Congenital anomalies最新文献

筛选
英文 中文
Defective Myosin Genes in Mutant Mice and Human Diseases 突变小鼠和人类疾病中肌球蛋白基因缺陷
Congenital anomalies Pub Date : 1999-09-01 DOI: 10.1111/j.1741-4520.1999.tb00555.x
S. Yonezawa, S. Masaki, T. Ono, A. Hanai, T. Kageyama, A. Moriyama, S. Sonta
{"title":"Defective Myosin Genes in Mutant Mice and Human Diseases","authors":"S. Yonezawa, S. Masaki, T. Ono, A. Hanai, T. Kageyama, A. Moriyama, S. Sonta","doi":"10.1111/j.1741-4520.1999.tb00555.x","DOIUrl":"https://doi.org/10.1111/j.1741-4520.1999.tb00555.x","url":null,"abstract":"Myosins are highly divergent actin‐based molecular motors. In five of eight classes expressed in mammals, defects in genes have been identified in mutant mice and/or human diseases. A mutated myosin II‐7 gene is one of the causes of human familial hypertrophic cardiomyopathy (FHC). The defective myosin Va gene is responsible for Griscelli disease, which is characterized by partial albinism and immunodeficiency, while in its mouse homologue coat color dilution is seen with or without neurological defects. There are three classes of myosins, VI, VII and XV, that are essential in the inner ear function. In humans, mutations in the VIIa gene are associated with three deafness‐related diseases, Usher 1B/DFNB2/DFNA11, providing the first example of exhibition of recessive‐ and dominant‐inherited disorders by different mutations in a single myosin gene.","PeriodicalId":93953,"journal":{"name":"Congenital anomalies","volume":"92 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"1999-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"74238895","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Program 程序
Congenital anomalies Pub Date : 1999-09-01 DOI: 10.1111/j.1741-4520.1999.tb00558.x
T.
{"title":"Program","authors":"T.","doi":"10.1111/j.1741-4520.1999.tb00558.x","DOIUrl":"https://doi.org/10.1111/j.1741-4520.1999.tb00558.x","url":null,"abstract":"","PeriodicalId":93953,"journal":{"name":"Congenital anomalies","volume":"222 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"1999-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"81018193","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
The 39th Annual Meeting of the Japanese Teratology Society, Kagoshima, July 14‐16, 1999 第39届日本畸形学会年会,鹿儿岛,1999年7月14 - 16日
Congenital anomalies Pub Date : 1999-09-01 DOI: 10.1111/j.1741-4520.1999.tb00557.x
{"title":"The 39th Annual Meeting of the Japanese Teratology Society, Kagoshima, July 14‐16, 1999","authors":"","doi":"10.1111/j.1741-4520.1999.tb00557.x","DOIUrl":"https://doi.org/10.1111/j.1741-4520.1999.tb00557.x","url":null,"abstract":"","PeriodicalId":93953,"journal":{"name":"Congenital anomalies","volume":"14 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"1999-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"85798984","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
A Population‐based Case‐Control Teratological Study of Three Parenteral Penicillins G 基于人群的三种静脉注射青霉素的病例对照致畸研究
Congenital anomalies Pub Date : 1999-09-01 DOI: 10.1111/j.1741-4520.1999.tb00556.x
Andrew E. Czeizel, M. Rockenbauer, Henrik T Sørensen, Jørn Olsen
{"title":"A Population‐based Case‐Control Teratological Study of Three Parenteral Penicillins G","authors":"Andrew E. Czeizel, M. Rockenbauer, Henrik T Sørensen, Jørn Olsen","doi":"10.1111/j.1741-4520.1999.tb00556.x","DOIUrl":"https://doi.org/10.1111/j.1741-4520.1999.tb00556.x","url":null,"abstract":"The purpose of the study was to check the human teratogenic potential of three penicillins G: parenteral treatments with benzylpenicillin, benzylpenicillin‐procaine, and benzylpenicillin + benzylpenicillin‐procaine during pregnancy in the population‐based dataset of the Hungarian Case‐Control Surveillance of Congenital Abnormalities, 1980–1996. Of 38,151 pregnant women who had babies without any defects (population control group), 303 (0.8%) were treated with penicillin G. Of 22,865 pregnant women who had offspring with congenital abnormalities, 236 (1.O%) were