Cargando…

Identification of seven novel variants in the β-globin gene in transfusion-dependent and normal patients

INTRODUCTION: Abnormality in HBB results in an inherited recessive blood disorder, which can be caused by variants at the transcriptional or translational level affecting the stability and the production of the HBB chain. The severity of the disease relies on the variant’s characteristics. This stud...

Descripción completa

Detalles Bibliográficos
Autores principales:	Aldakeel, Sumayh A., Ghanem, Neda Z., Al-Amodi, Amani M., Osman, Ahoud Khalid, Al Asoom, Lubna Ibrahim, Ahmed, Nazish Rafique, Almandil, Noor B., Akhtar, Mohammed Shakil, Azeez, Sayed Abdul, Borgio, J. Francis
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Termedia Publishing House 2019
Materias:	Basic Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7069418/ https://www.ncbi.nlm.nih.gov/pubmed/32190157 http://dx.doi.org/10.5114/aoms.2019.84825

Ejemplares similares

Genetic disorder prenatal diagnosis and pregnancy termination practices among high consanguinity population, Saudi Arabia
por: AbdulAzeez, Sayed, et al.
Publicado: (2019)

Prevalence and Molecular Genetics of Methicillin-Resistant Staphylococcus aureus Colonization in Nursing Homes in Saudi Arabia
por: Albarrag, Ahmed, et al.
Publicado: (2020)

A Pilot Mitochondrial Genome-Wide Association on Migraine Among Saudi Arabians
por: Al Asoom, Lubna, et al.
Publicado: (2022)

Identification and Antibacterial Characterization of Endophytic Fungi from Artemisia sieberi
por: Ababutain, Ibtisam Mohammed, et al.
Publicado: (2021)

Integration of Transcriptome and Exome Genotyping Identifies Significant Variants with Autism Spectrum Disorder
por: Almandil, Noor B., et al.
Publicado: (2022)

Molecular, physiological, and biochemical characterization of extracellular lipase production by Aspergillus niger using submerged fermentation
por: Alabdalall, Amira Hassan, et al.
Publicado: (2020)

State-of-the-art tools unveil potent drug targets amongst clinically approved drugs to inhibit helicase in SARS-CoV-2
por: Borgio, J. Francis, et al.
Publicado: (2020)

Whole-Exome Sequencing Reveals Migraine-Associated Novel Functional Variants in Arab Ancestry Females: A Pilot Study
por: Khan, Johra, et al.
Publicado: (2022)

Effects of (–3.7)α Deletion and Sickle-Cell Trait on Ventilatory and Hemodynamic Responses to Maximum Exercise in Young Saudi Females
por: Al Asoom, Lubna Ibrahim, et al.
Publicado: (2020)

The rs61742690 (S783N) single nucleotide polymorphism is a suitable target for disrupting BCL11A-mediated foetal-to-adult globin switching
por: Abdulazeez, Sayed, et al.
Publicado: (2019)

Comparing levels of psychological stress and its inducing factors among medical students
por: Rafique, Nazish, et al.
Publicado: (2019)

Whole-Genome Sequencing Reveals Exonic Variation of ASIC5 Gene Results in Recurrent Pregnancy Loss
por: Al Qahtani, Nourah H., et al.
Publicado: (2021)

Validity of maximal oxygen consumption prediction equations in young Saudi females
por: Almakhaita, Marwah M., et al.
Publicado: (2019)

Genomic Insights into Virulence Factors and Multi-Drug Resistance in Clostridium perfringens IRMC2505A
por: AlJindan, Reem, et al.
Publicado: (2023)

Environmental and Genetic Factors in Autism Spectrum Disorders: Special Emphasis on Data from Arabian Studies
por: Almandil, Noor B., et al.
Publicado: (2019)

Exome-wide analysis identify multiple variations in olfactory receptor genes (OR12D2 and OR5V1) associated with autism spectrum disorder in Saudi females
por: Almandil, Noor B., et al.
Publicado: (2023)

The Effectiveness of Nigella sativa and Ginger as Appetite Suppressants: An Experimental Study on Healthy Wistar Rats
por: Al Asoom, Lubna, et al.
Publicado: (2023)

