Varaico: Literature-Extracted Genetic Variants

Gene:PAPPA2
Variant:p.A1033V
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PAPPA2

NM_020318.3:p.A1033V

Associated Papers

Spontaneous final adult height in patients with idiopathic short stature.

Banaszak-Ziemska M et al.

Pediatric Endocrinology, Diabetes, and Metabolism, 2025

Genetic analysis of the PAPP-A2 gene and evaluation of free IGF-1, IGFBP-5, and ALS concentrations in a group of 22 patients with idiopathic short stature.

Banaszak-Ziemska M et al.

Endokrynologia Polska, 2024

Cryo-EM structure of human PAPP-A2 and mechanism of substrate recognition.

Sridar J et al.

Communications Chemistry, 2023

Five-Year Therapy with Recombinant Human Insulin-Like Growth Factor-1 in a Patient with PAPP-A2 Deficiency.

Muthuvel G et al.

Hormone Research in Paediatrics, 2023

Pregnancy-Associated Plasma Protein (PAPP)-A2 in Physiology and Disease.

Barrios V et al.

Cells, 2021

Disorders caused by genetic defects associated with GH-dependent genes: PAPPA2 defects.

Fujimoto M et al.

Molecular and Cellular Endocrinology, 2020

Low IGF-I Bioavailability Impairs Growth and Glucose Metabolism in a Mouse Model of Human PAPPA2 p.Ala1033Val Mutation.

Fujimoto M et al.

Endocrinology, 2019

Pharmacokinetics of IGF-1 in PAPP-A2-Deficient Patients, Growth Response, and Effects on Glucose and Bone Density.

Cabrera-Salcedo C et al.

The Journal of Clinical Endocrinology and Metabolism, 2017

One level up: abnormal proteolytic regulation of IGF activity plays a role in human pathophysiology.

Argente J et al.

Embo Molecular Medicine, 2017

Mutations in pregnancy-associated plasma protein A2 cause short stature due to low IGF-I availability.

Dauber A et al.

Embo Molecular Medicine, 2016

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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."