ArticleAmerican journal of human genetics2018
MPZL2, Encoding the Epithelial Junctional Protein Myelin Protein Zero-like 2, Is Essential for Hearing in Man and Mouse.
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Article in American journal of human genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers, 1 of them a synthesis that pooled it.
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32citing papers in PubMed, 1 pooled it
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Who cites it
32 citing papers in PubMed, 1 synthesis or guideline pooled it, 49 citations in OpenAlex.
- Genes linked to hearing and vestibular phenotypes in humans and mice: an interspecies systematic review.Human genomics · 2025Pooled it
- Characterization of Ocular Developmental Disorders in the Israeli Population: Genotype-Phenotype Correlations and Novel Candidate Genes.Biomolecules · 2026Article
- Transcriptional states define dependencies and therapeutic vulnerabilities in head and neck cancer.NPJ precision oncology · 2026Article
- Gene supplementation with precise transgene expression rescues hearing loss in a mouse model with an Mpzl2 East Asian founder variant.Molecular therapy : the journal of the American Society of Gene Therapy · 2026Article
- Shared molecular mechanisms of vascular endothelial cells in psoriasis and diabetes comorbidity.Postepy dermatologii i alergologii · 2026Article
- Subtype-Specific Dependencies and Drug Vulnerabilities Enable Precision Therapeutics in Head and Neck Cancer.bioRxiv : the preprint server for biology · 2025Article
- PAM-flexible adenine base editing rescues hearing loss in a humanized MPZL2 mouse model harboring an East Asian founder mutation.Nature communications · 2025Article
- EVA1-antibody drug conjugate is a new therapeutic strategy for eliminating glioblastoma-initiating cells.Neuro-oncology · 2025Article
- Hearing restoration by gene replacement therapy for a multisite-expressed gene in a mouse model of human DFNB111 deafness.American journal of human genetics · 2024Article
- Chromosome-level genome and population genomics of the intermediate horseshoe bat (Zoological research · 2024Article
- MPZL2-a common autosomal recessive deafness gene related to moderate sensorineural hearing loss in the Chinese population.BMC medical genomics · 2024Article
- [Genetic characteristic analysis of slight-to-moderate sensorineural hearing loss in children].Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery · 2024Article
- Extended Exposure Topotecan Significantly Improves Long-Term Drug Sensitivity by Decreasing Malignant Cell Heterogeneity and by Preventing Epithelial-Mesenchymal Transition.International journal of molecular sciences · 2023Article
- Development of a basement membrane gene signature and identification of the potential candidate therapeutic targets for pancreatic cancer.Gland surgery · 2023Article
- Stepwise fate conversion of supporting cells to sensory hair cells in the chick auditory epithelium.iScience · 2023Article
- ARNSHL gene identification: past, present and future.Molecular genetics and genomics : MGG · 2022Review
- A novelLaryngoscope investigative otolaryngology · 2022Article
- A basement membrane discovery pipeline uncovers network complexity, regulators, and human disease associations.Science advances · 2022Article
- Exploring the missing heritability in subjects with hearing loss, enlarged vestibular aqueducts, and a single or no pathogenic SLC26A4 variant.Human genetics · 2022Article
- HADH may be the target molecule of early vascular endothelial impairment in T2DM.Frontiers in cardiovascular medicine · 2022Article
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Authors and funding
30 authors at 6 institutions in 4 countries.
Mieke WesdorpHearing and Genes Division, Department of Otorhinolaryngology, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands; The Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.
Silvia Murillo-CuestaInstitute of Biomedical Research "Alberto Sols," Spanish National Research Council-Autonomous University of Madrid, 28029 Madrid, Spain; Center for Biomedical Network Research in Rare Diseases, Institute of Health Carlos III, 28029 Madrid, Spain; Hospital La Paz Institute for Health Research, 28029 Madrid, Spain.
Theo PetersHearing and Genes Division, Department of Otorhinolaryngology, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.
