, Babajan, et al.
Publicado: (2020)

TagSNP approach for HLA risk allele genotyping of Saudi celiac disease patients: effectiveness and pitfalls
por: Baaqeel, Reham H., et al.
Publicado: (2021)

Dengue and human health: A global scenario of its occurrence, diagnosis and therapeutics
por: Sabir, Mernan Jamal, et al.
Publicado: (2021)

Computational approaches for discovering significant microRNAs, microRNA-mRNA regulatory pathways, and therapeutic protein targets in endometrial cancer
por: Ajabnoor, Ghada, et al.
Publicado: (2023)

Replication of GWAS Coding SNPs Implicates MMEL1 as a Potential Susceptibility Locus among Saudi Arabian Celiac Disease Patients
por: Saadah, Omar I., et al.
Publicado: (2015)

Impact of curcumin treatment on diabetic albino rats
por: Al-Saud, Najlaa Bint Saud
Publicado: (2020)

Computational Molecular Phenotypic Analysis of PTPN22 (W620R), IL6R (D358A), and TYK2 (P1104A) Gene Mutations of Rheumatoid Arthritis
por: Shaik, Noor Ahmad, et al.
Publicado: (2019)

Molecular designing, virtual screening and docking study of novel curcumin analogue as mutation (S769L and K846R) selective inhibitor for EGFR
por: Shaik, Noor Ahmad, et al.
Publicado: (2019)

Identifying significant genes and functionally enriched pathways in familial hypercholesterolemia using integrated gene co-expression network analysis
por: Awan, Zuhier, et al.
Publicado: (2022)

Transition Readiness Into Adult Health Care in Children With Inflammatory Bowel Disease
por: Alsufyani, Hadeel A., et al.
Publicado: (2023)

Association of Four Missense SNPs with Preeclampsia in Saudi Women
por: Aljuaid, Nada Mohammed, et al.
Publicado: (2020)

Identification of key regulatory genes connected to NF-κB family of proteins in visceral adipose tissues using gene expression and weighted protein interaction network
por: Sabir, Jamal S. M., et al.
Publicado: (2019)

Granulomatous hepatitis in a Saudi child with IL2RA defect: a case report and literature review
por: Alaifan, Meshari A., et al.
Publicado: (2022)

Exome Analysis Identifies a Novel Compound Heterozygous Alteration in TGM1 Gene Leading to Lamellar Ichthyosis in a Child From Saudi Arabia: Case Presentation
por: Alallasi, Sami Raja, et al.
Publicado: (2019)

Expanded Somatic Mutation Spectrum of MED12 Gene in Uterine Leiomyomas of Saudi Arabian Women
por: Ajabnoor, Ghada M. A., et al.
Publicado: (2018)

Computational Protein Phenotype Characterization of IL10RA Mutations Causative to Early Onset Inflammatory Bowel Disease (IBD)
por: Al-Abbasi, Fahad A., et al.
Publicado: (2018)

Novel MYO1D Missense Variant Identified Through Whole Exome Sequencing and Computational Biology Analysis Expands the Spectrum of Causal Genes of Laterality Defects
por: Alsafwani, Rabab Said, et al.
Publicado: (2021)

Dissecting the Role of NF-κb Protein Family and Its Regulators in Rheumatoid Arthritis Using Weighted Gene Co-Expression Network
por: Sabir, Jamal S. M., et al.
Publicado: (2019)

Association of ITGAV supports a role of angiogenesis in rheumatoid arthritis
por: Ahnert, Peter, et al.
Publicado: (2007)

Metabolic bone disease in children and adolescent patients with ulcerative colitis
por: Mosli, Mahmoud Hisham, et al.
Publicado: (2020)

The use of therapeutic drug monitoring for early identification of vedolizumab response in Saudi Arabian patients with inflammatory bowel disease
por: Anbarserry, Doaa, et al.
Publicado: (2023)

Cannot write session to /tmp/vufind_sessions/sess_8o8m72ccbk6uqgmi7vkmoo5q4k