journal
https://read.qxmd.com/read/37745862/establishing-induced-pluripotent-stem-cell-lines-from-two-dominant-optic-atrophy-patients-with-distinct-opa1-mutations-and-clinical-pathologies
#1
JOURNAL ARTICLE
Katherine A Pohl, Xiangmei Zhang, Anh H Pham, Jane W Chan, Alfredo A Sadun, Xian-Jie Yang
Dominant optic atrophy (DOA) is an inherited disease that leads to the loss of retinal ganglion cells (RGCs), the projection neurons that relay visual information from the retina to the brain through the optic nerve. The majority of DOA cases can be attributed to mutations in optic atrophy 1 ( OPA1 ), a nuclear gene encoding a mitochondrial-targeted protein that plays important roles in maintaining mitochondrial structure, dynamics, and bioenergetics. Although OPA1 is ubiquitously expressed in all human tissues, RGCs appear to be the primary cell type affected by OPA1 mutations...
2023: Frontiers in Genetics
https://read.qxmd.com/read/37745861/editorial-biomedical-application-of-dna-modifications
#2
EDITORIAL
Fengbiao Mao, Husile Baiyin, Jinchen Li, Xiao Chen, Yungang Xu, Chenqi Wang, Chang Li
No abstract text is available yet for this article.
2023: Frontiers in Genetics
https://read.qxmd.com/read/37745860/characterization-and-therapeutic-perspectives-of-differentiation-inducing-therapy-in-malignant-tumors
#3
REVIEW
Kangwei Zhu, Yuren Xia, Xindi Tian, Yuchao He, Jun Zhou, Ruyu Han, Hua Guo, Tianqiang Song, Lu Chen, Xiangdong Tian
Cancer is a major public health issue globally and is one of the leading causes of death. Although available treatments improve the survival rate of some cases, many advanced tumors are insensitive to these treatments. Cancer cell differentiation reverts the malignant phenotype to its original state and may even induce differentiation into cell types found in other tissues. Leveraging differentiation-inducing therapy in high-grade tumor masses offers a less aggressive strategy to curb tumor progression and heightens chemotherapy sensitivity...
2023: Frontiers in Genetics
https://read.qxmd.com/read/37745859/case-report-genetic-analysis-of-a-novel-frameshift-mutation-in-fmr1-gene-in-a-chinese-family
#4
Chunlei Jin, Xiangdong Zhang, Qiang Lei, Penglong Chen, Hui Hu, Shuangshuang Shen, Jiao Liu, Shixuanbao Ye
Fragile X syndrome (FXS) [OMIM 300624] is a common X-linked inherited syndrome with an incidence only second to that of trisomy 21. More than 95% of fragile X syndrome is caused by reduced or absent fragile X intellectual disability protein 1 (FMRP) synthesis due to dynamic mutation expansion of the CGG triplet repeat in the 5'UTR and abnormal methylation of the FMR1 (fragile X messenger ribonucleoprotein 1) gene [OMIM 309550]. Less than 5% of cases are caused by abnormal function of the FMRP due to point mutations or deletions in the FMR1 gene...
2023: Frontiers in Genetics
https://read.qxmd.com/read/37745858/insights-into-the-physiological-molecular-and-genetic-regulators-of-albinism-in-camellia-sinensis-leaves
#5
JOURNAL ARTICLE
Yang Zhao, Peidi Yang, Yang Cheng, Yong Liu, Yang Yang, Zhen Liu
Introduction: Yanling Yinbiancha, a cultivar of Camellia sinensis (L.) O. Kuntze, is an evergreen woody perennial with characteristic albino leaves. A mutant variant with green leaves on branches has been recently identified. The molecular mechanisms underlying this color variation remain unknown. Methods: We aimed to utilize omics tools to decipher the molecular basis for this color variation, with the ultimate goal of enhancing existing germplasm and utilizing it in future breeding programs. Results and discussion: Albinotic leaves exhibited significant chloroplast degeneration and reduced carotenoid accumulation...
