Adult index patient with Currarino syndrome due to a novel HLXB9 mutation, c.336dupG (p.P113fsX224), presenting with Hirschsprung's disease, cephalgia, and lumbodynia [0.03%]
成人Currarino综合征指数患者，由于HLXB9的新突变c.336dupG（p.P113fsX224）出现霍奇金病，头颅痛和躯体痛
Alexander Volk,Mohsen Karbasiyan,Alexander Semmler et al.
Alexander Volk et al.
Background: The symptom triad of autosomal dominant Currarino syndrome (CS; MIM #176450) consists of anorectal malformation, a sacral bone defect, and presacral masses. Mutations in the homeoboxHLXB9 gene have already bee...
Platelet-derived growth factor C plays a role in the branchial arch malformations induced by retinoic acid [0.03%]
血小板源性生长因子C参与了视黄酸诱导的咽弓畸形形成的作用
Jing Han,Li Li,Zhaofeng Zhang et al.
Jing Han et al.
Background: All-trans-retinoic acid (RA) can produce branchial arch abnormalities in postimplantation rodent embryos cultured in vitro. Platelet-derived growth factor C (PDGF-C) was recently identified as a member of the ...
Exposure of neural crest cells to elevated glucose leads to congenital heart defects, an effect that can be prevented by N-acetylcysteine [0.03%]
高糖暴露导致神经嵴细胞发生先天性心脏病并可通过 N-乙酰半胱氨酸预防
Pauline A M Roest,Liesbeth van Iperen,Shirley Vis et al.
Pauline A M Roest et al.
Background: Diabetes mellitus during pregnancy increases the risk for congenital heart disease in the offspring. The majority of the cardiovascular malformations occur in the outflow tract and pharyngeal arch arteries, wh...
Mouse mutants with neural tube closure defects and their role in understanding human neural tube defects [0.03%]
神经管缺陷小鼠突变体及其在研究人类神经管缺陷中的作用
Muriel J Harris,Diana M Juriloff
Muriel J Harris
Background: The number of mouse mutants and strains with neural tube closure defects (NTDs) now exceeds 190, including 155 involving known genes, 33 with unidentified genes, and eight "multifactorial" strains. ...
Molecular profiles of mitogen activated protein kinase signaling pathways in orofacial development [0.03%]
口腔面部发育中MAPK信号通路的分子特征分析
Saurabh Singh,Xiaolong Yin,M Michele Pisano et al.
Saurabh Singh et al.
Background: Formation of the mammalian orofacial region involves multiple signaling pathways regulating sequential expression of and interaction between molecular signals during embryogenesis. The present study examined t...
George P Daston
George P Daston
Reduction in orofacial clefts following folic acid fortification of the U.S. grain supply [0.03%]
美国粮食强化叶酸后唇腭裂减少
Mahsa M Yazdy,Margaret A Honein,Jian Xing
Mahsa M Yazdy
Background: Folic acid fortification in the United States became mandatory January 1, 1998, to reduce the occurrence of neural tube defects (NTDs). We evaluated the impact of folic acid fortification on orofacial clefts u...
Rhabdomyomatous hamartomata of the pharyngeal region with bilateral microtia and aural atresia: a new association? [0.03%]
咽部横纹肌母细胞样错构瘤伴双侧小耳畸形和外耳道闭锁：一个新的临床征候群？
Margaret P Adam,Carlos R Abramowsky,April N Brady et al.
Margaret P Adam et al.
Background: Bilateral microtia with aural atresia is rare. Rhabdomyomatous hamartomata containing salivary tissue, situated bilaterally and symmetrically simulating the palatine (faucial) tonsils, has apparently not been ...
Infant C677T MTHFR polymorphism and severe mental retardation [0.03%]
婴儿型MTHFR C677T多态性与智力残疾严重度的关系研究
Gary M Shaw,Laura Jelliffe-Pawlowski,Verne Nelson et al.
Gary M Shaw et al.
Background: We investigated whether infants with homozygous genotype TT of the MTHFR gene were at increased risk of severe mental retardation. Methods: ...
Screening for novel PAX3 polymorphisms and risks of spina bifida [0.03%]
筛查新的PAX3多态性及无脑畸形和脊柱裂的患病风险研究
Wei Lu,Huiping Zhu,Shu Wen et al.
Wei Lu et al.
Background: PAX3 plays an important role in mammalian embryonic development. Known mutations in PAX3 are etiologically associated with Waardenburg syndrome and syndromic neural tube defects (NTDs). Mutations in the murine...