A variant in the LDL receptor‐related protein encoding gene LRP4 underlying polydactyly and phalangeal synostosis in a family of Pakistani origin
出版年份 2023 全文链接
标题
A variant in the LDL receptor‐related protein encoding gene LRP4 underlying polydactyly and phalangeal synostosis in a family of Pakistani origin
作者
关键词
-
出版物
CONGENITAL ANOMALIES
Volume -, Issue -, Pages -
出版商
Wiley
发表日期
2023-08-11
DOI
10.1111/cga.12536
参考文献
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注意:仅列出部分参考文献,下载原文获取全部文献信息。- Genetic overview of postaxial polydactyly: Updated classification
- (2022) Zaheer Ahmad et al. CLINICAL GENETICS
- Novel variants in the LRP4 underlying Cenani-Lenz Syndactyly syndrome
- (2021) Hammal Khan et al. JOURNAL OF HUMAN GENETICS
- Greig Cephalopolysyndactyly Syndrome: Phenotypic Variability Associated with Variants in Two Different Domains of GLI3
- (2020) Hammal Khan et al. KLINISCHE PADIATRIE
- Exome sequencing revealed a novel loss‐of‐function variant in the GLI3 transcriptional activator 2 domain underlies nonsyndromic postaxial polydactyly
- (2019) Muhammad Umair et al. Molecular Genetics & Genomic Medicine
- Pakistan Genetic Mutation Database (PGMD); A centralized Pakistani mutome data source
- (2018) Iqbal Qasim et al. European Journal of Medical Genetics
- Mutations in the fourth β-propeller domain of LRP4 are associated with isolated syndactyly with fusion of the third and fourth fingers
- (2018) Rivka Sukenik Halevy et al. HUMAN MUTATION
- DynaMut: predicting the impact of mutations on protein conformation, flexibility and stability
- (2018) Carlos HM Rodrigues et al. NUCLEIC ACIDS RESEARCH
- Clinical Genetics of Polydactyly: An Updated Review
- (2018) Muhammad Umair et al. Frontiers in Genetics
- Analysis of protein-coding genetic variation in 60,706 humans
- (2016) Monkol Lek et al. NATURE
- LRP4 in neuromuscular junction and bone development and diseases
- (2015) Chengyong Shen et al. BONE
- Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
- (2015) Sue Richards et al. GENETICS IN MEDICINE
- A general framework for estimating the relative pathogenicity of human genetic variants
- (2014) Martin Kircher et al. NATURE GENETICS
- Disruption of Lrp4 function by genetic deletion or pharmacological blockade increases bone mass and serum sclerostin levels
- (2014) Ming-Kang Chang et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Cenani–Lenz syndrome restricted to limb and kidney anomalies associated with a novel LRP4 missense mutation
- (2013) Tahir Naeem Khan et al. European Journal of Medical Genetics
- LRP4 third β-propeller domain mutations cause novel congenital myasthenia by compromising agrin-mediated MuSK signaling in a position-specific manner
- (2013) Bisei Ohkawara et al. HUMAN MOLECULAR GENETICS
- WNT signaling in bone homeostasis and disease: from human mutations to treatments
- (2013) Roland Baron et al. NATURE MEDICINE
- The Structural Basis of DKK-Mediated Inhibition of Wnt/LRP Signaling
- (2012) J. Bao et al. Science Signaling
- Bone Overgrowth-associated Mutations in theLRP4Gene Impair Sclerostin Facilitator Function
- (2011) Olivier Leupin et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Agrin Binds to the N-terminal Region of Lrp4 Protein and Stimulates Association between Lrp4 and the First Immunoglobulin-like Domain in Muscle-specific Kinase (MuSK)
- (2011) Wei Zhang et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- LRP4 Mutations Alter Wnt/β-Catenin Signaling and Cause Limb and Kidney Malformations in Cenani-Lenz Syndrome
- (2010) Yun Li et al. AMERICAN JOURNAL OF HUMAN GENETICS
- The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data
- (2010) A. McKenna et al. GENOME RESEARCH
- ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data
- (2010) K. Wang et al. NUCLEIC ACIDS RESEARCH
- Lrp4 Regulates Initiation of Ureteric Budding and Is Crucial for Kidney Formation – A Mouse Model for Cenani-Lenz Syndrome
- (2010) Courtney M. Karner et al. PLoS One
- Fast and accurate short read alignment with Burrows-Wheeler transform
- (2009) H. Li et al. BIOINFORMATICS
- Lrp4 Is a Receptor for Agrin and Forms a Complex with MuSK
- (2008) Natalie Kim et al. CELL
- Cenani–Lenz syndactyly with facial dysmorphism, hypothyroidism, and renal hypoplasia: a case report
- (2008) Hisham Jarbhou et al. CLINICAL DYSMORPHOLOGY
- Expanding functions of lipoprotein receptors
- (2008) Joachim Herz et al. JOURNAL OF LIPID RESEARCH
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