A novel loss-of-function mutation in Npr2 clarifies primary role in female reproduction and reveals a potential therapy for acromesomelic dysplasia, Maroteaux type.-论文-万方医学网

作者： Krista A,Geister ^[1] ; Michelle L,Brinkmeier ; Minnie,Hsieh ; Susan M,Faust ; I Jill,Karolyi ; Joseph E,Perosky ; Kenneth M,Kozloff ; Marco,Conti ; Sally A,Camper

作者单位： Graduate Program in Cellular and Molecular Biology, University of Michigan, Ann Arbor, MI 48109, USA. ^[1]

主题词动物(Animals);碱基序列(Base Sequence);骨密度(Bone Density);骨疾病, 发育性(Bone Diseases, Developmental);骨和骨组织(Bone and Bones);侏儒症(Dwarfism);女(雌)性(Female);基因型(Genotype);人类(Humans);不育, 女(雌)性(Infertility, Female);MAP激酶信号系统(MAP Kinase Signaling System);男(雄)性(Male);小鼠(Mice);丝裂原活化蛋白激酶1(Mitogen-Activated Protein Kinase 1);丝裂原活化蛋白激酶3(Mitogen-Activated Protein Kinase 3);突变(Mutation);表型(Phenotype);磷酰化(Phosphorylation);蛋白激酶抑制剂(Protein Kinase Inhibitors);受体, 心钠素(Receptors, Atrial Natriuretic Factor);生殖(Reproduction)

DOI 10.1093/hmg/dds432

PMID 23065701

发布时间 2021-10-21

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A novel loss-of-function mutation in Npr2 clarifies primary role in female reproduction and reveals a potential therapy for acromesomelic dysplasia, Maroteaux type.

Human molecular genetics

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Human molecular genetics

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A novel loss-of-function mutation in Npr2 clarifies primary role in female reproduction and reveals a potential therapy for acromesomelic dysplasia, Maroteaux type.

Human molecular genetics

相似文献

Human molecular genetics

相关期刊

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