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Specialty: Genetics & Stem Cells
Source: Molecular Genetics & Genomic Medicine

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Total 20 results found since Jan 2013.

Effect of gene –gene and gene–environment interaction on the risk of first‐ever stroke and poststroke death
ConclusionsOur findings identified two novel genetic interactions ofVKORC1 andChr.9p21.3 and ofVEGFA andKDR for risk of stroke and subtypes as well as future stroke prognosis.
Source: Molecular Genetics & Genomic Medicine - July 9, 2019 Category: Genetics & Stem Cells Authors: Congrui Feng, Yunyun Yang, Shujun Yang, Xin Tu, Yibo Wang, Yiqing Song, Rutai Hui, Weili Zhang Tags: ORIGINAL ARTICLE Source Type: research

Association between K469E polymorphism of ICAM ‐1 gene and susceptibility of ischemic stroke: An updated meta‐analysis
ConclusionK469E polymorphism of ICAM ‐1 gene might be a risk factor for ischemic stroke in Caucasians, which suggested that K469E polymorphism might help in early identification of those at risk and help in primary prevention of ischemic stroke.
Source: Molecular Genetics & Genomic Medicine - June 2, 2019 Category: Genetics & Stem Cells Authors: Gaurav Nepal, Jayant Kumar Yadav, YuHui Kong Tags: ORIGINAL ARTICLE Source Type: research

Associations of intercellular adhesion molecule ‐1 rs5498 polymorphism with ischemic stroke: A meta‐analysis
ConclusionsOur findings indicated that rs5498 polymorphism was significantly associated with individual susceptibility to IS in Caucasians, but not in Asians.
Source: Molecular Genetics & Genomic Medicine - April 16, 2019 Category: Genetics & Stem Cells Authors: Hua Gao, Xinhua Zhang Tags: ORIGINAL ARTICLE Source Type: research

A novel CACNA1A variant in a child with early stroke and intractable epilepsy
ConclusionWe present the second case of recurrent ischemic strokes in a patient withCACNA1A mutation. Our findings expand the phenotypic heterogeneity related to Cav2.1 (P/Q‐type) calcium channel dysfunction and suggest consideration ofCACNA1A disorder in evaluation of pediatric strokes.
Source: Molecular Genetics & Genomic Medicine - July 20, 2020 Category: Genetics & Stem Cells Authors: Franciska J. Gudenkauf, Mahshid S. Azamian, Jill V. Hunter, Anuranjita Nayak, Seema R. Lalani Tags: CLINICAL REPORT Source Type: research

SOD3 overexpression alleviates cerebral ischemia ‐reperfusion injury in rats
ConclusionOur results indicated that MSCs transfected withSOD3 can effectively alleviate cerebral ischemia ‐reperfusion injury in rats.
Source: Molecular Genetics & Genomic Medicine - August 27, 2019 Category: Genetics & Stem Cells Authors: Shuaiqi Sun, Ning Gao, Xiqi Hu, Han Luo, Jun Peng, Ying Xia Tags: ORIGINAL ARTICLE Source Type: research

Natural course of Fabry disease with the p. Arg227Ter (p.R227*) mutation in Finland: Fast study
ConclusionCardiac involvement should be effectively detected in females before considering them asymptomatic mutation carriers.
Source: Molecular Genetics & Genomic Medicine - August 13, 2019 Category: Genetics & Stem Cells Authors: P äivi Pietilä‐Effati, Jukka T. Saarinen, Eliisa Löyttyniemi, Reijo Autio, Maria Saarenhovi, Maria K. Haanpää, Ilkka Kantola Tags: ORIGINAL ARTICLE Source Type: research

Molecular and neurological features of MELAS syndrome in paediatric patients: A case series and review of the literature
ConclusionThe threshold for investigating MELAS syndrome in children with suspicious neurological symptoms should be low. If blood m.3243A>G analysis is negative, yet clinical suspicion remains high, invasive testing or further interrogation of the mitochondrial genome should be considered.
Source: Molecular Genetics & Genomic Medicine - April 27, 2022 Category: Genetics & Stem Cells Authors: Lydia M. Seed, Andrew Dean, Deepa Krishnakumar, Poe Phyu, Rita Horvath, Pooja Devi Harijan Tags: ORIGINAL ARTICLE Source Type: research

Association study between genetic polymorphisms in folate metabolism and gastric cancer susceptibility in Chinese Han population: A case –control study
ConclusionThis study suggested that MTR andMTHFRpolymorphisms may contribute to increase the risk of GC.
Source: Molecular Genetics & Genomic Medicine - March 17, 2019 Category: Genetics & Stem Cells Authors: Lusha Wei, Fanglin Niu, Jiamin Wu, Fulin Chen, Hua Yang, Jing Li, Tianbo Jin, Yifei Wu Tags: ORIGINAL ARTICLE Source Type: research

