Varaico: Literature-Extracted Genetic Variants

Gene:BANF1
Variant:p.A12T
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BANF1

NM_003860.4:p.A12T

Associated Papers

Nucleosome Bundling by Barrier-to-Autointegration Factor: Implications for Its Diverse Functions.

Horikoshi N et al.

Bioessays : News and Reviews in Molecular, Cellular and Developmental Biology, 2026

A multiparametric anti-aging CRISPR screen uncovers a role for BAF in protein synthesis regulation.

Breusegem SY et al.

Nature Communications, 2025

A novel role for CSA in the regulation of nuclear envelope integrity: uncovering a non-canonical function.

Yang D et al.

Life Science Alliance, 2024

A human progeria-associated BAF-1 mutation modulates gene expression and accelerates aging in C. elegans.

Romero-Bueno R et al.

The Embo Journal, 2024

Navigating Lipodystrophy: Insights from Laminopathies and Beyond.

Krüger P et al.

International Journal of Molecular Sciences, 2024

DNA density is a better indicator of a nuclear bleb than lamin B loss.

Bunner S et al.

Biorxiv : the Preprint Server for Biology, 2024

How nuclear envelope dynamics can direct laminopathy phenotypes.

van Heerden D et al.

Current Opinion in Cell Biology, 2024

Lamins: The backbone of the nucleocytoskeleton interface.

Sobo JM et al.

Current Opinion in Cell Biology, 2024

Novel and nano-rare genetic causes of paediatric-onset motor neuronopathies.

Cakar A et al.

Brain Communications, 2024

A De Novo Sequence Variant in Barrier-to-Autointegration Factor Is Associated with Dominant Motor Neuronopathy.

Marcelot A et al.

Cells, 2023

Analysis of a rare progeria variant of Barrier-to-autointegration factor in Drosophila connects centromere function to tissue homeostasis.

Duan T et al.

Cellular and Molecular Life Sciences : Cmls, 2023

The Nuclear Envelope in Ageing and Progeria.

Fragoso-Luna A et al.

Sub-cellular Biochemistry, 2023

The BAF A12T mutation disrupts lamin A/C interaction, impairing robust repair of nuclear envelope ruptures in Nestor-Guillermo progeria syndrome cells.

Janssen A et al.

Nucleic Acids Research, 2022

Mechanisms of A-Type Lamin Targeting to Nuclear Ruptures Are Disrupted in LMNA- and BANF1-Associated Progerias.

Sears RM et al.

Cells, 2022

DNA repair-related genes and adipogenesis: Lessons from congenital lipodystrophies.

Campos JTAM et al.

Genetics and Molecular Biology, 2022

Protein structural and mechanistic basis of progeroid laminopathies.

Marcelot A et al.

The Febs Journal, 2021

Di-phosphorylated BAF shows altered structural dynamics and binding to DNA, but interacts with its nuclear envelope partners.

Marcelot A et al.

Nucleic Acids Research, 2021

Barrier-to-autointegration factor: a first responder for repair of nuclear ruptures.

Halfmann CT et al.

Cell Cycle (georgetown, Tex.), 2021

Premature aging disorders: A clinical and genetic compendium.

Schnabel F et al.

Clinical Genetics, 2021

Mutations Involved in Premature-Ageing Syndromes.

Coppedè F

The Application of Clinical Genetics, 2021

The Impact of Rare Human Variants on Barrier-To-Auto-Integration Factor 1 (Banf1) Structure and Function.

Rose M et al.

Frontiers in Cell and Developmental Biology, 2021

Interplay of the nuclear envelope with chromatin in physiology and pathology.

Burla R et al.

Nucleus (austin, Tex.), 2020

An additional case of Néstor-Guillermo progeria syndrome diagnosed in early childhood.

Fisher HG et al.

American Journal of Medical Genetics. Part A, 2020

Barrier-to-autointegration factor 1 (Banf1) regulates poly [ADP-ribose] polymerase 1 (PARP1) activity following oxidative DNA damage.

Bolderson E et al.

Nature Communications, 2019

Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.

Fragoza R et al.

Nature Communications, 2019

31515488 (PubMed )
Supplement: 41467_2019_11959_MOESM8_ESM.xlsx › SD4_-_HGMD_Mutations

Nuclear Organization in Stress and Aging.

Romero-Bueno R et al.

Cells, 2019

Rare BANF1 Alleles and Relatively Frequent EMD Alleles Including 'Healthy Lipid' Emerin p.D149H in the ExAC Cohort.

Dharmaraj T et al.

Frontiers in Cell and Developmental Biology, 2019

Genomic instability and DNA replication defects in progeroid syndromes.

Burla R et al.

Nucleus (austin, Tex.), 2018

Structural analysis of the ternary complex between lamin A/C, BAF and emerin identifies an interface disrupted in autosomal recessive progeroid diseases.

Samson C et al.

Nucleic Acids Research, 2018

Nuclear envelopathies: a complex LINC between nuclear envelope and pathology.

Janin A et al.

Orphanet Journal of Rare Diseases, 2017

Barrier-to-autointegration factor (BAF) involvement in prelamin A-related chromatin organization changes.

Loi M et al.

Oncotarget, 2016

NF-κB activation impairs somatic cell reprogramming in ageing.

Soria-Valles C et al.

Nature Cell Biology, 2015

Barrier to Autointegration Factor (BANF1): interwoven roles in nuclear structure, genome integrity, innate immunity, stress responses and progeria.

Jamin A et al.

Current Opinion in Cell Biology, 2015

Néstor-Guillermo Progeria Syndrome: a biochemical insight into Barrier-to-Autointegration Factor 1, alanine 12 threonine mutation.

Paquet N et al.

Bmc Molecular Biology, 2014

Dephosphorylation of barrier-to-autointegration factor by protein phosphatase 4 and its role in cell mitosis.

Zhuang X et al.

The Journal of Biological Chemistry, 2014

Familial partial lipodystrophy, mandibuloacral dysplasia and restrictive dermopathy feature barrier-to-autointegration factor (BAF) nuclear redistribution.

Capanni C et al.

Cell Cycle (georgetown, Tex.), 2012

How to diagnose a lipodystrophy syndrome.

Vantyghem MC et al.

Annales D'endocrinologie, 2012

Cell autonomous and systemic factors in progeria development.

Osorio FG et al.

Biochemical Society Transactions, 2011

Néstor-Guillermo progeria syndrome: a novel premature aging condition with early onset and chronic development caused by BANF1 mutations.

Cabanillas R et al.

American Journal of Medical Genetics. Part A, 2011

Exome sequencing and functional analysis identifies BANF1 mutation as the cause of a hereditary progeroid syndrome.

Puente XS et al.

American Journal of Human Genetics, 2011

No interaction of barrier-to-autointegration factor (BAF) with HIV-1 MA, cone-rod homeobox (Crx) or MAN1-C in absence of DNA.

Huang Y et al.

Plos One, 2011

Barrier-to-Autointegration Factor influences specific histone modifications.

Montes de Oca R et al.

Nucleus (austin, Tex.), 0

The nuclear envelope LEM-domain protein emerin.

Berk JM et al.

Nucleus (austin, Tex.), 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."