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Drugs@FDA. U.S. Food and Drug Administration. U.S. Department of Health & Human Services. 2015
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A new frameshift mutation in L1CAM producing X-linked hydrocephalus.Mol Genet Genomic Med. 2020 Jan;8(1):e1031. doi: 10.1002/mgg3.1031. Epub 2019 Nov 22.
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Congenital hydrocephalus in genetically engineered mice.Vet Pathol. 2012 Jan;49(1):166-81. doi: 10.1177/0300985811415708. Epub 2011 Jul 11.
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Influence of Admission Blood Glucose in Predicting Outcome in Patients With Spontaneous Intracerebral Hematoma.Front Neurol. 2018 Aug 28;9:725. doi: 10.3389/fneur.2018.00725. eCollection 2018.
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The dynamic expression of aquaporins 1 and 4 in rats with hydrocephalus induced by subarachnoid haemorrhage.Folia Neuropathol. 2019;57(2):182-195. doi: 10.5114/fn.2019.86296.
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A proposed new contiguous gene syndrome on 8q consists of Branchio-Oto-Renal (BOR) syndrome, Duane syndrome, a dominant form of hydrocephalus and trapeze aplasia; implications for the mapping of the BOR gene.Hum Mol Genet. 1994 Oct;3(10):1859-66. doi: 10.1093/hmg/3.10.1859.
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CEP290 alleles in mice disrupt tissue-specific cilia biogenesis and recapitulate features of syndromic ciliopathies.Hum Mol Genet. 2015 Jul 1;24(13):3775-91. doi: 10.1093/hmg/ddv123. Epub 2015 Apr 9.
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Physiological role of collagen XVIII and endostatin.FASEB J. 2005 May;19(7):716-28. doi: 10.1096/fj.04-2134rev.
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A novel CSF-1R mutation in a family with hereditary diffuse leukoencephalopathy with axonal spheroids misdiagnosed as hydrocephalus.Neurogenetics. 2019 Aug;20(3):155-160. doi: 10.1007/s10048-019-00579-0. Epub 2019 May 16.
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Etiological heterogeneity of familial periventricular heterotopia and hydrocephalus.Brain Dev. 2004 Aug;26(5):326-34. doi: 10.1016/j.braindev.2003.09.004.
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Expression analysis of high mobility group box-1 protein (HMGB-1) in the cerebral cortex, hippocampus, and cerebellum of the congenital hydrocephalus (H-Tx) rat.Acta Neurochir Suppl. 2012;113:91-6. doi: 10.1007/978-3-7091-0923-6_19.
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Differential expression of stress response genes in the H-Tx rat model of congenital hydrocephalus.Brain Res Mol Brain Res. 2005 Aug 18;138(2):273-90. doi: 10.1016/j.molbrainres.2005.05.002.
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Intraventricular injection of antibodies to beta1-integrins generates pressure gradients in the brain favoring hydrocephalus development in rats.Am J Physiol Regul Integr Comp Physiol. 2009 Nov;297(5):R1312-21. doi: 10.1152/ajpregu.00307.2009. Epub 2009 Sep 2.
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Loss of cell adhesion causes hydrocephalus in nonmuscle myosin II-B-ablated and mutated mice.Mol Biol Cell. 2007 Jun;18(6):2305-12. doi: 10.1091/mbc.e07-01-0073. Epub 2007 Apr 11.
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The Utility of CSF Xpert MTB/RIF in Diagnosis of Tubercular Meningitis in Children.Indian J Pediatr. 2019 Dec;86(12):1089-1093. doi: 10.1007/s12098-019-03032-0. Epub 2019 Jul 19.
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Biosynthesis of Wdr16, a marker protein for kinocilia-bearing cells, starts at the time of kinocilia formation in rat, and wdr16 gene knockdown causes hydrocephalus in zebrafish.J Neurochem. 2007 Apr;101(1):274-88. doi: 10.1111/j.1471-4159.2007.04500.x.
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Thrombin disrupts vascular endothelial-cadherin and leads to hydrocephalus via protease-activated receptors-1 pathway.CNS Neurosci Ther. 2019 Oct;25(10):1142-1150. doi: 10.1111/cns.13129. Epub 2019 Apr 7.
