ArticleScientific reports2019
Hydrocephalus in a rat model of Meckel Gruber syndrome with a TMEM67 mutation.
Article in Scientific reports, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 29 citations in OpenAlex.
- Cleavage of the Meckel-Gruber syndrome protein TMEM67 by ADAMTS9 uncouples Wnt signaling and ciliogenesis.Nature communications · 2025Article
- NFκB1: a common biomarker linking Alzheimer's and Parkinson's disease pathology.Frontiers in neuroscience · 2025Article
- Choroid Plexus Pathophysiology.Annual review of pathology · 2025Review
- Congenital hydrocephalus: a review of recent advances in genetic etiology and molecular mechanisms.Military Medical Research · 2024Review
- The presence of a foramen of Luschka in the American alligator (Alligator mississippiensis) and the continuity of the intraventricular and subdural spaces.Journal of anatomy · 2024Article
- Inhibition of serum- and glucocorticoid-induced kinase 1 ameliorates hydrocephalus in preclinical models.Fluids and barriers of the CNS · 2023Article
- Developmental Toxicity Study of DL-4-Hydroxy-4-Phenylhexanamide (DL-HEPB) in Rats.Life (Basel, Switzerland) · 2023Article
- X-linked hydrocephalus genes: Their proximity to telomeres and high A + T content compared to Parkinson's disease.Experimental neurology · 2023Review
- Regulation of choroid plexus development and its functions.Cellular and molecular life sciences : CMLS · 2022Review
- Interpreting ciliopathy-associated missense variants of uncertain significance (VUS) in Caenorhabditis elegans.Human molecular genetics · 2022Article
- Drug-Targeted Genomes: Mutability of Ion Channels and GPCRs.Biomedicines · 2022Article
- A New Definition for Intracranial Compliance to Evaluate Adult Hydrocephalus After Shunting.Frontiers in bioengineering and biotechnology · 2022Article
- Ependymal Cilia: Physiology and Role in Hydrocephalus.Frontiers in molecular neuroscience · 2022Review
- TRPV4 mRNA is elevated in the caudate nucleus with NPH but not in Alzheimer's disease.Frontiers in genetics · 2022Article
- Boundary conditions investigation to improve computer simulation of cerebrospinal fluid dynamics in hydrocephalus patients.Communications biology · 2021Article
- Genes causing congenital hydrocephalus: Their chromosomal characteristics of telomere proximity and DNA compositions.Experimental neurology · 2021Review
- Article
- Memory deficits in Sprague Dawley rats with spontaneous ventriculomegaly.Brain and behavior · 2020Article
- MT1-MMP deficiency leads to defective ependymal cell maturation, impaired ciliogenesis, and hydrocephalus.JCI insight · 2020Article
Corrections and comments
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Authors and funding
10 authors at 4 institutions in 1 country.
Funding
Abstract
Transmembrane protein 67 (TMEM67) is mutated in Meckel Gruber Syndrome type 3 (MKS3) resulting in a pleiotropic phenotype with hydrocephalus and renal cystic disease in both humans and rodent models. The precise pathogenic mechanisms remain undetermined. Herein it is reported for the first time that a point mutation of TMEM67 leads to a gene dose-dependent hydrocephalic phenotype in the Wistar polycystic kidney (Wpk) rat. Animals with TMEM67 heterozygous mutations manifest slowly progressing hydrocephalus, observed during the postnatal period and continuing into adulthood. These animals have no overt renal phenotype. The TMEM67 homozygous mutant rats have severe ventriculomegaly as well as severe polycystic kidney disease and die during the neonatal period. Protein localization in choroid plexus epithelial cells indicates that aquaporin 1 and claudin-1 both remain normally polarized in all genotypes. The choroid plexus epithelial cells may have selectively enhanced permeability as evidenced by increased Na
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