Effects of factor v Leiden polymorphism on the pathogenesis and outcomes of preeclampsia
Factor V Leiden polymorphism is a well-recognized genetic factor in the etiology of preeclampsia. Considering that Ghana is recording high incidence of preeclampsia, we examined if factor V Leiden is a contrib... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - November 27, 2019 Category: Genetics & Stem Cells Authors: G. K. Ababio, K. Adu-Bonsaffoh, E. Abindau, G. Narh, D. Tetteh, F. Botchway, D. Morvey, J. Neequaye and I. K. Quaye Tags: Research article Source Type: research
Association between lncRNA H19 rs217727 polymorphism and the risk of cancer: an updated meta-analysis
We have performed this study to evaluate the association between H19 rs217727 polymorphism and the risk of cancer. (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - November 21, 2019 Category: Genetics & Stem Cells Authors: Xue Wang, Jialing Zhong, Fang Chen, Kang Hu, Suhong Sun, Yuanxiu Leng, Xumei Chen, Fengjiao Gan, Yana Pan and Qing Luo Tags: Research article Source Type: research
Case report: two novel VPS13B mutations in a Chinese family with Cohen syndrome and hyperlinear palms
Cohen syndrome (CS) is an uncommon developmental disease with evident clinical heterogeneity. VPS13B is the only gene responsible for CS. Only few sporadic cases of CS have been reported in China. (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - November 21, 2019 Category: Genetics & Stem Cells Authors: Sha Zhao, Zhenqing Luo, Zhenghui Xiao, Liping Li, Rui Zhao, Yongjia Yang and Yan Zhong Tags: Case report Source Type: research
SIRT1 (rs3740051) role in pituitary adenoma development
Our purpose was to determine if SIRT1 (rs4746720, rs3740051) genotypes have an influence on the development of pituitary adenoma (PA). (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - November 20, 2019 Category: Genetics & Stem Cells Authors: Rasa Liutkeviciene, Alvita Vilkeviciute, Greta Morkunaite, Brigita Glebauskiene and Loresa Kriauciuniene Tags: Research article Source Type: research
Prevalence of CCR5delta32 in Northeastern Iran
A 32-base pair deletion ( ∆32) in the open reading frame (ORF) of C-C motif chemokine receptor 5 (CCR5) seems to be a protective variant against immune system diseases, especially human immunodeficiency virus type... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - November 15, 2019 Category: Genetics & Stem Cells Authors: Amir Tajbakhsh, Mostafa Fazeli, Mehdi Rezaee, Faezeh Ghasemi, Mastoureh Momen Heravi, Aida Gholoobi and Zahra Meshkat Tags: Research article Source Type: research
Genetic analysis of 62 Chinese families with Duchenne muscular dystrophy and strategies of prenatal diagnosis in a single center
Duchenne muscular dystrophy (DMD) is a severe X-linked recessive neuromuscular disorder. Patients with DMD usually have severe and fatal symptoms, including progressive irreversible muscle weakness and atrophy... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - November 14, 2019 Category: Genetics & Stem Cells Authors: Jingjing Zhang, Dingyuan Ma, Gang Liu, Yuguo Wang, An Liu, Li Li, Chunyu Luo, Ping Hu and Zhengfeng Xu Tags: Research article Source Type: research
Clinical and whole-exome sequencing findings in two siblings from Hani ethnic minority with congenital glycosylation disorders
PMM2-CDG, is the most common N-linked glycosylation disorder and subtype among all CDG syndromes, which are a series of genetic disorders involving the synthesis and attachment of glycoproteins and glycolipid ... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - November 14, 2019 Category: Genetics & Stem Cells Authors: Zhen Zhang, Ti-Long Huang, Jing Ma, Wen-Ji He and Huaiyu Gu Tags: Case report Source Type: research
Compound heterozygous LPIN2 pathogenic variants in a patient with Majeed syndrome with recurrent fever and severe neutropenia: case report
Majeed syndrome is a rare, autosomal recessive autoinflammatory disorder first described in 1989. The syndrome starts during infancy with recurrent relapses of osteomyelitis typically associated with fever, co... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - November 14, 2019 Category: Genetics & Stem Cells Authors: Jun Liu, Xu-Yun Hu, Zhi-Peng Zhao, Ruo-Lan Guo, Jun Guo, Wei Li, Chan-Juan Hao and Bao-Ping Xu Tags: Case report Source Type: research