treated with penicillin G (crude OR with 95% CI = 1.3, 1.1–1.5). Of 812 mothers who deliveried babies affected with Down syndrome (patient controls), 15 (1.8%) had penicillin G treatment, and this rate exceeded significantly the figure of both the case and population control groups. This finding needs further studies. The case‐control pair analysis did not indicate a teratogenic risk of three parenteral penicillin G treatments during the second‐third months of gestation, i.e., in the critical period for major congenital abnormalities. The lower use of penicillins G was explained mainly by recall bias in the population control group. Thus, parenteral penicillin G treatments during pregnancy do not present a detectable teratogenic risk to the fetus.","PeriodicalId":93953,"journal":{"name":"Congenital anomalies","volume":"4 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"1999-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"84072073","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 5
Anomalies of Cartilaginous and Ossified Axial Skeleton in Rat Fetuses Treated with Cyclophosphamide : Type, Frequency, and Stage Specificity 环磷酰胺治疗大鼠胎儿的软骨和骨化轴骨异常:类型、频率和阶段特异性
Congenital anomalies Pub Date : 1998-03-31 DOI: 10.11501/3164419
永喜 五十嵐
{"title":"Anomalies of Cartilaginous and Ossified Axial Skeleton in Rat Fetuses Treated with Cyclophosphamide : Type, Frequency, and Stage Specificity","authors":"永喜 五十嵐","doi":"10.11501/3164419","DOIUrl":"https://doi.org/10.11501/3164419","url":null,"abstract":"","PeriodicalId":93953,"journal":{"name":"Congenital anomalies","volume":"204 1","pages":"39-55"},"PeriodicalIF":0.0,"publicationDate":"1998-03-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"73541295","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Carrier Diagnosis of Duchenne Muscular Dystrophy Using Fluorescent CA Repeat Polymorphism 应用荧光CA重复多态性诊断杜氏肌萎缩症携带者
Congenital anomalies Pub Date : 1997-12-01 DOI: 10.1111/j.1741-4520.1997.tb00978.x
Yoshiko Shiroshita, S. Katayama
{"title":"Carrier Diagnosis of Duchenne Muscular Dystrophy Using Fluorescent CA Repeat Polymorphism","authors":"Yoshiko Shiroshita, S. Katayama","doi":"10.1111/j.1741-4520.1997.tb00978.x","DOIUrl":"https://doi.org/10.1111/j.1741-4520.1997.tb00978.x","url":null,"abstract":"The diagnostic efficacy was compared between the fluorescent CA repeat polymorphism analysis and polymerase chain reaction‐restriction fragment length polymorphism (PCR‐RFLP) analysis for carrier diagnosis of Duchenne muscular dystrophy. Nine females from seven pedigrees were examined. Polymorphic alleles were examined by the fluorescent labelling method in eight loci within the dystrophin gene. PCR‐RFLP analysis was performed in a total of six loci within the dystrophin gene. Carrier diagnosis could not be made in three females of two pedigrees due to an inability to detect polymorphic alleles by PCR‐RFLP. In contrast, CA repeat polymorphism analysis allowed successful carrier diagnosis in nine subjects. These findings suggest that the fluorescent CA repeat polymorphism analysis provides a simple, safe and effective alternative to PCR‐RFLP analysis for carrier diagnosis of Duchenne muscular dystrophy.","PeriodicalId":93953,"journal":{"name":"Congenital anomalies","volume":"16 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"1997-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"82555886","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Program 程序
Congenital anomalies Pub Date : 1997-12-01 DOI: 10.1111/j.1741-4520.1997.tb00980.x
A. Hakuba, K., Shiota
{"title":"Program","authors":"A. Hakuba, K., Shiota","doi":"10.1111/j.1741-4520.1997.tb00980.x","DOIUrl":"https://doi.org/10.1111/j.1741-4520.1997.tb00980.x","url":null,"abstract":"","PeriodicalId":93953,"journal":{"name":"Congenital anomalies","volume":"35 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"1997-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"81224948","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Effects of Glutathione and Related Compounds on Teratogenicity of 5‐Fluorouracil or Cadmium Hydrochloride in Mice * 谷胱甘肽及相关化合物对5 -氟尿嘧啶或盐酸镉致畸小鼠的影响*