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SLC20A2 Deficiency in Mice Leads to Elevated Phosphate Levels in Cerbrospinal Fluid and Glymphatic Pathway-Associated Arteriolar Calcification, and Recapitulates Human Idiopathic Basal Ganglia Calcification.Brain Pathol. 2017 Jan;27(1):64-76. doi: 10.1111/bpa.12362. Epub 2016 May 6.
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Targeting Germinal Matrix Hemorrhage-Induced Overexpression of Sodium-Coupled Bicarbonate Exchanger Reduces Posthemorrhagic Hydrocephalus Formation in Neonatal Rats.J Am Heart Assoc. 2018 Jan 31;7(3):e007192. doi: 10.1161/JAHA.117.007192.
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Severe biallelic loss-of-function mutations in nicotinamide mononucleotide adenylyltransferase 2 (NMNAT2) in two fetuses with fetal akinesia deformation sequence.Exp Neurol. 2019 Oct;320:112961. doi: 10.1016/j.expneurol.2019.112961. Epub 2019 May 25.
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Impaired folate 1-carbon metabolism causes formate-preventable hydrocephalus in glycine decarboxylase-deficient mice.J Clin Invest. 2020 Mar 2;130(3):1446-1452. doi: 10.1172/JCI132360.
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A mutation in Ccdc39 causes neonatal hydrocephalus with abnormal motile cilia development in mice.Development. 2018 Jan 9;145(1):dev154500. doi: 10.1242/dev.154500.
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A novel L1CAM mutation with L1 spectrum disorders.Prenat Diagn. 2005 Jan;25(1):57-9. doi: 10.1002/pd.978.
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Pleiotropic effects of alpha-SNAP M105I mutation on oocyte biology: ultrastructural and cellular changes that adversely affect female fertility in mice.Sci Rep. 2019 Nov 22;9(1):17374. doi: 10.1038/s41598-019-53574-8.
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Genotyping of friesian horses to detect a hydrocephalus-associated c.1423C>T mutation in B3GALNT2 using PCR-RFLP and PCR-PIRA methods: Frequency in stallion horses in Mxico.Mol Cell Probes. 2017 Apr;32:69-71. doi: 10.1016/j.mcp.2016.12.005. Epub 2016 Dec 21.
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Constitutive Cyclin O deficiency results in penetrant hydrocephalus, impaired growth and infertility.Oncotarget. 2017 Oct 12;8(59):99261-99273. doi: 10.18632/oncotarget.21818. eCollection 2017 Nov 21.
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Nuclear factor I X deficiency causes brain malformation and severe skeletal defects. Mol Cell Biol. 2007 May;27(10):3855-3867. doi: 10.1128/MCB.02293-06.
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| 28 |
Mutations in the AP1S2 gene encoding the sigma 2 subunit of the adaptor protein 1 complex are associated with syndromic X-linked mental retardation with hydrocephalus and calcifications in basal ganglia. J Med Genet. 2007 Nov;44(11):739-44. doi: 10.1136/jmg.2007.051334. Epub 2007 Jul 6.
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Deficiency of UDP-galactose:N-acetylglucosamine beta-1,4-galactosyltransferase I causes the congenital disorder of glycosylation type IId. J Clin Invest. 2002 Mar;109(6):725-33. doi: 10.1172/JCI14010.
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Bi-allelic mutations of CCDC88C are a rare cause of severe congenital hydrocephalus.Am J Med Genet A. 2018 Mar;176(3):676-681. doi: 10.1002/ajmg.a.38592. Epub 2018 Jan 17.
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X-linked VACTERL with hydrocephalus syndrome: further delineation of the phenotype caused by FANCB mutations. Am J Med Genet A. 2011 Oct;155A(10):2370-80. doi: 10.1002/ajmg.a.33913. Epub 2011 Sep 9.
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Worldwide distribution and broader clinical spectrum of muscle-eye-brain disease. Hum Mol Genet. 2003 Mar 1;12(5):527-34. doi: 10.1093/hmg/ddg043.
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Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome. Am J Hum Genet. 2012 Sep 7;91(3):541-7. doi: 10.1016/j.ajhg.2012.07.009.
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Validation of a Predictive Scoring System for Ventriculoperitoneal Shunt Insertion After Aneurysmal Subarachnoid Hemorrhage.World Neurosurg. 2018 Jan;109:e210-e216. doi: 10.1016/j.wneu.2017.09.140. Epub 2017 Sep 28.
