Mutations in a human ROBO gene disrupt hindbrain axon pathway crossing and morphogenesis
about
Drosophila as a genetic and cellular model for studies on axonal growthDisruption of ROBO2 is associated with urinary tract anomalies and confers risk of vesicoureteral refluxCompartmentalization of visual centers in the Drosophila brain requires Slit and Robo proteinsBinding site for Robo receptors revealed by dissection of the leucine-rich repeat region of SlitHorizontal gaze palsy with progressive scoliosis: three novel ROBO3 mutations and descriptions of the phenotypes of four patientsAllelic diversity in human developmental neurogenetics: insights into biology and diseasePioneer longitudinal axons navigate using floor plate and Slit/Robo signalsHuman CHN1 mutations hyperactivate alpha2-chimaerin and cause Duane's retraction syndromeHorizontal gaze palsy with progressive scoliosis can result from compound heterozygous mutations in ROBO3Inhibition of medulloblastoma cell invasion by SlitGenetic dissection of the function of hindbrain axonal commissuresStructural and Functional Analysis of Slit and Heparin Binding to Immunoglobulin-like Domains 1 and 2 of Drosophila RoboThe transcription factor gene Nfib is essential for both lung maturation and brain developmentMirror movement-like defects in startle behavior of zebrafish dcc mutants are caused by aberrant midline guidance of identified descending hindbrain neuronsThe genetic basis of incomitant strabismus: consolidation of the current knowledge of the genetic foundations of diseaseWildervanck's syndrome and mirror movements: a congenital disorder of axon migration?Slits and Robos in the developing chicken inner earDiffusion imaging and tractography of congenital brain malformationsUnidirectional startle responses and disrupted left-right co-ordination of motor behaviors in robo3 mutant zebrafish.Patients with horizontal gaze palsy and progressive scoliosis due to ROBO3 E319K mutation have both uncrossed and crossed central nervous system pathways and perform normally on neuropsychological testing.Characterization of ocular motor deficits in congenital facial weakness: Moebius and related syndromes.Non cell-autonomous role of DCC in the guidance of the corticospinal tract at the midline.Neuropareidolia: diagnostic clues apropos of visual illusions.A mutant with bilateral whisker to barrel inputs unveils somatosensory mapping rules in the cerebral cortex.Clinical characterization of the HOXA1 syndrome BSAS variantTwo pedigrees segregating Duane's retraction syndrome as a dominant trait map to the DURS2 genetic locus.Human genetic disorders of axon guidance.Midline axon guidance and human genetic disorders.Deficiency of the chromatin regulator BRPF1 causes abnormal brain development.Slit2 inactivates GSK3β to signal neurite outgrowth inhibition.Activated satellite cells in medial rectus muscles of patients with strabismus.Investigation of the gene mutations in two Chinese families with X-linked infantile nystagmusGenome-wide association studies of adolescent idiopathic scoliosis suggest candidate susceptibility genes.Potential linkage of different phenotypic forms of childhood strabismus to a recessive susceptibility locus (16p13.12-p12.3)Recessive mutations in COL25A1 are a cause of congenital cranial dysinnervation disorderThe expression pattern of EVA1C, a novel Slit receptor, is consistent with an axon guidance role in the mouse nervous system.The corticofugal neuron-associated genes ROBO1, SRGAP1, and CTIP2 exhibit an anterior to posterior gradient of expression in early fetal human neocortex development.Lack of association between the CHL1 gene and adolescent idiopathic scoliosis susceptibility in Han Chinese: a case-control study.Ipsilateral hemiparesis caused by putaminal hemorrhage in a patient with horizontal gaze palsy with progressive scoliosis: a case report.Expansion of the CHN1 strabismus phenotype.
