Full spectrum of malformations in velo-cardio-facial syndrome/DiGeorge syndrome mouse models by altering Tbx1 dosage
about
Identification of a novel nuclear localization signal in Tbx1 that is deleted in DiGeorge syndrome patients harboring the 1223delC mutationHuman TBX1 missense mutations cause gain of function resulting in the same phenotype as 22q11.2 deletionsOf mice and men: molecular genetics of congenital heart diseaseHearing loss in a mouse model of 22q11.2 Deletion Syndrome.Structure and function of neonatal social communication in a genetic mouse model of autismMouse models for human otitis mediaModeling a model: Mouse genetics, 22q11.2 Deletion Syndrome, and disorders of cortical circuit developmentChimeric negative regulation of p14ARF and TBX1 by a t(9;22) translocation associated with melanoma, deafness, and DNA repair deficiencyCooperative function of Tbx1 and Brn4 in the periotic mesenchyme is necessary for cochlea formationConnexin 40, a target of transcription factor Tbx5, patterns wrist, digits, and sternum.Fgf8 expression in the Tbx1 domain causes skeletal abnormalities and modifies the aortic arch but not the outflow tract phenotype of Tbx1 mutantsEya4-deficient mice are a model for heritable otitis media.Bmp signaling regulates myocardial differentiation from cardiac progenitors through a MicroRNA-mediated mechanismGreat vessel development requires biallelic expression of Chd7 and Tbx1 in pharyngeal ectoderm in miceMesodermal expression of Tbx1 is necessary and sufficient for pharyngeal arch and cardiac outflow tract developmentA Tbx1-Six1/Eya1-Fgf8 genetic pathway controls mammalian cardiovascular and craniofacial morphogenesisEarly thyroid development requires a Tbx1-Fgf8 pathwayTissue-specific roles of Tbx1 in the development of the outer, middle and inner ear, defective in 22q11DS patients.MOZ regulates the Tbx1 locus, and Moz mutation partially phenocopies DiGeorge syndromeMesodermal Tbx1 is required for patterning the proximal mandible in miceDevelopmental expression patterns of Tbx1, Tbx2, Tbx5, and Tbx20 in Xenopus tropicalisTbx1: identification of a 22q11.2 gene as a risk factor for autism spectrum disorder in a mouse modelA 200-kb region of human chromosome 22q11.2 confers antipsychotic-responsive behavioral abnormalities in mice.Otic ablation of smoothened reveals direct and indirect requirements for Hedgehog signaling in inner ear development.Evidence for involvement of GNB1L in autism.Identification of putative retinoic acid target genes downstream of mesenchymal Tbx1 during inner ear developmentConditional and constitutive expression of a Tbx1-GFP fusion protein in mice.Beta-catenin deficiency causes DiGeorge syndrome-like phenotypes through regulation of Tbx1.Tbx1 modulates endodermal and mesodermal differentiation from mouse induced pluripotent stem cells.Decreased levels of embryonic retinoic acid synthesis accelerate recovery from arterial growth delay in a mouse model of DiGeorge syndromeA candidate gene approach to identify modifiers of the palatal phenotype in 22q11.2 deletion syndrome patients.Tbx1 is required autonomously for cell survival and fate in the pharyngeal core mesoderm to form the muscles of mastication.Mouse Models of 22q11.2-Associated Autism Spectrum DisorderThe role of Zic genes in inner ear development in the mouse: Exploring mutant mouse phenotypes.Jun is required in Isl1-expressing progenitor cells for cardiovascular developmentDiGeorge syndrome gene tbx1 functions through wnt11r to regulate heart looping and differentiationNK4 antagonizes Tbx1/10 to promote cardiac versus pharyngeal muscle fate in the ascidian second heart fieldA defect in early myogenesis causes Otitis media in two mouse models of 22q11.2 Deletion Syndrome.Cleft palate, retrognathia and congenital heart disease in velo-cardio-facial syndrome: a phenotype correlation study.TBX1 protein interactions and microRNA-96-5p regulation controls cell proliferation during craniofacial and dental development: implications for 22q11.2 deletion syndrome.
