Genetics of human heterotaxias (Q36298333)

13 August 2017

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title

Genetics of human heterotaxias (English)

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13 August 2017

2

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13 August 2017

Lirong Zhu

1

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13 August 2017

Stephanie M Ware

series ordinal

3

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13 August 2017

publication date

1 January 2006

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European Journal of Human Genetics

13 August 2017

published in

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13 August 2017

volume

14

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13 August 2017

issue

1

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13 August 2017

page(s)

17-25

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Breaking symmetry: a clinical overview of left-right patterning.

13 August 2017

cites work

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X-linked situs abnormalities result from mutations in ZIC3

21 January 2018

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Characterization and mutation analysis of human LEFTY A and LEFTY B, homologues of murine genes implicated in left-right axis development.

21 January 2018

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Loss-of-function mutations in the EGF-CFC gene CFC1 are associated with human left-right laterality defects

21 January 2018

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Left-right axis malformations associated with mutations in ACVR2B, the gene for human activin receptor type IIB

21 January 2018

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Missense mutations in CRELD1 are associated with cardiac atrioventricular septal defects

21 January 2018

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Two novel frameshift mutations in NKX2.5 result in novel features including visceral inversus and sinus venosus type ASD

21 January 2018

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Identification of a gene disrupted by inv(11)(q13.5;q25) in a patient with left-right axis malformation

21 January 2018

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Recurrent involvement of chromosomal region 6q21 in heterotaxy.

21 January 2018

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Situs ambiguus in a female fetus with balanced (X;21) translocation--evidence for functional nullisomy of the ZIC3 gene?

21 January 2018

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Polysplenia: a review of 146 cases

21 January 2018

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Asplenia syndrome: insight into embryology through an analysis of cardiac and extracardiac anomalies

21 January 2018

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21 January 2018

Cilia-related diseases

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Cilium-generated signaling and cilia-related disorders

21 January 2018

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CFC1 mutations in patients with transposition of the great arteries and double-outlet right ventricle

21 January 2018

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X-linked transposition of the great arteries and incomplete penetrance among males with a nonsense mutation in ZIC3.

21 January 2018

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Identification and functional analysis of ZIC3 mutations in heterotaxy and related congenital heart defects

21 January 2018

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Left-right asymmetry in embryonic development: a comprehensive review

21 January 2018

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Risk factors for heart disease associated with abnormal sidedness

21 January 2018

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Mechanisms of left-right determination in vertebrates

21 January 2018

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Molecular genetics of heterotaxy syndromes

21 January 2018

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Sequential transfer of left-right information during vertebrate embryo development

21 January 2018

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201506

Two populations of node monocilia initiate left-right asymmetry in the mouse

21 January 2018

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201506

Mutation of an axonemal dynein affects left–right asymmetry in inversus viscerum mice

21 January 2018

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201506

Abnormal nodal flow precedes situs inversus in iv and inv mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201506

Polaris, a protein involved in left-right axis patterning, localizes to basal bodies and cilia

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201506

Situs inversus and embryonic ciliary morphogenesis defects in mouse mutants lacking the KIF3A subunit of kinesin-II

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201506

Left-right asymmetry and kinesin superfamily protein KIF3A: new insights in determination of laterality and mesoderm induction by kif3A-/- mice analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201506

Randomization of left-right asymmetry due to loss of nodal cilia generating leftward flow of extraembryonic fluid in mice lacking KIF3B motor protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201506

Cilia-driven fluid flow in the zebrafish pronephros, brain and Kupffer's vesicle is required for normal organogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201506

Fluid-dynamical basis of the embryonic development of left-right asymmetry in vertebrates

21 January 2018

1 reference

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FGF-induced vesicular release of Sonic hedgehog and retinoic acid in leftward nodal flow is critical for left-right determination.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201506

The ion channel polycystin-2 is required for left-right axis determination in mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201506

Polycystins 1 and 2 mediate mechanosensation in the primary cilium of kidney cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201506

Perinatal lethality with kidney and pancreas defects in mice with a targetted Pkd1 mutation

21 January 2018

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201506

Polycystins and mechanosensation in renal and nodal cilia

21 January 2018

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201506

Conserved function for embryonic nodal cilia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201506

Kupffer's vesicle is a ciliated organ of asymmetry in the zebrafish embryo that initiates left-right development of the brain, heart and gut.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201506

Retinoic acid signalling links left-right asymmetric patterning and bilaterally symmetric somitogenesis in the zebrafish embryo

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201506

Gap junctions are involved in the early generation of left-right asymmetry

21 January 2018

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201506

Asymmetries in H+/K+-ATPase and cell membrane potentials comprise a very early step in left-right patterning

21 January 2018

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201506

Serotonin signaling is a very early step in patterning of the left-right axis in chick and frog embryos

21 January 2018

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PKCgamma regulates syndecan-2 inside-out signaling during xenopus left-right development.