Increased risk of aspirin-induced gastric mucosal erosion in elderly Chinese men harboring SLCO1B1*1b/*1b while using aspirin and an ACEI or ARB concomitantly
This study aimed to evaluate the relationship between SLCO... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - November 14, 2019 Category: Genetics & Stem Cells Authors: Lei Duan, Yongyi Bai, Man Li, Huiying Li, Yanping Li and Hongbin Liu Tags: Research article Source Type: research
Association of PD-1 polymorphisms with the risk and prognosis of lung adenocarcinoma in the northeastern Chinese Han population
Lung cancer is a leading cause of death from cancer worldwide, especially non-small cell lung cancer (NSCLC). The marker of progression in lung adenocarcinoma, the main type of NSCLC, has been rarely studied. ... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - November 12, 2019 Category: Genetics & Stem Cells Authors: Kun Huang, Erqiang Hu, Wan Li, Junjie Lv, Yuehan He, Gui Deng, Jinling Xiao, Chengcheng Yang, Xinyu Zhao, Lina Chen and Xinyan Wang Tags: Research article Source Type: research
Influence of oxytocin receptor single nucleotide sequence variants on contractility of human myometrium: an in vitro functional study
Oxytocin receptor (OXTR) gene variants have been shown to affect the prevalence of preterm birth, mode of delivery and oxytocin (OXT) requirements for labor induction and augmentation. We hypothesized that this m... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - November 12, 2019 Category: Genetics & Stem Cells Authors: F. F üeg, S. Santos, C. Haslinger, B. Stoiber, L. Schäffer, E. Grünblatt, R. Zimmermann and A. P. Simões-Wüst Tags: Research article Source Type: research
Genetic polymorphisms associated with sleep-related phenotypes; relationships with individual nocturnal symptoms of insomnia in the HUNT study
In recent years, several GWAS (genome wide association studies) of sleep-related traits have identified a number of SNPs (single nucleotides polymorphism) but their relationships with symptoms of insomnia are ... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - November 12, 2019 Category: Genetics & Stem Cells Authors: Daniela Bragantini, B ørge Sivertsen, Philip Gehrman, Stian Lydersen and Ismail Cüneyt Güzey Tags: Research article Source Type: research
Novel EIF2AK4 mutations in histologically proven pulmonary capillary hemangiomatosis and hereditary pulmonary arterial hypertension
Pulmonary hypertension (PH) remains one of the rarest and deadliest diseases. Pulmonary Capillary Hemangiomatosis (PCH) is one of the sub-classes of PH. It was identified using histological and molecular tools... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - November 11, 2019 Category: Genetics & Stem Cells Authors: Ossama K. Abou Hassan, Wiam Haidar, Mariam Arabi, Hadi Skouri, Fadi Bitar, Georges Nemer and Imad Bou Akl Tags: Research article Source Type: research
Cascade screening for familial hypercholesterolemia-identification of the C308Y mutation in multiple family members and relatives for the first time in mainland China
Familial hypercholesterolemia (FH), an autosomal dominant genetic disorder, is underdiagnosed and undertreated. The majority of FH cases are caused by low density lipoprotein receptor (LDL-R) gene mutations. The ... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - November 9, 2019 Category: Genetics & Stem Cells Authors: Weirong Jin, Qiuwang Zhang, Bei Wang, Lili Pan, Hongyou Qin, Daying Yang, Xiangqun Zhou, Yongcai Du, Ling Lin and Michael J. Kutryk Tags: Research article Source Type: research
A novel missense in GLI3 possibly affecting one of the zinc finger domains may lead to postaxial synpolydactyly: case report
Polydactyly is one of the most common congenital hand/foot malformations in humans. Mutations in GLI3 have been reported to cause syndromic and non-syndromic forms of preaxial and postaxial polydactylies. (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - November 9, 2019 Category: Genetics & Stem Cells Authors: Qianqian Zou, Zhigang Tian, Jie Zheng, Xiufang Zhi, Xiaojie Du, Jianbo Shu and Chunquan Cai Tags: Case report Source Type: research
