Novel variants in the LRP4 underlying Cenani-Lenz Syndactyly syndrome-Reference-Cited by-同舟云学术

Novel variants in the LRP4 underlying Cenani-Lenz Syndactyly syndrome

Published:2021-12-03 Issue: Volume: Page:
ISSN:1434-5161
Container-title:Journal of Human Genetics
language:en
Short-container-title:J Hum Genet

Author:

Khan Hammal,Chong Angie En Qi,Bilal Muhammad,Nawaz Shoaib,Abdullah ,Abbasi Sanaullah,Hussain Amir,Hussain Shabir,Ullah Imran,Ali Hamid,Xue Shifeng^ORCID,Ahmad Wasim^ORCID

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

https://www.nature.com/articles/s10038-021-00995-x.pdf

Reference26 articles.

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2. Li Y, Pawlik B, Elcioglu N, Aglan M, Kayserili H, Yigit G, et al. LRP4 mutations alter Wnt/β-catenin signaling and cause limb and kidney malformations in Cenani-Lenz syndrome. Am J Hum Genet. 2010;86:696–706.

3. Ohkawara B, Cabrera-Serrano M, Nakata T, Milone M, Asai N, Ito K, et al. LRP4 third β-propeller domain mutations cause novel congenital myasthenia by compromising agrin-mediated MuSK signaling in a position-specific manner. Hum Mol Genet. 2014;23:1856–68.

4. Xiong L, Jung JU, Wu H, Xia WF, Pan JX, Shen C, et al. Lrp4 in osteoblasts suppresses bone formation and promotes osteoclastogenesis and bone resorption. Nat Acad Sci. 2015;112:3487–92.

5. Dietrich MF, Van Der Weyden L, Prosser HM, Bradley A, Herz J, Adams DJ. Ectodomains of the LDL receptor-related proteins LRP1b and LRP4 have anchorage independent functions in vivo. PLoS ONE. 2010;5:e9960.

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1. Clinical and genetic investigation of 14 families with various forms of short stature syndromes;Clinical Genetics;2024-05-22

2. A novel homozygous missense variant in LRP4 causing Cenani‐Lenz syndactyly syndrome and literature review;Molecular Genetics & Genomic Medicine;2023-11-27

3. New mutation in the β1 propeller domain of LRP4 responsible for congenital myasthenic syndrome associated with Cenani–Lenz syndrome;Scientific Reports;2023-08-28

4. A variant in the LDL receptor‐related protein encoding gene LRP4 underlying polydactyly and phalangeal synostosis in a family of Pakistani origin;Congenital Anomalies;2023-08-10

5. Balancing WNT signalling in early forebrain development: The role of LRP4 as a modulator of LRP6 function;Frontiers in Cell and Developmental Biology;2023-04-07