Type and Level of RMRP Functional Impairment Predicts Phenotype in the Cartilage Hair Hypoplasia–Anauxetic Dysplasia Spectrum
Author:
Publisher
Elsevier BV
Subject
Genetics(clinical),Genetics
Reference24 articles.
1. Severely incapacitating mutations in patients with extreme short stature identify RNA-processing endoribonuclease RMRP as an essential cell growth regulator;Thiel;Am J Hum Genet,2005
2. An unknown spondylo-meta-epiphyseal dysplasia in sibs with extreme short stature;Menger;Am J Med Genet,1996
3. Evolutionary comparison provides evidence for pathogenicity of RMRP mutations;Bonafe;PLoS Genet,2005
4. Mutual interactions between subunits of the human RNase MRP ribonucleoprotein complex;Welting;Nucleic Acids Res,2004
5. Consequences of mutations in the non-coding RMRP RNA in cartilage-hair hypoplasia;Hermanns;Hum Mol Genet,2005
Cited by 78 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. Cartilage-hair hypoplasia–anauxetic dysplasia spectrum disorders harboring RMRP mutations in two Korean children: A case report;Medicine;2024-05-24
2. Diamond-Blackfan anemia, the archetype of ribosomopathy: How distinct is it from the other constitutional ribosomopathies?;Blood Cells, Molecules, and Diseases;2024-05
3. Novel phenotype associated with homozygous likely pathogenic variant in the POP1 gene;Clinical Genetics;2024-02-13
4. RMRP‐related short stature: A report of six additional Japanese individuals with cartilage hair hypoplasia and literature review;American Journal of Medical Genetics Part A;2024-02-09
5. Shorter birth length and decreased T-cell production and function predict severe infections in children with non–severe combined immunodeficiency cartilage–hair hypoplasia;Journal of Allergy and Clinical Immunology: Global;2024-02
1.学者识别学者识别
2.学术分析学术分析
3.人才评估人才评估
"同舟云学术"是以全球学者为主线，采集、加工和组织学术论文而形成的新型学术文献查询和分析系统，可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容，当前同舟云学术共收录了国内外主流学术期刊6万余种，收集的期刊论文及会议论文总量共计约1.5亿篇，并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询！咨询电话：010-8811{复制后删除}0370
www.globalauthorid.com
TOP
Copyright © 2019-2024 北京同舟云网络信息技术有限公司 京公网安备11010802033243号 京ICP备18003416号-3