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ADAMTS9 and ADAMTS20 are differentially affected by loss of B3GLCT in mouse model of Peters plus syndrome.Hum Mol Genet. 2019 Dec 15;28(24):4053-4066. doi: 10.1093/hmg/ddz225.
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Mutations of ADAMTS9 Cause Nephronophthisis-Related Ciliopathy. Am J Hum Genet. 2019 Jan 3;104(1):45-54. doi: 10.1016/j.ajhg.2018.11.003.
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Targeted deletion of alpha-adducin results in absent beta- and gamma-adducin, compensated hemolytic anemia, and lethal hydrocephalus in mice.Blood. 2008 Nov 15;112(10):4298-307. doi: 10.1182/blood-2008-05-156000. Epub 2008 Aug 22.
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[ARX--one gene--many phenotypes].Neurol Neurochir Pol. 2008 Jul-Aug;42(4):338-44.
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Knockdown of Bardet-Biedl syndrome gene BBS9/PTHB1 leads to cilia defects.PLoS One. 2012;7(3):e34389. doi: 10.1371/journal.pone.0034389. Epub 2012 Mar 29.
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Nearly complete deletion of BubR1 causes microcephaly through shortened mitosis and massive cell death.Hum Mol Genet. 2019 Jun 1;28(11):1822-1836. doi: 10.1093/hmg/ddz022.
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| 41 |
Genotype-phenotype correlation in CC2D2A-related Joubert syndrome reveals an association with ventriculomegaly and seizures.J Med Genet. 2012 Feb;49(2):126-37. doi: 10.1136/jmedgenet-2011-100552.
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Characterization of CCDC28B reveals its role in ciliogenesis and provides insight to understand its modifier effect on Bardet-Biedl syndrome.Hum Genet. 2013 Jan;132(1):91-105. doi: 10.1007/s00439-012-1228-5. Epub 2012 Sep 27.
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Pathological characteristics of Ccdc85c knockout rats: a rat model of genetic hydrocephalus.Exp Anim. 2020 Jan 29;69(1):26-33. doi: 10.1538/expanim.19-0005. Epub 2019 Jul 23.
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A Novel CCND2 Mutation in a Previously Reported Case of Megalencephaly and Perisylvian Polymicrogyria with Postaxial Polydactyly and Hydrocephalus.Neuropediatrics. 2018 Jun;49(3):222-224. doi: 10.1055/s-0038-1641722. Epub 2018 Apr 11.
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Centrin 2 is required for mouse olfactory ciliary trafficking and development of ependymal cilia planar polarity.J Neurosci. 2014 Apr 30;34(18):6377-88. doi: 10.1523/JNEUROSCI.0067-14.2014.
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A human laterality disorder associated with a homozygous WDR16 deletion. Eur J Hum Genet. 2015 Sep;23(9):1262-5. doi: 10.1038/ejhg.2014.265. Epub 2014 Dec 3.
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Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.Muscle Nerve. 2017 May;55(5):761-765. doi: 10.1002/mus.25416. Epub 2017 Feb 3.
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Mitochondrial complex IV deficiency, caused by mutated COX6B1, is associated with encephalomyopathy, hydrocephalus and cardiomyopathy.Eur J Hum Genet. 2015 Feb;23(2):159-64. doi: 10.1038/ejhg.2014.85. Epub 2014 Apr 30.
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Expansion of phenotype and genotypic data in CRB2-related syndrome.Eur J Hum Genet. 2016 Oct;24(10):1436-44. doi: 10.1038/ejhg.2016.24. Epub 2016 Mar 23.
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Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of -dystroglycan.Nat Genet. 2012 May;44(5):581-5. doi: 10.1038/ng.2253.
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Failure of epithelial tube maintenance causes hydrocephalus and renal cysts in Dlg5-/- mice.Dev Cell. 2007 Sep;13(3):338-50. doi: 10.1016/j.devcel.2007.07.017.
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Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia. Nat Genet. 2012 Mar 4;44(4):381-9, S1-2. doi: 10.1038/ng.1106.
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Cilia-related diseases.J Pathol. 2004 Nov;204(4):470-7. doi: 10.1002/path.1652.
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A specific, nonproliferative role for E2F-5 in choroid plexus function revealed by gene targeting.Genes Dev. 1998 Apr 15;12(8):1092-8. doi: 10.1101/gad.12.8.1092.