2023: Frontiers in Genetics
https://read.qxmd.com/read/37745857/exome-sequencing-improves-genetic-diagnosis-of-congenital-orofacial-clefts
#6
JOURNAL ARTICLE
Shujuan Yan, Fang Fu, Ru Li, Qiuxia Yu, Fucheng Li, Hang Zhou, You Wang, Ruibin Huang, Chunling Ma, Fei Guo, Dan Wang, Xin Yang, Jin Han, Tingyin Lei, Dongzhi Li, Can Liao
Objective: This retrospective study aims to evaluate the utility of exome sequencing (ES) in identifying genetic causes of congenital orofacial clefts (OFCs) in fetuses with or without other structural abnormalities, and to further explore congenital OFCs genetic causes. Methods: The study enrolled 107 singleton pregnancies diagnosed with fetal OFCs between January 2016 and May 2022, and categorized them into two groups: isolated cleft lip and/or palate (CL/CP) and syndromic CL/CP. Cases with positive karyotyping and chromosomal microarray analysis results were excluded...
2023: Frontiers in Genetics
https://read.qxmd.com/read/37745856/comprehensive-analysis-of-mitophagy-related-genes-in-diagnosis-and-heterogeneous-endothelial-cells-in-chronic-rhinosinusitis-based-on-bulk-and-single-cell-rna-sequencing-data
#7
JOURNAL ARTICLE
Shican Zhou, Kai Fan, Ju Lai, Shiwang Tan, Zimu Zhang, Jingwen Li, Xiayue Xu, Chunyan Yao, BoJin Long, Chuanliang Zhao, Shaoqing Yu
Background: Chronic rhinosinusitis (CRS) is a complex inflammatory disorder affecting the nasal and paranasal sinuses. Mitophagy, the process of selective mitochondrial degradation via autophagy, is crucial for maintaining cellular balance. However, the role of mitophagy in CRS is not well-studied. This research aims to examine the role of mitophagy-related genes (MRGs) in CRS, with a particular focus on the heterogeneity of endothelial cells (ECs). Methods: We employed both bulk and single-cell RNA sequencing data to investigate the role of MRGs in CRS...
2023: Frontiers in Genetics
https://read.qxmd.com/read/37745855/-de-novo-sequencing-assembly-and-characterization-of-asparagus-racemosus-transcriptome-and-analysis-of-expression-profile-of-genes-involved-in-the-flavonoid-biosynthesis-pathway
#8
JOURNAL ARTICLE
Chanchal Malik, Sudhanshu Dwivedi, Tilahun Rabuma, Ravinder Kumar, Nitesh Singh, Anil Kumar, Rajesh Yogi, Vinod Chhokar
Asparagus racemosus is known for its diverse content of secondary metabolites, i.e., saponins, alkaloids, and a wide range of flavonoids. Flavonoids, including phenols and polyphenols, have a significant role in plant physiology and are synthesized in several tissues. Despite the diverse role of flavonoids, genetic information is limited for flavonoid biosynthesis pathways in A. racemosus . The current study explores full-scale functional genomics information of A. racemosus by de novo transcriptome sequencing using Illumina paired-end sequencing technology to elucidate the genes involved in flavonoid biosynthesis pathways...
2023: Frontiers in Genetics
https://read.qxmd.com/read/37745854/combination-of-trio-based-whole-exome-sequencing-and-optical-genome-mapping-reveals-a-cryptic-balanced-translocation-that-causes-unbalanced-chromosomal-rearrangements-in-a-family-with-multiple-anomalies
#9
Min Xie, Jiangyang Xue, Yuxin Zhang, Ying Zhou, Qi Yu, Haibo Li, Qiong Li
Background: Balanced translocation (BT) carriers can produce imbalanced gametes and experience recurrent spontaneous abortions (RSAs) and even give birth to a child with complex chromosomal disorders. Here, we report a cryptic BT, t(5; 6) (p15.31; p25.1), in the proband's grandmother, which caused unbalanced chromosomal rearrangements and various anomalies in the two subsequent generations. We also provide a thorough overview of the application of optical genome mapping (OGM) to identify chromosomal structural variants (SVs)...
2023: Frontiers in Genetics
https://read.qxmd.com/read/37745853/a-review-of-machine-learning-models-applied-to-genomic-prediction-in-animal-breeding
#10
REVIEW
Narjice Chafai, Ichrak Hayah, Isidore Houaga, Bouabid Badaoui
The advent of modern genotyping technologies has revolutionized genomic selection in animal breeding. Large marker datasets have shown several drawbacks for traditional genomic prediction methods in terms of flexibility, accuracy, and computational power. Recently, the application of machine learning models in animal breeding has gained a lot of interest due to their tremendous flexibility and their ability to capture patterns in large noisy datasets. Here, we present a general overview of a handful of machine learning algorithms and their application in genomic prediction to provide a meta-picture of their performance in genomic estimated breeding values estimation, genotype imputation, and feature selection...
