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The missense mutation C667F in murine β-dystroglycan causes embryonic lethality, myopathy and blood-brain barrier destabilization.
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Frontiers in Genetics, 2023
37007936 (PubMed )
Supplement: Table4.XLS › WES_20220309_T7.JXPES22030004.t
RET c.1901G>A and Novel SLC12A3 Mutations in Familial Pheochromocytomas
Zhao L et al.
Genes, 2022
35627249 (PubMed )
Supplement: genes-13-00864-s001.zip › Supplementary_Material_S2.The_information_of_annotated_gene_mutations2.xlsx › ___
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
31802016 (PubMed )
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Dysregulation of neuron differentiation in an autistic savant with exceptional memory.
Song J et al.
Molecular Brain, 2019
31699123 (PubMed )
Supplement: 13041_2019_507_MOESM1_ESM.xlsx › SNPs_merged_1000g_deleterious
Feeding difficulty is the dominant feature in 12 Chinese newborns with CHD7 pathogenic variants.
Chen X et al.
Bmc Medical Genetics, 2019
31146700 (PubMed )
Supplement: 12881_2019_813_MOESM1_ESM.xls › CHD7_ChenXiang_query_Report_Fil
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.
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Biomed Research International, 2015
Integrated mRNA and microRNA transcriptome sequencing characterizes sequence variants and mRNA-microRNA regulatory network in nasopharyngeal carcinoma model systems.
Szeto CY et al.
Febs Open Bio, 2014
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