Varaico: Literature-Extracted Genetic Variants

Gene:PDX1
Variant:p.E224K
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PDX1

NM_000209.4:p.E224K

Associated Papers

Investigation of Monogenic Diabetes Genes in Thai Children with Autoantibody Negative Diabetes Requiring Insulin.

Teerawattanapong N et al.

Diabetes, Metabolic Syndrome and Obesity : Targets and Therapy, 2024

Prevalence and Clinical Characteristics of PDX1 Variant Induced Diabetes in Chinese Early-Onset Type 2 Diabetes.

Lian H et al.

The Journal of Clinical Endocrinology and Metabolism, 2023

Biophysical insights into glucose-dependent transcriptional regulation by PDX1.

Usher ET et al.

The Journal of Biological Chemistry, 2022

Low genetic confirmation rate in South Indian subjects with a clinical diagnosis of maturity-onset diabetes of the young (MODY) who underwent targeted next-generation sequencing for 13 genes.

Sampathkumar G et al.

Journal of Endocrinological Investigation, 2022

First Japanese Family With PDX1-MODY (MODY4): A Novel PDX1 Frameshift Mutation, Clinical Characteristics, and Implications.

Yoshiji S et al.

Journal of the Endocrine Society, 2022

Clinical features, complications and treatment of rarer forms of maturity-onset diabetes of the young (MODY) - A review.

Aarthy R et al.

Journal of Diabetes and Its Complications, 2021

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

Iranian neonatal diabetes mellitus due to mutation in PDX1 gene: a case report.

Sahebi L et al.

Journal of Medical Case Reports, 2019

Predicting disease-causing variant combinations.

Papadimitriou S et al.

Proceedings of the National Academy of Sciences of the United States of America, 2019

Comprehensive genomic analysis identifies pathogenic variants in maturity-onset diabetes of the young (MODY) patients in South India.

Mohan V et al.

Bmc Medical Genetics, 2018

PDX1 -MODY and dorsal pancreatic agenesis: New phenotype of a rare disease.

Caetano LA et al.

Clinical Genetics, 2018

Comprehensive Maturity Onset Diabetes of the Young (MODY) Gene Screening in Pregnant Women with Diabetes in India.

Doddabelavangala Mruthyunjaya M et al.

Plos One, 2017

Analysis of protein-coding genetic variation in 60,706 humans.

Lek M et al.

Nature, 2016

27535533 (PubMed )
Supplement: NIHMS798561-supplement-supp_table20.xlsx › SI_Table_20

Maturity onset diabetes of the young in India - a distinctive mutation pattern identified through targeted next-generation sequencing.

Chapla A et al.

Clinical Endocrinology, 2015

A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance.

Manning AK et al.

Nature Genetics, 2012

The diabetes gene Pdx1 regulates the transcriptional network of pancreatic endocrine progenitor cells in mice.

Oliver-Krasinski JM et al.

The Journal of Clinical Investigation, 2009

A-beta-subtype of ketosis-prone diabetes is not predominantly a monogenic diabetic syndrome.

Haaland WC et al.

Diabetes Care, 2009

Best practice guidelines for the molecular genetic diagnosis of maturity-onset diabetes of the young.

Ellard S et al.

Diabetologia, 2008

Two conserved domains in PCIF1 mediate interaction with pancreatic transcription factor PDX-1.

Liu A et al.

Febs Letters, 2006

Asian MODY: are we missing an important diagnosis?

Porter JR et al.

Diabetic Medicine : a Journal of the British Diabetic Association, 2006

Insulin promoter factor-1 mutations and diabetes in Trinidad: identification of a novel diabetes-associated mutation (E224K) in an Indo-Trinidadian family.

Cockburn BN et al.

The Journal of Clinical Endocrinology and Metabolism, 2004

Our Experiences and Learnings in Diagnosing MODY from Non-Institutional-Based Diabetes Care Clinics.

Pande AR et al.

Indian Journal of Endocrinology and Metabolism, 0

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."