The Effectiveness of Nigella sativa and Ginger as Appetite Suppressants: An Experimental Study on Healthy Wistar Rats [Response to Letter]
por: Al Asoom, Lubna, et al.
Publicado: (2023)

Effects of Mobile Use on Subjective Sleep Quality
por: Rafique, Nazish, et al.
Publicado: (2020)

A comprehensive review of the prevalence of beta globin gene variations and the co-inheritance of related gene variants in Saudi Arabians with beta-thalassemia
por: Alaithan, Mousa A., et al.
Publicado: (2018)

Molecular nature of alpha-globin genes in the Saudi population
por: Borgio, J. Francis
Publicado: (2015)

Association between sex hormones and migraine in young Saudi females
por: Al Asoom, Lubna I., et al.
Publicado: (2021)

Protective Association of Single Nucleotide Polymorphisms rs1861868-FTO and rs7975232-VDR and Obesity in Saudi Females
por: Al Asoom, Lubna Ibrahim, et al.
Publicado: (2020)

Fetal Nucleated Red Blood Cells Preferable Than Cell-Free Fetal DNA for Early Determination of Gender Among Invasive and Non-Invasive Source Using Novel Four Genes Multiplex PCR
por: Alhur, Norah F, et al.
Publicado: (2021)

Impact of annotation error in α-globin genes on molecular diagnosis
por: Borgio, J. Francis
Publicado: (2017)

Emerging Status of Multidrug-Resistant Bacteria and Fungi in the Arabian Peninsula
por: Borgio, J. Francis, et al.
Publicado: (2021)

State-of-the-art tools to identify druggable protein ligand of SARS-CoV-2
por: Azeez, Sayed Abdul, et al.
Publicado: (2020)

Diagnostic Accuracy of Serum Calcitonin Gene-Related Peptide and Apolipoprotein E in Migraine: A Preliminary Study
por: Latif, Rabia, et al.
Publicado: (2021)

Is Nigella sativa an Effective Bodyweight Lowering Agent and a Mitigator of Obesity Risk? A Literature Review
por: Al Asoom, Lubna
Publicado: (2022)

The Long-Term Impact of COVID-19 Pneumonia on the Pulmonary Function of Survivors
por: Salem, Ayad Mohammed, et al.
Publicado: (2021)

Genomic Landscape of Multidrug Resistance and Virulence in Enterococcus faecalis IRMC827A from a Long-Term Patient
por: Borgio, J. Francis, et al.
Publicado: (2023)

Factors Affecting Health Care Professionals’ Adherence to COVID-19 Precautionary Measures
por: Latif, Rabia, et al.
Publicado: (2022)

The Association of Adiposity Indices and Plasma Vitamin D in Young Females in Saudi Arabia
por: Al Asoom, Lubna Ibrahim
Publicado: (2016)

Coronary angiogenic effect of long-term administration of Nigella sativa
por: Al Asoom, Lubna I.
Publicado: (2017)

Molecular Mechanisms of Nigella sativa- and Nigella sativa Exercise-Induced Cardiac Hypertrophy in Rats
por: Al Asoom, Lubna Ibrahim
Publicado: (2021)

The Psychological Impact of COVID-19 on Residents of Saudi Arabia
por: Rafique, Nazish, et al.
Publicado: (2022)

The association of adiposity, physical fitness, vitamin D levels and haemodynamic parameters in young Saudi females
por: Al Asoom, Lubna I., et al.
Publicado: (2017)

Mining the nanotube-forming Bacillus amyloliquefaciens MR14M3 genome for determining anti-Candida auris and anti-Candida albicans potential by pathogenicity and comparative genomics analysis
por: Borgio, J. Francis, et al.
Publicado: (2023)

Cardiac Inotropic Effect of Long-Term Administration of Oral Thymoquinone
por: Asoom, Lubna Ibrahim Al, et al.
Publicado: (2019)

Association Between Time Spent on Electronic Devices and Body Mass Index in Young Adults
por: Rafique, Nazish, et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_b4j2t6d5us7lgeum7rrhj0bm5h