檢索結果 - Ashleigh E. Schaffer

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  1. 1
    Exploring the connection between RNA splicing and intellectual disability

    Exploring the connection between RNA splicing and intellectual disability 由 Anthony Caputo, Ashleigh E. Schaffer

    出版 2025
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  2. 2
    tRNA Metabolism and Neurodevelopmental Disorders

    tRNA Metabolism and Neurodevelopmental Disorders 由 Ashleigh E. Schaffer, Otis Pinkard, Jeff Coller

    出版 2019
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  3. 3
    The transcription factors Nkx6.1 and Nkx6.2 possess equivalent activities in promoting beta-cell fate specification in Pdx1+ pancreatic progenitor cells

    The transcription factors Nkx6.1 and Nkx6.2 possess equivalent activities in promoting beta-cell fate specification in Pdx1+ pancreatic progenitor cells 由 Shelley B. Nelson, Ashleigh E. Schaffer, Maike Sander

    出版 2007
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  4. 4
    Nkx6 Transcription Factors and Ptf1a Function as Antagonistic Lineage Determinants in Multipotent Pancreatic Progenitors

    Nkx6 Transcription Factors and Ptf1a Function as Antagonistic Lineage Determinants in Multipotent Pancreatic Progenitors 由 Ashleigh E. Schaffer, Kristine Freude, Shelley B. Nelson, Maike Sander

    出版 2010
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  5. 5
    Requirements for endoderm and BMP signaling in sensory neurogenesis in zebrafish

    Requirements for endoderm and BMP signaling in sensory neurogenesis in zebrafish 由 Jochen Holzschuh, Naoyuki Wada, Chikako Wada, Ashleigh E. Schaffer, Yashar Javidan, Alexandra Tallafuß, Laure Bally‐Cuif, Thomas F. Schilling

    出版 2005
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  6. 6
    Mitochondrial dysfunction heightens the integrated stress response to drive ALS pathogenesis

    Mitochondrial dysfunction heightens the integrated stress response to drive ALS pathogenesis 由 Curran Landry, James Costanzo, Miguel Mitne‐Neto, Mayana Zatz, Ashleigh E. Schaffer, Maria Hatzoglou, Alysson R. Muotri, Helen C. Miranda

    出版 2024
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  7. 7
    Sox9+ ductal cells are multipotent progenitors throughout development but do not produce new endocrine cells in the normal or injured adult pancreas

    Sox9+ ductal cells are multipotent progenitors throughout development but do not produce new endocrine cells in the normal or injured adult pancreas 由 Janel L. Kopp, Claire L. Dubois, Ashleigh E. Schaffer, Ergeng Hao, Hung-Ping Shih, Philip A. Seymour, Jingyi Ma, Maike Sander

    出版 2011
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  8. 8
    A homozygous <i>IER3IP1</i> mutation causes microcephaly with simplified gyral pattern, epilepsy, and permanent neonatal diabetes syndrome (MEDS)

    A homozygous <i>IER3IP1</i> mutation causes microcephaly with simplified gyral pattern, epilepsy, and permanent neonatal diabetes syndrome (MEDS) 由 Ghada M. H. Abdel‐Salam, Ashleigh E. Schaffer, Maha S. Zaki, Tracy Dixon‐Salazar, Inas S. Mostafa, Hanan H. Afifi, Joseph G. Gleeson

    出版 2012
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  9. 9
    An AKT3-FOXG1-reelin network underlies defective migration in human focal malformations of cortical development

    An AKT3-FOXG1-reelin network underlies defective migration in human focal malformations of cortical development 由 Seung Tae Baek, Brett Copeland, Eun-Jin Yun, Seok‐Kyu Kwon, Alicia Guemez‐Gamboa, Ashleigh E. Schaffer, Sangwoo Kim, Hoon‐Chul Kang, Saera Song, Gary W. Mathern, Joseph G. Gleeson

    出版 2015
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  10. 10
    Nkx6.1 Controls a Gene Regulatory Network Required for Establishing and Maintaining Pancreatic Beta Cell Identity

    Nkx6.1 Controls a Gene Regulatory Network Required for Establishing and Maintaining Pancreatic Beta Cell Identity 由 Ashleigh E. Schaffer, Brandon L. Taylor, Jacqueline R. Benthuysen, Jingxuan Liu, Fabrizio Thorel, Weiping Yuan, Yang Jiao, Klaus H. Kaestner, Pedro L. Herrera, Mark A. Magnuson, Catherine Lee May, Maike Sander

    出版 2013
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  11. 11
    Adaptation to chronic ER stress enforces pancreatic β-cell plasticity