P2860
Q24294577-8FBB83E9-6378-43D2-99EC-D7BD5206440CQ24295078-A54FCEAC-428C-4958-BBA2-0487D5F287A4Q26995476-CFC989E0-D614-4DD1-BB07-CF6F439A0A21Q27302149-5451D58B-B121-4B6F-8A9F-2E9B07C0BC30Q27319537-21FA7E86-ABA8-45D5-A47E-F3C3C3D0FB48Q27491017-0761ACB7-70FA-4564-A4A6-A90C909300F7Q28081179-56B0074C-1322-434B-BFDF-C1CFB08F15D6Q28290365-DB2F4AC1-7B41-4CB5-88D8-03B1088CEC0BQ28506318-AA9A9036-4BE0-45E9-A69E-43050D4C77F2Q28508603-95CBBAB9-4133-4C47-810B-D466E8523F8BQ28513912-5A1061B8-37B7-4389-B9B8-FB854426C43DQ28585781-42B30C15-9B45-4E91-9179-A091669FF227Q28586556-74179D70-6179-4DD1-B2A6-B2EF2DDC86DAQ28586874-AB5AC7C7-1B84-44C2-A70F-BC86C95FD7C0Q28587491-A5652CE6-83AA-4222-804F-07914AA39420Q28589314-C1F047C8-10EE-4EFE-8A00-445217E72534Q28589620-8D74B356-DD92-441C-93A5-D6413F410D92Q28592076-B9D90C39-8F65-47FA-BAEC-96F72CA159B0Q28592234-AA08743B-3ED7-45C9-8939-B7A79586D155Q28592838-97D60712-393B-4DF1-A5D5-8F04B790FF3EQ30445713-E650A7D9-CAD7-4EF2-8DD3-D91584C1D0D5Q30459881-E933AA85-38E6-4720-8C93-813A257F7183Q30476572-1E9F94E6-C9DE-43F4-9333-36D6357F62E2Q30503629-F8D36647-A99E-4929-A3E7-0C4D1F7F6916Q30504581-7A6EFFAE-8C31-45C5-8C27-FA2ACE0F4D17Q30505432-568CE77C-1C6E-4FAD-A649-60DA5E4A3F68Q31126889-C553DF3F-E043-4D1C-AAF1-44DAB070EA0BQ33714238-20359177-6E5D-48A0-973A-F9EFF9942CE2Q33788869-8F76B548-DEF3-4C19-8D43-4934DC75CEBEQ33829670-DBF9A46A-7484-4FBD-8F94-7651B0919216Q33903341-3DDEED4D-C317-4438-9765-D48D34DC8FBBQ33920705-BC0F1E02-6FEB-4DAF-AA0C-FA61A92CF5DFQ33988040-1EE7D5BB-92DD-4660-96AB-9C77F95A4759Q34389035-2F5014A0-177B-4685-9AD2-E09B95A7FE97Q34599920-81147C76-1AEB-4590-B8B6-803A1431C039Q34637646-58CDE386-6B07-4168-B157-0137AA244F1BQ35060118-3E944BA4-39E1-4FE0-851A-87F8CA41745AQ35163449-72CC27D3-156E-4B93-A7BB-E3E4F9CE4DE0Q35182065-87E8774F-8F32-444B-BC8D-7B604D666B83Q35234113-C86704CE-CC37-48CC-AC0D-BD07A7C703DB
P2860
Full spectrum of malformations in velo-cardio-facial syndrome/DiGeorge syndrome mouse models by altering Tbx1 dosage
description
2004 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2004 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
artículu científicu espublizáu en 2004
@ast
im August 2004 veröffentlichter wissenschaftlicher Artikel
@de
scientific journal article
@en
vedecký článok (publikovaný 2004/08/01)
@sk
vědecký článek publikovaný v roce 2004
@cs
wetenschappelijk artikel (gepubliceerd op 2004/08/01)
@nl
наукова стаття, опублікована в серпні 2004
@uk
مقالة علمية (نشرت في أغسطس 2004)
@ar
name
Full spectrum of malformations ...... models by altering Tbx1 dosage
@ast
Full spectrum of malformations ...... models by altering Tbx1 dosage
@en
Full spectrum of malformations ...... models by altering Tbx1 dosage
@nl
type
label
Full spectrum of malformations ...... models by altering Tbx1 dosage
@ast
Full spectrum of malformations ...... models by altering Tbx1 dosage
@en
Full spectrum of malformations ...... models by altering Tbx1 dosage
@nl
prefLabel
Full spectrum of malformations ...... models by altering Tbx1 dosage
@ast
Full spectrum of malformations ...... models by altering Tbx1 dosage
@en
Full spectrum of malformations ...... models by altering Tbx1 dosage
@nl
P2093
P3181
P356
P1476
Full spectrum of malformations ...... models by altering Tbx1 dosage
@en
P2093
Bernice E. Morrow
Jelena S. Arnold
Jonathan A. Epstein
Lazaros Kochilas
M. Christian Brown
Sonja Nowotschin
Vimla S. Aggarwal
P304
P3181
P356
10.1093/HMG/DDH176
P577
2004-08-01T00:00:00Z