Congenital hydrocephalus: a review of recent advances in genetic etiology and molecular mechanisms
XY Liu, X Song, M Czosnyka, C Robba… - Military Medical …, 2024 - Springer
The global prevalence rate for congenital hydrocephalus (CH) is approximately one out of
every five hundred births with multifaceted predisposing factors at play. Genetic influences …
every five hundred births with multifaceted predisposing factors at play. Genetic influences …
Genetic and molecular mechanisms of hydrocephalus
X Deng, Y Chen, Q Duan, J Ding, Z Wang… - Frontiers in Molecular …, 2025 - frontiersin.org
Hydrocephalus is a neurological condition caused by aberrant circulation and/or obstructed
cerebrospinal fluid (CSF) flow after cerebral ventricle abnormal dilatation. In the past 50 …
cerebrospinal fluid (CSF) flow after cerebral ventricle abnormal dilatation. In the past 50 …
Human CRB1 and CRB2 form homo-and heteromeric protein complexes in the retina
IF Stehle, JA Imventarza, F Woerz… - Life Science …, 2024 - life-science-alliance.org
Crumbs homolog 1 (CRB1) is one of the key genes linked to retinitis pigmentosa and Leber
congenital amaurosis, which are characterized by a high clinical heterogeneity. The Crumbs …
congenital amaurosis, which are characterized by a high clinical heterogeneity. The Crumbs …
Integrating Prenatal Exome Sequencing and Ultrasonographic Fetal Phenotyping for Assessment of Congenital Malformations: High Molecular Diagnostic Yield and …
SH El‐Dessouky, WE Sharaf‐Eldin… - Clinical …, 2025 - Wiley Online Library
To evaluate the diagnostic yield of prenatal exome sequencing (pES) in fetuses with
structural anomalies detected by prenatal ultrasound in a consanguineous population. This …
structural anomalies detected by prenatal ultrasound in a consanguineous population. This …
MPDZ is associated with immune infiltration and regulates migration and invasion by switching YAP1 phosphorylation in colorectal cancer
Z Chen, Y Ba, N Zhao, Q Dang, H Xu, S Weng… - Cellular …, 2024 - Elsevier
Abstract Background Multiple PDZ Domain Crumbs Cell Polarity Complex Component
(MPDZ) is involved in a few human cancers. However, the features and potential …
(MPDZ) is involved in a few human cancers. However, the features and potential …
Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy
E Banks, V Francis, SJ Lin, F Kharfallah… - Nature …, 2024 - nature.com
Developmental and epileptic encephalopathies (DEEs) feature altered brain development,
developmental delay and seizures, with seizures exacerbating developmental delay. Here …
developmental delay and seizures, with seizures exacerbating developmental delay. Here …
Entosis implicates a new role for P53 in microcephaly pathogenesis, beyond apoptosis
NA Sterling, SH Cho, S Kim - BioEssays, 2024 - Wiley Online Library
Entosis, a form of cell cannibalism, is a newly discovered pathogenic mechanism leading to
the development of small brains, termed microcephaly, in which P53 activation was found to …
the development of small brains, termed microcephaly, in which P53 activation was found to …
Effect of simvastatin on brain-derived neurotrophic factor (BDNF)/TrkB pathway in hippocampus of autism rat model
Y Chen, L Cai, Y Xu - Tropical Journal of Pharmaceutical Research, 2023 - ajol.info
Purpose: To study the effect of simvastatin on behavioral performance in a rat model of
autism, and its effect on hippocampal brain-derived BDNF-TrkB pathway. Methods: Twelve …
autism, and its effect on hippocampal brain-derived BDNF-TrkB pathway. Methods: Twelve …