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A 24-generation-old founder mutation impairs splicing of RBBP8 in Pakistani families affected with Jawad syndrome.

Clinical genetics

Kaygusuz E, Khayyat AIA, Abdullah U, Budde BS, Asif M, Ahmed I, Makhdoom EUH, Sur-Erdem I, Baig JM, Khan MMA, Toliat MR, Becker C, Anwar H, Iqbal M, Fischer S, Jameel M, Sher M, Tariq M, Malik NA, Noegel AA, Hassan MJ, Thiele H, Tinschert S, Eichinger L, Höning S, Baig SM, Nürnberg P, Hussain MS.
PMID: 34270086
Clin Genet. 2021 Oct;100(4):486-488. doi: 10.1111/cge.14028. Epub 2021 Jul 16.

Jawad syndrome is a multiple congenital anomaly and intellectual disability syndrome with mutation in RBBP8 reported only in two families. Here, we report on two new families from Pakistan and identified a previously reported variant in RBBP8, NM_002894.3:c.1808-1809delTA. We...

Cite
Kaygusuz E, Khayyat AIA, Abdullah U, et al. A 24-generation-old founder mutation impairs splicing of RBBP8 in Pakistani families affected with Jawad syndrome. Clin Genet. 2021;100(4):486-488doi: 10.1111/cge.14028.
Kaygusuz, E., Khayyat, A. I. A., Abdullah, U., Budde, B. S., Asif, M., Ahmed, I., Makhdoom, E. U. H., Sur-Erdem, I., Baig, J. M., Khan, M. M. A., Toliat, M. R., Becker, C., Anwar, H., Iqbal, M., Fischer, S., Jameel, M., Sher, M., Tariq, M., Malik, N. A., Noegel, A. A., Hassan, M. J., Thiele, H., Tinschert, S., Eichinger, L., Höning, S., Baig, S. M., Nürnberg, P., & Hussain, M. S. (2021). A 24-generation-old founder mutation impairs splicing of RBBP8 in Pakistani families affected with Jawad syndrome. Clinical genetics, 100(4), 486-488. https://doi.org/10.1111/cge.14028
Kaygusuz, Emrah, et al. "A 24-generation-old founder mutation impairs splicing of RBBP8 in Pakistani families affected with Jawad syndrome." Clinical genetics vol. 100,4 (2021): 486-488. doi: https://doi.org/10.1111/cge.14028
Kaygusuz E, Khayyat AIA, Abdullah U, Budde BS, Asif M, Ahmed I, Makhdoom EUH, Sur-Erdem I, Baig JM, Khan MMA, Toliat MR, Becker C, Anwar H, Iqbal M, Fischer S, Jameel M, Sher M, Tariq M, Malik NA, Noegel AA, Hassan MJ, Thiele H, Tinschert S, Eichinger L, Höning S, Baig SM, Nürnberg P, Hussain MS. A 24-generation-old founder mutation impairs splicing of RBBP8 in Pakistani families affected with Jawad syndrome. Clin Genet. 2021 Oct;100(4):486-488. doi: 10.1111/cge.14028. Epub 2021 Jul 16. PMID: 34270086.
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Comparing astrocytic gap junction of genetic absence epileptic rats with control rats: an experimental study.

Brain structure & function

Çavdar S, Köse B, Sur-Erdem İ, Özkan M.
PMID: 34097147
Brain Struct Funct. 2021 Sep;226(7):2113-2123. doi: 10.1007/s00429-021-02310-y. Epub 2021 Jun 07.

The synchronization of astrocytes via gap junctions (GJ) is a crucial mechanism in epileptic conditions, contributing to the synchronization of the neuronal networks. Little is known about the endogenous response of GJ in genetic absence epileptic animal models. We...

Cite
Çavdar S, Köse B, Sur-Erdem İ, et al. Comparing astrocytic gap junction of genetic absence epileptic rats with control rats: an experimental study. Brain Struct Funct. 2021;226(7):2113-2123doi: 10.1007/s00429-021-02310-y.
Çavdar, S., Köse, B., Sur-Erdem, �. �., & Özkan, M. (2021). Comparing astrocytic gap junction of genetic absence epileptic rats with control rats: an experimental study. Brain structure & function, 226(7), 2113-2123. https://doi.org/10.1007/s00429-021-02310-y
Çavdar, Safiye, et al. "Comparing astrocytic gap junction of genetic absence epileptic rats with control rats: an experimental study." Brain structure & function vol. 226,7 (2021): 2113-2123. doi: https://doi.org/10.1007/s00429-021-02310-y
Çavdar S, Köse B, Sur-Erdem İ, Özkan M. Comparing astrocytic gap junction of genetic absence epileptic rats with control rats: an experimental study. Brain Struct Funct. 2021 Sep;226(7):2113-2123. doi: 10.1007/s00429-021-02310-y. Epub 2021 Jun 07. PMID: 34097147.
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Correction to: Comparing astrocytic gap junction of genetic absence epileptic rats with control rats: an experimental study.