Interaction between a haptoglobin genetic variant and coronary artery disease (CAD) risk factors on CAD severity in Singaporean Chinese population
ConclusionHP genetic variant is not associated with CAD severity and mortality in the general population. However, hypertensive individuals with the rs217181 T allele associated with higher Hp levels had more severe CAD while non ‐hypertensive individuals with the same allele had lower risk for mortality in the Chinese population.
Source: Molecular Genetics & Genomic Medicine - August 12, 2020 Category: Genetics & Stem Cells Authors: Xuling Chang, Rajkumar Dorajoo, Yi Han, Ling Wang, Jianjun Liu, Chiea ‐Chuen Khor, Adrian F. Low, Mark Yan‐Yee Chan, Jian‐Min Yuan, Woon‐Puay Koh, Yechiel Friedlander, Chew‐Kiat Heng Tags: ORIGINAL ARTICLE Source Type: research

Association of MMP1 and MMP3 haplotypes with myocardial infarction and echocardiographic parameters of the left ventricle
ConclusionMMP1 andMMP3 haplotypes are strongly associated with MI. Further studies are needed to validate this result and to examine their association with echocardiographic parameters of LV structure and function after MI.
Source: Molecular Genetics & Genomic Medicine - August 1, 2022 Category: Genetics & Stem Cells Authors: Tamara Djuric, Jovana Kuveljic, Ana Djordjevic, Milica Dekleva, Goran Stankovic, Aleksandra Stankovic, Maja Zivkovic Tags: ORIGINAL ARTICLE Source Type: research

Report of two pedigrees with heterozygous  HTRA1 variants‐related cerebral small vessel disease and literature review
ConclusionThese findings broaden the known mutational spectrum and possible clinical phenotype ofHTRA1. Considering the semidominant characteristics ofHTRA1-related phenotypes, we recommend that all members ofHTRA1 variant families undergo genetic screening and clinical follow-up if carrying pathogenic variants.
Source: Molecular Genetics & Genomic Medicine - August 10, 2022 Category: Genetics & Stem Cells Authors: Hui Zhou, Bin Jiao, Ziyu Ouyang, Qihui Wu, Lu Shen, Liangjuan Fang Tags: ORIGINAL ARTICLE Source Type: research

Constitutional de novo and postzygotic mutations in isolated cases of cerebral cavernous malformations
ConclusionOur data demonstrate that de novo mutations in CCM1‐3 might be more frequent than previously thought. Furthermore, amplicon deep sequencing is useful to discriminate between patients with constitutional and postzygotic mutations, and thereby improves genetic counseling. We here present a series of six trios with de novo mutations in CCM1, CCM2, or CCM3 that have been analyzed by amplicon deep sequencing to differentiate between constitutional and postzygotic mutations. Our data demonstrate that de novo mutations in CCM1‐3 might be more frequent than previously thought. Furthermore, amplicon deep sequencing i...
Source: Molecular Genetics & Genomic Medicine - October 31, 2016 Category: Genetics & Stem Cells Authors: Matthias Rath, Stefanie Spiegler, Neetika Nath, Konrad Schwefel, Nataliya Di Donato, Johannes Gerber, G. Christoph Korenke, Yorck Hellenbroich, Ute Hehr, Stephanie Gross, Ulrich Sure, Barbara Zoll, Eberhard Gilberg, Lars Kaderali, Ute Felbor Tags: Original Article Source Type: research

Familial aortic disease and a large duplication in chromosome 16p13.1
ConclusionsThe cosegregation of duplication 16p13.1 with the aortic phenotype in this family suggested a causal relationship between the duplication and aortic disease. Variants in known candidate genes were excluded as disease‐causing in this family, but cosegregating variants in other genes might modify the contribution of duplication 16p13.1 on aortic disease. A recurrent duplication of chromosome 16p13.1 was associated with aortic and cervical artery dissection. We explore the segregation of this duplication in a family with familial aortic disease.
Source: Molecular Genetics & Genomic Medicine - February 14, 2018 Category: Genetics & Stem Cells Authors: Philipp Erhart, Tobias Brandt, Beate K. Straub, Ingrid Hausser, Sabine Hentze, Dittmar B öckler, Caspar Grond‐Ginsbach Tags: CLINICAL REPORT Source Type: research

Bilateral striatal necrosis due to homoplasmic mitochondrial 3697G > A mutation presents with incomplete penetrance and sex bias
ConclusionHomoplasmic m.3697G>A mutation could be associated with BSN, which expanded the clinical spectrum of m.3697G>A. Our preliminary investigations had not found the underlying modifiers to support the double hit hypothesis, while the high level of estrogens in the female patients might exert a potential compensatory effect on mutant cell metabolism.
Source: Molecular Genetics & Genomic Medicine - January 8, 2019 Category: Genetics & Stem Cells Authors: Shanshan Zhong, Shumeng Wen, Yusen Qiu, Yanyan Yu, Ling Xin, Yang He, Xuguang Gao, Hezhi Fang, Daojun Hong, Jun Zhang Tags: ORIGINAL ARTICLE Source Type: research

Association study of genetic variations of inflammatory biomarkers with susceptibility and severity of obstructive sleep apnea
ConclusionsOur study indicated that functional variants of inflammatory biomarkers could cause the occurrence of OSA and influence the severity of OSA. These findings further support that inflammatory cytokines were closely related to the occurrence and development of OSA.
Source: Molecular Genetics & Genomic Medicine - June 17, 2019 Category: Genetics & Stem Cells Authors: Zeming Zhang, Qiubo Wang, Baoyuan Chen, Yancun Wang, Yafang Miao, Li Han Tags: ORIGINAL ARTICLE Source Type: research