EphB1 and EphB2 intracellular domains regulate the formation of the corpus callosum and anterior commissure

Robichaux, Michael A.; Chenaux, George; Ho, Hsin Yi Henry; Soskis, Michael J.; Greenberg, Michael E.; Henkemeyer, Mark; Cowan, Christopher W.

doi:10.1002/dneu.22323

Cited by 17 publications

(21 citation statements)

References 41 publications

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“…3q22.3 (case 3), 20p12.1 detected in three cases (477, 472 and 4), (Table ) were found in combination with a pathogenic CNV, and 21q22.3 (case 120, Table ) is referred in decipher.…”

Section: Discussionmentioning

confidence: 94%

Recurrent copy number variations as risk factors for autism spectrum disorders: analysis of the clinical implications

et al. 2016

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Chromosomal microarray analysis (CMA) is currently considered a first-tier diagnostic assay for the investigation of autism spectrum disorders (ASD), developmental delay and intellectual disability of unknown etiology. High-resolution arrays were utilized for the identification of copy number variations (CNVs) in 195 ASD patients of Greek origin (126 males, 69 females). CMA resulted in the detection of 65 CNVs, excluding the known polymorphic copy number polymorphisms also found in the Database of Genomic Variants, for 51/195 patients (26.1%). Parental DNA testing in 20/51 patients revealed that 17 CNVs were de novo, 6 paternal and 3 of maternal origin. The majority of the 65 CNVs were deletions (66.1%), of which 5 on the X-chromosome while the duplications, of which 7 on the X-chromosome, were rarer (22/65, 33.8%). Fifty-one CNVs from a total of 65, reported for our cohort of ASD patients, were of diagnostic significance and well described in the literature while 14 CNVs (8 losses, 6 gains) were characterized as variants of unknown significance and need further investigation. Among the 51 patients, 39 carried one CNV, 10 carried two CNVs and 2 carried three CNVs. The use of CMA, its clinical validity and utility was assessed.

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“…3q22.3 (case 3), 20p12.1 detected in three cases (477, 472 and 4), (Table ) were found in combination with a pathogenic CNV, and 21q22.3 (case 120, Table ) is referred in decipher.…”

Section: Discussionmentioning

confidence: 94%

Recurrent copy number variations as risk factors for autism spectrum disorders: analysis of the clinical implications

et al. 2016

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“…Several other studies highlight the broad significance for Eph-ephrin signaling in determining whether axons cross the midline 53 – 56 . Eph family molecules play key roles in establishing the crossed projections of the central nervous system 54 , 57 . Repulsion from ephrins expressed at the midline may serve to limit crossing projections spatially 58 or temporally 53 .…”

Section: Axon Guidancementioning

confidence: 99%

Eph-ephrin signaling in nervous system development

Cramer

Miko

2016

F1000Res

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Ephrins and Eph receptors enable contact-mediated interactions between cells at every stage of nervous system development. In spite of their broad binding affinities, Eph proteins facilitate specificity in neuronal migration and axon targeting. This review focuses on recent studies that demonstrate how these proteins interact with each other, and with other signaling pathways, to guide specificity in a diverse set of developmental processes.

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“…It is possible that these receptors might share the genetic pathway, as the combination of heterozygous mutation of one receptor with the homozygous mutation of the other presented with a stronger phenotype of the homozygous gene [ 20 ]. Heterozygous mutations alone did not present with any ACC [ 19 ].…”

Section: Resultsmentioning

confidence: 99%

Corpus Callosum Agenesis: An Insight into the Etiology and Spectrum of Symptoms

et al. 2020

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Brain hemispheres are connected by commissural structures, which consist of white matter fiber tracts that spread excitatory stimuli to various regions of the cortex. This allows an interaction between the two cerebral halves. The largest commissure is the corpus callosum (CC) which is located inferior to the longitudinal fissure, serving as its lower border. Sometimes this structure is not completely developed, which results in the condition known as agenesis of the corpus callosum (ACC). The aim of this paper was to review the latest discoveries related to the genetic and metabolic background of ACC, including the genotype/phenotype correlations as well as the clinical and imaging symptomatology. Due to various factors, including genetic defects and metabolic diseases, the development of CC may be impaired in many ways, which results in complete or partial ACC. This creates several clinical implications, depending on the specificity of the malformation and other defects in patients. Epilepsy, motor impairment and intellectual disability are the most prevalent. However, an asymptomatic course of the disease is even more common. ACC presents with characteristic images on ultrasound and magnetic resonance imaging (MRI).

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EphB1 and EphB2 intracellular domains regulate the formation of the corpus callosum and anterior commissure

Cited by 17 publications

References 41 publications

Recurrent copy number variations as risk factors for autism spectrum disorders: analysis of the clinical implications

Recurrent copy number variations as risk factors for autism spectrum disorders: analysis of the clinical implications

Eph-ephrin signaling in nervous system development

Corpus Callosum Agenesis: An Insight into the Etiology and Spectrum of Symptoms

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