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Incidence and impact of sepsis on long-term outcomes after subarachnoid hemorrhage: a prospective observational study.Ann Intensive Care. 2019 Aug 20;9(1):94. doi: 10.1186/s13613-019-0562-3.
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Impaired neural differentiation and glymphatic CSF flow in the Ccdc39 rat model of neonatal hydrocephalus: genetic interaction with L1cam.Dis Model Mech. 2019 Nov 21;12(11):dmm040972. doi: 10.1242/dmm.040972.
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VACTERL with hydrocephalus in twins due to Fanconi anemia (FA): mutation in the FAC gene.Am J Med Genet. 1997 Jan 10;68(1):86-90.
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De Novo Mutations in FOXJ1 Result in a Motile Ciliopathy with Hydrocephalus and Randomization of Left/Right Body Asymmetry. Am J Hum Genet. 2019 Nov 7;105(5):1030-1039. doi: 10.1016/j.ajhg.2019.09.022. Epub 2019 Oct 17.
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"Isolated" hydrocephalus in families of spina bifida and anencephaly: a coincidence?.Neuropediatrics. 1989 Nov;20(4):220-2. doi: 10.1055/s-2008-1071297.
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Impaired methylation modifications of FZD3 alter chromatin accessibility and are involved in congenital hydrocephalus pathogenesis.Brain Res. 2014 Jun 20;1569:48-56. doi: 10.1016/j.brainres.2014.04.010. Epub 2014 May 2.
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Glypican 3 and glypican 4 are juxtaposed in Xq26.1.Gene. 1998 Dec 28;225(1-2):9-16. doi: 10.1016/s0378-1119(98)00549-6.
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Alternative variants of human HYDIN are novel cancer-associated antigens recognized by adaptive immunity.Cancer Immunol Res. 2013 Sep;1(3):190-200. doi: 10.1158/2326-6066.CIR-13-0079. Epub 2013 Jul 5.
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Cranioectodermal Dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene. Am J Hum Genet. 2010 Jun 11;86(6):949-56. doi: 10.1016/j.ajhg.2010.04.012. Epub 2010 May 20.
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Essential Role of Linx/Islr2 in the Development of the Forebrain Anterior Commissure.Sci Rep. 2018 May 8;8(1):7292. doi: 10.1038/s41598-018-24064-0.
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Murine MPDZ-linked hydrocephalus is caused by hyperpermeability of the choroid plexus.EMBO Mol Med. 2019 Jan;11(1):e9540. doi: 10.15252/emmm.201809540.
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New syndrome of hydrocephalus, endocardial fibroelastosis, and cataracts (HEC syndrome).Am J Med Genet. 1995 Mar 13;56(1):62-6. doi: 10.1002/ajmg.1320560114.
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Neogenin Recruitment of the WAVE Regulatory Complex to Ependymal and Radial Progenitor Adherens Junctions Prevents Hydrocephalus.Cell Rep. 2017 Jul 11;20(2):370-383. doi: 10.1016/j.celrep.2017.06.051.
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NME5 frameshift variant in Alaskan Malamutes with primary ciliary dyskinesia.PLoS Genet. 2019 Sep 3;15(9):e1008378. doi: 10.1371/journal.pgen.1008378. eCollection 2019 Sep.
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Convergent extension movements and ciliary function are mediated by ofd1, a zebrafish orthologue of the human oral-facial-digital type 1 syndrome gene.Hum Mol Genet. 2009 Jan 15;18(2):289-303. doi: 10.1093/hmg/ddn356. Epub 2008 Oct 29.
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PAK3 mutations responsible for severe intellectual disability and callosal agenesis inhibit cell migration.Neurobiol Dis. 2020 Mar;136:104709. doi: 10.1016/j.nbd.2019.104709. Epub 2019 Dec 14.
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Ciliogenesis is regulated by a huntingtin-HAP1-PCM1 pathway and is altered in Huntington disease.J Clin Invest. 2011 Nov;121(11):4372-82. doi: 10.1172/JCI57552. Epub 2011 Oct 10.
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Alcohol consumption impairs the ependymal cilia motility in the brain ventricles.Sci Rep. 2017 Oct 20;7(1):13652. doi: 10.1038/s41598-017-13947-3.
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Pathogenic homozygous variant in POMK gene is the cause of prenatally detected severe ventriculomegaly in two Lithuanian families.Am J Med Genet A. 2020 Mar;182(3):536-542. doi: 10.1002/ajmg.a.61453. Epub 2019 Dec 12.
