Unlocking the epigenetic code: future Frontiers in predictive biomarkers for intellectual disability in fragile X syndrome [0.03%]
解开表观遗传密码：预测脆性X综合征智力障碍生物标志物的未来方向
Hanan Ali Alatawi,Jayda G Eldiasty
Hanan Ali Alatawi
Fragile X Syndrome (FXS) remains the leading inherited cause of intellectual disability (ID), yet the classic CGG repeat expansion on the Fragile X Messenger Ribonucleoprotein 1 (FMR1) gene often fails to provide a precise prognostic map fo...
Mitochondrial dysfunction, metabolic quiescence and premature senescence in CMT4B3 fibroblasts [0.03%]
CMT4B3成纤维细胞中的线粒体功能障碍、代谢静止和衰老前置现象
Paola Zanfardino,Alessandro Amati,Sharon Cox et al.
Paola Zanfardino et al.
Charcot-Marie-Tooth disease type 4B3 (CMT4B3) is an ultra-rare autosomal recessive neuropathy caused by mutations in the MTMR5/SBF1 gene. In this study, we characterized dermal fibroblasts derived from a patient carrying compound-heterozygo...
CRISPR/dCas9-mediated tuning of DMPK transcription reveals a quantitative relationship between toxic repeat RNA expression and MBNL1 activity in myotonic dystrophy [0.03%]
基于CRISPR/dCas9的DMPK转录调节揭示了致病性重复RNA表达与肌萎缩蛋白水平之间的定量关系
Lise Ripken,Thomas D Hoekman,Marieke Willemse et al.
Lise Ripken et al.
Myotonic dystrophy type 1 (DM1) is caused by (CUG)n-expanded DMPK transcripts that sequester the splicing factor MBNL1 in the nucleus, resulting in widespread splicing abnormalities. Although significant progress has been made in understand...
Zebrafish knockout models of atxn1a, atxn1b, and atxn1l reveal distinct and shared phenotypic and transcriptomic alterations [0.03%]
atxn1a、atxn1b 和 atxn1l 带来的斑马鱼敲除模型揭示了不同且共有的表型和转录组变化
Anwarul Karim,Pramuk Keerthisinghe,Sreeja Sarasamma et al.
Anwarul Karim et al.
Spinocerebellar ataxia type 1 is a progressive neurodegenerative disorder caused by polyglutamine expansion in ATXN1, yet the normal physiological roles of ATXN1 and its paralog ATXN1L remain incompletely understood. To define these roles, ...
PONG 2.0: allele imputation for the killer cell immunoglobulin-like receptors [0.03%]
PONG 2.0：天然杀伤细胞免疫球蛋白样受体等位基因补充工具
Suraju A Sadeeq,Laura A Leaton,Katherine M Kichula et al.
Suraju A Sadeeq et al.
Killer cell immunoglobulin-like receptors (KIRs) are polymorphic immune regulators that modulate natural killer and T cell responses via interactions with human leukocyte antigen (HLA) class I ligands. High combinatorial diversity of KIR an...
Suppressive genetic interactions between haploinsufficient mitochondrial genes encoded in the 22q11.2 microdeletion locus define brain and cardiac phenotypes [0.03%]
22q11.2微缺失位点中线粒体基因剂量不足的抑制性遗传相互作用定义了脑和心脏表型
Meghan Wynne,Stephanie A Zlatic,Austin S Park et al.
Meghan Wynne et al.
Genomic copy number variations, such as the 22q11.2 microdeletion syndrome, cause pleiotropic disorders that affect diverse organ systems and disrupt neurodevelopment. Deletions of the 22q11.2 locus reduce the dosage of up to 46 protein cod...
Mucolipidosis II: novel variants, clinical variation and assessment of HAP1 cells as a disease model [0.03%]
黏脂贮积病Ⅱ型：新型变异、临床变异及HAP1细胞系作为疾病模型的评估
Noura R Eissa,Ghada M Abdel-Salam,Marcelina Kretkiewicz et al.
Noura R Eissa et al.
Mucolipidosis type II is an autosomal recessive lysosomal storage disease resulting from biallelic variants in the GNPTAB gene encoding the N-acetylglucosamine phosphotransferase α/β subunits. Deficiency of this enzyme disrupts the mannos...
CoCoRV-nf: a powerful and cost-effective tool for rare variant analysis leveraging external biobank sequence data identified new candidate predisposition genes in amyotrophic lateral sclerosis and neuroblastoma [0.03%]
利用外部生物银行序列数据进行罕见变异分析的强大的低成本工具CoCoRV-nf可识别出新的候选易感基因，用于肌萎缩侧索硬化和神经母细胞病的研究
Saima Sultana Tithi,Johnathan Cooper-Knock,Michael Benatar et al.
Saima Sultana Tithi et al.
Although sequencing costs have steadily decreased with advances in technology, they remain high for large scale studies. The design of traditional individual-disease sequencing studies is either case only or cases with relatively few contro...
A patient-derived mouse model reproduces molecular, neurological, and sleep symptoms of SHINE syndrome [0.03%]
一个患者来源的小鼠模型再现了SHINE综合征的分子、神经学和睡眠症状
Sharon Tamir,Jiffin Paulose,Anh Nguyen et al.
Sharon Tamir et al.
SHINE syndrome is a rare neurodevelopmental disorder caused by mutations in DLG4, which encodes the postsynaptic scaffolding protein PSD-95. Key symptoms include sleep problems, hypotonia, intellectual disability, neurological disorders, an...
The potential regulatory relationship between hsa_circ_0000973 and MBOAT2 in hypertriglyceridemia with abnormal glucose metabolism [0.03%]
hsa_circ_0000973与MBOAT2在高甘油三酯血症合并糖代谢异常中的潜在调控关系研究
Fengdan Wang,Yixue Yang,Xiaotong Li et al.
Fengdan Wang et al.
Hypertriglyceridemia (HTG) frequently occurs in population with abnormal glucose metabolism (AGM), exacerbating risk. In our preliminary researches, we have screened hsa_circ_0000973 and MBOAT2 as the possible regulatory elements of HTG in ...