Expression and mutation analysis of BRUNOL3, a candidate gene for heart and thymus developmental defects associated with partial monosomy 10p

Journal of Molecular Medicine

Volumn 80, Issue 7, 2002, Pages 431-442

  Lichtner, P ^a,b   Attie Bitach T ^a,b   Schuffenhauer, S ^a,b   Henwood, J ^d   Bouvagnet, P ^e   Scambler, P ^f   Meitinger, T ^a   Vekemans, M ^c  

^a INSTITUTE OF EPIDEMIOLOGY   (Germany)

^b TECHNICAL UNIVERSITY OF MUNICH   (Germany)

^c HÔPITAL NECKER ENFANTS MALADES   (France)

^d UNIVERSITY OF LEEDS   (United Kingdom)

^e UNIVERSITÉ LYON 1   (France)

^f UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

BRUNOL3; DiGeorge syndrome; HDR syndrome; In situ hybridization; Partial monosomy 10p

Indexed keywords

ARTICLE; BRUNOL3 GENE; CHROMOSOME 10P; CHROMOSOME DELETION; CHROMOSOME MAP; CONGENITAL HEART MALFORMATION; CONTROLLED STUDY; DEVELOPMENTAL STAGE; DIGEORGE SYNDROME; EMBRYO; FETUS; GENE; GENE CONSTRUCT; GENE EXPRESSION; GENE IDENTIFICATION; GENE LOCUS; GENE SEQUENCE; GENETIC ASSOCIATION; HUMAN; HUMAN TISSUE; IN SITU HYBRIDIZATION; MAJOR CLINICAL STUDY; MUTATIONAL ANALYSIS; MUTATOR GENE; NUCLEOTIDE SEQUENCE; PARTIAL MONOSOMY; RESTRICTION MAPPING; THYMUS APLASIA; TISSUE DISTRIBUTION; ADULT; CHILD; CHROMOSOME 10; CONGENITAL MALFORMATION; FETUS HEART; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DELETION; GENE EXPRESSION REGULATION; GENETICS; GESTATIONAL AGE; GROWTH, DEVELOPMENT AND AGING; METABOLISM; MUTATION; PHENOTYPE; PRENATAL DEVELOPMENT; THYMUS;

ADULT; CHILD; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 10; DIGEORGE SYNDROME; FETAL HEART; GENE DELETION; GENE EXPRESSION REGULATION, DEVELOPMENTAL; GESTATIONAL AGE; HEART DEFECTS, CONGENITAL; HUMAN; IN SITU HYBRIDIZATION, FLUORESCENCE; MEMBRANE PROTEINS; MUTATION; PHENOTYPE; PROTEIN ISOFORMS; RNA-BINDING PROTEINS; SUPPORT, NON-U.S. GOV'T; THYMUS GLAND; HUMANS; NERVE TISSUE PROTEINS;

ADHESION RECEPTOR; CUGBP2 PROTEIN, HUMAN; ISOPROTEIN; MEMBRANE PROTEIN; NERVE PROTEIN; RNA BINDING PROTEIN;

EID: 0036019517     PISSN: 09462716     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00109-002-0331-9     Document Type: Article

References (32)

1. The DiGeorge anomaly as a developmental field defect
2. Molecular genetic study of the frequency of monosomy 22q11 in DiGeorge syndrome
3. Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: Implications for genetic counselling and prenatal diagnosis
4. A common region of 10p deleted in DiGeorge and velocardiofacial syndromes
5. Deletion mapping on chromosome 10p and definition of a critical region for the second DiGeorge syndrome locus (DGS2)
6. Characterization of 10p deletions suggests two nonoverlapping regions contribute to the DiGeorge syndrome phenotype
7. An HDR (hypoparathyroidism, deafness, renal dysplasia) syndrome locus maps distal to the DiGeorge syndrome region on 10p13/14
8. GATA3 haplo-insufficiency causes human HDR syndrome
9. Delineation of individual human chromosomes in metaphase and interphase cells by in situ suppression hybridization using recombinant DNA libraries
10. High-resolution mapping of human chromosome 11 by in situ hybridization with cosmid clones
11. Velo-cardio-facial and partial DiGeorge phenotype in a child with interstitial deletion at 10p13-implications for cytogenetics and molecular biology
12. HDR syndrome (hypoparathyroidism, sensorineural deafness, renal dysplasia) associated with del(10)(p13)
13. Developmentally-regulated expression of mNapor encoding an apoptosis-induced ELAV-type RNA binding protein
14. Cardiac elav-type RNA-binding protein (ETR-3) binds to RNA CUG repeats expanded in myotonic dystrophy
15. Recommendations for a nomenclature system for human gene mutations. Nomenclature working group
16. Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion
17. The phenotypic spectrum of the 10p deletion syndrome versus the classical DiGeorge syndrome
18. A family of human RNA-binding proteins related to the Drosophila Bruno translational regulator
19. Induction of germ cell formation by oskar
20. Translational regulation of oskar mRNA by bruno, an ovarian RNA-binding protein, is essential
21. Gene elav of Drosophila melanogaster: A prototype for neuronal-specific RNA binding protein gene family that is conserved in flies and humans
22. The mec-8 gene of C. elegans encodes a protein with two RNA recognition motifs and regulates alternative splicing of unc-52 transcripts
23. The quaking gene product necessary in embryogenesis and myelination combines features of RNA binding and signal transduction proteins
24. FCA, a gene controlling flowering time in Arabidopsis, encodes a protein containing RNA-binding domains
25. Fluorescent differential display analysis of gene expression in apoptotic neuroblastoma cells
26. The CELF family of RNA binding proteins is implicated in cell-specific and developmentally regulated alternative splicing
27. The DiGeorge syndrome and the fetal alcohol syndrome
28. DiGeorge anomaly with renal agenesis in infants of mothers with diabetes
29. DiGeorge syndrome phenotype in mice mutant for the T-box gene, Tbx1
30. Tbx1 haploinsufficieny in the DiGeorge syndrome region causes aortic arch defects in mice
31. TBX1 is responsible for cardiovascular defects in velo-cardio-facial/DiGeorge syndrome