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Pregled bibliografske jedinice broj: 232659

Sequence variants in SLITRK1 are associated with Tourette's syndrome

Abelson, Jesse F.; Kwan, Kenneth Y.; O'Roak, Brian J.; Baek, Danielle Y.; Stillman, Althea A.; Morgan, Thomas M.; Mathews, Carol A.; Pauls, David L.; Rašin, Mladen-Roko; Gunel, Murat et al.
Sequence variants in SLITRK1 are associated with Tourette's syndrome // Science, 310 (2005), 5746; 317-320 doi:10.1126/science.1116502 (međunarodna recenzija, članak, znanstveni)

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Naslov
Sequence variants in SLITRK1 are associated with Tourette's syndrome

Autori
Abelson, Jesse F. ; Kwan, Kenneth Y. ; O'Roak, Brian J. ; Baek, Danielle Y. ; Stillman, Althea A. ; Morgan, Thomas M. ; Mathews, Carol A. ; Pauls, David L. ; Rašin, Mladen-Roko ; Gunel, Murat ; Davis, Nicole R. ; Ercan-Sencicek, A. Gulhan ; Guez, Danielle H. ; Spertus, John A. ; Leckman, James F. ; Dure, Leon S. 4th ; Kurlan, Roger ; Singer, Harvey S. ; Gilbert, Donald L. ; Farhi, Anita ; Louvi, Angeliki ; Lifton, Richard P. ; Šestan, Nenad ; State, Matthew W.

Izvornik
Science (0036-8075) 310 (2005), 5746; 317-320

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, znanstveni

Ključne riječi
Tourette's syndrome ; Slit and Trk-like 1 ; SLITRK1 ; sequence variants

Sažetak
Tourette’s syndrome (TS) is a genetically influenced developmental neuropsychiatric disorder characterized by chronic vocal and motor tics. We studied Slit and Trk-like 1 (SLITRK1) as a candidate gene on chromosome 13q31.1 because of its proximity to a de novo chromosomal inversion in a child with TS. Among 174 unrelated probands, we identified a frameshift mutation and two independent occurrences of the identical variant in the binding site for microRNA hsa-miR-189. These variants were absent from 3600 control chromosomes. SLITRK1 mRNA and hsa-miR-189 showed an overlapping expression pattern in brain regions previously implicated in TS. Wild-type SLITRK1, but not the frameshift mutant, enhanced dendritic growth in primary neuronal cultures. Collectively, these findings support the association of rare SLITRK1 sequence variants with TS.

Izvorni jezik
Engleski

Znanstvena područja
Temeljne medicinske znanosti



POVEZANOST RADA

Projekti:
0108118

Ustanove:
Medicinski fakultet, Zagreb

Poveznice na cjeloviti tekst rada:

doi www.science.org

Citiraj ovu publikaciju:

Abelson, Jesse F.; Kwan, Kenneth Y.; O'Roak, Brian J.; Baek, Danielle Y.; Stillman, Althea A.; Morgan, Thomas M.; Mathews, Carol A.; Pauls, David L.; Rašin, Mladen-Roko; Gunel, Murat et al.
Sequence variants in SLITRK1 are associated with Tourette's syndrome // Science, 310 (2005), 5746; 317-320 doi:10.1126/science.1116502 (međunarodna recenzija, članak, znanstveni)
Abelson, J., Kwan, K., O'Roak, B., Baek, D., Stillman, A., Morgan, T., Mathews, C., Pauls, D., Rašin, M. & Gunel, M. (2005) Sequence variants in SLITRK1 are associated with Tourette's syndrome. Science, 310 (5746), 317-320 doi:10.1126/science.1116502.
@article{article, author = {Abelson, Jesse F. and Kwan, Kenneth Y. and O'Roak, Brian J. and Baek, Danielle Y. and Stillman, Althea A. and Morgan, Thomas M. and Mathews, Carol A. and Pauls, David L. and Ra\v{s}in, Mladen-Roko and Gunel, Murat and Davis, Nicole R. and Ercan-Sencicek, A. Gulhan and Guez, Danielle H. and Spertus, John A. and Leckman, James F. and Dure, Leon S. 4th and Kurlan, Roger and Singer, Harvey S. and Gilbert, Donald L. and Farhi, Anita and Louvi, Angeliki and Lifton, Richard P. and \v{S}estan, Nenad and State, Matthew W.}, year = {2005}, pages = {317-320}, DOI = {10.1126/science.1116502}, keywords = {Tourette's syndrome, Slit and Trk-like 1, SLITRK1, sequence variants}, journal = {Science}, doi = {10.1126/science.1116502}, volume = {310}, number = {5746}, issn = {0036-8075}, title = {Sequence variants in SLITRK1 are associated with Tourette's syndrome}, keyword = {Tourette's syndrome, Slit and Trk-like 1, SLITRK1, sequence variants} }
@article{article, author = {Abelson, Jesse F. and Kwan, Kenneth Y. and O'Roak, Brian J. and Baek, Danielle Y. and Stillman, Althea A. and Morgan, Thomas M. and Mathews, Carol A. and Pauls, David L. and Ra\v{s}in, Mladen-Roko and Gunel, Murat and Davis, Nicole R. and Ercan-Sencicek, A. Gulhan and Guez, Danielle H. and Spertus, John A. and Leckman, James F. and Dure, Leon S. 4th and Kurlan, Roger and Singer, Harvey S. and Gilbert, Donald L. and Farhi, Anita and Louvi, Angeliki and Lifton, Richard P. and \v{S}estan, Nenad and State, Matthew W.}, year = {2005}, pages = {317-320}, DOI = {10.1126/science.1116502}, keywords = {Tourette's syndrome, Slit and Trk-like 1, SLITRK1, sequence variants}, journal = {Science}, doi = {10.1126/science.1116502}, volume = {310}, number = {5746}, issn = {0036-8075}, title = {Sequence variants in SLITRK1 are associated with Tourette's syndrome}, keyword = {Tourette's syndrome, Slit and Trk-like 1, SLITRK1, sequence variants} }

Časopis indeksira:


  • Current Contents Connect (CCC)
  • Web of Science Core Collection (WoSCC)
    • Science Citation Index Expanded (SCI-EXP)
    • SCI-EXP, SSCI i/ili A&HCI
  • Scopus
  • MEDLINE

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