    Adaptation to chronic ER stress enforces pancreatic β-cell plasticity 由 Chien-Wen Chen, Bo‐Jhih Guan, Mohammed R. Alzahrani, Zhaofeng Gao, Long Gao, Syrena Bracey, Jing Wu, Cheikh A. Mbow, Raul Jobava, Leena Haataja, Ajay Zalavadia, Ashleigh E. Schaffer, Hugo Lee, Thomas LaFramboise, Ilya Bederman, Peter Arvan, Clayton E. Mathews, Ivan Gerling, Klaus H. Kaestner, Boaz Tirosh, Feyza Engin, Maria Hatzoglou

    出版 2022
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  12. 12
    Exome Sequencing Can Improve Diagnosis and Alter Patient Management

    Exome Sequencing Can Improve Diagnosis and Alter Patient Management 由 Tracy Dixon‐Salazar, Jennifer L. Silhavy, Nitin Udpa, Jana Schroth, Stephanie Bielas, Ashleigh E. Schaffer, Jesus Olvera, Vineet Bafna, Maha S. Zaki, Ghada M. H. Abdel‐Salam, Lobna Mansour, Laila Selim, Sawsan Abdel-Hadi, Naïma Marzouki, Tawfeg Ben‐Omran, Nouriya A. Al-Saana, F.M. Sonmez, Figen Celep, Matloob Azam, Kiley J. Hill, Adrienne Collazo, Ali G. Fenstermaker, Gaia Novarino, Naiara Akizu, Kiran Garimella, Carrie Sougnez, Carsten Russ, Stacey Gabriel, Joseph G. Gleeson

    出版 2012
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  13. 13
    Plasticity of the mammalian integrated stress response

    Plasticity of the mammalian integrated stress response 由 Chien-Wen Chen, David Papadopoli, Krzysztof J. Szkop, Bo-Jhih Guan, Mohammed R. Alzahrani, Jing Wu, Raul Jobava, Mais M. Asraf, Dawid Krokowski, Anastassios Vourekas, William C. Merrick, Anton A. Komar, Antonis E. Koromilas, Myriam Gorospe, Matthew J. Payea, Fangfang Wang, Benjamin L.L. Clayton, Paul J. Tesar, Ashleigh E. Schaffer, Alexander Miron, Ilya Bederman, Eckhard Jankowsky, Christine Vogel, Leoš Shivaya Valášek, Jonathan D. Dinman, Youwei Zhang, Boaz Tirosh, Ola Larsson, Ivan Topisirović, Maria Hatzoglou

    出版 2025
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  14. 14
    CLP1 Founder Mutation Links tRNA Splicing and Maturation to Cerebellar Development and Neurodegeneration

    CLP1 Founder Mutation Links tRNA Splicing and Maturation to Cerebellar Development and Neurodegeneration 由 Ashleigh E. Schaffer, Veerle Rc Eggens, Ahmet Okay Çağlayan, Miriam S. Reuter, Eric Scott, Nicole G. Coufal, Jennifer L. Silhavy, Yuanchao Xue, Hülya Kayserili, Katsuhito Yasuno, Rasim Özgür Rosti, Mostafa Abdellateef, Caner Çağlar, Paul R. Kasher, J. Leonie Cazemier, Marian A. J. Weterman, Vincent Cantagrel, Na Cai, Christiane Zweier, Umut Altunoğlu, N. Bilge Satkin, Fesih Aktar, Beyhan Tüysüz, Cengiz Yalçınkaya, Hüseyîn Çaksen, Kaya Bilgüvar, Xiang‐Dong Fu, Christopher R. Trotta, Stacey Gabriel, André Reis, Murat Günel, Frank Baas, Joseph G. Gleeson

    出版 2014
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  15. 15
    Mutations in KATNB1 Cause Complex Cerebral Malformations by Disrupting Asymmetrically Dividing Neural Progenitors

    Mutations in KATNB1 Cause Complex Cerebral Malformations by Disrupting Asymmetrically Dividing Neural Progenitors 由 Ketu Mishra-Gorur, Ahmet Okay Çağlayan, Ashleigh E. Schaffer, Chiswili Chabu, Octavian Henegariu, Fernando Vonhoff, Gozde Akgumus, S. Nishimura, Wenqi Han, Shu Tu, Burçin Baran, Hakan Gümüş, Cengiz Dilber, Maha S. Zaki, Heba A.A. Hossni, Jean‐Baptiste Rivière, Hülya Kayserili, Emily Spencer, Rasim Özgür Rosti, Jana Schroth, Hüseyin Per, Caner Çağlar, Çağri Çağlar, Duygu Dölen, Jacob F. Baranoski, Sefer Kumandaş, Frank J. Minja, E. Zeynep Erson‐Omay, Shrikant Mane, Richard P. Lifton, Tian Xu, Haig Keshishian, William B. Dobyns, C. Neil, Nenad Šestan, Angeliki Louvi, Kaya Bilgüvar, Katsuhito Yasuno, Joseph G. Gleeson, Murat Günel