Adelaida M CelayaInstitute of Biomedical Research "Alberto Sols," Spanish National Research Council-Autonomous University of Madrid, 28029 Madrid, Spain; Center for Biomedical Network Research in Rare Diseases, Institute of Health Carlos III, 28029 Madrid, Spain.
Anne OonkHearing and Genes Division, Department of Otorhinolaryngology, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.
Margit SchradersHearing and Genes Division, Department of Otorhinolaryngology, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.
Jaap OostrikHearing and Genes Division, Department of Otorhinolaryngology, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.
Elena Gomez-RosasCenter for Biomedical Network Research in Rare Diseases, Institute of Health Carlos III, 28029 Madrid, Spain; Servicio de Genetica, Hospital Universitario Ramon y Cajal, Instituto Ramón y Cajal de Investigación Sanitaria, Madrid, Spain.
Andy J BeynonHearing and Genes Division, Department of Otorhinolaryngology, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.
Bas P HartelHearing and Genes Division, Department of Otorhinolaryngology, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.
Kees OkkersenDonders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands; Department of Neurology, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.
Hans J P M KoenenLaboratory of Medical Immunology, Department of Laboratory Medicine, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.
Jack WeedaDepartment of Ophthalmology, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.
Stefan LelieveldThe Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.
Nicol C VoermansDonders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands; Department of Neurology, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.
Irma JoostenLaboratory of Medical Immunology, Department of Laboratory Medicine, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.
Carel B HoyngDonders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands; Department of Ophthalmology, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.
Peter LichtnerInstitute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany.
Henricus P M KunstHearing and Genes Division, Department of Otorhinolaryngology, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands; Radboud Institute of Health Sciences, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.
Ilse FeenstraDepartment of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.
Suzanne E de BruijnDepartment of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.
DOOFNL ConsortiumDonders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.
Ronald J C AdmiraalHearing and Genes Division, Department of Otorhinolaryngology, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.
Helger G YntemaDepartment of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.
Erwin van WijkHearing and Genes Division, Department of Otorhinolaryngology, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.
Ignacio Del CastilloCenter for Biomedical Network Research in Rare Diseases, Institute of Health Carlos III, 28029 Madrid, Spain; Servicio de Genetica, Hospital Universitario Ramon y Cajal, Instituto Ramón y Cajal de Investigación Sanitaria, Madrid, Spain.
Pau SerraInstitut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), 08036 Barcelona, Spain.
Isabel Varela-NietoInstitute of Biomedical Research "Alberto Sols," Spanish National Research Council-Autonomous University of Madrid, 28029 Madrid, Spain; Center for Biomedical Network Research in Rare Diseases, Institute of Health Carlos III, 28029 Madrid, Spain; Hospital La Paz Institute for Health Research, 28029 Madrid, Spain.
Ronald J E PenningsHearing and Genes Division, Department of Otorhinolaryngology, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.
Hannie KremerHearing and Genes Division, Department of Otorhinolaryngology, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands. Electronic address: hannie.kremer@radboudumc.nl.
Radboud University Nijmegen · NLInstituto de Salud Carlos III · ESConsorci Institut D'Investigacions Biomediques August Pi I Sunyer · ESHelmholtz Zentrum München · DEInstituto Ramón y Cajal de Investigación Sanitaria · ESSpanish Clinical Research Network · ES
Funding
No grant is acknowledged in the PubMed record.
Abstract
In a Dutch consanguineous family with recessively inherited nonsyndromic hearing impairment (HI), homozygosity mapping combined with whole-exome sequencing revealed a MPZL2 homozygous truncating variant, c.72del (p.Ile24Metfs
Indexed as
AnimalsCell AdhesionCell Adhesion MoleculesCochleaDeafnessEpitheliumFemaleHair Cells, AuditoryHearingHearing Loss, SensorineuralHomozygoteHumansMaleMiceMice, Inbred C57BLMutationCell Adhesion MoleculescochleadeafnessDeiters cellshair cellshearing impairmenthumanmouseMPZL2
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