Associated Papers
Biosynthetic and genetic pathways related to sialic acid metabolism.
Huang S et al.
The Journal of Biological Chemistry, 2026
Compound heterozygous WNT10A missense variations exacerbated the tooth agenesis caused by hypohidrotic ectodermal dysplasia.
Liu Y et al.
Bmc Oral Health, 2024
38280992 (PubMed )
Supplement: 12903_2024_3888_MOESM2_ESM.xls › Supplementary_Table_1
N-acetylneuraminate pyruvate lyase controls sialylation of muscle glycoproteins essential for muscle regeneration and function.
Da Silva A et al.
Science Advances, 2023
Identification of a novel heterozygous missense TP63 variant in a Chinese pedigree with split-hand/foot malformation.
Miao M et al.
Bmc Medical Genomics, 2022
35831859 (PubMed )
Supplement: 12920_2022_1311_MOESM1_ESM.xls › filtered_data
Recombinant human N-acetylneuraminate lyase as a tool to study clinically relevant mutant variants.
Cheng C et al.
Carbohydrate Research, 2022
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 › ___
Role of Deleterious Rare Alleles for Acute-Onset Diffuse Interstitial Lung Disease in Collagen Diseases.
Furukawa H et al.
Clinical Medicine Insights. Circulatory, Respiratory and Pulmonary Medicine, 2019
Sialic acid catabolism by N-acetylneuraminate pyruvate lyase is essential for muscle function.
Wen XY et al.
Jci Insight, 2018
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