Genetics and Genomics of Chronic Pancreatitis with a Focus on Disease Biology and Molecular Pathogenesis [0.03%]
慢性胰腺炎的遗传学和基因组学：重点关注疾病生物学和分子发病机制
Erum Khan,Soura Chakrabarty,Sanobar Shariff et al.
Erum Khan et al.
Chronic pancreatitis is a long-term fibroinflammatory condition of the pancreas with varying incidences across countries. The recent increase in its occurrence implies the involvement of genetic, hereditary, and unconventional risk factors....
A Di Nora,G Pellino,A Di Mari et al.
A Di Nora et al.
In the clinical practice, it is not common for pediatricians to visit children with overgrowth phenotype. When it happens, it is important to focus on the age of manifestations and research the pathogenic causes using appropriate genetic te...
Mehran Radak,Hossein Fallahi
Mehran Radak
This review article discusses the epigenetic regulation of quiescent stem cells. Quiescent stem cells are a rare population of stem cells that remain in a state of cell cycle arrest until activated to proliferate and differentiate. The mole...
The Evaluation of Prognostic Value and Immune Characteristics of Ferroptosis-Related Genes in Lung Squamous Cell Carcinoma [0.03%]
铁死亡相关基因在肺鳞癌中的预后价值及免疫特征评估
Jialin Su,Shuhua Tan,Houwu Gong et al.
Jialin Su et al.
Background The purpose of our study was to construct a prognostic model based on ferroptosis-related gene signature to improve the prognosis prediction of lung squamous carcinoma (LUSC). Methods The mRNA expression profiles and clinical dat...
Primary Immune Thrombocytopenia in Pregnancy: Pathology, Diagnosis, and Management [0.03%]
妊娠期原发性免疫性血小板减少症的病理、诊断与治疗
Jiaying Liu,Lei Zhang
Jiaying Liu
The First Reported Case of a Child with Two Different Rare Metabolic Disorders: Very Long-Chain Acyl-CoA Dehydrogenase Deficiency and Encephalomyopathic Mitochondrial DNA Depletion Syndrome 13 [0.03%]
首例两种不同罕见代谢病患儿报道：长链酰基辅酶a脱氢酶缺乏症和脑肌病性线粒体DNA耗竭综合征13型
Maha Alotaibi,Amal Alqasmi,Faisal Albassam et al.
Maha Alotaibi et al.
One of the most common inborn errors in fatty acid β oxidation (FAO) is a very long-chain acyl-coenzyme A dehydrogenase (VLCAD) deficiency. It is autosomal recessive. The enzyme used in the first phase of FAO is VLCAD. The enzyme is respon...
Maria Cristina Inserra,Alessia Di Mari,Giulia Passaniti et al.
Maria Cristina Inserra et al.
Arterial tortuosity syndrome (ATS) is a very rare autosomal recessive disorder that affects the connective tissue. The incidence of ATS is not well known and to date only 106 patients have been described in the literature. ATS affects mediu...
Possible Role of Mitochondrial Transfer RNA Gene 5816 A > G Genetic Polymorphism (m.5816A > G) in a 3-Year-Old Child with Dystonia: Report of a Case [0.03%]
线粒体tRNA基因5816A＞G多态性与扭转痉挛的发病相关性分析——1例3岁患儿报告
Sumei Wang,Minglu Liang,Jiehui Ma et al.
Sumei Wang et al.
Background Mutations in the mitochondrial transfer RNA (mt-tRNA) gene are a hotspot for mitochondrial DNA (mtDNA) mutations and are most common in mitochondrial diseases. Methods We identified the mt-tRNA gene 5816 A > G (m.5816 A > G) muta...
Molecular Diagnosis of Hemophilia A and Pathogenesis of Novel F8 Variants in Shanxi, China [0.03%]
中国山西血友病A的分子诊断及新型F8突变体的发病机制
Xialin Zhang,Kun Chen,Sicheng Bian et al.
Xialin Zhang et al.
The aim of this study was to perform a molecular diagnosis of hemophilia A (HA) among patients in the Shanxi Province of China. Fifty-two HA patients were tested, including IVS22 (31 samples), IVS1 (3 samples), missense (11 samples), nonsen...
Lessons from Real Life Experience: Importance of In-House Sequencing and Smart Ratio-Based Real-Time PCR Outperform Multiplex Ligation-Dependent Probe Amplification in Prenatal Diagnosis for Spinal Muscular Atrophy: Bench to Bedside Diagnosis [0.03%]
脊髓性肌萎缩症产前诊断中基于智能定量的实时荧光PCR优于夹心连接依赖型探针扩增技术：从实验 bench 到病床 bedside 的体会与思考
Gulten Tuncel,Burcin Sanlıdag,Eray Dirik et al.
Gulten Tuncel et al.
Spinal muscular atrophy (SMA) is a rare, recessively inherited neurodegenerative disorder caused by the presence of pathogenic variants in the SMN gene. As it is the leading inherited cause of infant mortality, identification of SMN gene pa...