Heterozygous Deletion of Causes Lower Limb Abnormalities in Congenital Vertical Talus

Overview

Journal J Med Genet

Specialty Genetics

Date 2024 Jan 31

PMID 38296636

Authors

Liheng Chen

Shuoyang Zhao

Wenxia Song

Lihong Wang

Zerong Yao

Jianfei Gao

Xiaoze Li

Affiliations

Soon will be listed here.

References

Zhang W, Liu Y, Zhang H . Extracellular matrix: an important regulator of cell functions and skeletal muscle development. Cell Biosci. 2021; 11(1):65. PMC: 8011170. DOI: 10.1186/s13578-021-00579-4. View

Zhao B, Rothenberg E, Ramsden D, Lieber M . The molecular basis and disease relevance of non-homologous DNA end joining. Nat Rev Mol Cell Biol. 2020; 21(12):765-781. PMC: 8063501. DOI: 10.1038/s41580-020-00297-8. View

Miller M, Dobbs M . Congenital Vertical Talus: Etiology and Management. J Am Acad Orthop Surg. 2015; 23(10):604-11. DOI: 10.5435/JAAOS-D-14-00034. View

Ge L, Dong X, Gong X, Kang J, Zhang Y, Quan F . Mutation in myostatin 3'UTR promotes C2C12 myoblast proliferation and differentiation by blocking the translation of MSTN. Int J Biol Macromol. 2020; 154:634-643. DOI: 10.1016/j.ijbiomac.2020.03.043. View

Hefti F, Bollini G, Dungl P, Fixsen J, Grill F, Ippolito E . Congenital pseudarthrosis of the tibia: history, etiology, classification, and epidemiologic data. J Pediatr Orthop B. 2000; 9(1):11-5. DOI: 10.1097/01202412-200001000-00003. View

Alvarado D, McCall K, Hecht J, Dobbs M, Gurnett C . Deletions of 5' HOXC genes are associated with lower extremity malformations, including clubfoot and vertical talus. J Med Genet. 2016; 53(4):250-5. PMC: 4955942. DOI: 10.1136/jmedgenet-2015-103505. View

Keren A, Tamir Y, Bengal E . The p38 MAPK signaling pathway: a major regulator of skeletal muscle development. Mol Cell Endocrinol. 2006; 252(1-2):224-30. DOI: 10.1016/j.mce.2006.03.017. View

Duan R, Hijazi H, Gulec E, Eker H, Costa S, Sahin Y . Developmental genomics of limb malformations: Allelic series in association with gene dosage effects contribute to the clinical variability. HGG Adv. 2022; 3(4):100132. PMC: 9403727. DOI: 10.1016/j.xhgg.2022.100132. View

Tu M, Levin J, Hamilton A, Borodinsky L . Calcium signaling in skeletal muscle development, maintenance and regeneration. Cell Calcium. 2016; 59(2-3):91-7. PMC: 4834241. DOI: 10.1016/j.ceca.2016.02.005. View

10.

Byrne L, Rodrigues F, Blennow K, Durr A, Leavitt B, Roos R . Neurofilament light protein in blood as a potential biomarker of neurodegeneration in Huntington's disease: a retrospective cohort analysis. Lancet Neurol. 2017; 16(8):601-609. PMC: 5507767. DOI: 10.1016/S1474-4422(17)30124-2. View