P2860
Q21203077-7DBB8FF8-CFDA-4DED-A455-C53F1DF5ABD9Q24300041-C2970828-B066-4524-927D-FEA97925F83AQ24532077-D295DCBC-BEDA-43D4-93EA-9B8231730530Q24561363-1F391A2E-20BE-44DC-8DAD-A9E167E1DB29Q24619637-B4199AB4-8729-45F1-A332-9FA71A114AA7Q24620889-F6DD7F57-C4C6-48E5-AAB0-254803F1AA32Q24647738-D028AD83-9572-4765-9CF5-843BCAD12745Q24650700-C777ED35-B36A-405E-8148-8B3064DAFA72Q24655864-B00C0D8A-AD0B-4F81-9B95-6C321E82F973Q24680387-A5874FC0-97F7-4591-95D1-CEEF66C9F129Q27324810-DC36FE6B-51DC-4B23-B0A6-B2F08081C1E5Q27650132-C4FD5D66-BCEA-4A51-9210-3D389563881FQ28593784-3785C896-9B6A-4A99-98A0-83554A698F30Q30432792-859220CD-F1A6-4FC2-B24F-2A1DDD26D4FCQ30434866-AAB0516B-BDA7-4AB7-9C0E-DE6B1F21BC20Q30455895-2A8D46A0-698D-44BB-80CA-E8AB41711718Q30482224-93537457-62BD-438A-8C95-97B7FA3289C8Q30484762-2A442747-6B7C-426C-914F-47D35735F536Q30486469-59CDD23A-0570-492B-B301-CE1D5658B4E3Q30487211-B398BD78-EB68-41CE-824F-A00826E8FAB4Q30574379-9957661D-FD8A-411D-B1FE-A9CEF1C43B76Q30849516-DA7D6CA8-B2FE-41F8-81C0-C4D8E8A1D422Q33523533-9FFC873B-0A58-403F-996A-70C4A2B94A99Q33602979-62144569-09CC-4C31-854C-0D841E1F8DB7Q33677376-02BE2026-5E7C-42A3-A9D0-ECAEA6EC4DC1Q33691037-45EEA452-AF9F-4841-ACCF-D26EB0264288Q33693788-04258C1C-DBB0-47D3-9ACE-470EA7762BABQ34194348-CD70CCD7-6187-435B-9F0B-E99600C0A078Q34457162-C49129CD-9426-4E11-9B81-FCABCC91C4B9Q34532498-B3890CA9-9C72-4B03-8DCC-24C8D12ADEA1Q34575408-4C810B30-6DDB-4DE1-AA26-46C6F9174DCEQ34589457-B55C6D2E-78A6-4DF5-A926-82DCA9A51D0AQ34627021-DDE28DD1-E601-4605-9FC7-5F018B3A55E6Q34882267-7C2BE38F-0747-41B2-B3DE-46BEC79BEF4BQ34902957-50ABF772-E718-429A-A790-555E075EDEB6Q34989791-9B9063A3-8C66-4CC5-862B-011C6147E2DBQ34992405-00661CD3-AFAE-4B64-AFDD-6E03134F1A83Q35089914-FDBB0884-88A0-44E7-ACB8-9F6081176198Q35166982-B286F3AB-794D-4509-A538-DF52DE39E7E1Q35221102-C16C4AA6-46C0-461C-9F40-7962C430578A
P2860
Mutations in a human ROBO gene disrupt hindbrain axon pathway crossing and morphogenesis
description
2004 nî lūn-bûn
@nan
2004 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
2004 թվականի հունիսին հրատարակված գիտական հոդված
@hy
2004年の論文
@ja
2004年論文
@yue
2004年論文
@zh-hant
2004年論文
@zh-hk
2004年論文
@zh-mo
2004年論文
@zh-tw
2004年论文
@wuu
name
Mutations in a human ROBO gene disrupt hindbrain axon pathway crossing and morphogenesis
@ast
Mutations in a human ROBO gene disrupt hindbrain axon pathway crossing and morphogenesis
@en
Mutations in a human ROBO gene disrupt hindbrain axon pathway crossing and morphogenesis
@en-gb
Mutations in a human ROBO gene disrupt hindbrain axon pathway crossing and morphogenesis
@nl
type
label
Mutations in a human ROBO gene disrupt hindbrain axon pathway crossing and morphogenesis
@ast
Mutations in a human ROBO gene disrupt hindbrain axon pathway crossing and morphogenesis
@en
Mutations in a human ROBO gene disrupt hindbrain axon pathway crossing and morphogenesis
@en-gb
Mutations in a human ROBO gene disrupt hindbrain axon pathway crossing and morphogenesis
@nl
prefLabel
Mutations in a human ROBO gene disrupt hindbrain axon pathway crossing and morphogenesis
@ast
Mutations in a human ROBO gene disrupt hindbrain axon pathway crossing and morphogenesis
@en
Mutations in a human ROBO gene disrupt hindbrain axon pathway crossing and morphogenesis
@en-gb
Mutations in a human ROBO gene disrupt hindbrain axon pathway crossing and morphogenesis
@nl
P2093
P2860
P50
P921
P3181
P356
P1433
P1476
Mutations in a human ROBO gene disrupt hindbrain axon pathway crossing and morphogenesis
@en
P2093
Andreas Plaitakis
Bent Stigsby
Caroline Andrews
Christina Pieh
David B MacDonald
David Shattuck
Doris D M Lin
Elias I Traboulsi
Elizabeth C Engle
Emmanuel K Dretakis
P2860
P304
P3181
P356
10.1126/SCIENCE.1096437
P407
P5008
P577
2004-06-04T00:00:00Z