Cargando…

Single-cell transcriptome identifies molecular subtype of autism spectrum disorder impacted by de novo loss-of-function variants regulating glial cells

BACKGROUND: In recent years, several hundred autism spectrum disorder (ASD) implicated genes have been discovered impacting a wide range of molecular pathways. However, the molecular underpinning of ASD, particularly from the point of view of ‘brain to behaviour’ pathogenic mechanisms, remains large...

Descripción completa

Detalles Bibliográficos
Autores principales:	Nassir, Nasna, Bankapur, Asma, Samara, Bisan, Ali, Abdulrahman, Ahmed, Awab, Inuwa, Ibrahim M., Zarrei, Mehdi, Safizadeh Shabestari, Seyed Ali, AlBanna, Ammar, Howe, Jennifer L., Berdiev, Bakhrom K., Scherer, Stephen W., Woodbury-Smith, Marc, Uddin, Mohammed
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2021
Materias:	Primary Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8607722/ https://www.ncbi.nlm.nih.gov/pubmed/34802461 http://dx.doi.org/10.1186/s40246-021-00368-7

Ejemplares similares

Overlapping pathogenic de novo CNVs in neurodevelopmental disorders and congenital anomalies impacting constraint genes regulating early development
por: Safizadeh Shabestari, Seyed Ali, et al.
Publicado: (2022)

Long-Read Sequencing Improves the Detection of Structural Variations Impacting Complex Non-Coding Elements of the Genome
por: Begum, Ghausia, et al.
Publicado: (2021)

Analyzing single cell transcriptome data from severe COVID-19 patients
por: Nassir, Nasna, et al.
Publicado: (2022)

Single-cell transcriptome identifies FCGR3B upregulated subtype of alveolar macrophages in patients with critical COVID-19
por: Nassir, Nasna, et al.
Publicado: (2021)

Cell-specific MAPT gene expression is preserved in neuronal and glial tau cytopathologies in progressive supranuclear palsy
por: Forrest, Shelley L., et al.
Publicado: (2023)

Novel mutations in actionable breast cancer genes by targeted sequencing in an ethnically homogenous cohort
por: Akter, Hosneara, et al.
Publicado: (2019)

Mutational Landscape of Autism Spectrum Disorder Brain Tissue
por: Woodbury-Smith, Marc, et al.
Publicado: (2022)

Genomic Context Analysis of de Novo STXBP1 Mutations Identifies Evidence of Splice Site DNA-Motif Associated Hotspots
por: Uddin, Mohammed, et al.
Publicado: (2018)

A telomerase with novel non-canonical roles: TERT controls cellular aggregation and tissue size in Dictyostelium
por: Nassir, Nasna, et al.
Publicado: (2019)

Variable phenotype expression in a family segregating microdeletions of the NRXN1 and MBD5 autism spectrum disorder susceptibility genes
por: Woodbury-Smith, Marc, et al.
Publicado: (2017)

Whole exome sequencing uncovered highly penetrant recessive mutations for a spectrum of rare genetic pediatric diseases in Bangladesh
por: Akter, Hosneara, et al.
Publicado: (2021)

Diagnostic accuracy of QuickVue® Dipstick Strep A test and its effect on antibiotic prescribing in children in the United Arab Emirates
por: Safizadeh Shabestari, Seyed Ali, et al.
Publicado: (2019)

Drug-induced acute pancreatitis in a bodybuilder: a case report
por: Safizadeh Shabestari, Seyed Ali, et al.
Publicado: (2022)

CT genotype of 5,10-methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism is protector factor of major depressive disorder in the Tunisian population: a case control study
por: Sayadi, Mohamed Amine, et al.
Publicado: (2016)

Mutations in RAB39B in individuals with intellectual disability, autism spectrum disorder, and macrocephaly
por: Woodbury-Smith, Marc, et al.
Publicado: (2017)

CER1 gene variations associated with bone mineral density, bone markers, and early menopause in postmenopausal women
por: Koromila, Theodora, et al.
Publicado: (2013)