Brain structure & function

Çavdar S, Köse B, Sur-Erdem İ, Özkan M.
PMID: 35015139
Brain Struct Funct. 2022 Jan 11; doi: 10.1007/s00429-022-02452-7. Epub 2022 Jan 11.

No abstract available.

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Çavdar S, Köse B, Sur-Erdem İ, et al. Correction to: Comparing astrocytic gap junction of genetic absence epileptic rats with control rats: an experimental study. Brain Struct Funct. 2022;doi: 10.1007/s00429-022-02452-7.
Çavdar, S., Köse, B., Sur-Erdem, �. �., & Özkan, M. (2022). Correction to: Comparing astrocytic gap junction of genetic absence epileptic rats with control rats: an experimental study. Brain structure & function, . https://doi.org/10.1007/s00429-022-02452-7
Çavdar, Safiye, et al. "Correction to: Comparing astrocytic gap junction of genetic absence epileptic rats with control rats: an experimental study." Brain structure & function vol. (2022). doi: https://doi.org/10.1007/s00429-022-02452-7
Çavdar S, Köse B, Sur-Erdem İ, Özkan M. Correction to: Comparing astrocytic gap junction of genetic absence epileptic rats with control rats: an experimental study. Brain Struct Funct. 2022 Jan 11; doi: 10.1007/s00429-022-02452-7. Epub 2022 Jan 11. PMID: 35015139.
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A 24-generation-old founder mutation impairs splicing of RBBP8 in Pakistani families affected with Jawad syndrome.

Clinical genetics

Kaygusuz E, Khayyat AIA, Abdullah U, Budde BS, Asif M, Ahmed I, Makhdoom EUH, Sur-Erdem I, Baig JM, Khan MMA, Toliat MR, Becker C, Anwar H, Iqbal M, Fischer S, Jameel M, Sher M, Tariq M, Malik NA, Noegel AA, Hassan MJ, Thiele H, Tinschert S, Eichinger L, Höning S, Baig SM, Nürnberg P, Hussain MS.
PMID: 34270086
Clin Genet. 2021 Oct;100(4):486-488. doi: 10.1111/cge.14028. Epub 2021 Jul 16.

Jawad syndrome is a multiple congenital anomaly and intellectual disability syndrome with mutation in RBBP8 reported only in two families. Here, we report on two new families from Pakistan and identified a previously reported variant in RBBP8, NM_002894.3:c.1808-1809delTA. We...

Cite
Kaygusuz E, Khayyat AIA, Abdullah U, et al. A 24-generation-old founder mutation impairs splicing of RBBP8 in Pakistani families affected with Jawad syndrome. Clin Genet. 2021;100(4):486-488doi: 10.1111/cge.14028.
Kaygusuz, E., Khayyat, A. I. A., Abdullah, U., Budde, B. S., Asif, M., Ahmed, I., Makhdoom, E. U. H., Sur-Erdem, I., Baig, J. M., Khan, M. M. A., Toliat, M. R., Becker, C., Anwar, H., Iqbal, M., Fischer, S., Jameel, M., Sher, M., Tariq, M., Malik, N. A., Noegel, A. A., Hassan, M. J., Thiele, H., Tinschert, S., Eichinger, L., Höning, S., Baig, S. M., Nürnberg, P., & Hussain, M. S. (2021). A 24-generation-old founder mutation impairs splicing of RBBP8 in Pakistani families affected with Jawad syndrome. Clinical genetics, 100(4), 486-488. https://doi.org/10.1111/cge.14028
Kaygusuz, Emrah, et al. "A 24-generation-old founder mutation impairs splicing of RBBP8 in Pakistani families affected with Jawad syndrome." Clinical genetics vol. 100,4 (2021): 486-488. doi: https://doi.org/10.1111/cge.14028
Kaygusuz E, Khayyat AIA, Abdullah U, Budde BS, Asif M, Ahmed I, Makhdoom EUH, Sur-Erdem I, Baig JM, Khan MMA, Toliat MR, Becker C, Anwar H, Iqbal M, Fischer S, Jameel M, Sher M, Tariq M, Malik NA, Noegel AA, Hassan MJ, Thiele H, Tinschert S, Eichinger L, Höning S, Baig SM, Nürnberg P, Hussain MS. A 24-generation-old founder mutation impairs splicing of RBBP8 in Pakistani families affected with Jawad syndrome. Clin Genet. 2021 Oct;100(4):486-488. doi: 10.1111/cge.14028. Epub 2021 Jul 16. PMID: 34270086.
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The pro-apoptotic Bcl-2 family member Harakiri (HRK) induces cell death in glioblastoma multiforme.

Cell death discovery

Kaya-Aksoy E, Cingoz A, Senbabaoglu F, Seker F, Sur-Erdem I, Kayabolen A, Lokumcu T, Sahin GN, Karahuseyinoglu S, Bagci-Onder T.
PMID: 30774992
Cell Death Discov. 2019 Feb 08;5:64. doi: 10.1038/s41420-019-0144-z. eCollection 2019.

Harakiri (HRK) is a BH3-only protein of the Bcl-2 family and regulates apoptosis by interfering with anti-apoptotic Bcl-2 and Bcl-xL proteins. While its function is mainly characterized in the nervous system, its role in tumors is ill-defined with few...