    出版 2014
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  16. 16
    Biallelic loss of human CTNNA2, encoding αN-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration

    Biallelic loss of human CTNNA2, encoding αN-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration 由 Ashleigh E. Schaffer, Martin W. Breuss, Ahmet Okay Çağlayan, Nouriya Al-Sanaa, Hind Y. Al-Abdulwahed, Hande Kaymakçalan, Cahide Yılmaz, Maha S. Zaki, Rasim Özgür Rosti, Brett Copeland, Seung Tae Baek, Damir Musaev, Eric Scott, Tawfeg Ben‐Omran, Ariana Kariminejad, Hülya Kayserili, Faezeh Mojahedi, Majdi Kara, Na Cai, Jennifer L. Silhavy, Seham Elsharif, Elif Fenercioğlu, Bruce A. Barshop, Bülent Kara, Rengang Wang, Valentina Stanley, Kiely N. James, Rahul Nachnani, Aneesha Kalur, Hisham Megahed, Faruk İncecik, Sumita Danda, Yasemin Alanay, Eissa Faqeih, Gia Melikishvili, Lobna Mansour, Ian Miller, Biayna Sukhudyan, Jamel Chelly, William B. Dobyns, Kaya Bilgüvar, Rami Abou Jamra, Murat Günel, Joseph G. Gleeson

    出版 2018
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  17. 17
    Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction

    Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction 由 Naiara Akizu, Vincent Cantagrel, Maha S. Zaki, Lihadh Al‐Gazali, Xin Wang, Rasim Özgür Rosti, Esra Dikoglu, A. Gélot, Başak Rosti, Keith K. Vaux, Eric Scott, Jennifer L. Silhavy, Jana Schroth, Brett Copeland, Ashleigh E. Schaffer, Philip L.S.M. Gordts, Jeffrey D. Esko, Matthew D. Buschman, Seth J. Field, Gennaro Napolitano, Ghada M. H. Abdel‐Salam, Rıza Köksal Özgül, Mahmut Şamil Sağıroğlu, Matloob Azam, Samira Ismail, Mona Aglan, Laila Selim, Iman G. Mahmoud, Sawsan Abdel-Hadi, Amera El Badawy, Abdelrahim A. Sadek, Faezeh Mojahedi, Hülya Kayserili, Amira Masri, Lailá Bastaki, Samia A. Temtamy, Ulrich Müller, Isabelle Desguerre, Jean‐Laurent Casanova, Ali Dursun, Murat Günel, Stacey Gabriel, Pascale de Lonlay, Joseph G. Gleeson

    出版 2015
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  18. 18
    Biallelic mutations in the 3′ exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing

    Biallelic mutations in the 3′ exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing 由 Rea M. Lardelli, Ashleigh E. Schaffer, Veerle Rc Eggens, Maha S. Zaki, Stephanie Grainger, Shashank Sathe, Eric L. Van Nostrand, Zinayida Schlachetzki, Başak Rosti, Naiara Akizu, Eric Scott, Jennifer L. Silhavy, Laura D. Heckman, Rasim Özgür Rosti, Esra Dikoglu, Anne Gregor, Alicia Guemez‐Gamboa, Damir Musaev, Rohit Mande, Ari Widjaja, Timothy Shaw, Sebastian Markmiller, Isaac Marin‐Valencia, Justin H. Davies, Linda De Meırleır, Hülya Kayserili, Umut Altunoğlu, Mary Louise Freckmann, Linda Warwick, David Chitayat, Susan Blasér, Ahmet Okay Çağlayan, Kaya Bilgüvar, Hüseyin Per, Christina Fagerberg, Henrik Thybo Christesen, Maria Kibæk, Kimberly A. Aldinger, David K. Manchester, Naomichi Matsumoto, Kazuhiro Muramatsu, Hirotomo Saitsu, Masaaki Shiina, Kazuhiro Ogata, Nicola Foulds, William B. Dobyns, C. Neil, David Traver, Luigina Spaccini, Stefania Maria Bova, Stacey B. Gabriel, Murat Günel, Enza Maria Valente, Marie‐Cécile Nassogne, Eric J. Bennett, G Yeo, Frank Baas, Jens Lykke‐Andersen, Joseph G. Gleeson

    出版 2017
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