Congenital anomalies Pub Date : 1997-12-01 DOI: 10.1111/j.1741-4520.1997.tb00977.x
M. Naya, M. Yasuda
{"title":"Effects of Glutathione and Related Compounds on Teratogenicity of 5‐Fluorouracil or Cadmium Hydrochloride in Mice *","authors":"M. Naya, M. Yasuda","doi":"10.1111/j.1741-4520.1997.tb00977.x","DOIUrl":"https://doi.org/10.1111/j.1741-4520.1997.tb00977.x","url":null,"abstract":"Glutathione (GSH) is a tripeptide consisting of cysteine, glutamic acid and glycine, and plays an important role in detoxification reactions. In this report, we describe (1) the effects of the depleting agents of GSH such as diethylmaleate (DEM), phorone, and buthionine sulfoximine (BSO) on teratogenicity of 5‐fluorouracil (5‐FU) in mice, (2) the effects of GSH or N‐acetyl‐L‐cysteine (NAC), a precursor of GSH on teratogenicity of 5‐FU or cadmium hydrochloride (Cd) in mice. Pregnant ICR mice were injected intra‐peritoneally (i.p.) with 5‐FU at dose levels of 20, 25, and 30 mg/kg on day 11 of gestation (vaginal plug = day 0). Mice were injected i.p. with DEM, phorone, or BSO 4 to 6 hours before dosing with 5‐FU. Mice were also pretreated intravenously (i.v.) with GSH at dose levels of 150, 300 and 600 mg/kg, or NAC at dose levels of 80, 160, and 320 mg/kg 0.5 to 2 hours before dosing with 5‐FU. In the Cd‐teratogenicity study, mice were injected i.v. with GSH or NAC before dosing with Cd at 3.5 mg/kg i.p. on day 11 of gestation. Pretreatment with DEM, phorone or BSO increased the incidence of oligodactyly induced by 5‐FU, while pretreatment with GSH or NAC decreased the incidences. Pretreatment with GSH or NAC decreased the incidence of cleft palate and abnormal palatal rugae induced by Cd. The results suggest that cysteine plays a key role in the teratogenicity of 5‐FU or Cd in mice.","PeriodicalId":93953,"journal":{"name":"Congenital anomalies","volume":"30 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"1997-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"89088560","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 3
PROCEEDINGS OF THE 5TH SCIENTIFIC MEETING OF THE INTERNATIONAL FEDERATION OF TERATOLOGY SOCIETIES 国际畸形学会联合会第五届科学会议论文集
Congenital anomalies Pub Date : 1997-12-01 DOI: 10.1111/j.1741-4520.1997.tb00979.x
M. Edwards, Murray Smith, B. Stewart, F. Atkinson
{"title":"PROCEEDINGS OF THE 5TH SCIENTIFIC MEETING OF THE INTERNATIONAL FEDERATION OF TERATOLOGY SOCIETIES","authors":"M. Edwards, Murray Smith, B. Stewart, F. Atkinson","doi":"10.1111/j.1741-4520.1997.tb00979.x","DOIUrl":"https://doi.org/10.1111/j.1741-4520.1997.tb00979.x","url":null,"abstract":"","PeriodicalId":93953,"journal":{"name":"Congenital anomalies","volume":"16 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"1997-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"81544559","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Developmental Alteration of Local Circuits in the Somatosensory Cortex of the Ataxic Mutant Rat : Poster Sessions 共济失调突变大鼠体感觉皮层局部回路的发育改变:海报会议
Congenital anomalies Pub Date : 1997-11-30 DOI: 10.1016/s0168-0102(97)82095-0
A. Funahashi, K. Dekker-Ohno, Y. Takagishi, S. Oda, M. Inouye
{"title":"Developmental Alteration of Local Circuits in the Somatosensory Cortex of the Ataxic Mutant Rat : Poster Sessions","authors":"A. Funahashi, K. Dekker-Ohno, Y. Takagishi, S. Oda, M. Inouye","doi":"10.1016/s0168-0102(97)82095-0","DOIUrl":"https://doi.org/10.1016/s0168-0102(97)82095-0","url":null,"abstract":"","PeriodicalId":93953,"journal":{"name":"Congenital anomalies","volume":"7 1","pages":"308"},"PeriodicalIF":0.0,"publicationDate":"1997-11-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"84667490","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
0
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
相关产品
×
本文献相关产品
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:604180095
Book学术官方微信