(Q57137187)

1

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Thierry Sluysmans

2

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Mark Jorissen

3

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Mustapha Amyere

European Journal of Human Genetics

4

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publication date

26 April 2006

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published in

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volume

14

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issue

7

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page(s)

809-815

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exact match

https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5201631

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cites work

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

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

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

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X-linked situs abnormalities result from mutations in ZIC3

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Mutations of the Connexin43 gap-junction gene in patients with heart malformations and defects of laterality

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Missense mutations in CRELD1 are associated with cardiac atrioventricular septal defects

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

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

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Identification of dynein heavy chain 7 as an inner arm component of human cilia that is synthesized but not assembled in a case of primary ciliary dyskinesia

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Mutations in the DNAH11 (axonemal heavy chain dynein type 11) gene cause one form of situs inversus totalis and most likely primary ciliary dyskinesia

21 January 2018

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Long homozygous chromosomal segments in reference families from the centre d'Etude du polymorphisme humain

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Mapping of sudden infant death with dysgenesis of the testes syndrome (SIDDT) by a SNP genome scan and identification of TSPYL loss of function

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A gene for inherited cutaneous venous anomalies ("glomangiomas") localizes to chromosome 1p21-22.

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

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

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Loss-of-function mutations in a human gene related to Chlamydomonas reinhardtii dynein IC78 result in primary ciliary dyskinesia.

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

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Drivers and passengers wanted! the role of kinesin-associated proteins

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

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

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Proteomic analysis of a eukaryotic cilium

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Identification of predicted human outer dynein arm genes: candidates for primary ciliary dyskinesia genes

21 January 2018

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PA26 is a candidate gene for heterotaxia in humans: identification of a novel PA26-related gene family in human and mouse

21 January 2018

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