2023: Frontiers in Genetics
https://read.qxmd.com/read/37745852/editorial-recent-advances-in-genetic-and-proteomic-biomarkers-involved-in-the-early-detection-of-solid-tumors
#11
EDITORIAL
Jitian Li, Apeng Chen, Ruowen Zhang, Changwei Li, Jian-Guo Zhou, Bin Fang, Yinan Jiang
No abstract text is available yet for this article.
2023: Frontiers in Genetics
https://read.qxmd.com/read/37745851/identification-of-potential-key-variants-in-mandibular-premolar-hypodontia-through-whole-exome-sequencing
#12
JOURNAL ARTICLE
Shinyeop Lee, Hyunsoo Ahn, Hyeonhye Kim, Kwanghwan Lee, Sanguk Kim, Jae Hoon Lee
Determining genotype-phenotype correlations in patients with hypodontia is important for understanding disease pathogenesis, although only a few studies have elucidated it. We aimed to identify genetic variants linked to non-syndromic bilateral mandibular second premolar hypodontia in a Korean population for the first time by specifying the phenotype of hypodontia. Twenty unrelated individuals with non-syndromic bilateral mandibular second premolar hypodontia were enrolled for whole-exome sequencing. Using a tooth agenesis gene set panel consisting of 112 genes based on literature, potential candidate variants were screened through variant filtering and prioritization...
2023: Frontiers in Genetics
https://read.qxmd.com/read/37745850/non-syndromic-enlarged-vestibular-aqueduct-caused-by-novel-compound-mutations-of-the-slc26a4-gene-a-case-report-and-literature-review
#13
Yunhua Huang, Linlin Li, Liqiu Pan, Xiaoting Ling, Chenghan Wang, Chaoyu Huang, Yifang Huang
Enlarged vestibular aqueduct is an autosomal genetic disease mainly caused by mutations in the SLC26A4 gene and includes non-syndromic and syndromic types. This study aimed to identify genetic defects in a Chinese patient with non-syndromic enlarged vestibular aqueduct (NSEVA) and to investigate the impact of variants on the severity of non-syndromic enlarged vestibular aqueduct. A male patient with NSEVA, aged approximately 6 years, was recruited for this study. The clinical characteristics and results of auxiliary examinations, including laboratory and imaging examinations, were collected, and 127 common hereditary deafness genes were detected by chip capture high-throughput sequencing...
2023: Frontiers in Genetics
https://read.qxmd.com/read/37745849/maternal-body-fluid-lncrnas-serve-as-biomarkers-to-diagnose-ventricular-septal-defect-from-amniotic-fluid-to-plasma
#14
JOURNAL ARTICLE
Huaming Wang, Xi Lin, Xinda Wang, Xinxiu Liu, Shaozheng He, Guorong Lyu
Background: Maternal body fluids contain abundant cell-free fetal RNAs which have the potential to serve as indicators of fetal development and pathophysiological conditions. In this context, this study aimed to explore the potential diagnostic value of maternal circulating long non-coding RNAs (lncRNAs) in ventricular septal defect (VSD). Methods: The potential of lncRNAs as non-invasive prenatal biomarkers for VSD was evaluated using quantitative polymerase chain reaction (qPCR) and receiver operating characteristic (ROC) curve analysis...
2023: Frontiers in Genetics
https://read.qxmd.com/read/37745848/editorial-data-intensive-medicine-and-healthcare-ethical-and-social-implications-in-the-era-of-artificial-intelligence-and-automated-decision-making
#15
EDITORIAL
Aviad Raz, Jusaku Minari, Silke Schicktanz, Tamar Sharon, Gabriele Werner-Felmayer
No abstract text is available yet for this article.