21 January 2018

1 reference

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Ectodermal syndecan-2 mediates left-right axis formation in migrating mesoderm as a cell-nonautonomous Vg1 cofactor

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201506

Relationship between asymmetric nodal expression and the direction of embryonic turning

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201506

Notch activity induces Nodal expression and mediates the establishment of left-right asymmetry in vertebrate embryos

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201506

Notch signaling regulates left-right asymmetry determination by inducing Nodal expression

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201506

Notch activity acts as a sensor for extracellular calcium during vertebrate left-right determination

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201506

Left-right patterning of the mouse lateral plate requires nodal produced in the node

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201506

Nodal signaling in early vertebrate embryos: themes and variations

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201506

Conserved requirement for EGF-CFC genes in vertebrate left-right axis formation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201506

Nodal Signaling in Vertebrate Development

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201506

Two modes by which Lefty proteins inhibit nodal signaling

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201506

Lefty blocks a subset of TGFbeta signals by antagonizing EGF-CFC coreceptors

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201506

Mouse Lefty2 and zebrafish antivin are feedback inhibitors of nodal signaling during vertebrate gastrulation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201506

Nodal signaling induces the midline barrier by activating Nodal expression in the lateral plate

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201506

Multiple left-right asymmetry defects in Shh(-/-) mutant mice unveil a convergence of the shh and retinoic acid pathways in the control of Lefty-1

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201506

Morphogenesis of the murine node and notochordal plate

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201506

Two-step regulation of left-right asymmetric expression of Pitx2: initiation by nodal signaling and maintenance by Nkx2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201506

Identification of a Wnt/Dvl/beta-Catenin --> Pitx2 pathway mediating cell-type-specific proliferation during development

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201506

PITX2 isoform-specific regulation of atrial natriuretic factor expression: synergism and repression with Nkx2.5.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201506

A cellular framework for gut-looping morphogenesis in zebrafish.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201506

Retinoic acid coordinates somitogenesis and left-right patterning in vertebrate embryos

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201506

Retinoic acid controls the bilateral symmetry of somite formation in the mouse embryo

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201506

Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201506

Lifting the lid on Pandora's box: the Bardet-Biedl syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201506

Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201506

Prenatal diagnosis of cardiosplenic syndromes: a 10‐year experience

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201506

First-trimester fetal heart block: a marker for cardiac anomaly

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201506

Spectrum and outcome of atrioventricular septal defect in fetal life

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201506

Prenatal diagnosis of complete atrioventricular block associated with structural heart disease: combined experience of two tertiary care centers and review of the literature

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201506

Fetal complete heart block

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201506

Genotype-phenotype correlations in PCD patients carrying DNAH5 mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201506

Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201506

Homozygosity mapping of a gene locus for primary ciliary dyskinesia on chromosome 5p and identification of the heavy dynein chain DNAH5 as a candidate gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201506

Axonemal dynein intermediate-chain gene (DNAI1) mutations result in situs inversus and primary ciliary dyskinesia (Kartagener syndrome)

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201506

Congenital heart disease caused by mutations in the transcription factor NKX2-5

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201506

Determination of left–right patterning of the mouse embryo by artificial nodal flow

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201506

Analysis of visceral heterotaxy according to splenic status, appendage morphology, or both

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201506

7 January 2021

Aortic outflow obstruction in visceral heterotaxy: a study based on twenty postmortem cases

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201506

7 January 2021

Extracardiac anomalies in the heterotaxy syndromes with focus on anomalies of midline-associated structures

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201506

7 January 2021

Heterotaxy: associated conditions and hospital-based prevalence in newborns

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201506

7 January 2021

Clinical analysis of families with heart, midline, and laterality defects

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201506

7 January 2021

Intrauterine diagnosis of heterotaxy syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201506

7 January 2021

Identifiers

DOI

10.1038/SJ.EJHG.5201506

1 reference

Fatcat

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30 July 2022

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Fatcat ID

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Fatcat

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30 July 2022

mapped directly with Wikidata item

https://api.fatcat.wiki/v0/release/2f4pvlwbabhjvcb55txjc6awfa

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30 July 2022