Frontiers - Genetics
@FrontGenetics
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Research and updates from all @FrontiersIn journals in the field of genetics. #openaccess
Lausanne, Switzerland
Joined October 2011
#ASHG25 kicks off today. 📍 Booth #127 | Boston Come meet the Frontiers in Genetics team — let’s talk publishing, collaboration and open science. 👉 Connect early here: https://t.co/5DHRkTGZDP
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New Research: “Case report”: Whole-exome sequencing reveals compound heterozygous variants in the EIF2B5 gene in a familial case of vanishing white matter https://t.co/YlHDvsP31N
#FrontiersIn #Genetics
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Vanishing white matter (VWM) is a rare autosomal recessive leukodystrophy associated with pathogenic variants in any of the five genes (EIF2B1-5) that encode...
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New Research: Epigenetic repurposing of carbohydrate metabolic inhibitors for insulin resistance: targeting DNMT1 and HDAC3 for β-cell restoration https://t.co/6X6h0tN6pk
#FrontiersIn #Epigenetics #Epigenomics
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Insulin resistance, a global metabolic crisis affecting a substantial portion of the world’s population, involves complex metabolic-epigenetic crosstalk that...
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New Research: Prenatal diagnosis of Prader–Willi syndrome via maternal UPD15 with placental mosaicism: incidental discovery of fetal DMD carrier status https://t.co/7Ii2ra1V3O
#FrontiersIn #Genetics
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BackgroundPrader–Willi syndrome (PWS) represents a paradigm of genomic imprinting disorders. Given the severe lifelong complications of PWS, prenatal diagnos...
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New Research: Biallelic variants in the UTRN gene cause a novel form of multiple congenital arthrogryposis https://t.co/oPBwdZVHLC
#FrontiersIn #Genetics
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Arthrogryposis multiplex congenita (AMC) is a large group of congenital conditions characterized by joint contractures affecting two or more body areas. A pa...
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New Research: LDLRAD4 is a potential diagnostic and prognostic biomarker correlated with immune infiltration in myelodysplastic syndromes https://t.co/Gngjsv6hA6
#FrontiersIn #Genetics
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PurposeMyelodysplastic syndromes (MDS) are a group of hematological disorders that remain relatively under-explored, which are characterized by inconspicuous...
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New Research: From bench to bytes: a practical guide to RNA sequencing data analysis https://t.co/wydRGxnLjb
#FrontiersIn #Genetics
frontiersin.org
RNA sequencing (RNA-Seq) is a high-throughput sequencing approach that enables comprehensive quantification of transcriptomes at a genome-wide scale. As a re...
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New Research: Computational models for pan-cancer classification based on multi-omics data https://t.co/1VVUyK17nQ
#FrontiersIn #Genetics
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Tumor heterogeneity presents a significant challenge in cancer treatment, limiting the ability of clinicians to achieve accurate early-stage diagnoses and de...
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New Research: Comparative RNA-seq and functional assays identify L-arginine transporter SLC7A2 as a potential regulator of osteogenesis in maxillary sinus mucosal stem cells https://t.co/VHwHq6cvJU
#FrontiersIn #Genetics
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BackgroundThe osteogenic differentiation of maxillary sinus mucosal stem cells (MSMSCs) plays a critical role in maxillary sinus floor elevation, yet its und...
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New Research: De novo assembly and functional annotation of Henbit (Lamium amplexicaule) transcriptome https://t.co/mxm0MbSbBf
#FrontiersIn #Genetics
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Henbit, scientifically known as Lamium amplexicaule, is a winter annual weed from the Lamiaceae family, native to Europe, Asia, and North Africa. This plant ...
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New Research: Gene therapy for disorders of sex development: current applications and future challenges https://t.co/LWTTkem5yQ
#FrontiersIn #Genetics
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Disorders of sex development (DSD) represent a spectrum of congenital conditions where discrepancies exist between chromosomal, gonadal, or anatomical sex. R...
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New Research: Correction: Effectiveness of non-invasive chromosomal screening for normal karyotype and chromosomal rearrangements https://t.co/wqdfUr5f1Q
#FrontiersIn #Genetics
frontiersin.org
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New Research: Prenatal diagnosis of a de novo pathogenic HNRNPK variant in a Chinese fetus with abnormal ultrasound soft markers: a case report https://t.co/d1rwiUw9HM
#FrontiersIn #Genetics
frontiersin.org
BackgroundHeterozygous pathogenic variants in HNRNPK cause Au-Kline syndrome (AUKS), a neurodevelopmental disorder characterized by congenital anomalies and ...
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New Research: Identification and functional analysis of a novel CSNK2A1 frameshift variant in stillbirth https://t.co/vDEyzuL4T7
#FrontiersIn #Genetics
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BackgroundCasein Kinase II Subunit Alpha (CK2α), the catalytic subunit of protein kinase CK2, is encoded by CSNK2A1. This kinase catalyzes substrate phosphor...
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New Research: Identification of druggable targets in melanoma by multi-omics Mendelian randomization integrated with transcriptomic and spatial analysis https://t.co/Na9H6GYfQU
#FrontiersIn #Genetics
frontiersin.org
BackgroundCutaneous melanoma (CM) is a highly lethal skin tumor. Some patients respond poorly to existing therapies, and developing new targeted therapies re...
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New Research: Advances in RNA-based therapeutics: current breakthroughs, clinical translation, and future perspectives https://t.co/W9y61n3tLE
#FrontiersIn #Genetics
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RNA-based therapeutics have revolutionized modern medicine, offering versatile and precise modalities to modulate gene expression for a wide range of disease...
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New Research: Correction: Genome-wide association study of drought tolerance traits in sugar beet germplasms at the seedling stage https://t.co/HoX833an15
#FrontiersIn #Genetics
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Corrigendum on: Li W, Lin M, Li J, Liu D, Tan W, Yin X, Zhai Y, Zhou Y and Xing W (2023), Genome-wide association study of drought tolerance traits in sugar ...
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New Research: Case Report: Adenylosuccinate lyase deficiency type I caused by splicing disruption due to a novel missense variant in the ADSL gene https://t.co/0YWYaUivCL
#FrontiersIn #Genetics
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Adenylosuccinate lyase deficiency (ALD) is a rare neurometabolic disorder caused by biallelic loss-of-function variants in the ADSL gene. We report a severe ...
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New Research: Correction: Heat shock protein 27 phosphorylation state is associated with cancer progression https://t.co/Nwy7Cjw9H0
#FrontiersIn #Genetics
frontiersin.org
Correction Frontiers in Genetics 06 October 2014, Volume 5 - 2014
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New Research: aiGeneR 3.0: an enhanced deep network model for resistant strain identification and multi-drug resistance prediction in Escherichia coli causing urinary tract infection using next-generation sequencing data https://t.co/9Wb0MnhuWA
#FrontiersIn #Genetics
frontiersin.org
BackgroundInfectious diseases pose a global health threat, with antimicrobial resistance (AMR) exacerbating the issue. Considering Escherichia coli (E. coli)...
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New Research: Multi-omics identification and validation of oxidative phosphorylation–related hub genes in schizophrenia https://t.co/uomUhaj4KY
#FrontiersIn #Genetics
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IntroductionDysfunction in mitochondrial oxidative phosphorylation (OXPHOS) has been implicated in the pathophysiology of schizophrenia, yet its molecular un...
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