神经管畸形和颅面畸形是最常见的出生缺陷,由遗传和环境因素共同作用所致,大规模的人群流行病学研究已证实,叶酸能降低发生这类畸形的危险.叶酸缺乏是神经管和颅面畸形发生的主要环境因素,但其机制尚不清楚,通过对与叶酸代谢有关的还原叶酸载体(reduced folate carrier,RFC)的生化特点、生理功能、还原叶酸载体基因(RFC1)结构功能、调控、表达及其与叶酸水平和神经管颅面畸形的关系等研究进展进行综述,从而为神经管和颅面畸形的病因学研究提出可能的候选基因.国家重点基础研究发展计划(973计划)PubMed中文核心期刊要目总览(PKU)中国科学引文数据库(CSCD)02239-2432
<div><p>Background</p><p>Neural Tube Defects (NTDs) are among the most prevalent and most severe con...
BACKGROUND: Meningomyelocele (MM) results from lack of closure of the neural tube during embryologic...
Neural tube defects (NTDs) are complex congenital malformations resulting from failure of neural tub...
目的对神经管畸形(NTDs)发病危险和还原叶酸载体基因(RFC1)A80G多态性进行关联研究,为寻找NTDs的遗传易感标志物提供流行病学依据.方法采用RFLP-PCR方法,对104例NTDs儿及其父母...
神经管畸形是由遗传和环境因素共同作用而导致的一种常见的出生缺陷.遗传因素中包括细胞增殖因子、转录因子及影响叶酸代谢的关键酶的基因.本文着重从动物模型和群体流行病学调查两方面,简述目前研究的热点基因及特...
To study the reduced folate carrier gene (RFC1) A80G polymorphism and other factors influence on chi...
目的:研究同型半胱氨酸代谢相关酶中亚甲基四氢叶酸还原酶(MTHFR)基因的多态性与先天神经管缺陷发病的相关性.方法:采用病例对照研究的方法,以71例先天神经管缺陷的胎儿及新生患儿(疾病组)与140例无...
前言Introduction 近年来在发达国家和发展中国家的研究都已证实,怀孕早期妇女补充叶酸,可降低胎儿神经管畸形的发生率Recent studies in both developed and d...
Due to the character of the original source materials and the nature of batch digitization, quality ...
There is a considerable body of data demonstrating that periconceptional supplementation of folic ac...
目的探讨多种微量元素与神经管畸形的关系,及其他危险因素.方法采用1:1配比的病例对照研究方法,在&quot;中美出生缺陷监测系统&quot;中,募集新近发生的88对神经管畸形病例和对照...
Contains fulltext : 50079.pdf (publisher's version ) (Open Access)Neural-tube defe...
This study was designed to investigate whether the risk for neural tube defects (NTDs) was associate...
目的探讨神经管畸形(neural tube defects, NTDs)患儿还原叶酸载体基因(reduced folate carrier gene, RFC1)A80G多态性与母亲孕早期未增补叶酸之...
目的 探索母亲糖代谢相关基因的单核苷酸多态性与胎儿神经管畸形发病风险之间的关系.方法 采用病例对照研究方法.病例组为191名生育过无脑畸形、脊柱裂或脑膨出患儿的妇女;对照为按地区和末次月经日期1∶1匹...
<div><p>Background</p><p>Neural Tube Defects (NTDs) are among the most prevalent and most severe con...
BACKGROUND: Meningomyelocele (MM) results from lack of closure of the neural tube during embryologic...
Neural tube defects (NTDs) are complex congenital malformations resulting from failure of neural tub...
目的对神经管畸形(NTDs)发病危险和还原叶酸载体基因(RFC1)A80G多态性进行关联研究,为寻找NTDs的遗传易感标志物提供流行病学依据.方法采用RFLP-PCR方法,对104例NTDs儿及其父母...
神经管畸形是由遗传和环境因素共同作用而导致的一种常见的出生缺陷.遗传因素中包括细胞增殖因子、转录因子及影响叶酸代谢的关键酶的基因.本文着重从动物模型和群体流行病学调查两方面,简述目前研究的热点基因及特...
To study the reduced folate carrier gene (RFC1) A80G polymorphism and other factors influence on chi...
目的:研究同型半胱氨酸代谢相关酶中亚甲基四氢叶酸还原酶(MTHFR)基因的多态性与先天神经管缺陷发病的相关性.方法:采用病例对照研究的方法,以71例先天神经管缺陷的胎儿及新生患儿(疾病组)与140例无...
前言Introduction 近年来在发达国家和发展中国家的研究都已证实,怀孕早期妇女补充叶酸,可降低胎儿神经管畸形的发生率Recent studies in both developed and d...
Due to the character of the original source materials and the nature of batch digitization, quality ...
There is a considerable body of data demonstrating that periconceptional supplementation of folic ac...
目的探讨多种微量元素与神经管畸形的关系,及其他危险因素.方法采用1:1配比的病例对照研究方法,在&quot;中美出生缺陷监测系统&quot;中,募集新近发生的88对神经管畸形病例和对照...
Contains fulltext : 50079.pdf (publisher's version ) (Open Access)Neural-tube defe...
This study was designed to investigate whether the risk for neural tube defects (NTDs) was associate...
目的探讨神经管畸形(neural tube defects, NTDs)患儿还原叶酸载体基因(reduced folate carrier gene, RFC1)A80G多态性与母亲孕早期未增补叶酸之...
目的 探索母亲糖代谢相关基因的单核苷酸多态性与胎儿神经管畸形发病风险之间的关系.方法 采用病例对照研究方法.病例组为191名生育过无脑畸形、脊柱裂或脑膨出患儿的妇女;对照为按地区和末次月经日期1∶1匹...
<div><p>Background</p><p>Neural Tube Defects (NTDs) are among the most prevalent and most severe con...
BACKGROUND: Meningomyelocele (MM) results from lack of closure of the neural tube during embryologic...
Neural tube defects (NTDs) are complex congenital malformations resulting from failure of neural tub...