Distinct Missense Mutations of the FGFR3 Lys650 Codon Modulate Receptor Kinase Activation and the Severity of the Skeletal Dysplasia Phenotype-Reference-Cited by-同舟云学术

Distinct Missense Mutations of the FGFR3 Lys650 Codon Modulate Receptor Kinase Activation and the Severity of the Skeletal Dysplasia Phenotype

Published:2000-12 Issue:6 Volume:67 Page:1411-1421
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Bellus Gary A.,Spector Elaine B.,Speiser Phyllis W.,Weaver Christine A.,Garber Anthony T.,Bryke Christine R.,Israel Jamie,Rosengren Sally S.,Webster Melanie K.,Donoghue Daniel J.,Francomano Clair A.

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference42 articles.

1. Long-term survival in typical type 1 thanatophoric dysplasia;Baker;Am J Med Genet,1997

2. Hypochondroplasia: a report of five kindreds;Beals;J Bone Joint Surg Am,1969

3. Severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN): phenotypic analysis of a new skeletal dysplasia caused by the fibroblast growth factor receptor 3 Lys650Met mutation;Bellus;Am J Med Genet,1999

4. Achondroplasia is defined by recurrent G380R mutations of FGFR3;Bellus;Am J Hum Genet,1995

5. A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia;Bellus;Nat Genet,1995

Cited by 142 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. Probing phosphorylation events in biological membranes: The transducer function;Biochimica et Biophysica Acta (BBA) - Biomembranes;2024-10

2. FGFR3 alterations in bladder cancer: Sensitivity and resistance to targeted therapies;Cancer Communications;2024-08-19

3. A case of long-term survival of SADDAN treated with growth hormone for marked short stature;CLIN PEDIATR ENDOCRI;2024

4. Exploring the Micro-Mosaic Landscape of FGFR3 Mutations in the Ageing Male Germline and Their Potential Implications in Meiotic Differentiation;Genes;2024-01-30

5. Prenatal diagnosis of fetuses with ultrasound anomalies by whole-exome sequencing in Luoyang city, China;Frontiers in Genetics;2024-01-22