First detection of endopolyploidy in tapetal cells and chromosomal anomalies in meiocytes of Viola pilosa cytotypes (2 n=20) from Pir Panjal (Himalayas) [0.03%]
首次在喜马拉雅地区pirpanjal的Viola pilosa染色体类型（2n = 20）的小孢子母细胞中检测到染色体异常及绒毡层细胞多倍体现象
Tasir Iqbal,Geeta Sharma
Tasir Iqbal
The nine Viola pilosa Blume populations studied from Pir Panjal contained 20 chromosomes. This count is not reported so far in Indian populations. Currently, comparison of tapetal and meiotic cells revealed the existence of synchrony in dif...
Identification of a novel mutation in the HACD1 gene in an Iranian family with autosomal recessive congenital myopathy, with fibre-type disproportion [0.03%]
在患有常染色体隐性遗传先天性肌病（伴肌纤维类型比例失调）的伊朗家系中鉴定出HACD1基因的新突变
Neda Jabbarpour,Bita Poorshiri,Hassan Saei et al.
Neda Jabbarpour et al.
Congenital fibre-type disproportion (CFTD) with myopathy, is a genetically heterogeneous disease in which there is relative hypotrophy of type-1-muscle-fibres compared to type-2-fibres on skeletal muscle biopsy. The classical characteristic...
Case Reports
Journal of genetics. 2023:102:18. DOI: 2023
Individuals with T-786C and G894T genotypes of eNOS in Chinese Han population have an increased risk of developing rheumatoid arthritis [0.03%]
在中国汉族人群当中，T-786C和G894T型eNOS基因的携带者患类风湿性关节炎的风险较高
Shaopeng Lin,Daoqiang Lin,Linan Qiu et al.
Shaopeng Lin et al.
Several genetic polymorphisms in endothelial nitric oxide synthase (eNOS) are associated with the pathogenesis of rheumatoid arthritis (RA). This study explored the effect of eNOS gene polymorphism on genetic susceptibility of RA in Chinese...
Celiac disease-associated loci show considerable genetic overlap with neuropsychiatric diseases but with limited transethnic applicability [0.03%]
与精神神经疾病相关的无菌性肠道疾病位点显示出相当大的遗传相似性，但不同人种间的适用性有限
Nidhi Sharma,Pratibha Banerjee,Ajit Sood et al.
Nidhi Sharma et al.
Clinical and public health research has revealed the co-occurrence of several neuropsychiatric diseases among patients with celiac disease (CD). The significant presence of CD-specific autoantibodies in patients with neuropsychiatric diseas...
Imputation of SNPs associated with presbycusis through linkage disequilibrium analysis in the ILDR1 gene [0.03%]
基于ILDRI基因连锁不平衡分析的年龄相关听力减退易感SNPs的填充研究
Sergio V Flores,Alejandro Levi-Monsalve,Juan Pablo Alvarez-Lobo
Sergio V Flores
The single-nucleotide polymorphisms (SNP) ILDR1 rs2332035 has shown a high statistical association with presbycusis (hearing loss with age or age-related hearing impairment (ARHI)), according to genetic association studies in European popul...
A novel variant of TNNC1 associated with severe dilated cardiomyopathy causing infant mortality and stillbirth: a case of germline mosaicism [0.03%]
与严重扩张型心肌病相关的新型TNNC1变异导致婴儿死亡和死产：一种体细胞镶嵌病例
Rupa Udani,Kala F Schilter,Rebecca C Tyler et al.
Rupa Udani et al.
Pediatric cardiomyopathies (CM) are rare and challenging to diagnose due to the complex and mixed phenotypes. With the advent of next-generation sequencing (NGS), variants in several genes associated with CM have been identified, such as Tr...
Case Reports
Journal of genetics. 2023:102:14. DOI: 2023
Is the fundamental pathology in Duchenne's muscular dystrophy caused by a failure of glycogenolysis-glycolysis in costameres? [0.03%]
杜兴肌肉营养不良的基本病理变化由肌节中间带部位糖原分解-糖酵解功能的缺失引起吗？
Vishakha Nesari,Suresh Balakrishnan,Upendra Nongthomba
Vishakha Nesari
Duchenne muscular dystrophy (DMD) is the most common form of progressive childhood muscular dystrophy associated with weakness of limbs, loss of ambulation, heart weakness and early death. The mutations causing either loss-of-expression or ...
Relationship between leptin gene variants (-2548G>A and 19A>G) and obesity among north Indian Punjabi population [0.03%]
leptin基因(-2548G>A和19A>G)多态性与印度旁遮普人体肥胖的关系研究
Harjit Kaur,Veena Bains,Tanmayi Sharma et al.
Harjit Kaur et al.
Leptin is an adipocyte-secreted hormone which is involved in the regulation of food intake and energy expenditure. To ascertain the potential association between leptin gene (LEP) -2548G>A and 19A>G polymorphisms and obesity risk in the nor...
CRISPR-Cas9 F0 knockout approach using predesigned in vitro transcribed guide RNAs partially recapitulates Rx3 function in eye morphogenesis [0.03%]
基于预设计体外转录向导RNA的CRISPR-Cas9 F0基因敲除技术在部分重现Rx3基因在眼形态建成中的功能上的应用
Emilia Wysocka,Agata Gonicka,Savani Anbalagan
Emilia Wysocka
CRISPR-Cas9-based F0 knockout (KO) approach permits relatively simple and rapid generation of homozygous KOs and allows quick investigation of gene functions in zebrafish. However, F0 KO studies are largely performed using commercial synthe...
Diagnosis of prenatal 22q11.2 duplication syndrome: a two-case study [0.03%]
产前22q11.2重复综合征的诊断：两例报告研究
Hening Li,Yanfei Gong,Jingyi Chen et al.
Hening Li et al.
The objective of the study was to perform the prenatal diagnosis of two foetuses with 22q11.2 duplication for 2.5 Mb after noninvasive prenatal testing (NIPT), and to explore the prenatal diagnosis and genetic characteristics of these foetu...
Case Reports
Journal of genetics. 2023:102:4. DOI: 2023