Homozygous KIDINS220 loss-of-function variants in fetuses with cerebral ventriculomegaly and limb contractures-Reference-Cited by-同舟云学术

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Homozygous KIDINS220 loss-of-function variants in fetuses with cerebral ventriculomegaly and limb contractures

Published:2017-07-07 Issue:19 Volume:26 Page:3792-3796
ISSN:0964-6906
Container-title:Human Molecular Genetics
language:en
Short-container-title:

Author:

Mero I.-L.,Mørk H.H.,Sheng Y.,Blomhoff A.,Opheim G.L.,Erichsen Aa,Vigeland M.D.,Selmer K.K.

Publisher

Oxford University Press (OUP)

Subject

Genetics(clinical),Genetics,Molecular Biology,General Medicine

Link

http://academic.oup.com/hmg/article-pdf/26/19/3792/19947645/ddx263.pdf

Reference16 articles.

1. Kidins220/ARMS is an essential modulator of cardiovascular and nervous system development;Cell Death. Dis,2011

2. Ankyrin Repeat-rich Membrane Spanning/Kidins220 protein regulates dendritic branching and spine stability in vivo;Dev. Neurobiol,2009

3. Kidins220/ARMS mediates the integration of the neurotrophin and VEGF pathways in the vascular and nervous systems;Cell Death. Differ,2012

4. Heterozygous KIDINS220/ARMS nonsense variants cause spastic paraplegia, intellectual disability, nystagmus, and obesity;Hum. Mol. Genet,2016

5. Analysis of protein-coding genetic variation in 60,706 humans;Nature,2016

Cited by 27 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. A Novel KIDINS220 Pathogenic Variant Associated with the Syndromic Spastic Paraplegia SINO: An Expansion of the Brain Malformation Spectrum and a Literature Review;Genes;2024-09-10

2. Novel autosomal recessive SINO syndrome-associated KIDINS220 variants provide insight into the genotype-phenotype correlation;Heliyon;2024-09

3. NEXMIF Combined with KIDINS220 Gene Mutation Caused Neurodevelopmental Disorder and Epilepsy: One Case Report;Actas Españolas de Psiquiatría;2024-08-05

4. The genetic basis of hydrocephalus: genes, pathways, mechanisms, and global impact;Fluids and Barriers of the CNS;2024-03-04

5. Alterations in KIDINS220/ARMS Expression Impact Sensory Processing and Social Behavior in Adult Mice;International Journal of Molecular Sciences;2024-02-16

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