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Clinical long-time course, novel mutations and genotype-phenotype correlation in a cohort of 27 families with POMT1-related disorders.Orphanet J Rare Dis. 2019 Jul 16;14(1):179. doi: 10.1186/s13023-019-1119-0.
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Prdm16 is required for the maintenance of neural stem cells in the postnatal forebrain and their differentiation into ependymal cells.Genes Dev. 2017 Jun 1;31(11):1134-1146. doi: 10.1101/gad.291773.116. Epub 2017 Jul 11.
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Genetic deletion of Rnd3 results in aqueductal stenosis leading to hydrocephalus through up-regulation of Notch signaling.Proc Natl Acad Sci U S A. 2013 May 14;110(20):8236-41. doi: 10.1073/pnas.1219995110. Epub 2013 Apr 29.
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Targeted deletion of the AAA-ATPase Ruvbl1 in mice disrupts ciliary integrity and causes renal disease and hydrocephalus.Exp Mol Med. 2018 Jun 28;50(6):1-17. doi: 10.1038/s12276-018-0108-z.
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Localization, Occurrence, and CSF Changes of SP-G, a New Surface Active Protein with Assumable Immunoregulatory Functions in the CNS.Mol Neurobiol. 2019 Apr;56(4):2433-2439. doi: 10.1007/s12035-018-1247-x. Epub 2018 Jul 21.
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Rheologically Essential Surfactant Proteins of the CSF Interacting with Periventricular White Matter Changes in Hydrocephalus Patients - Implications for CSF Dynamics and the Glymphatic System.Mol Neurobiol. 2019 Nov;56(11):7863-7871. doi: 10.1007/s12035-019-01648-z. Epub 2019 May 24.
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Haploinsufficiency of MeCP2-interacting transcriptional co-repressor SIN3A causes mild intellectual disability by affecting the development of cortical integrity. Nat Genet. 2016 Aug;48(8):877-87. doi: 10.1038/ng.3619. Epub 2016 Jul 11.
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A recurrent de novo missense pathogenic variant in SMARCB1 causes severe intellectual disability and choroid plexus hyperplasia with resultant hydrocephalus.Genet Med. 2019 Mar;21(3):572-579. doi: 10.1038/s41436-018-0079-4. Epub 2018 Jun 15.
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SNX27 Deletion Causes Hydrocephalus by Impairing Ependymal Cell Differentiation and Ciliogenesis.J Neurosci. 2016 Dec 14;36(50):12586-12597. doi: 10.1523/JNEUROSCI.1620-16.2016.
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Endoscopic ventriculo-cisterno-ventricular approach in the treatment of bilateral trapped temporal horn related to fungal infection in a child: case report and review of the literature.Childs Nerv Syst. 2018 Aug;34(8):1593-1597. doi: 10.1007/s00381-018-3776-z. Epub 2018 Mar 20.
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Hydrocephalus in a rat model of Meckel Gruber syndrome with a TMEM67 mutation.Sci Rep. 2019 Jan 31;9(1):1069. doi: 10.1038/s41598-018-37620-5.
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Initial experience with endoscopic ultrasonic aspirator in purely neuroendoscopic removal of intraventricular tumors.J Neurosurg Pediatr. 2017 Mar;19(3):325-332. doi: 10.3171/2016.10.PEDS16352. Epub 2017 Jan 13.
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Absence of BBSome function leads to astrocyte reactivity in the brain.Mol Brain. 2019 May 9;12(1):48. doi: 10.1186/s13041-019-0466-z.
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Dysfunction of axonemal dynein heavy chain Mdnah5 inhibits ependymal flow and reveals a novel mechanism for hydrocephalus formation.Hum Mol Genet. 2004 Sep 15;13(18):2133-41. doi: 10.1093/hmg/ddh219. Epub 2004 Jul 21.
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Combined effects of aquaporin-4 and hypoxia produce age-related hydrocephalus.Biochim Biophys Acta Mol Basis Dis. 2018 Oct;1864(10):3515-3526. doi: 10.1016/j.bbadis.2018.08.006. Epub 2018 Aug 8.
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Cilia-related protein SPEF2 regulates osteoblast differentiation.Sci Rep. 2018 Jan 16;8(1):859. doi: 10.1038/s41598-018-19204-5.
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