Loss-of-function mutations in the EGF-CFC gene CFC1 are associated with human left-right laterality defects
about
Axonemal dynein intermediate-chain gene (DNAI1) mutations result in situs inversus and primary ciliary dyskinesia (Kartagener syndrome)Cripto: a tumor growth factor and moreCripto-1 activates nodal- and ALK4-dependent and -independent signaling pathways in mammary epithelial CellsNew mutations in ZFPM2/FOG2 gene in tetralogy of Fallot and double outlet right ventricleDual roles of Cripto as a ligand and coreceptor in the nodal signaling pathway.SIX2 and BMP4 mutations associate with anomalous kidney developmentMissense mutations in CRELD1 are associated with cardiac atrioventricular septal defectsIdentification and functional analysis of ZIC3 mutations in heterotaxy and related congenital heart defects.Cumulative ligand activity of NODAL mutations and modifiers are linked to human heart defects and holoprosencephalyNodal morphogensLoss-of-function mutations in growth differentiation factor-1 (GDF1) are associated with congenital heart defects in humansLefty blocks a subset of TGFbeta signals by antagonizing EGF-CFC coreceptorsMutational analysis of the PITX2 coding region revealed no common cause for transposition of the great arteries (dTGA)The study of psychiatric disease genes and drugs in zebrafishTransposition of great arteries: new insights into the pathogenesisForelimb preferences in human beings and other species: multiple models for testing hypotheses on lateralizationBmp and nodal independently regulate lefty1 expression to maintain unilateral nodal activity during left-right axis specification in zebrafishEctopic expression of Cripto-1 in transgenic mouse embryos causes hemorrhages, fatal cardiac defects and embryonic lethality.A human laterality disorder caused by a homozygous deleterious mutation in MMP21Nodal signaling promotes the speed and directional movement of cardiomyocytes in zebrafishIntercellular transfer regulation of the paracrine activity of GPI-anchored Cripto-1 as a Nodal co-receptor.Holoprosencephaly.Improved human disease candidate gene prioritization using mouse phenotypeAnalysis of the asymmetrically expressed Ablim1 locus reveals existence of a lateral plate Nodal-independent left sided signal and an early, left-right independent role for nodal flowAnalysis of mutations in 7 candidate genes for dextro-Transposition of the great arteries in Chinese population.The determination factors of left-right asymmetry disorders- a short review.Hif1α down-regulation is associated with transposition of great arteries in mice treated with a retinoic acid antagonist.Review of genetic factors in intestinal malrotation.CFC1 mutations in patients with transposition of the great arteries and double-outlet right ventricle.Genetic basis of congenital cardiovascular malformationsLeft-right asymmetry and cardiac looping: implications for cardiac development and congenital heart disease.Midline and laterality defects: left and right meet in the middle.Duplication and deletion of CFC1 associated with heterotaxy syndromeVariants of the CFC1 gene in patients with laterality defects associated with congenital cardiac disease.Characterization of the glycosylphosphatidylinositol-anchor signal sequence of human Cryptic with a hydrophilic extension.Identification and functional characterization of NODAL rare variants in heterotaxy and isolated cardiovascular malformations.The human fetal venous system: normal embryologic, anatomic, and physiologic characteristics and developmental abnormalities.Zebrafish hearts and minds: nodal signaling in cardiac and neural left-right asymmetry.Cardiac left-right development: are the early steps conserved?Geometry of the Gene Expression Space of Individual Cells