2023: Frontiers in Genetics
https://read.qxmd.com/read/37745847/identification-and-validation-of-disulfidptosis-associated-molecular-clusters-in-non-alcoholic-fatty-liver-disease
#16
JOURNAL ARTICLE
Xiaoxiao Yu, Zihao Guo, Zhihao Fang, Kai Yang, Changxu Liu, Zhichao Dong, Chang Liu
Objective: Non-alcoholic fatty liver disease (NAFLD) is the most prevalent liver disease in the world, and its pathogenesis is not fully understood. Disulfidptosis is the most recently reported form of cell death and may be associated with NAFLD progression. Our study aimed to explore the molecular clusters associated with disulfidptosis in NAFLD and to construct a predictive model. Methods: First, we analyzed the expression profile of the disulfidptosis regulators and immune characteristics in NAFLD. Using 104 NAFLD samples, we investigated molecular clusters based on differentially expressed disulfidptosis-related genes, along with the related immune cell infiltration...
2023: Frontiers in Genetics
https://read.qxmd.com/read/37745846/mbmethpred-a-computational-framework-for-the-accurate-classification-of-childhood-medulloblastoma-subgroups-using-data-integration-and-ai-based-approaches
#17
JOURNAL ARTICLE
Edris Sharif Rahmani, Ankita Lawarde, Prakash Lingasamy, Sergio Vela Moreno, Andres Salumets, Vijayachitra Modhukur
Childhood medulloblastoma is a malignant form of brain tumor that is widely classified into four subgroups based on molecular and genetic characteristics. Accurate classification of these subgroups is crucial for appropriate treatment, monitoring plans, and targeted therapies. However, misclassification between groups 3 and 4 is common. To address this issue, an AI-based R package called MBMethPred was developed based on DNA methylation and gene expression profiles of 763 medulloblastoma samples to classify subgroups using machine learning and neural network models...
2023: Frontiers in Genetics
https://read.qxmd.com/read/37745845/intra-fcy1-a-novel-system-to-identify-mutations-that-cause-protein-misfolding
#18
JOURNAL ARTICLE
N Quan, Y Eguchi, K Geiler-Samerotte
Protein misfolding is a common intracellular occurrence. Most mutations to coding sequences increase the propensity of the encoded protein to misfold. These misfolded molecules can have devastating effects on cells. Despite the importance of protein misfolding in human disease and protein evolution, there are fundamental questions that remain unanswered, such as, which mutations cause the most misfolding? These questions are difficult to answer partially because we lack high-throughput methods to compare the destabilizing effects of different mutations...
2023: Frontiers in Genetics
https://read.qxmd.com/read/37745844/case-report-identification-of-one-frameshift-variant-and-two-in-cis-non-canonical-splice-variants-of-neb-gene-in-prenatal-arthrogryposis
#19
Yuefang Liu, Juan Xu, Qiaoyi Lv, Zhe Liang, Lingling Li, Qiong Pan
NEB mutation is associated with congenital nemaline myopathies. Here, we report a family with recurrent prenatal arthrogryposis. Trio whole exome sequencing (WES) disclosed three novel NEB (NM_001271208.2) variants including one paternal frameshift c.19049_19050delCA (p.Thr6350Argfs*14) and two double maternal variants in cis c. [24871G>T;24871-10C>G] (p. [Val8291Phe;?]). They are evaluated as "likely pathogenic (LP)", "variant of uncertain of significance (VUS)", and "VUS", respectively. After further prediction, the c...
2023: Frontiers in Genetics
https://read.qxmd.com/read/37745843/long-chain-noncoding-rna-sequencing-analysis-reveals-the-molecular-profiles-of-chemically-induced-mammary-epithelial-cells
#20
JOURNAL ARTICLE
Mengzhen Wei, Wenkui Tang, Danwei Lv, Mingxing Liu, Guodong Wang, Quanhui Liu, Liangshan Qin, Ben Huang, Dandan Zhang
Long noncoding RNAs (lncRNAs) were important regulators affecting the cellular reprogramming process. Previous studies from our group have demonstrated that small molecule compounds can induce goat ear fibroblasts to reprogram into mammary epithelial cells with lactation function. In this study, we used lncRNA-Sequencing (lncRNA-seq) to analyze the lncRNA expression profile of cells before and after reprogramming (CK vs. 5i8 d). The results showed that a total of 3,970 candidate differential lncRNAs were detected, 1,170 annotated and 2,800 new lncRNAs...
2023: Frontiers in Genetics
journal
journal
43579
1
2
Fetch more papers »
Fetching more papers... Fetching...
Remove bar
Read by QxMD icon Read
×

Save your favorite articles in one place with a free QxMD account.

×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"

We want to hear from doctors like you!

Take a second to answer a survey question.