FIGURE

Figure 1

ID

ZDB-FIG-221118-148

Publication

Chen et al., 2022 - Novel Loss-of-Function Variant in HNF1a Induces β-Cell Dysfunction through Endoplasmic Reticulum Stress

Other Figures

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Figure 1

Clinical and functional characteristics of the HNF1a-Q125ter variant. (A) Clinical and biochemical indices of subject carrying the HNF1a-Q125ter variant. Urine glucose and urine ketosis levels suggested the patient had diabetic ketosis. Meanwhile, a high level of LAC indicated lactic acid metabolism disorder: +, positive; −, negative. (B) Pedigree. Circle, female; square, male; black slash segment, death; black arrow, proband. Those affected with diabetes are shaded black. Corresponding variant status, if known. Carriers of the mutation are marked with a (+). (C) Sanger sequencing map of HNF1a-Q125ter variant. Black arrow indicates heterozygous mutation for HNF1a: Exon2, c.373C>T, p.(Gln125*). (D) A diagram showing the HNF1a protein and domains. (E) Protein structure modeling of WT and HNF1a-Q125ter. White arrow indicates Gln125. HbA1c, hemoglobin A1c; LAC, lactic acid; Ket, ketosis.

Expression Data

Expression Detail

Antibody Labeling

Phenotype Data

Phenotype Detail

Acknowledgments

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