Characterization of two novel genes, WBSCR20 and WBSCR22, deleted in Williams-Beuren syndrome

Cytogenetics and Cell Genetics

Volumn 95, Issue 1-2, 2001, Pages 20-27

  Doll, Andreas ^a   Grzeschik, K H ^a  

^a PHILIPPS UNIVERSITY MARBURG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ANTIGEN; PROTEIN; PROTEIN P120; PROTEIN WBSCR20; PROTEIN WBSCR22; UNCLASSIFIED DRUG;

ADULT; AMINO ACID SEQUENCE; ARTICLE; CELL PROLIFERATION; CONTROLLED STUDY; DNA FLANKING REGION; GENE DELETION; GENE IDENTIFICATION; GENE MAPPING; GENETIC CODE; GENETIC CONSERVATION; HEART; HEMIZYGOSITY; HUMAN; KIDNEY; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN FAMILY; SEQUENCE HOMOLOGY; SKELETAL MUSCLE; TELOMERE; WILLIAMS BEUREN SYNDROME;

EID: 0035736207     PISSN: 03010171     EISSN: None     Source Type: Journal    
DOI: 10.1159/000057012     Document Type: Article

References (36)

1. Basic local alignment search tool
2. Neuropsychological, neurological and neuroanatomical profile of Williams syndrome
3. Possible assignment of the glyoxalase I (GLO) gene to chromosome 6 using man-mouse somatic cell hybrids
4. Yeast NOP2 encodes an essential nucleolar protein with homology to a human proliferation marker
5. A physical map of human chromosome 7: An integrated YAC contig map with average STS spacing of 79 kb
6. Apoptosis in human tumor cells following treatment with p120 antisense oligodeoxynucleotide ISIS 3466
7. DNA modification by methyltransferases
8. A comprehensive genetic map of the human genome based on 5264 microsatellites
9. Unequal interchromosomal rearrangements may result in elastin gene deletions causing the Williams-Beuren syndrome
10. Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome
11. Identification of GTF2IRD1 a putative transcription factor within the Williams-Beuren syndrome deletion at 7q11.23
12. 1 phase
13. An integral membrane protein of the pore membrane domain of the nuclear envelope contains a nucleoporin-like region
14. A complete physical contig and partial transcript map of the Williams syndrome critical region
15. Point mutations define a sequence flanking the AUG initiator codon that modulates translation by eukaryotic ribosomes
16. A C-methyltransferase involved in both ubiquinone and menaquinone biosynthesis: Isolation and identification of the Escherichia coli ubiE gene
17. Williams syndrome and the brain
18. WBSCR14, a putative transcription factor gene deleted in Williams-Beuren syndrome: Complete characterisation of the human gene and the mouse ortholog
19. Complete physical map of the common deletion region in Williams syndrome and identification and characterization of three novel genes
20. Clinical characterization, molecular and FISH studies in 80 patients with clinical suspicion of Williams-Beuren syndrome
21. Natural history of Williams syndrome: Physical characteristics
22. Deletions of the elastin gene at 7q11.23 occur in approximately 90% of patients with Williams syndrome
23. Williams-Beuren syndrome: Unraveling the mysteries of a microdeletion disorder
24. Genes for the CPE receptor (CPETR1) and the human homolog of RVP1 (CPETR2) are localized within the Williams-Beuren syndrome deletion
25. A physical map including a BAC/PAC clone contig of the Williams-Beuren syndrome-deletion region at 7q11.23
26. Molecular definition of the chromosome 7 deletion in Williams syndrome and parent-of-origin effects on growth
27. A duplicated gene in the breakpoint regions of the 7q11.23 Williams-Beuren syndrome deletion encodes the initiator binding protein TFII-I and BAP-135, a phosphorylation target of BTK
28. TBL2, a novel transducin family member in the WBS deletion: Characterization of the complete sequence, genomic structure, transcriptional variants and the mouse ortholog
29. Overexpression of human nucleolar proteins in insect cells: Characterization of nucleolar protein p120
30. Universal catalytic domain structure of AdoMet-dependent methyltransferases
31. A transcription factor involved in skeletal muscle gene expression is deleted in patients with Williams syndrome
32. Williams syndrome: Use of chromosomal microdeletions as a tool to dissect cognitive and physical phenotypes
33. 7q11.23 deletions in Williams syndrome arise as a consequence of unequal meiotic crossover
34. Fine-scale comparative mapping of the human 7q11.23 region and the orthologous region on mouse chromosome 5G: The low-copy repeats that flank the Williams-Beuren syndrome deletion arose at breakpoint sites of an evolutionary inversion(s)
35. GLI3 zinc-finger gene interrupted by translocations in Greig syndrome families
36. A novel human homologue of the Drosophila frizzled wnt receptor gene binds wingless protein and is in the Williams syndrome deletion at 7q11.23