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...
Association of polymorphisms of HSD11B1 and ACE genes with trachoma disease [0.03%]
HSD11B1和ACE基因多态性与沙眼的关系研究
Laura L Valdez-Velazquez,Héctor Ochoa-Díaz-López,Iván Delgado-Enciso et al.
Laura L Valdez-Velazquez et al.
Trachoma, caused by Chlamydia trachomatis, is the most common infectious blindness in the world and is present in indigenous Mayan from Chiapas (Mexico). Inflammatory genes are activated when suffering from trachoma, thus some polymorphisms...
Extraction of genomic DNA for sequencing from snail Helix lucorum [0.03%]
来自蜗牛Helix lucorum的测序基因组DNA的提取
Dmitry Panteleev,Anastasia Sadova,Galina Pavlova
Dmitry Panteleev
Genomic studies make it possible to breakthrough in many fields such as biochemistry, physiology, phylogenetics, etc., though they are unworkable without sequences of genomic DNA of an organism. The terrestrial mollusks’ genomes would bene...
Case Reports
Journal of genetics. 2024:103:20. DOI: 2024
Wei-Liang Liu,Fang Li,Lu Liu et al.
Wei-Liang Liu et al.
In the past, there were no easily distinct and recognizable features as a guide for precise clinical and genetic diagnosis of cases with chromosome microdeletions involving 15q26 including CHD2,. The present study analysed the clinical data...
Case Reports
Journal of genetics. 2024:103:21. DOI: 2024
Mitogenome features and phylogenetic analysis of red algae, Grateloupia cornea (Rhodophyta, Halymeniales) [0.03%]
Grateloupia cornea（Rhodophyta，Halymeniales）的线粒体基因组特征及系统发育分析
Maheshkumar Prakash Patil,Young-Ryun Kim,Shinya Nakashita et al.
Maheshkumar Prakash Patil et al.
The mitogenome is an important tool for taxonomic and evolutionary investigation. Here, a few complete mitogenomes of red algae have been reported. We have reported the complete mitogenome sequences of Grateloupia cornea Okamura, 1913 (Rhod...
The first complete mitochondrial genome of the critically endangered Malaysian giant turtle, Orlitia borneensis (Testudines: Geoemydidae) [0.03%]
马来西亚濒危巨龟奥氏弹涂龟的第一个完整线粒体基因组序列(Testudines: Geoemydidae)
Mohd Hairul Mohd Salleh,Yuzine Esa
Mohd Hairul Mohd Salleh
We present here the complete mitochondrial sequence of the critically endangered Malaysian giant turtle, Orlitia borneensis. The assembled mitochondrial genome includes 13 protein-coding genes (PCGs), 22 transfer RNA (tRNA) genes, two ribos...
Foetal haemoglobin elevation, unfavourable prognosis, and protective role of genetic variants HBG2 rs7482144, HBS1L-MYB rs9399137 and BCL11A rs4671393 in children with ALL [0.03%]
胎儿血红蛋白升高、不良预后及其基因多态性HBG2 rs7482144、HBS1L-MYB rs9399137和BCL11A rs4671393在中国儿童急性淋巴细胞白血病中的保护作用
Francisco Javier Borrayo-LóPez,Bertha Ibarra-Cortés,FranciscoJavier Perea-Díaz et al.
Francisco Javier Borrayo-LóPez et al.
In acute lymphoblastic leukaemia (ALL), elevated foetal haemoglobin (HbF) levels have been associated with the prognosis of patients. Genetic variants in HbF regulatory genes: BAF chromatin remodelling complex subunit (BCL11A), HBS1L-MYB tr...