ArticleHuman genetics2019
De novo and inherited loss-of-function variants of ATP2B2 are associated with rapidly progressive hearing impairment.
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Article in Human genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
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25citing papers in PubMed
1.4field-weighted citation impact, top 22% of its field
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Who cites it
25 citing papers in PubMed, 43 citations in OpenAlex.
- Synergistic SHH activation and BMP inhibition remodel progenitor niche for enhanced hair cell generation.Science China. Life sciences · 2026Article
- De novo variants in NPTN cause a neurodevelopmental disorder with autism and neuroplastin-PMCA hypofunction.Genome medicine · 2026Article
- Neurogenetic Disorders with Hearing Loss: Mechanisms, Classifications, and Emerging Insights.Current neurology and neuroscience reports · 2025Review
- Liquid-Liquid Phase Separation in Hereditary Hearing Loss.Neuroscience bulletin · 2025Review
- The RNA-binding protein TRIM71 is essential for hearing in humans and mice and times auditory sensory organ development.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- Immunotherapy Responsive Recurrent Post-Infectious Ataxia Associated With RecurrentNeurology. Genetics · 2025Article
- Consolidating the Role of Mutated ATP2B2 in Neurodevelopmental and Cerebellar Pathologies.Clinical genetics · 2025Article
- Exome variant prioritization in a large cohort of hearing-impaired individuals indicates IKZF2 to be associated with non-syndromic hearing loss and guides future research of unsolved cases.Human genetics · 2024Article
- Genetic analysis of 106 sporadic cases with hearing loss in the UAE population.Human genomics · 2024Article
- Expression assay of calcium signaling related lncRNAs in autism.Molecular biology reports · 2024Article
- Article
- Assessment of expression of calcium signaling related lncRNAs in epilepsy.Scientific reports · 2023Article
- Treatment of monogenic and digenic dominant genetic hearing loss by CRISPR-Cas9 ribonucleoprotein delivery in vivo.Nature communications · 2023Article
- The Shepherd and the Hunter: A Genomic Comparison of Italian Dog Breeds.Animals : an open access journal from MDPI · 2023Article
- Autosomal Dominant Non-Syndromic Hearing Loss (DFNA): A Comprehensive Narrative Review.Biomedicines · 2023Review
- Alternative splicing in shaping the molecular landscape of the cochlea.Frontiers in cell and developmental biology · 2023Review
- De novo variants are a common cause of genetic hearing loss.Genetics in medicine : official journal of the American College of Medical Genetics · 2022Article
- Calcium signaling in neurodevelopment and pathophysiology of autism spectrum disorders.Molecular biology reports · 2022Review
- Searching for the Molecular Basis of Partial Deafness.International journal of molecular sciences · 2022Article
- Cochlear supporting cells require GAS2 for cytoskeletal architecture and hearing.Developmental cell · 2021Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
20 authors at 4 institutions in 1 country.
Jeroen J SmitsHearing and Genes, Department of Otorhinolaryngology, Head and Neck Surgery, Radboud University Medical Center, Nijmegen, The Netherlands.ORCID http://orcid.org/0000-0002-4241-0900
Jaap OostrikHearing and Genes, Department of Otorhinolaryngology, Head and Neck Surgery, Radboud University Medical Center, Nijmegen, The Netherlands.
Andy J BeynonHearing and Genes, Department of Otorhinolaryngology, Head and Neck Surgery, Radboud University Medical Center, Nijmegen, The Netherlands.
Sarina G KantDepartment of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Pia A M de Koning GansDepartment of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Liselotte J C RotteveelDepartment of Otorhinolaryngology, Head and Neck Surgery, LUMC, Leiden, The Netherlands.
Jolien S Klein Wassink-RuiterDepartment of Clinical Genetics, University Medical Center Groningen, Groningen, The Netherlands.
Rolien H FreeDepartment of Otorhinolaryngology, Head and Neck Surgery, University Medical Center Groningen, Groningen, The Netherlands.
Saskia M MaasDepartment of Clinical Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.
Jiddeke van de KampDepartment of Clinical Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.
Paul MerkusDepartment of Otolaryngology, Head and Neck Surgery, Ear and Hearing, Amsterdam Public Health Research Institute, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.
DOOFNL Consortium
Wouter KooleHearing and Genes, Department of Human Genetics, Radboud University Medical Center, Internal postal code 855, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands.
Ilse FeenstraHearing and Genes, Department of Human Genetics, Radboud University Medical Center, Internal postal code 855, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands.
Ronald J C AdmiraalHearing and Genes, Department of Otorhinolaryngology, Head and Neck Surgery, Radboud University Medical Center, Nijmegen, The Netherlands.
Cornelis P LantingHearing and Genes, Department of Otorhinolaryngology, Head and Neck Surgery, Radboud University Medical Center, Nijmegen, The Netherlands.
Margit SchradersHearing and Genes, Department of Otorhinolaryngology, Head and Neck Surgery, Radboud University Medical Center, Nijmegen, The Netherlands.
Helger G YntemaDonders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
Ronald J E PenningsHearing and Genes, Department of Otorhinolaryngology, Head and Neck Surgery, Radboud University Medical Center, Nijmegen, The Netherlands.
Hannie KremerHearing and Genes, Department of Otorhinolaryngology, Head and Neck Surgery, Radboud University Medical Center, Nijmegen, The Netherlands. Hannie.Kremer@Radboudumc.nl.ORCID http://orcid.org/0000-0002-0841-8693
Radboud University Nijmegen · NLAmsterdam University Medical Centers · NLLeiden University Medical Center · NLUniversity Medical Center Groningen · NL
Funding
No grant is acknowledged in the PubMed record.
Abstract
ATP2B2 encodes the PMCA2 Ca
Indexed as
Genetic Predisposition to DiseaseMutationAdolescentAdultAgedBiomarkersChildChild, PreschoolFemaleFollow-Up StudiesHearing LossHeterozygoteHumansMaleMiddle AgedPedigreeATP2B2 protein, humanBiomarkersPlasma Membrane Calcium-Transporting ATPases
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Read underepoch 390
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.