P2860
Q24290886-272276B4-EB45-428E-B12D-F5FFC65242F1Q24292346-D38AF61F-87FF-474F-839A-8F3D37BC9968Q24292510-71CD03A8-BE19-4815-8B3B-29BB5BC691E8Q24298150-C1D1F7A0-1954-446F-8796-514C468ED8ABQ24299162-39053383-FBAB-474A-9B58-2C2A3F83E749Q24318341-70F7323B-DAFF-46F9-B8BB-8620E236DAFBQ24532094-21D14450-F267-4B29-98A6-94A1D2EA5D6FQ24533160-9DA4A1AE-C6C8-4B5B-8CCE-E658A83CECECQ24642861-8E1F4944-C32A-4818-8071-41AA0D9F7996Q24644638-7D17E8C0-B342-4721-BA08-F77DBC745A01Q24655626-93B56155-219C-47FB-A2B8-ADE21015D9E0Q24796038-97A8BED9-5AD6-4B96-9ED5-028C86DDC1E9Q24810253-6DCB67DB-AC3A-40F1-B645-E138140096F8Q26824671-62FE6D2D-B7FB-4EAF-B17F-E810E4CA8028Q26866024-98DC9376-5E16-4A48-A76B-B25A34DC15B0Q27008451-886314F3-79B1-41FD-BAC2-D90DF63B07C4Q27336050-09E733EA-D914-46D9-877C-55E307FF61AAQ27339754-5A5917F9-E3F9-48C9-9451-5E669491500AQ28118429-AA628B5E-9395-4E88-BEC1-5E018F9C773FQ30485674-05436790-CDAD-4BFB-B21D-4AFD8D544E2FQ30518810-A908BBFB-AA09-47F1-9B0D-C6602F295B8FQ31097430-63EBDB27-4F1F-4025-9168-212A31C788DBQ33302863-98AAE4A0-92BE-4894-B3CD-E94380983453Q33582701-B8D7DDB6-1E93-4119-9A1E-884B1C315C4EQ33586077-E775C4D4-125F-4065-BC2E-7348FA9D0871Q33693300-1B4E94BD-258D-470E-B7D8-B86874B15C42Q33693856-277A8300-FB8C-4035-AA53-586C77AA833DQ34013406-682A8877-D342-477E-A00D-7AE8F02E1ADDQ34110177-F5E70F15-69E4-4640-9537-5B4F8C9FED2EQ34125381-6922895B-4E8B-45A7-A559-EE4E6CFE6B34Q34263595-26EAA8B3-D674-44B4-A7D8-AFA910857468Q34400224-932FD30C-DFDF-420E-903A-B1DC1C81F4F8Q34449443-D107CFFA-17C5-476B-A38E-08DA85D3D2F7Q34620738-11191D03-CD23-4000-BB9F-46189FC7798EQ34859855-52F7CB4C-006A-4EA8-9D40-A14AC063BDDEQ34898379-368BA204-FEB7-466A-9103-D55F3A631BEDQ34945797-DB404065-0C81-4607-A133-645589478E22Q35176811-B52675AC-7F11-4791-966B-9CCAB6E183B2Q35176815-AED0ADCC-1229-419B-BA90-FCB2F460F3BCQ35688096-B12D29D1-B4E5-4E86-B0BD-C41F0BEA4C5C
P2860
Loss-of-function mutations in the EGF-CFC gene CFC1 are associated with human left-right laterality defects
description
2000 nî lūn-bûn
@nan
2000 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2000 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
2000年の論文
@ja
2000年論文
@yue
2000年論文
@zh-hant
2000年論文
@zh-hk
2000年論文
@zh-mo
2000年論文
@zh-tw
2000年论文
@wuu
name
Loss-of-function mutations in ...... left-right laterality defects
@ast
Loss-of-function mutations in ...... left-right laterality defects
@en
Loss-of-function mutations in ...... left-right laterality defects
@nl
type
label
Loss-of-function mutations in ...... left-right laterality defects
@ast
Loss-of-function mutations in ...... left-right laterality defects
@en
Loss-of-function mutations in ...... left-right laterality defects
@nl
prefLabel
Loss-of-function mutations in ...... left-right laterality defects
@ast
Loss-of-function mutations in ...... left-right laterality defects
@en
Loss-of-function mutations in ...... left-right laterality defects
@nl
P2093
P3181
P356
P1433
P1476
Loss-of-function mutations in ...... left-right laterality defects
@en
P2093
A F Schier
E Roessler
G B Ferrero
J A Goodship
J dela Cruz
P2888
P3181
P356
10.1038/81695
P407
P577
2000-11-01T00:00:00Z
P5875
P6179
1018491740