Varaico: Literature-Extracted Genetic Variants

Gene:SNX10
Variant:p.R51Q
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SNX10

NM_013322.3:p.R51Q

Associated Papers

The molecular and functional interplay between the osteopetrosis-associated proteins SNX10, OSTM1, and CLC-7 during mouse osteoclastogenesis.

Reuven N et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2025

Sorting nexin 10 regulates lysosomal ionic homeostasis via ClC-7 by controlling PI(3,5)P2.

Wu JZ et al.

The Journal of Cell Biology, 2025

A comprehensive report of the clinical and mutational profiles of 30 Iranian malignant infantile osteopetrosis patients.

Amirfiroozy A et al.

Molecular and Cellular Probes, 2025

Analysis of a Series of 26 Cases With Prenatal Skeletal Dysplasia via Multiplatform Genetic Detection.

Cui LM et al.

Molecular Genetics & Genomic Medicine, 2025

SNX10 regulates osteoclastogenic cell fusion and osteoclast size in mice.

Barnea-Zohar M et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2024

Molecular Mechanisms of Craniofacial and Dental Abnormalities in Osteopetrosis.

Ma Y et al.

International Journal of Molecular Sciences, 2023

Identification of Key Amino Acid Residues Involved in the Localization of Sorting Nexin 10 and Induction of Vacuole Formation.

Xiao B et al.

Biochemistry. Biokhimiia, 2021

Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.

Wang Z et al.

Genome Medicine, 2021

34503567 (PubMed )
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PTPRJ promotes osteoclast maturation and activity by inhibiting Cbl-mediated ubiquitination of NFATc1 in late osteoclastogenesis.

Shalev M et al.

The Febs Journal, 2021

The molecular structure and function of sorting nexin 10 in skeletal disorders, cancers, and other pathological conditions.

Xu J et al.

Journal of Cellular Physiology, 2021

An SNX10-dependent mechanism downregulates fusion between mature osteoclasts.

Barnea-Zohar M et al.

Journal of Cell Science, 2021

Sorting Nexin 10 as a Key Regulator of Membrane Trafficking in Bone-Resorbing Osteoclasts: Lessons Learned From Osteopetrosis.

Elson A et al.

Frontiers in Cell and Developmental Biology, 2021

Massive osteopetrosis caused by non-functional osteoclasts in R51Q SNX10 mutant mice.

Stein M et al.

Bone, 2020

Stem cell transplantation for osteopetrosis in patients beyond the age of 5 years.

Stepensky P et al.

Blood Advances, 2019

The use of whole exome sequencing for the diagnosis of autosomal recessive malignant infantile osteopetrosis.

Shamriz O et al.

Clinical Genetics, 2017

Extending the Spectrum of Radiological Findings in Patients With Severe Osteopetrosis and Different Genetic Backgrounds.

Simanovsky N et al.

Pediatric Blood & Cancer, 2016

Osteopetrorickets due to Snx10 deficiency in mice results from both failed osteoclast activity and loss of gastric acid-dependent calcium absorption.

Ye L et al.

Plos Genetics, 2015

Structure of human SNX10 reveals insights into its role in human autosomal recessive osteopetrosis.

Xu T et al.

Proteins, 2014

Snx10: a newly identified locus associated with human osteopetrosis.

Ye L et al.

Ibms Bonekey, 2013

An SNX10 mutation causes malignant osteopetrosis of infancy.

Aker M et al.

Journal of Medical Genetics, 2012

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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."