Biallelic COL4A2 Variants Associated With Brain Small Vessel Disease and Brain Malformations
Clinical Genetics, Volume 109, Issue 2, Page 356-362, February 2026.Biallelic COL4A2 variants cause a spectrum of brain abnormalities such as brain small vessel disease (BSVD). We describe two cases—one with cerebrovascular disruption and one with cortical malformations—expanding the recessive phenotype. Protein modeling reveals destabilization by p.(Arg179Cys), reinforcing its pathogenic role and highlighting collagen
Anees Muhammad +11 more
wiley +1 more source
Iranian South Medical Journal, 2011 Background: Previous studies have shown that morphine consumption during pregnancy may delay embryo development or cause abnormal nervous system function.
Masoomeh Kazemi, Hedayat Sahraie
doaj
Hydrocephalus due to multiple ependymal malformations is caused by mutations in the MPDZ gene
Acta Neuropathologica Communications, 2017 Congenital hydrocephalus is considered as either acquired due to haemorrhage, infection or neoplasia or as of developmental nature and is divided into two subgroups, communicating and obstructive.
Pascale Saugier-Veber +13 more
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The choroid plexus water density
Magnetic Resonance in Medicine, Volume 95, Issue 1, Page 545-554, January 2026.Abstract Purpose To quantify normative ranges and circadian variability of the choroid plexus (ChP) water density in healthy adults. Methods Actigraphy assessments of circadian activity were performed for 5 days in healthy participants (n = 15; age = 28.5 ± 6.5 years) and subsequently participants underwent repeated, high spatial resolution proton ...
Abigail R. Dubois +8 more
wiley +1 more source
Electron microscopic investigation of X-irradiation effects on developing ependyma.
, 1978 Pregnant NMRI mice were X-irradiated with 1.0 Gy or 2.0 Gy. SEM and TEM studies were conducted on brains of the fetuses to observe the X-irradiation effects on developing ependyma.
Marquart, K.H. +2 more
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T cells can mediate viral clearance from ependyma but not from brain parenchyma in a major histocompatibility class I- and perforin-independent manner [PDF]
, 2017 Viral infection of the central nervous system can lead to disability and death. Yet the majority of viral infections with central nervous system involvement resolve with only mild clinical manifestations, if any. This is generally attributed to efficient
Merkler, Doron +6 more
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Ependyma: a new target for autoantibodies in neuromyelitis optica?
, 2022 Neuromyelitis optica (NMO) is an autoimmune demyelinating disease of the central nervous system characterized by the presence of autoantibodies (called NMO-IgG) targeting aquaporin-4.
Salin, Paul +12 more
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Region Specific Differences of Claudin-5 Expression in Pediatric Intracranial Ependymomas: Potential Prognostic Role in Supratentorial Cases [PDF]
, 2016 Ependymomas are common pediatric brain tumors that originate from the ependyma and characterized by poor prognosis due to frequent recurrence. However, the current WHO grading system fails to accurately predict outcome.
József Virág +30 more
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Ependymal cell lineage reprogramming as a potential therapeutic intervention for hydrocephalus
EMBO Molecular MedicineHydrocephalus is a common neurological condition, characterized by the excessive accumulation of cerebrospinal fluid in the cerebral ventricles. Primary treatments for hydrocephalus mainly involve neurosurgical cerebrospinal fluid diversion, which hold ...
Konstantina Kaplani +7 more
doaj +1 more source
Fetuin-A expression in controls.
, 2018 (Displayed are mean ± SE, individual scores for each case indicated by dots). In the cortex and adjacent white matter fetuin-A-positive cells were equally distributed in cortical and white matter structures.
Miriam Christina Heinen (5949740) +7 more
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