CANT1 mutation is also responsible for Desbuquois dysplasia, type 2 and Kim variant-Reference-Cited by-同舟云学术

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CANT1 mutation is also responsible for Desbuquois dysplasia, type 2 and Kim variant

Published:2010-10-30 Issue:1 Volume:48 Page:32-37
ISSN:0022-2593
Container-title:Journal of Medical Genetics
language:en
Short-container-title:Journal of Medical Genetics

Author:

Furuichi T.,Dai J.,Cho T.-J.,Sakazume S.,Ikema M.,Matsui Y.,Baynam G.,Nagai T.,Miyake N.,Matsumoto N.,Ohashi H.,Unger S.,Superti-Furga A.,Kim O.-H.,Nishimura G.,Ikegawa S.

Publisher

BMJ

Subject

Genetics (clinical),Genetics

Cited by 41 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. Clinical and Genetic Insights into Desbuquois Dysplasia: Review of 111 Case Reports;International Journal of Molecular Sciences;2024-09-07

2. Cant1 Affects Cartilage Proteoglycan Properties: Aggrecan and Decorin Characterization in a Mouse Model of Desbuquois Dysplasia Type 1;Biomolecules;2024-08-26

3. PROTEORIZER: A holistic approach to untangle functional consequences of variants of unknown significance;2024-07-19

4. Deficiency of Fam20b-Catalyzed Glycosaminoglycan Chain Synthesis in Neural Crest Leads to Cleft Palate;International Journal of Molecular Sciences;2023-06-01

5. Calcium-activated nucleotides 1 (CANT1)-driven nuclear factor-k-gene binding (NF-ĸB) signaling pathway facilitates the lung cancer progression;Bioengineered;2022-01-22

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