About: Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly

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About: Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly Goto Sponge NotDistinct Permalink

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scientific article published on 21 April 2013

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rdf:type	Item
description	videnskabelig artikel (da) article científic (ca) articolo scientifico (it) artigo científico (pt) bilimsel makale (tr) vedecký článok (sk) vetenskaplig artikel (sv) vědecký článek (cs) wetenschappelijk artikel (nl) wissenschaftlicher Artikel (de) научни чланак (sr) article scientifique (fr) artículu científicu espublizáu en 2013 (ast) наукова стаття, опублікована у квітні 2013 (uk) scientific article published on 21 April 2013 (en) مقالة علمية نشرت في 21 أبريل 2013 (ar)
publication date	wds:Q37304298-3FF1F4FD-F5D6-43C9-9E8B-7B052E21D28F
publication date	2013-04-21 00:00:00Z (xsd:dateTime)
language of work or name	wds:Q37304298-9E11A3DD-CE64-40B9-A492-FDA51EF4198E
language of work or name	English
exact match	wds:Q37304298-53FC75A6-872E-4D1D-877A-3F9ED0684527
exact match	https://scigraph.springernature.com/pub.10.1038/ng.2613
cites work	wds:Q37304298-09555B47-7AB5-4168-A493-1D2AAF9EA7AA wds:Q37304298-128026E8-D636-42FB-889F-0102C7BC9D4B wds:Q37304298-130D7F2B-AE3B-4175-9C0C-0DEBDC52AB5E wds:Q37304298-141CE208-24B6-4375-8EAF-D009F7C9F14A wds:Q37304298-175B87B2-69D9-4DB6-B4A4-EDC415FD9EB0 wds:Q37304298-21EDB3C6-F0BA-459B-A4FC-789ACD977BFD wds:Q37304298-274FEA5E-794F-4034-B2C9-712457679F90 wds:Q37304298-347ED0C6-8CBE-44AE-87CC-608485CB5EAC wds:Q37304298-3AF669C3-D183-485F-9913-151D44E57936 wds:Q37304298-3E2F4058-6046-4F26-8EEC-D5524A6322B8 wds:Q37304298-46C875A4-FF75-4AD8-A428-6634EBB74B8F wds:Q37304298-499BF082-A548-4ED2-85B4-0919C53366E0 wds:Q37304298-52C1A4C2-A34D-452F-9B97-55B60F589B83 wds:Q37304298-5809FBC7-1DBB-41EB-BD40-BE4326A73260 wds:Q37304298-639FA4EC-D165-4414-9E18-A716139E23EB wds:Q37304298-6F92167D-12A6-4948-B13C-8D1405B64894 wds:Q37304298-73A282CF-A826-443E-8D6D-D8EC3EBA16E4 wds:Q37304298-78D8B61D-27C8-4285-AF7E-8F219B135B54 wds:Q37304298-7984282E-A866-43E9-BC36-98C232C222C1 wds:Q37304298-7B2D89B6-FA58-4502-A5A1-ABEB86962F91 wds:Q37304298-7B86AC72-05EF-410E-BAB9-1E95296AC5EF wds:Q37304298-81738C52-3F7D-42E1-A5A7-905A771E33B0 wds:Q37304298-85B4BF31-D21F-4248-B596-C5DF0107F04C wds:Q37304298-8A2F60E7-7412-48E5-97CF-12EA59A5FF64 wds:Q37304298-8A4D1AFA-A669-4F92-AB60-0A33E1385FDA wds:Q37304298-9491342F-F842-4752-8FE3-3E6D5E52B217 wds:Q37304298-94F5677E-E13F-4C19-8A62-36BEB266A756 wds:Q37304298-9520C712-20E9-41D2-936A-80C301359343 wds:Q37304298-96DF418B-D7D6-4DDC-8441-F1183BCFA555 wds:Q37304298-984DF62A-425F-404D-BD0B-ACDF93ADF1AD wds:Q37304298-990FF65D-AD9B-43EC-B40E-EF83F2628C63 wds:Q37304298-A2713E1A-A5EC-4399-B771-09F98A9608FD wds:Q37304298-A5FA4D64-5546-49C0-B0BB-20D0672118C0 wds:Q37304298-B007957A-E1DC-468B-B1F0-5F7F850FB3D5 wds:Q37304298-B63485C4-759B-4E76-A9FB-D3173695699D wds:Q37304298-B72AAC85-7B66-4F6C-8674-ADC098CEBB79 wds:Q37304298-B89D884C-005D-43F7-BF3F-EAA346440288 wds:Q37304298-B9E2656B-CC70-4500-932B-BD8C183C7576 wds:Q37304298-BB1617C0-F0A0-4F2F-B8D1-4C538E7715F5 wds:Q37304298-BB909949-4759-4974-9BC7-7C207E084FBB wds:Q37304298-BDF85C5E-0FB0-4D29-994F-8F14BDB260B9 wds:Q37304298-BEE78D09-AD92-4EE9-809C-629EF3B0DBCB wds:Q37304298-C6CB2221-CEFD-46BE-8B9C-ECFEFC4813CA wds:Q37304298-C7544BA8-4A5B-4BE3-896C-FAD399EF8C40 wds:Q37304298-C8BDE6D0-71DE-4AA2-ADF8-BA18647CC289 wds:Q37304298-D22732F0-D67B-46CE-A734-039BD1E81472 wds:Q37304298-D2DE7708-026F-4D80-935B-6EBA4509E463 wds:Q37304298-D4A17F1C-9B9C-4A4A-8F76-288927358AB5 wds:Q37304298-ED3DE8CB-A7CD-433C-BBCA-5F73FC67314A wds:Q37304298-F21DE021-8574-40DB-8F1B-81E204E7ECA5 wds:Q37304298-F4A2CD5D-42AB-4BFE-A7DC-9F830FE98FDD wds:Q37304298-F60CCB7C-DCDD-4180-9B2B-BBB5EDF8FA56 wds:Q37304298-F7CB9724-1BBA-40F1-A728-36B45EA0A3FE wds:Q37304298-F9EFE480-1527-4BC6-825C-AAF9669363EB wds:Q37304298-FBD5A0B2-9AD0-4FC8-9B2F-2DC357981D7D
cites work	Ndel1 operates in a common pathway with LIS1 and cytoplasmic dynein to regulate cortical neuronal positioning Mutations in KIF11 cause autosomal-dominant microcephaly variably associated with congenital lymphedema and chorioretinopathy Use of T7 RNA polymerase to direct expression of cloned genes A cytoplasmic chaperonin that catalyzes beta-actin folding Specificity in chaperonin-mediated protein folding Structure and Functional Role of Dynein's Microtubule-Binding Domain Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm Mutations in the neuronal ß-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects Phenotypic spectrum of the tubulin-related disorders and functional implications of disease-causing mutations. Differences in the gyral pattern distinguish chromosome 17-linked and X-linked lissencephaly Cortical development: view from neurological mutants two decades later Chaperonin-mediated folding of vertebrate actin-related protein and gamma-tubulin Microtubule Assembly in the Absence of Added Nucleotides Human non-synonymous SNPs: server and survey The centrosome in neuronal development Microtubule nucleation by γ-tubulin complexes A developmental and genetic classification for malformations of cortical development: update 2012 Mutations in alpha-tubulin cause abnormal neuronal migration in mice and lissencephaly in humans Human disorders of cortical development: from past to present What disorders of cortical development tell us about the cortex: one plus one does not always make two A de novo paradigm for mental retardation. Diagnostic exome sequencing in persons with severe intellectual disability

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