In vivo modeling of the morbid human genome using Danio rerio
about
Loss of Function Mutations in NNT Are Associated With Left Ventricular NoncompactionGain-of-function defects of astrocytic Kir4.1 channels in children with autism spectrum disorders and epilepsy.Missense mutations in TENM4, a regulator of axon guidance and central myelination, cause essential tremorIn vivo Modeling Implicates APOL1 in Nephropathy: Evidence for Dominant Negative Effects and Epistasis under Anemic StressSMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.A truncating mutation in CEP55 is the likely cause of MARCH, a novel syndrome affecting neuronal mitosis.Partial uniparental isodisomy of chromosome 16 unmasks a deleterious biallelic mutation in IFT140 that causes Mainzer-Saldino syndrome.A novel ribosomopathy caused by dysfunction of RPL10 disrupts neurodevelopment and causes X-linked microcephaly in humans.Clinical and genetic diversity of SMN1-negative proximal spinal muscular atrophiesCLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorderDosage changes of a segment at 17p13.1 lead to intellectual disability and microcephaly as a result of complex genetic interaction of multiple genes.Targeted exon sequencing in Usher syndrome type IBRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomalies.Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome.Interpreting human genetic variation with in vivo zebrafish assays.Mutations in the endothelin receptor type A cause mandibulofacial dysostosis with alopeciaIdentification of cis-suppression of human disease mutations by comparative genomics.Mutations in Either TUBB or MAPRE2 Cause Circumferential Skin Creases Kunze TypeA t(5;16) translocation is the likely driver of a syndrome with ambiguous genitalia, facial dysmorphism, intellectual disability, and speech delay.Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl SyndromeMutations in TMEM260 Cause a Pediatric Neurodevelopmental, Cardiac, and Renal Syndrome.Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations.2017 Curt Stern Award: The Complexity of Simple Genetics.Novel CASK mutations in cases with syndromic microcephaly.A hypomorphic inherited pathogenic variant in DDX3X causes male intellectual disability with additional neurodevelopmental and neurodegenerative features.
P2860
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P2860
In vivo modeling of the morbid human genome using Danio rerio
description
2013 nî lūn-bûn
@nan
2013 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2013 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
2013年の論文
@ja
2013年論文
@yue
2013年論文
@zh-hant
2013年論文
@zh-hk
2013年論文
@zh-mo
2013年論文
@zh-tw
2013年论文
@wuu
name
In vivo modeling of the morbid human genome using Danio rerio
@ast
In vivo modeling of the morbid human genome using Danio rerio
@en
type
label
In vivo modeling of the morbid human genome using Danio rerio
@ast
In vivo modeling of the morbid human genome using Danio rerio
@en
prefLabel
In vivo modeling of the morbid human genome using Danio rerio
@ast
In vivo modeling of the morbid human genome using Danio rerio
@en
P2093
P2860
P356
P1476
In vivo modeling of the morbid human genome using Danio rerio
@en
P2093
Adrienne R Niederriter
Edwin C Oh
Erica E Davis
I-Chun Tsai
Nicholas Katsanis
P2860
P304
P356
10.3791/50338
P577
2013-08-24T00:00:00Z