Cite
Kaya-Aksoy E, Cingoz A, Senbabaoglu F, et al. The pro-apoptotic Bcl-2 family member Harakiri (HRK) induces cell death in glioblastoma multiforme. Cell Death Discov. 2019;5:64doi: 10.1038/s41420-019-0144-z.
Kaya-Aksoy, E., Cingoz, A., Senbabaoglu, F., Seker, F., Sur-Erdem, I., Kayabolen, A., Lokumcu, T., Sahin, G. N., Karahuseyinoglu, S., & Bagci-Onder, T. (2019). The pro-apoptotic Bcl-2 family member Harakiri (HRK) induces cell death in glioblastoma multiforme. Cell death discovery, 564. https://doi.org/10.1038/s41420-019-0144-z
Kaya-Aksoy, Ezgi, et al. "The pro-apoptotic Bcl-2 family member Harakiri (HRK) induces cell death in glioblastoma multiforme." Cell death discovery vol. 5 (2019): 64. doi: https://doi.org/10.1038/s41420-019-0144-z
Kaya-Aksoy E, Cingoz A, Senbabaoglu F, Seker F, Sur-Erdem I, Kayabolen A, Lokumcu T, Sahin GN, Karahuseyinoglu S, Bagci-Onder T. The pro-apoptotic Bcl-2 family member Harakiri (HRK) induces cell death in glioblastoma multiforme. Cell Death Discov. 2019 Feb 08;5:64. doi: 10.1038/s41420-019-0144-z. eCollection 2019. PMID: 30774992; PMCID: PMC6368544.
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Comparing astrocytic gap junction of genetic absence epileptic rats with control rats: an experimental study.

Brain structure & function

Çavdar S, Köse B, Sur-Erdem İ, Özkan M.
PMID: 34097147
Brain Struct Funct. 2021 Sep;226(7):2113-2123. doi: 10.1007/s00429-021-02310-y. Epub 2021 Jun 07.

The synchronization of astrocytes via gap junctions (GJ) is a crucial mechanism in epileptic conditions, contributing to the synchronization of the neuronal networks. Little is known about the endogenous response of GJ in genetic absence epileptic animal models. We...

Cite
Çavdar S, Köse B, Sur-Erdem İ, et al. Comparing astrocytic gap junction of genetic absence epileptic rats with control rats: an experimental study. Brain Struct Funct. 2021;226(7):2113-2123doi: 10.1007/s00429-021-02310-y.
Çavdar, S., Köse, B., Sur-Erdem, �. �., & Özkan, M. (2021). Comparing astrocytic gap junction of genetic absence epileptic rats with control rats: an experimental study. Brain structure & function, 226(7), 2113-2123. https://doi.org/10.1007/s00429-021-02310-y
Çavdar, Safiye, et al. "Comparing astrocytic gap junction of genetic absence epileptic rats with control rats: an experimental study." Brain structure & function vol. 226,7 (2021): 2113-2123. doi: https://doi.org/10.1007/s00429-021-02310-y
Çavdar S, Köse B, Sur-Erdem İ, Özkan M. Comparing astrocytic gap junction of genetic absence epileptic rats with control rats: an experimental study. Brain Struct Funct. 2021 Sep;226(7):2113-2123. doi: 10.1007/s00429-021-02310-y. Epub 2021 Jun 07. PMID: 34097147.
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Identification of .

Cancers

Seker F, Cingoz A, Sur-Erdem İ, Erguder N, Erkent A, Uyulur F, Esai Selvan M, Gümüş ZH, Gönen M, Bayraktar H, Wakimoto H, Bagci-Onder T.
PMID: 31731490
Cancers (Basel). 2019 Oct 25;11(11). doi: 10.3390/cancers11111651.

High mortality rates of glioblastoma (GBM) patients are partly attributed to the invasive behavior of tumor cells that exhibit extensive infiltration into adjacent brain tissue, leading to rapid, inevitable, and therapy-resistant recurrence. In this study, we analyzed transcriptome of...

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Seker F, Cingoz A, Sur-Erdem İ, et al. Identification of . Cancers (Basel). 2019;11(11)doi: 10.3390/cancers11111651.
Seker, F., Cingoz, A., Sur-Erdem, �. �., Erguder, N., Erkent, A., Uyulur, F., Esai Selvan, M., Gümüş, Z. H., Gönen, M., Bayraktar, H., Wakimoto, H., & Bagci-Onder, T. (2019). Identification of . Cancers, 11(11), . https://doi.org/10.3390/cancers11111651
Seker, Fidan, et al. "Identification of ." Cancers vol. 11,11 (2019). doi: https://doi.org/10.3390/cancers11111651
Seker F, Cingoz A, Sur-Erdem İ, Erguder N, Erkent A, Uyulur F, Esai Selvan M, Gümüş ZH, Gönen M, Bayraktar H, Wakimoto H, Bagci-Onder T. Identification of . Cancers (Basel). 2019 Oct 25;11(11). doi: 10.3390/cancers11111651. PMID: 31731490; PMCID: PMC6896086.
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Showing 1 to 7 of 7 entries