Neuronal SNCA transcription during Lewy body formation
por: Kon, Tomoya, et al.
Publicado: (2023)

A genome-wide linkage study of autism spectrum disorder and the broad autism phenotype in extended pedigrees
por: Woodbury-Smith, Marc, et al.
Publicado: (2018)

Secretory phospholipase-A2 and fatty acid composition in oral reactive lesions: a cross-sectional study
por: Mesgarzadeh, Ali Hossein, et al.
Publicado: (2017)

An event-driven approach for studying gene block evolution in bacteria
por: Ream, David C., et al.
Publicado: (2015)

AGAP2-AS1 as a prognostic biomarker in low-risk clear cell renal cell carcinoma patients with progressing disease
por: Nakken, Sigrid, et al.
Publicado: (2021)

The implications of women’s activity limitations and role disruptions during breast cancer survivorship
por: Keesing, Sharon, et al.
Publicado: (2018)

Ovarian cyst removal influences ovarian reserve dependent on histology, size and type of operation
por: Henes, Melanie, et al.
Publicado: (2018)

Telehealth intervention for Latina breast cancer survivors: A pilot
por: Meneses, Karen, et al.
Publicado: (2018)

Trajectories of lower back, upper back, and pelvic girdle pain during pregnancy and early postpartum in primiparous women
por: Dunn, Guinn, et al.
Publicado: (2019)

Reproductive health care utilization among refugees in Jordan: Provisional support and domestic violence
por: Pierce, Hayley
Publicado: (2019)

Hysterectomy for benign conditions: Complications relative to surgical approach and other variables that lead to post-operative readmission within 90 days of surgery
por: Lonky, Neal M, et al.
Publicado: (2017)

The relationship between employment status and depression symptomatology among women at risk for postpartum depression
por: Lewis, Beth A, et al.
Publicado: (2017)

Efficacy and challenges of a culturally relevant intervention to improve attitudes to aging
por: Seah, Siang Joo, et al.
Publicado: (2019)

Home ovulation test use and stress during subfertility evaluation: Subarm of a randomized controlled trial
por: Weddell, Sarah, et al.
Publicado: (2019)

Do physical activity levels differ by number of children at home in women aged 25–44 in the general population?
por: Abell, Laura P, et al.
Publicado: (2019)

Determinants of uterine rupture among mothers who gave birth in Jinka and Arba Minch General Hospitals, institution-based case–control study, Southern Ethiopia, Ethiopia, 2019
por: Girmay, Goitom, et al.
Publicado: (2020)

Parental health in fellowship trainees: Fellows’ satisfaction with current policies and interest in innovation
por: Marshall, Ariela L, et al.
Publicado: (2020)

A prospective quasi-experimental controlled study evaluating the use of dynamic elastomeric fabric orthoses to manage common postpartum ailments during postnatal care
por: Szkwara, Jaclyn Michele, et al.
Publicado: (2020)

Determinants of gonorrhea and syphilis infections among pregnant women attending antenatal clinic at Dilla University Referral Hospital, Ethiopia: Unmatched case-control study
por: Hailu, Kumneger, et al.
Publicado: (2020)

A comparison of diet versus diet + exercise programs for health improvement in middle-aged overweight women
por: Joseph, Gili, et al.
Publicado: (2020)

Assisting patients experiencing family violence: A survey of training levels, perceived knowledge, and confidence of clinical staff in a large metropolitan hospital
por: Fisher, Caroline A., et al.
Publicado: (2020)

Simplified morphological evaluation of skeletal muscle mass and maximum muscle strength in healthy young women: Comparison between thigh and calf
por: Yasuda, Tomohiro
Publicado: (2020)

Experiences of a multiple intervention trial to increase maternity care access in rural Tanzania: Focus group findings with women, nurses and community health workers
por: Webber, Gail, et al.
Publicado: (2020)

Saudi women’s physical activity habits during pregnancy
por: Alaglan, Abeer A, et al.
Publicado: (2020)

Cannot write session to /tmp/vufind_sessions/sess_2j8qro833eq5lmmfe26sirkkk4