Varaico: Literature-Extracted Genetic Variants

Gene:PAM
Variant:p.S539W
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PAM

NM_001177306.2:p.S539W

Associated Papers

Pharmacogenetics of incretin-based therapies.

Yaluri AS et al.

Postgraduate Medical Journal, 2025

A multi-omics Mendelian randomization study reveals PAM as a potential therapeutic target for type 2 diabetes.

Yi M et al.

Journal of Translational Medicine, 2025

Peptidylglycine alpha-amidating monooxygenase is important in mice for beta-cell cilia formation and insulin secretion but promotes diabetes risk through beta-cell independent mechanisms.

Chen YC et al.

Molecular Metabolism, 2025

Deficiency of Peptidylglycine-alpha-amidating Monooxygenase, a Cause of Sarcopenic Diabetes Mellitus.

Giontella A et al.

The Journal of Clinical Endocrinology and Metabolism, 2025

Type 2 Diabetes risk alleles in Peptidyl-glycine Alpha-amidating Monooxygenase influence GLP-1 levels and response to GLP-1 Receptor Agonists.

Umapathysivam MM et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

Germline loss-of-function PAM variants are enriched in subjects with pituitary hypersecretion.

Trivellin G et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

Germline loss-of-function PAM variants are enriched in subjects with pituitary hypersecretion.

Trivellin G et al.

Frontiers in Endocrinology, 2023

PAM variants in patients with thyrotrophinomas, cyclical Cushing's disease and prolactinomas.

De Sousa SMC et al.

Frontiers in Endocrinology, 2023

Gene-level analysis of rare variants in 379,066 whole exome sequences identifies an association of GIGYF1 loss of function with type 2 diabetes.

Deaton AM et al.

Scientific Reports, 2021

Exome sequencing and analysis of 454,787 UK Biobank participants.

Backman JD et al.

Nature, 2021

34662886 (PubMed )
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Rare Coding Variants Associated With Electrocardiographic Intervals Identify Monogenic Arrhythmia Susceptibility Genes: A Multi-Ancestry Analysis.

Choi SH et al.

Circulation. Genomic and Precision Medicine, 2021

Insights into pancreatic islet cell dysfunction from type 2 diabetes mellitus genetics.

Krentz NAJ et al.

Nature Reviews. Endocrinology, 2020

Functional Genomics in Pancreatic β Cells: Recent Advances in Gene Deletion and Genome Editing Technologies for Diabetes Research.

Hu M et al.

Frontiers in Endocrinology, 2020

Exome sequencing of 20,791 cases of type 2 diabetes and 24,440 controls.

Flannick J et al.

Nature, 2019

Type 2 diabetes risk alleles in PAM impact insulin release from human pancreatic β-cells.

Thomsen SK et al.

Nature Genetics, 2018

Genome-wide association analyses identify 143 risk variants and putative regulatory mechanisms for type 2 diabetes.

Xue A et al.

Nature Communications, 2018

The peptidylglycine-α-amidating monooxygenase (PAM) gene rs13175330 A>G polymorphism is associated with hypertension in a Korean population.

Yoo HJ et al.

Human Genomics, 2017

Recent progress in genetic and epigenetic research on type 2 diabetes.

Kwak SH et al.

Experimental & Molecular Medicine, 2016

Recent advances in understanding the genetic architecture of type 2 diabetes.

Mohlke KL et al.

Human Molecular Genetics, 2015

Identification of low-frequency and rare sequence variants associated with elevated or reduced risk of type 2 diabetes.

Steinthorsdottir V et al.

Nature Genetics, 2014

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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."