Varaico: Literature-Extracted Genetic Variants

Gene:ANXA11
Variant:p.G189E
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ANXA11

NM_145868.2:p.G189E

Associated Papers

Annexin A11 mutations are associated with nuclear envelope dysfunction in vivo and in human tissues.

Marchica V et al.

Brain : a Journal of Neurology, 2025

38989900 (PubMed )
Supplement: awae226_supplementary_data.zip › Supplementary_Information.pdf

A systematic review and functional in-silico analysis of genes and variants associated with amyotrophic lateral sclerosis.

Arreola-Aldape CA et al.

Frontiers in Neuroscience, 2025

40589786 (PubMed )
Supplement: Table_4.xlsx › ClinVar_query_results

Genetic and in silico analysis of Indian sporadic young onset patient with amyotrophic lateral sclerosis.

Roychowdhury S et al.

Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2024

An ANXA11 P93S variant dysregulates TDP-43 and causes corticobasal syndrome.

Snyder A et al.

Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2024

38923692 (PubMed )
Supplement: ALZ-20-5220-s001.docx

ALS Identified: two-year findings from a sponsored ALS genetic testing program.

Goutman SA et al.

Annals of Clinical and Translational Neurology, 2024

39044379 (PubMed )
Supplement: ACN3-11-2201-s003.xlsx › ClinGen_VariantClassification

ALS Variants of Annexin A11's Proline-Rich Domain Impair Its S100A6-Mediated Fibril Dissolution.

Shihora A et al.

Acs Chemical Neuroscience, 2023

An atypical ALS with PSP-like symptoms caused by ANXA11 p.D40G mutation: A case report and literature review.

Zhang X et al.

Frontiers in Neurology, 2023

Emerging Roles for Phase Separation of RNA-Binding Proteins in Cellular Pathology of ALS.

Milicevic K et al.

Frontiers in Cell and Developmental Biology, 2022

ANXA11 mutations are associated with amyotrophic lateral sclerosis-frontotemporal dementia.

Wang Y et al.

Frontiers in Neurology, 2022

Clinical and genetic characteristics of amyotrophic lateral sclerosis patients with ANXA11 variants.

Sung W et al.

Brain Communications, 2022

A novel splicing variant of ANXA11 in a patient with amyotrophic lateral sclerosis: histologic and biochemical features.

Sainouchi M et al.

Acta Neuropathologica Communications, 2021

ANXA11 mutations in ALS cause dysregulation of calcium homeostasis and stress granule dynamics.

Nahm M et al.

Science Translational Medicine, 2020

Structure of the ALS Mutation Target Annexin A11 Reveals a Stabilising N-Terminal Segment.

Lillebostad PAG et al.

Biomolecules, 2020

ANXA11 mutations prevail in Chinese ALS patients with and without cognitive dementia.

Zhang K et al.

Neurology. Genetics, 2018

Mutations in the vesicular trafficking protein annexin A11 are associated with amyotrophic lateral sclerosis.

Smith BN et al.

Science Translational Medicine, 2017

Unraveling the multifaceted insights into amyotrophic lateral sclerosis: Genetic underpinnings, pathogenesis, and therapeutic horizons.

Sharma R et al.

Mutation Research. Reviews in Mutation Research, 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."