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. 1997 Aug;61(2):449–452. doi: 10.1086/514850

Hemizygous deletion of the syntaxin 1A gene in individuals with Williams syndrome.

L R Osborne, S Soder, X M Shi, B Pober, T Costa, S W Scherer, L C Tsui
PMCID: PMC1715888  PMID: 9311751

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Bellugi U., Bihrle A., Jernigan T., Trauner D., Doherty S. Neuropsychological, neurological, and neuroanatomical profile of Williams syndrome. Am J Med Genet Suppl. 1990;6:115–125. doi: 10.1002/ajmg.1320370621. [DOI] [PubMed] [Google Scholar]
  2. Bennett M. K., Calakos N., Scheller R. H. Syntaxin: a synaptic protein implicated in docking of synaptic vesicles at presynaptic active zones. Science. 1992 Jul 10;257(5067):255–259. doi: 10.1126/science.1321498. [DOI] [PubMed] [Google Scholar]
  3. Dilts C. V., Morris C. A., Leonard C. O. Hypothesis for development of a behavioral phenotype in Williams syndrome. Am J Med Genet Suppl. 1990;6:126–131. doi: 10.1002/ajmg.1320370622. [DOI] [PubMed] [Google Scholar]
  4. Ewart A. K., Morris C. A., Atkinson D., Jin W., Sternes K., Spallone P., Stock A. D., Leppert M., Keating M. T. Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome. Nat Genet. 1993 Sep;5(1):11–16. doi: 10.1038/ng0993-11. [DOI] [PubMed] [Google Scholar]
  5. Frangiskakis J. M., Ewart A. K., Morris C. A., Mervis C. B., Bertrand J., Robinson B. F., Klein B. P., Ensing G. J., Everett L. A., Green E. D. LIM-kinase1 hemizygosity implicated in impaired visuospatial constructive cognition. Cell. 1996 Jul 12;86(1):59–69. doi: 10.1016/s0092-8674(00)80077-x. [DOI] [PubMed] [Google Scholar]
  6. Gilbert-Dussardier B., Bonneau D., Gigarel N., Le Merrer M., Bonnet D., Philip N., Serville F., Verloes A., Rossi A., Aymé S. A novel microsatellite DNA marker at locus D7S1870 detects hemizygosity in 75% of patients with Williams syndrome. Am J Hum Genet. 1995 Feb;56(2):542–544. [PMC free article] [PubMed] [Google Scholar]
  7. Hess E. J., Collins K. A., Wilson M. C. Mouse model of hyperkinesis implicates SNAP-25 in behavioral regulation. J Neurosci. 1996 May 1;16(9):3104–3111. doi: 10.1523/JNEUROSCI.16-09-03104.1996. [DOI] [PMC free article] [PubMed] [Google Scholar]
  8. Hess E. J., Jinnah H. A., Kozak C. A., Wilson M. C. Spontaneous locomotor hyperactivity in a mouse mutant with a deletion including the Snap gene on chromosome 2. J Neurosci. 1992 Jul;12(7):2865–2874. doi: 10.1523/JNEUROSCI.12-07-02865.1992. [DOI] [PMC free article] [PubMed] [Google Scholar]
  9. Jagadish M. N., Tellam J. T., Macaulay S. L., Gough K. H., James D. E., Ward C. W. Novel isoform of syntaxin 1 is expressed in mammalian cells. Biochem J. 1997 Jan 1;321(Pt 1):151–156. doi: 10.1042/bj3210151. [DOI] [PMC free article] [PubMed] [Google Scholar]
  10. Morris C. A., Thomas I. T., Greenberg F. Williams syndrome: autosomal dominant inheritance. Am J Med Genet. 1993 Sep 15;47(4):478–481. doi: 10.1002/ajmg.1320470409. [DOI] [PubMed] [Google Scholar]
  11. Nickerson E., Greenberg F., Keating M. T., McCaskill C., Shaffer L. G. Deletions of the elastin gene at 7q11.23 occur in approximately 90% of patients with Williams syndrome. Am J Hum Genet. 1995 May;56(5):1156–1161. [PMC free article] [PubMed] [Google Scholar]
  12. Osborne L. R., Martindale D., Scherer S. W., Shi X. M., Huizenga J., Heng H. H., Costa T., Pober B., Lew L., Brinkman J. Identification of genes from a 500-kb region at 7q11.23 that is commonly deleted in Williams syndrome patients. Genomics. 1996 Sep 1;36(2):328–336. doi: 10.1006/geno.1996.0469. [DOI] [PubMed] [Google Scholar]
  13. Peoples R., Perez-Jurado L., Wang Y. K., Kaplan P., Francke U. The gene for replication factor C subunit 2 (RFC2) is within the 7q11.23 Williams syndrome deletion. Am J Hum Genet. 1996 Jun;58(6):1370–1373. [PMC free article] [PubMed] [Google Scholar]
  14. Rettig J., Sheng Z. H., Kim D. K., Hodson C. D., Snutch T. P., Catterall W. A. Isoform-specific interaction of the alpha1A subunits of brain Ca2+ channels with the presynaptic proteins syntaxin and SNAP-25. Proc Natl Acad Sci U S A. 1996 Jul 9;93(14):7363–7368. doi: 10.1073/pnas.93.14.7363. [DOI] [PMC free article] [PubMed] [Google Scholar]
  15. Sadler L. S., Robinson L. K., Verdaasdonk K. R., Gingell R. The Williams syndrome: evidence for possible autosomal dominant inheritance. Am J Med Genet. 1993 Sep 15;47(4):468–470. doi: 10.1002/ajmg.1320470406. [DOI] [PubMed] [Google Scholar]
  16. Schulze K. L., Broadie K., Perin M. S., Bellen H. J. Genetic and electrophysiological studies of Drosophila syntaxin-1A demonstrate its role in nonneuronal secretion and neurotransmission. Cell. 1995 Jan 27;80(2):311–320. doi: 10.1016/0092-8674(95)90414-x. [DOI] [PubMed] [Google Scholar]
  17. Sheng Z. H., Rettig J., Cook T., Catterall W. A. Calcium-dependent interaction of N-type calcium channels with the synaptic core complex. Nature. 1996 Feb 1;379(6564):451–454. doi: 10.1038/379451a0. [DOI] [PubMed] [Google Scholar]
  18. Tassabehji M., Metcalfe K., Fergusson W. D., Carette M. J., Dore J. K., Donnai D., Read A. P., Pröschel C., Gutowski N. J., Mao X. LIM-kinase deleted in Williams syndrome. Nat Genet. 1996 Jul;13(3):272–273. doi: 10.1038/ng0796-272. [DOI] [PubMed] [Google Scholar]
  19. Wang Y. K., Samos C. H., Peoples R., Pérez-Jurado L. A., Nusse R., Francke U. A novel human homologue of the Drosophila frizzled wnt receptor gene binds wingless protein and is in the Williams syndrome deletion at 7q11.23. Hum Mol Genet. 1997 Mar;6(3):465–472. doi: 10.1093/hmg/6.3.465. [DOI] [PubMed] [Google Scholar]
  20. Zhang R., Maksymowych A. B., Simpson L. L. Cloning and sequence analysis of a cDNA encoding human syntaxin 1A, a polypeptide essential for exocytosis. Gene. 1995 Jul 4;159(2):293–294. doi: 10.1016/0378-1119(95)00152-v. [DOI] [PubMed] [Google Scholar]

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