Left-right axis malformations associated with mutations in ACVR2B, the gene for human activin receptor type IIB
about
Axonemal dynein intermediate-chain gene (DNAI1) mutations result in situs inversus and primary ciliary dyskinesia (Kartagener syndrome)Identification 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 holoprosencephalyDefining the role of essential genes in human diseaseOf mice and men: molecular genetics of congenital heart diseaseA human laterality disorder caused by a homozygous deleterious mutation in MMP21Ott1 (Rbm15) is essential for placental vascular branching morphogenesis and embryonic development of the heart and spleenThe molecular basis of vascular disordersBilateral renal agenesis/hypoplasia/dysplasia (BRAHD): postmortem analysis of 45 cases with breakpoint mapping of two de novo translocationsThe determination factors of left-right asymmetry disorders- a short review.Mutation analysis of left-right axis determining genes in NOD and ICR, strains susceptible to maternal diabetes.Review of genetic factors in intestinal malrotation.Genetic basis of congenital cardiovascular malformationsLeft-right asymmetry and cardiac looping: implications for cardiac development and congenital heart disease.Asymmetry: molecular, biologic, embryopathic, and clinical perspectives.Classification of left-right patterning defects in zebrafish, mice, and humans.The genetic relationship between handedness and neurodevelopmental disorders.Duplication and deletion of CFC1 associated with heterotaxy syndromeRare copy number variations in congenital heart disease patients identify unique genes in left-right patterning.Identification and functional characterization of NODAL rare variants in heterotaxy and isolated cardiovascular malformations.Changing Faces of Transcriptional Regulation Reflected by Zic3New Genetic Insights into Congenital Heart Disease.Genetics of human heterotaxias.Ccdc11 is a novel centriolar satellite protein essential for ciliogenesis and establishment of left-right asymmetry.Mutations of TGFbeta signaling molecules in human disease.Mutations in ZIC3 and ACVR2B are a common cause of heterotaxy and associated cardiovascular anomalies.Anaesthetic Management for Appendectomy in a Patient with Situs Inversus Totalis.Left-right asymmetry in gut development: what happens next?Cardiac outflow tract anomalies.Follow your gut: relaying information from the site of left-right symmetry breaking in the mouse.From zebrafish heart jogging genes to mouse and human orthologs: using Gene Ontology to investigate mammalian heart development.Mechanism responsible for D-transposition of the great arteries: Is this part of the spectrum of right isomerism?Fetal Situs, Isomerism, Heterotaxy Syndrome: Diagnostic Evaluation and Implication for Postnatal Management.N-linked glycosylation of the bone morphogenetic protein receptor type 2 (BMPR2) enhances ligand binding.Functional study of DAND5 variant in patients with Congenital Heart Disease and laterality defectsMutations in CCDC11, which encodes a coiled-coil containing ciliary protein, causes situs inversus due to dysmotility of monocilia in the left-right organizer.Gene-dosage-sensitive genetic interactions between inversus viscerum (iv), nodal, and activin type IIB receptor (ActRIIB) genes in asymmetrical patterning of the visceral organs along the left-right axis.Laterality disturbance and hypopituitarism. A case report of co-existing situs inversus totalis and combined pituitary hormone deficiency.A Homozygous Nme7 Mutation Is Associated with Situs Inversus Totalis.Copy number variation as a genetic basis for heterotaxy and heterotaxy-spectrum congenital heart defects.
P2860
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P2860
Left-right axis malformations associated with mutations in ACVR2B, the gene for human activin receptor type IIB
description
1999 nî lūn-bûn
@nan
1999 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
1999 թվականի հունվարին հրատարակված գիտական հոդված
@hy
1999年の論文
@ja
1999年論文
@yue
1999年論文
@zh-hant
1999年論文
@zh-hk
1999年論文
@zh-mo
1999年論文
@zh-tw
1999年论文
@wuu
name
Left-right axis malformations ...... uman activin receptor type IIB
@ast
Left-right axis malformations ...... uman activin receptor type IIB
@en
Left-right axis malformations ...... uman activin receptor type IIB
@en-gb
Left-right axis malformations ...... uman activin receptor type IIB
@nl
type
label
Left-right axis malformations ...... uman activin receptor type IIB
@ast
Left-right axis malformations ...... uman activin receptor type IIB
@en
Left-right axis malformations ...... uman activin receptor type IIB
@en-gb
Left-right axis malformations ...... uman activin receptor type IIB
@nl
prefLabel
Left-right axis malformations ...... uman activin receptor type IIB
@ast
Left-right axis malformations ...... uman activin receptor type IIB
@en
Left-right axis malformations ...... uman activin receptor type IIB
@en-gb
Left-right axis malformations ...... uman activin receptor type IIB
@nl
P2093
P2860
P1476
Left-right axis malformations ...... uman activin receptor type IIB
@en
P2093
J A Towbin
P2860
P356
10.1002/(SICI)1096-8628(19990101)82:1<70::AID-AJMG14>3.0.CO;2-Y
P407
P577
1999-01-01T00:00:00Z