Cargando…

Comprehensive Genetic Analysis of Druze Provides Insights into Carrier Screening

Background: Druze individuals, like many genetically homogeneous and isolated populations, harbor recurring pathogenic variants (PV) in autosomal recessive (AR) disorders. Methods: Variant calling of whole-genome sequencing (WGS) of 40 Druze from the Human Genome Diversity Project (HGDP) was perform...

Descripción completa

Detalles Bibliográficos
Autores principales:	Avnat, Eden, Shapira, Guy, Shoval, Shelly, Israel-Elgali, Ifat, Alkelai, Anna, Shuldiner, Alan R., Gonzaga-Jauregui, Claudia, Zidan, Jamal, Maray, Taiseer, Shomron, Noam, Friedman, Eitan
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2023
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10137689/ https://www.ncbi.nlm.nih.gov/pubmed/37107695 http://dx.doi.org/10.3390/genes14040937

Ejemplares similares

Hippocampal differential expression underlying the neuroprotective effect of delta-9-tetrahydrocannabinol microdose on old mice
por: Shapira, Guy, et al.
Publicado: (2023)

Elevated Expression of RGS2 May Underlie Reduced Olfaction in COVID-19 Patients
por: Avnat, Eden, et al.
Publicado: (2022)

Genome wide analysis implicates upregulation of proteasome pathway in major depressive disorder
por: Belaish, Shaked, et al.
Publicado: (2021)

Reconstructing Druze population history
por: Marshall, Scarlett, et al.
Publicado: (2016)

Microdeletion of 16q24.1–q24.2—A unique etiology of Lymphedema–Distichiasis syndrome and neurodevelopmental disorder
por: Michelson, Marina, et al.
Publicado: (2022)

The Druze: A Population Genetic Refugium of the Near East
por: Shlush, Liran I., et al.
Publicado: (2008)

The development of the status of Druze women in the 21st century
por: Faraj Falah, Janan
Publicado: (2023)

Essential Tremor Prevalence is Low in the Druze Population in Northern Israel
por: Aharon-peretz, Judith, et al.
Publicado: (2012)

Population differences in antibody response to SARS‐CoV‐2 infection and BNT162b2 vaccination
por: Shapira, Guy, et al.
Publicado: (2022)

Israeli Druze women’s sex preferences when choosing obstetricians and gynecologists
por: Amer-Alshiek, Jonia, et al.
Publicado: (2015)

Stigma related to breast cancer among women and men: The case of the Druze minority in Israel
por: Gershfeld-Litvin, Avital, et al.
Publicado: (2022)

Gut microbial signatures are associated with Lynch syndrome (LS) and cancer history in Druze communities in Israel
por: Naddaf, Rawi, et al.
Publicado: (2023)

The relationship between non-suicidal self-injury, identity conflict, and risky behavior among Druze adolescents
por: Toukhy, Nermin, et al.
Publicado: (2022)

Unexpected gender differences in progressive supranuclear palsy reveal efficacy for davunetide in women
por: Gozes, Illana, et al.
Publicado: (2023)

Immunosuppression as a Hub for SARS-CoV-2 Mutational Drift
por: Shapira, Guy, et al.
Publicado: (2023)

MicroRNA-Mediated Regulation of ITGB3 and CHL1 Is Implicated in SSRI Action
por: Oved, Keren, et al.
Publicado: (2017)

Characterization of MicroRNA and Gene Expression Profiles Following Ricin Intoxication
por: Pillar, Nir, et al.
Publicado: (2019)

Transcriptomic Analysis of Human Fragile X Syndrome Neurons Reveals Neurite Outgrowth Modulation by the TGFβ/BMP Pathway
por: Kuznitsov-Yanovsky, Liron, et al.
Publicado: (2022)

Differential analysis of mutations in the Jewish population and their implications for diseases
por: EINHORN, YARON, et al.
Publicado: (2017)

Behavioral aspects and neurobiological properties underlying medical cannabis treatment in Shank3 mouse model of autism spectrum disorder
por: Poleg, Shani, et al.
Publicado: (2021)

Actionable clinical decisions based on comprehensive genomic evaluation in asymptomatic adults
por: Pillar, Nir, et al.
Publicado: (2015)

Local microRNA delivery targets Palladin and prevents metastatic breast cancer
por: Gilam, Avital, et al.
Publicado: (2016)

Autophagy is induced and modulated by cholesterol depletion through transcription of autophagy-related genes and attenuation of flux
por: Shapira, Keren E., et al.
Publicado: (2021)

Multiple Copies of microRNA Binding Sites in Long 3′UTR Variants Regulate Axonal Translation
por: Farberov, Luba, et al.
Publicado: (2023)

‘Earlier than Early’ Detection of Breast Cancer in Israeli BRCA Mutation Carriers Applying AI-Based Analysis to Consecutive MRI Scans
por: Anaby, Debbie, et al.
Publicado: (2023)

Altered White Matter and microRNA Expression in a Murine Model Related to Williams Syndrome Suggests That miR-34b/c Affects Brain Development via Ptpru and Dcx Modulation
por: Grad, Meitar, et al.
Publicado: (2022)

mRNA splicing is modulated by intronic microRNAs
por: Farberov, Luba, et al.
Publicado: (2023)

Transcriptional Profiling of Mouse Eosinophils Identifies Distinct Gene Signatures Following Cellular Activation
por: Dolitzky, Avishay, et al.
Publicado: (2021)

Genomic Markers Associated with Cytomegalovirus DNAemia in Kidney Transplant Recipients
por: Shapira, Guy, et al.
Publicado: (2023)

Bayesian-based noninvasive prenatal diagnosis of single-gene disorders
por: Rabinowitz, Tom, et al.
Publicado: (2019)

Controversies and Open Questions in Management of Cancer-Free Carriers of Germline Pathogenic Variants in BRCA1/BRCA2
por: Bernstein-Molho, Rinat, et al.
Publicado: (2022)

MicroRNAs and Developmental Robustness: A New Layer Is Revealed
por: Shomron, Noam
Publicado: (2010)

TWIST1 methylation by SETD6 selectively antagonizes LINC-PINT expression in glioma
por: Admoni-Elisha, Lee, et al.
Publicado: (2022)

Evolution of colorectal cancer screening research in the past 25 years: text-mining analysis of publication trends and topics
por: Soffer, Shelly, et al.
Publicado: (2020)

Similar burden of pathogenic coding variants in exceptionally long‐lived individuals and individuals without exceptional longevity
por: Gutman, Danielle, et al.
Publicado: (2020)

MicroRNA-Biogenesis and Pre-mRNA Splicing Crosstalk
por: Shomron, Noam, et al.
Publicado: (2009)

Versatility of MicroRNA Biogenesis
por: Volk, Naama, et al.
Publicado: (2011)

Genome-wide noninvasive prenatal diagnosis of monogenic disorders: Current and future trends
por: Rabinowitz, Tom, et al.
Publicado: (2020)

Analysis of MicroRNA Regulation and Gene Expression Variability in Single Cell Data
por: Liu, Wendao, et al.
Publicado: (2022)

Can RNA Affect Memory Modulation? Implications for PTSD Understanding and Treatment
por: Cohen, Tehila, et al.
Publicado: (2023)

Cannot write session to /tmp/vufind_sessions/sess_q05udctfld7hus05h6bvlh312j