Identification of a Novel Intronic Mutation in VMA21 Associated with a Classical Form of X-Linked Myopathy with Autophagy [0.03%]
VMA21内新的内含子突变的鉴定与经典的X连锁自噬性肌病相关
Mainak Bardhan,Kiran Polavarapu,Dipti Baskar et al.
Mainak Bardhan et al.
Introduction VMA21 -related myopathy is one of the rare forms of slowly progressive myopathy observed in males. Till now, there have been only a handful of reports, mainly from Europe and America, and two reports from India. Method Here, we...
Analysis of Factors Affecting Hematopoietic Stem Cell Mobilization Efficiency and Early Hematopoietic Reconstruction Indicators during Autologous Peripheral Blood Hematopoietic Stem Cell Transplantation [0.03%]
自体外周血造血干细胞移植动员效果及早期造血重建相关因素分析
Hao Shi,Yaya Duan,Xinting Bu
Hao Shi
Purpose To analyze the factors affecting the mobilization efficiency of hematopoietic stem cells and hematopoietic reconstruction indicators during autologous peripheral hematopoietic stem cell transplantation. Methods The clinical data of ...
Prevalence and Associations of Co-occurrence of NFE2L2 Mutations and Chromosome 3q26 Amplification in Lung Cancer [0.03%]
肺鳞癌中NFE2L2突变与3q26拷贝数扩增共存情况的分析
Jinfeng Liu,Sijie Liu,Dan Li et al.
Jinfeng Liu et al.
Background NFE2L2 (nuclear factor erythroid-2-related factor-2) encodes a basic leucine zipper (bZIP) transcription factor and exhibits variations in various tumor types, including lung cancer. In this study, we comprehensively investigated...
Association between Serum Lactate Dehydrogenase Level and 30-day Mortality in Patients with Intracranial Hemorrhage with Acute Leukemia in the Induction Phase: A Cohort Study [0.03%]
急性白血病诱导期患者脑出血后30天内死亡率与乳酸脱氢酶水平相关的队列研究
Jia-Yuan Zhang,Zhang-Song Yan,Xiu-Juan Sun et al.
Jia-Yuan Zhang et al.
Objectives This study aimed to identify the association between lactate dehydrogenase (LDH) levels and 30-day mortality in patients with intracranial hemorrhage (ICH) with acute leukemia during the induction phase. Methods This cohort study...
Laboratory-developed Droplet Digital PCR Assay for Quantification of the JAK2 V617F Mutation [0.03%]
实验室开发的液滴数字PCR检测jak2 v617f突变的方法
Yupeng Liu,Cong Han,Jie Li et al.
Yupeng Liu et al.
Precise quantification of the JAK2 V617F mutation using highly sensitive assays is crucial for diagnosis, treatment process monitoring, and prognostic prediction in myeloproliferative neoplasms' (MPNs) patients. Digital droplet polymerase c...
CRISPR-Cas9 Gene Editing: Curing Genetic Diseases by Inherited Epigenetic Modifications [0.03%]
CRISPR-Cas9基因编辑：通过遗传性表观遗传修饰治愈遗传疾病
Nikhil Deep Kolanu
Nikhil Deep Kolanu
Introduction CRISPR-Cas9 gene editing, leveraging bacterial defense mechanisms, offers precise DNA modifications, holding promise in curing genetic diseases. This review critically assesses its potential, analyzing evidence on therapeutic a...
Patterns of Cytogenomic Findings from a Case Series of Recurrent Pregnancy Loss Provide Insight into the Extent of Genetic Defects Causing Miscarriages [0.03%]
一连串复发性流产病例的细胞基因组特征模式揭示了导致流产的遗传缺陷的程度
Autumn DiAdamo,Hongyan Chai,Mei Ling Chong et al.
Autumn DiAdamo et al.
Background A retrospective study was performed to evaluate the patterns of cytogenomic findings detected from a case series of products of conception (POC) in recurrent pregnancy loss (RPL) over a 16-year period from 2007 to 2023. Results T...
Maternal Uniparental Isodisomy of Chromosome 2 Leading to Homozygous Variants in SPR and ZNF142 : A Case Report and Review of the UPD2 Literature [0.03%]
染色体2母系单亲二倍体导致SPR和ZNF142纯合变异：一例报道及UPD2文献综述
Janhawi Kelkar,Miriam DiMaio,Deqiong Ma et al.
Janhawi Kelkar et al.
We report a 4-year-old girl with neurodevelopmental abnormalities who has maternal uniparental isodisomy of chromosome 2 leading to homozygosity for a likely pathogenic variant in SPR , and a variant of uncertain significance in ZNF142 . Bi...
The Relationship between VDR Gene Polymorphisms Bsm1 and Apa1 with Breast Cancer Risk [0.03%]
VDR基因多态性Bsm1和Apa1与乳腺癌风险的关系
Hengameh Mozaffarizadeh,Fariborz Mokarian,Mansoor Salehi et al.
Hengameh Mozaffarizadeh et al.
Background In addition to its multifaceted physiological functions, vitamin D is recognized for its protective role against cancer. To manifest its effects, vitamin D engages with the vitamin D receptor ( VDR ) gene responsible for its enco...
Genetic Modifications of Developmental Dyslexia and Its Representation Using In Vivo, In Vitro Model [0.03%]
发育性诵读困难的遗传修饰及其在体内和体外模型中的表达形式
Zakiyyah M M Zaki,Siti A Ali,Mazira M Ghazali et al.
Zakiyyah M M Zaki et al.
Dyslexia is a genetic and heritable disorder that has yet to discover the treatment of it, especially at the molecular and drug intervention levels. This review provides an overview of the current findings on the environmental and genetic f...