Fatemeh Peymani,Tomohiro Ebihara,Dmitrii Smirnov et al.
Fatemeh Peymani et al.
Heterozygous missense mutations in MORC2 have been implicated in various clinical entities, ranging from early-onset neurodevelopmental disorders to late-onset neuropathies. The mechanism underlying the phenotypic heterogeneity and pleiotro...
FBXO22 deficiency defines a pleiotropic syndrome of growth restriction and multi-system anomalies associated with a unique epigenetic signature [0.03%]
FBXO22缺陷导致生长不良和多系统异常的综合征并具有独特的表观遗传特征
Navin B Ramakrishna,Umar Bin Mohamad Sahari,Yoshikazu Johmura et al.
Navin B Ramakrishna et al.
FBXO22 encodes an F-box protein, which acts as a substrate-recognition component of the SKP1-CUL1-F-box (SCF) E3 ubiquitin ligase complex. Despite its known roles in the post-translational ubiquitination and degradation of specific substrat...
TET3 downregulation and low 5-hydroxymethylcytosine are epigenetic signatures of head and neck carcinoma [0.03%]
TET3表达下调和低5-羟甲基胞嘧啶是头颈鳞癌的表观遗传标志
Jyoti Kanwar Shekhawat,Jyoti Sharma,Bikram Choudhury et al.
Jyoti Kanwar Shekhawat et al.
Background: Ten-eleven translocases (TETs) are enzymes responsible for demethylation processes, playing a crucial role in maintaining the body's methylation balance. Dysregulation of TET expression can lead to abnormal me...
Juho Kuula,Darina Czamara,Helena Hauta-Alus et al.
Juho Kuula et al.
Background: Globally, one in ten babies is born preterm (
Blood DNA Methylation Analysis Reveals a Distinctive Epigenetic Signature of Vasospasm in Aneurysmal Subarachnoid Hemorrhage [0.03%]
血DNA甲基化分析揭示了动脉瘤性蛛网膜下腔出血血管痉挛的特异性表观遗传特征
Isabel Fernández-Pérez,Joan Jiménez-Balado,Adrià Macias-Gómez et al.
Isabel Fernández-Pérez et al.
Vasospasm is a potentially preventable cause of poor prognosis in patients with aneurysmal subarachnoid hemorrhage (aSAH). Epigenetics might provide insight on its molecular mechanisms. We aimed to analyze the association between differenti...
Analysis of a pituitary tumour with histological features of central neurocytoma points towards the emergence of a new entity recognizable by a specific epigenetic signature [0.03%]
具有中枢神经细胞瘤组织学特征的垂体肿瘤的分析提示存在一种可通过特定表观遗传谱识别的新实体出现
Catherine Godfraind,Marie Coutelier,Daniel Pissaloux et al.
Catherine Godfraind et al.
Laurie A Dempsey
Laurie A Dempsey
Whole genome deconvolution unveils Alzheimer's resilient epigenetic signature [0.03%]
全基因组去卷积揭示了阿尔茨海默病的表观遗传特征签名
Eloise Berson,Anjali Sreenivas,Thanaphong Phongpreecha et al.
Eloise Berson et al.
Assay for Transposase Accessible Chromatin by sequencing (ATAC-seq) accurately depicts the chromatin regulatory state and altered mechanisms guiding gene expression in disease. However, bulk sequencing entangles information from different c...
Gerardo Alfonso Perez,Victor Delgado Martinez
Gerardo Alfonso Perez
Clear epigenetic signatures were found in hypertensive and pre-hypertensive patients using DNA methylation data and neural networks in a classification algorithm. It is shown how by selecting an appropriate subset of CpGs it is possible to ...
Long-read sequencing of diagnosis and post-therapy medulloblastoma reveals complex rearrangement patterns and epigenetic signatures [0.03%]
长读取测序发现诊断和治疗后髓母细胞瘤的复杂重组模式和表观遗传特征
Tobias Rausch,Rene Snajder,Adrien Leger et al.
Tobias Rausch et al.
Cancer genomes harbor a broad spectrum of structural variants (SVs) driving tumorigenesis, a relevant subset of which escape discovery using short-read sequencing. We employed Oxford Nanopore Technologies (ONT) long-read sequencing in a pai...
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