Associated Papers
Exome Sequencing Reveals the Genetic Architecture of Non-syndromic Orofacial Clefts and Identifies BOC as a Novel Causal Gene.
He Q et al.
Advanced Science (weinheim, Baden-wurttemberg, Germany), 2025
40464334 (PubMed )
Supplement: ADVS-12-e12073-s006.xlsx › Sheet1
The missense mutation C667F in murine β-dystroglycan causes embryonic lethality, myopathy and blood-brain barrier destabilization.
Tan RL et al.
Disease Models & Mechanisms, 2024
DAG1 haploinsufficiency is associated with sporadic and familial isolated or pauci-symptomatic hyperCKemia.
Traverso M et al.
European Journal of Human Genetics : Ejhg, 2024
Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.
Cong PK et al.
Nature Communications, 2022
35618720 (PubMed )
Supplement: 41467_2022_30526_MOESM5_ESM.xlsx › Data_2
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
31802016 (PubMed )
Supplement: 41586_2019_1793_MOESM3_ESM.xlsx › S4b_-_Disease_Var
A molecular overview of the primary dystroglycanopathies.
Brancaccio A
Journal of Cellular and Molecular Medicine, 2019
A dystroglycan mutation (p.Cys667Phe) associated to muscle-eye-brain disease with multicystic leucodystrophy results in ER-retention of the mutant protein.
Signorino G et al.
Human Mutation, 2018
An evaluation of the evolution of the gene structure of dystroglycan.
Brancaccio A et al.
Bmc Research Notes, 2017
The effect of the pathological V72I, D109N and T190M missense mutations on the molecular structure of α-dystroglycan.
Covaceuszach S et al.
Plos One, 2017
Genetic Engineering of Dystroglycan in Animal Models of Muscular Dystrophy.
Sciandra F et al.
Biomed Research International, 2015
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