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Zic family member 3

HTX, Zic3, Heterotaxy, B-N
This gene encodes a member of the ZIC family of C2H2-type zinc finger proteins. This nuclear protein probably functions as a transcription factor in early stages of left-right body axis formation. Mutations in this gene cause X-linked visceral heterotaxy, which includes congenital heart disease and left-right axis defects in organs. [provided by RefSeq, Jul 2008] (from NCBI)
Top mentioned proteins: HAD, AGE, CAN, Cava, Midline
Papers on HTX
Expanding the Limits of Posterior Aortic Translocation: Biventricular Correction of Complex Transposition With Complete Atrioventricular Septal Defect and Heterotaxy.
Hraska et al., Nagoya, Japan. In Ann Thorac Surg, Feb 2016
This case report describes successful repair of d-transposition of the great arteries with severe left ventricular outflow tract obstruction and complete atrioventricular septal defect associated with heterotaxy by the use of posterior aortic translocation combined with repair of the atrioventricular septal defect and systemic venous anomalies.
Impact of Era, Type of Isomerism, and Ventricular Morphology on Survival in Heterotaxy: Implications for Therapeutic Management.
Anderson et al., Chicago, United States. In World J Pediatr Congenit Heart Surg, Jan 2016
BACKGROUND: Heterotaxy has been demonstrated to reduce survival.
Is Screening of Intestinal Foregut Anatomy in Heterotaxy Patients Really Necessary?: A Systematic Review in Search of the Evidence.
Losty et al., Manchester, United Kingdom. In Ann Surg, Jan 2016
OBJECTIVE: (1) Is screening of intestinal rotational anatomy obligatory in "asymptomatic" patients with heterotaxy?
Cardiac and Non-Cardiac Abnormalities in Heterotaxy Syndrome.
Mishra, India. In Indian J Pediatr, Dec 2015
Heterotaxy syndrome is a disorder in which there is a loss of normal left to right asymmetry of thoraco-abdominal viscera and their naturally proscribed spatial relationship.
Early- and Middle-Term Surgical Outcomes in Patients with Heterotaxy Syndrome.
Chen et al., Guangzhou, China. In Cardiology, Dec 2015
OBJECTIVES: Heterotaxy syndrome is a recognized risk factor for surgical cardiac interventions.
Neonatal Repair in a Patient With Heterotaxy, Truncus Arteriosus, Pulmonary Artery Sling, and Tracheal Stenosis.
McMurray et al., Madison, United States. In Ann Thorac Surg, Dec 2015
We present a newborn with heterotaxy features, multiple congenital anomalies, truncus arteriosus with long segment tracheal stenosis, and a left pulmonary artery sling.
MMP21 is mutated in human heterotaxy and is required for normal left-right asymmetry in vertebrates.
Gordon et al., Paris, France. In Nat Genet, Nov 2015
Heterotaxy results from a failure to establish normal left-right asymmetry early in embryonic development.
Heterotaxy Syndrome: Proceedings From the 10th International PCICS Meeting.
Chanani et al., Tampa, United States. In World J Pediatr Congenit Heart Surg, Oct 2015
A session dedicated to heterotaxy syndrome was included in the program of the Tenth International Conference of the Pediatric Cardiac Intensive Care Society in Miami, Florida in December 2014.
Chronic Arrhythmias in the Setting of Heterotaxy: Differences between Right and Left Isomerism.
Anderson et al., Milwaukee, United States. In Congenit Heart Dis, Aug 2015
UNASSIGNED: So-called heterotaxy affects lateralization of the thoracic and abdominal organs.
Heterotaxy Polysplenia Syndrome In An Adult With Unique Vascular Anomalies: Case Report With Review Of Literature.
Gupta et al., Muzaffarnagar, India. In J Radiol Case Rep, Jul 2015
The pattern of anatomical organization of the thoraco-abdominal visceral and vascular structures which is not the expected normal arrangement, is called as situs ambiguous or heterotaxy syndrome.
Fetal Magnetic Resonance Imaging of Malformations Associated with Heterotaxy.
Anderson et al., Newcastle, Australia. In Cureus, May 2015
Typically associated with complex congenital cardiac malformations, heterotaxy can also involve the central nervous system, and produce pulmonary, gastrointestinal, immunologic, and genitourinary malformations.
The heterotaxy gene GALNT11 glycosylates Notch to orchestrate cilia type and laterality.
Khokha et al., New Haven, United States. In Nature, 2014
Heterotaxy is a disorder of left-right body patterning, or laterality, that is associated with major congenital heart disease.
Preaxial polydactyly caused by Gli3 haploinsufficiency is rescued by Zic3 loss of function in mice.
Ware et al., Cincinnati, United States. In Hum Mol Genet, 2012
study demonstrates that Zic3 and Gli3 expression overlap in developing limbs and that Zic3 converts Gli3 from repressor to activator in vitro; results indicate two Gli superfamily members that cause disparate human congenital malformation syndromes interact genetically and demonstrate the importance of Zic3 in regulating Shh pathway in developing limbs
An essential and highly conserved role for Zic3 in left-right patterning, gastrulation and convergent extension morphogenesis.
Ware et al., Cincinnati, United States. In Dev Biol, 2012
results demonstrate a functional conservation of Zic3 in left-right patterning and uncover a previously unrecognized role for Zic3 in convergent extension morphogenesis during early vertebrate development
Mutations in ZIC3 and ACVR2B are a common cause of heterotaxy and associated cardiovascular anomalies.
Chung et al., New York City, United States. In Cardiol Young, 2012
Mutations in Zinc Finger Protein of the Cerebellum 3 were identified in 4 of the 47 patients (8.5%) with heterotaxy syndrome. Our results expand the mutation spectrum of monogenic heterotaxy syndrome with associated cardiac anomalies.
Xenopus Zic3 controls notochord and organizer development through suppression of the Wnt/β-catenin signaling pathway.
Aruga et al., Wako, Japan. In Dev Biol, 2012
Zic3 can suppress Wnt/beta-catenin signaling and control development of the notochord and Spemann's organizer.
Identification of a novel ZIC3 isoform and mutation screening in patients with heterotaxy and congenital heart disease.
Ware et al., Cincinnati, United States. In Plos One, 2010
Data show that transcript, termed Zic3-B, encompasses exons 1, 2, and 4 whereas Zic3-A encompasses exons 1, 2, and 3.
Randomized phase II trial of first-line trastuzumab plus docetaxel and capecitabine compared with trastuzumab plus docetaxel in HER2-positive metastatic breast cancer.
Torres et al., Manchester, United Kingdom. In J Clin Oncol, 2010
PATIENTS AND METHODS Patients with HER2-positive locally advanced or metastatic breast cancer were randomly assigned to H (8 mg/kg loading; 6 mg/kg every 3 weeks) plus T (75 mg/m(2) in HTX arm, 100 mg/m(2) in HT arm, every 3 weeks) with or without X (950 mg/m(2) twice per day on days 1 to 14 every 3 weeks).
Loss-of-function mutations in the EGF-CFC gene CFC1 are associated with human left-right laterality defects.
Casey et al., Bethesda, United States. In Nat Genet, 2000
These include ZIC3 (ref.
X-linked situs abnormalities result from mutations in ZIC3.
Casey et al., Houston, United States. In Nat Genet, 1997
Previously we mapped a locus for situs abnormalities in humans, HTX1, to Xq26.2 by linkage analysis in a single family (LR1) and by detection of a deletion in an unrelated situs ambiguus male (Family LR2; refs 2,3).
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