Assessment of the contribution of VDR and VDBP/GC genes in the pathogenesis of celiac disease [0.03%]
评估维生素D受体和维生素D结合蛋白基因在克罗恩病发病机制中的作用
Pratibha Banerjee,Harinder Singh,Priyanka Tiwari et al.
Pratibha Banerjee et al.
Vitamin-D deficiency (VDD) is a global health concern. It is known to play a critical role in the immunomodulation, and thus, its metabolism could be investigated to unravel its contribution in common immune-mediated diseases, e.g., celiac ...
A novel intron variant in the prolactin gene associated with eggshell weight and thickness with putative alternative splicing patterns in chickens [0.03%]
一个新的与鸡蛋重量和厚度相关的催乳素基因内含子变异及其潜在的鸡选择性拼接模式
Dhafer A Ali,Nihad Abdul-Lateef Ali,Thamer R S Aljubouri et al.
Dhafer A Ali et al.
Raising Iraqi indigenous chickens (IIC) is restricted by their thin and low eggshell weights. Due to the importance of the prolactin (Prl) gene in regulating a wide range of egg production traits, this study assessed the potential genetic p...
Germline genetic variants in a case of familial cancer: RAD51D and four other co-segregated variants [0.03%]
一例家族性肿瘤的生殖细胞遗传变异分析：RAD51D及其它四个顺式共分离变异
Shristi Biswas,Swati Manekar,Shehnaz Kantharia et al.
Shristi Biswas et al.
Cancer is a multifactorial, multi-step process of pathogenesis; however, in the case of familial cancers, genetic aetiology can play a significant role. Identifying genetic variants in cancer patients having a strong family history of cance...
Case Reports
Journal of genetics. 2024:103:31. DOI: 2024
Association study of common KLF1 variants with Hb F and Hb A2 levels in β-thalassaemia carriers of Portuguese ancestry [0.03%]
葡萄牙血统β-地中海贫血患者中KLF1常见变异与Hb F和Hb A2水平关联研究
Licínio Manco,Celeste Bento,Luís Relvas et al.
Licínio Manco et al.
Kruppel-like factor 1 (KLF1) is an essential erythroid-specific transcription factor. Several reports have shown that KLF1 gene mutations are associated with increased levels of Hb F and Hb A2. However, scarce population studies have analys...
A novel missense variant in PNLDC1 associated with nonobstructive azoospermia [0.03%]
PNLDC1新型错义变异与非梗阻性无精子症相关性研究
Mouness Rahimian,Masomeh Askari,Najmeh Salehi et al.
Mouness Rahimian et al.
The most severe type of male infertility is nonobstructive azoospermia (NOA), where there is no sperm in the ejaculate due to failure of spermatogenesis. The predictable frequency of NOA in the general population is one in 100 men. Genetic ...
miR-7160 inhibits gastric cancer cell proliferation and metastasis by silencing SIX1 [0.03%]
microRNA-miR-7160通过抑制SIX1基因表达来抑制胃癌细胞的增殖和转移
Meng Meng,Guoxin Guan,Xingming Liu et al.
Meng Meng et al.
Upregulation of homeoprotein SIX1 in gastric cancer (GC) is related to tumour proliferation and invasion. MicroRNA-7160 (miR-7160) is a homeoprotein SIX1-targeting miRNA that downregulates miR-7160, leading to cancer development. Total gast...
COQ7 splice site variant causing a spastic paraparesis phenotype in siblings [0.03%]
COQ7剪切位点变异导致兄弟姐妹共济失调性下肢瘫痪表型
Haseena Sait,Manmohan Pandey,Shubha R Phadke
Haseena Sait
The COQ7 gene is one of the causative genes for primary COQ10 deficiency-related disorders. OMIM-related phenotypes include severe encephalo-myo-nephrocardiopathy and distal hereditary motor neuronopathy. In the present study, we performed ...
Case Reports
Journal of genetics. 2024:103:26. DOI: 2024
Expanding the genetic and phenotypic spectrum of Baker-Gordon syndrome: a new de novo SYT1 variant [0.03%]
扩展Baker-Gordon综合征的基因型-表型谱系：一个新的SYT1新发变异导致的病例报告
Francisco Javier Cotrina-Vinagre,María Elena Rodríguez-García,Lucía Del Pozo-Filíu et al.
Francisco Javier Cotrina-Vinagre et al.
We report the case of a Spanish pediatric patient with developmental delay, hypotonia, feeding difficulties, visual problems, and hyperkinetic movements. Whole-exome sequencing uncovered a new heterozygous de novo Synaptotagmin 1 (SYT1) mis...
Case Reports
Journal of genetics. 2024:103:24. DOI: 2024
Detection of caudal type homeobox 1 (CDX1) gene methylated DNA,as a stool-based diagnostic biomarker in colorectal cancer [0.03%]
结直肠癌检测：尾型同源框1(CDX1)基因甲基化DNA作为粪便标志物的诊断分子标记物研究
Sarina Almasi,Lida Haghnazari,Seyedeh Ozra Hosseini et al.
Sarina Almasi et al.
Colorectal cancer (CRC) is known to develop due to the accumulation of both genetic and epigenetic alterations, resulting in the conversion of intestinal epithelial cells to malignant adenocarcinoma cells. Caudal type homeobox 1 (CDX1) gene...
A global evaluation of mitochondrial DNA diversity and distribution of dromedary, Camelus dromedarius from north-central Saudi Arabia [0.03%]
评估沙特阿拉伯中部地区的单峰骆驼(Camelus dromedarius)线粒体DNA多样性及分布情况
Fevzi Bardakci,Abdelmuhsin Abdelgadir,Md Jahoor Alam et al.
Fevzi Bardakci et al.
Knowledge of genetic variability within and among types and breeds of dromedary (Camelus dromedarius L.) can be a valuable asset in selective breeding of desirable characteristics and will shed light on their origin, dynamics of domesticati...