Literature DB >> 9311751

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.   

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Year:  1997        PMID： 9311751      PMCID： PMC1715888          DOI： 10.1086/514850

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


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  20 in total

1.  Syntaxin: a synaptic protein implicated in docking of synaptic vesicles at presynaptic active zones.

Authors:  M K Bennett; N Calakos; R H Scheller
Journal:  Science       Date:  1992-07-10       Impact factor: 47.728

2.  The gene for replication factor C subunit 2 (RFC2) is within the 7q11.23 Williams syndrome deletion.

Authors:  R Peoples; L Perez-Jurado; Y K Wang; P Kaplan; U Francke
Journal:  Am J Hum Genet       Date:  1996-06       Impact factor: 11.025

3.  Hypothesis for development of a behavioral phenotype in Williams syndrome.

Authors:  C V Dilts; C A Morris; C O Leonard
Journal:  Am J Med Genet Suppl       Date:  1990

4.  Mouse model of hyperkinesis implicates SNAP-25 in behavioral regulation.

Authors:  E J Hess; K A Collins; M C Wilson
Journal:  J Neurosci       Date:  1996-05-01       Impact factor: 6.167

5.  A novel human homologue of the Drosophila frizzled wnt receptor gene binds wingless protein and is in the Williams syndrome deletion at 7q11.23.

Authors:  Y K Wang; C H Samos; R Peoples; L A Pérez-Jurado; R Nusse; U Francke
Journal:  Hum Mol Genet       Date:  1997-03       Impact factor: 6.150

6.  Cloning and sequence analysis of a cDNA encoding human syntaxin 1A, a polypeptide essential for exocytosis.

Authors:  R Zhang; A B Maksymowych; L L Simpson
Journal:  Gene       Date:  1995-07-04       Impact factor: 3.688

7.  The Williams syndrome: evidence for possible autosomal dominant inheritance.

Authors:  L S Sadler; L K Robinson; K R Verdaasdonk; R Gingell
Journal:  Am J Med Genet       Date:  1993-09-15

8.  Spontaneous locomotor hyperactivity in a mouse mutant with a deletion including the Snap gene on chromosome 2.

Authors:  E J Hess; H A Jinnah; C A Kozak; M C Wilson
Journal:  J Neurosci       Date:  1992-07       Impact factor: 6.167

9.  Neuropsychological, neurological, and neuroanatomical profile of Williams syndrome.

Authors:  U Bellugi; A Bihrle; T Jernigan; D Trauner; S Doherty
Journal:  Am J Med Genet Suppl       Date:  1990

10.  Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome.

Authors:  A K Ewart; C A Morris; D Atkinson; W Jin; K Sternes; P Spallone; A D Stock; M Leppert; M T Keating
Journal:  Nat Genet       Date:  1993-09       Impact factor: 38.330
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  12 in total

1.  Generation and comparative analysis of approximately 3.3 Mb of mouse genomic sequence orthologous to the region of human chromosome 7q11.23 implicated in Williams syndrome.

Authors:  Udaya DeSilva; Laura Elnitski; Jacquelyn R Idol; Johannah L Doyle; Weiniu Gan; James W Thomas; Scott Schwartz; Nicole L Dietrich; Stephen M Beckstrom-Sternberg; Jennifer C McDowell; Robert W Blakesley; Gerard G Bouffard; Pamela J Thomas; Jeffrey W Touchman; Webb Miller; Eric D Green
Journal:  Genome Res       Date:  2002-01       Impact factor: 9.043

2.  High prevalence of diabetes and pre-diabetes in adults with Williams syndrome.

Authors:  B R Pober; E Wang; S Caprio; K F Petersen; C Brandt; T Stanley; L R Osborne; J Dzuria; B Gulanski
Journal:  Am J Med Genet C Semin Med Genet       Date:  2010-05-15       Impact factor: 3.908

3.  A physical map, including a BAC/PAC clone contig, of the Williams-Beuren syndrome--deletion region at 7q11.23.

Authors:  R Peoples; Y Franke; Y K Wang; L Pérez-Jurado; T Paperna; M Cisco; U Francke
Journal:  Am J Hum Genet       Date:  2000-01       Impact factor: 11.025

4.  Characterization and gene structure of a novel retinoblastoma-protein-associated protein similar to the transcription regulator TFII-I.

Authors:  X Yan; X Zhao; M Qian; N Guo; X Gong; X Zhu
Journal:  Biochem J       Date:  2000-02-01       Impact factor: 3.857

5.  Comparative mapping of the region of human chromosome 7 deleted in williams syndrome.

Authors:  U DeSilva; H Massa; B J Trask; E D Green
Journal:  Genome Res       Date:  1999-05       Impact factor: 9.043

6.  Refinement of the genomic structure of STX1A and mutation analysis in nondeletion Williams syndrome patients.

Authors:  Yuan-Qing Wu; Bassem A Bejjani; Lap-Chee Tsui; Ariane Mandel; Lucy R Osborne; Lisa G Shaffer
Journal:  Am J Med Genet       Date:  2002-04-22

7.  The Caenorhabditis elegans unc-64 locus encodes a syntaxin that interacts genetically with synaptobrevin.

Authors:  O Saifee; L Wei; M L Nonet
Journal:  Mol Biol Cell       Date:  1998-06       Impact factor: 4.138

8.  Williams syndrome: use of chromosomal microdeletions as a tool to dissect cognitive and physical phenotypes.

Authors:  M Tassabehji; K Metcalfe; A Karmiloff-Smith; M J Carette; J Grant; N Dennis; W Reardon; M Splitt; A P Read; D Donnai
Journal:  Am J Hum Genet       Date:  1999-01       Impact factor: 11.025

9.  Imaging analysis reveals mechanistic differences between first- and second-phase insulin exocytosis.

Authors:  Mica Ohara-Imaizumi; Tomonori Fujiwara; Yoko Nakamichi; Tadashi Okamura; Yoshihiro Akimoto; Junko Kawai; Satsuki Matsushima; Hayato Kawakami; Takashi Watanabe; Kimio Akagawa; Shinya Nagamatsu
Journal:  J Cell Biol       Date:  2007-05-14       Impact factor: 10.539

10.  Impaired glucose metabolism in subjects with the Williams-Beuren syndrome: A five-year follow-up cohort study.

Authors:  Maria Elena Lunati; Maria Francesca Bedeschi; Veronica Resi; Valeria Grancini; Eva Palmieri; Simona Salera; Faustina Lalatta; Giuseppe Pugliese; Emanuela Orsi
Journal:  PLoS One       Date:  2017-10-20       Impact factor: 3.240
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