Search Results - Zhiyv Niu

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  1. 1
    Novel <i>NR2F1</i> variants likely disrupt DNA binding: molecular modeling in two cases, review of published cases, genotype–phenotype correlation, and phenotypic expansion of the Bosch–Boonstra–Schaaf optic atrophy syndrome

    Novel <i>NR2F1</i> variants likely disrupt DNA binding: molecular modeling in two cases, review of published cases, genotype–phenotype correlation, and phenotypic expansion of the... by Charu Kaiwar, Michael T. Zimmermann, Matthew J. Ferber, Zhiyv Niu, Raúl Urrutia, Eric W. Klee, Dusica Babovic‐Vuksanovic

    Published 2017
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  2. 2
    MicroRNA-21 regulates the self-renewal of mouse spermatogonial stem cells

    MicroRNA-21 regulates the self-renewal of mouse spermatogonial stem cells by Zhiyv Niu, Shaun M. Goodyear, Shilpa Rao, Xin Wu, John W. Tobias, Mary R. Avarbock, Ralph L. Brinster

    Published 2011
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  3. 3
    Identification and validation of diagnostic biomarkers for temporal lobe epilepsy related to ferroptosis and potential therapeutic targets

    Identification and validation of diagnostic biomarkers for temporal lobe epilepsy related to ferroptosis and potential therapeutic targets by Shifeng Dai, Jingxuan Li, Zhiyv Niu, Likun Wang, Siying Ren, Wen Gu, Hui Yang, Hong Xue, Guofeng Wu

    Published 2025
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  4. 4
    <i>Sox17</i> is essential for the specification of cardiac mesoderm in embryonic stem cells

    <i>Sox17</i> is essential for the specification of cardiac mesoderm in embryonic stem cells by Yu Liu, Masanori Asakura, Hironori Inoue, Teruya Nakamura, Motoaki Sano, Zhiyv Niu, Michelle Chen, Robert J. Schwartz, Michael Schneider

    Published 2007
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  5. 5
    Parsonage-Turner Syndrome and Hereditary Brachial Plexus Neuropathy

    Parsonage-Turner Syndrome and Hereditary Brachial Plexus Neuropathy by James B. Meiling, Andrea J. Boon, Zhiyv Niu, Benjamin M. Howe, Sumedh S. Hoskote, Robert J. Spinner, Christopher J. Klein

    Published 2024
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  6. 6
    Serum response factor orchestrates nascent sarcomerogenesis and silences the biomineralization gene program in the heart

    Serum response factor orchestrates nascent sarcomerogenesis and silences the biomineralization gene program in the heart by Zhiyv Niu, Dinakar Iyer, Simon J. Conway, James F. Martin, Kathryn N. Ivey, Deepak Srivastava, Alfred Nordheim, Robert J. Schwartz

    Published 2008
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  7. 7
    Conditional Mutagenesis of the Murine Serum Response Factor Gene Blocks Cardiogenesis and the Transcription of Downstream Gene Targets

    Conditional Mutagenesis of the Murine Serum Response Factor Gene Blocks Cardiogenesis and the Transcription of Downstream Gene Targets by Zhiyv Niu, Wei Yu, Shu Xing Zhang, Matthew Barron, Narasimhaswamy S. Belaguli, Michael Schneider, Michael S. Parmacek, Alfred Nordheim, Robert J. Schwartz

    Published 2005
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  8. 8
    SMYD1, the myogenic activator, is a direct target of serum response factor and myogenin

    SMYD1, the myogenic activator, is a direct target of serum response factor and myogenin by Dali Li, Zhiyv Niu, Wei Yu, Yi Qian, Qun Wang, Qiao Li, Yi Zhuo, Jian Luo, Xiushan Wu, Yuan Wang, Robert J. Schwartz, Mingyao Liu

    Published 2009
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  9. 9
    Hepatocellular carcinoma associated with tight‐junction protein 2 deficiency

    Hepatocellular carcinoma associated with tight‐junction protein 2 deficiency by Shengmei Zhou, Paula M. Hertel, Milton J. Finegold, Larry Wang, Nanda Kerkar, Jing Wang, Lee‐Jun C. Wong, Sharon E. Plon, Melissa Sambrotta, Pierre Foskett, Zhiyv Niu, Richard J. Thompson, A. S. Knisely

    Published 2015
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  10. 10
    Mitochondrial myopathy, lactic acidosis, and sideroblastic anemia (MLASA) plus associated with a novel de novo mutation (m.8969G&gt;A) in the mitochondrial encoded ATP6 gene

    Mitochondrial myopathy, lactic acidosis, and sideroblastic anemia (MLASA) plus associated with a novel de novo mutation (m.8969G&gt;A) in the mitochondrial encoded ATP6 gene by Lindsay C. Burrage, Sha Tang, Jing Wang, Taraka Donti, Magdalena Walkiewicz, James M. Luchak, Li-Chieh Chen, Eric Schmitt, Zhiyv Niu, Rodrigo Eraña, Jill V. Hunter, Brett H. Graham, Lee-Jun Wong, Fernando Scaglia

    Published 2014
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  11. 11
    Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders

    Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders by Yaping Yang, Donna M. Muzny, Jeffrey G. Reid, Matthew N. Bainbridge, Alecia Willis, Patricia A. Ward, Alicia Braxton, Joke Beuten, Fan Xia, Zhiyv Niu, Matthew T. Hardison, Richard Person, Mir Reza Bekheirnia, Magalie S. Leduc, Amelia Kirby, Peter Pham, Jennifer Scull, Min Wang, Yan Ding, Sharon E. Plon, James R. Lupski, Arthur L. Beaudet, Richard A. Gibbs, Christine M. Eng

    Published 2013
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  12. 12
    Molecular diagnostic experience of whole-exome sequencing in adult patients

    Molecular diagnostic experience of whole-exome sequencing in adult patients by Jennifer E. Posey, Jill A. Rosenfeld, Regis A. James, Matthew N. Bainbridge, Zhiyv Niu, Xia Wang, Shweta U. Dhar, Wojciech Wiszniewski, Zeynep H. Coban Akdemir, Tomasz Gambin, Fan Xia, Richard Person, Magdalena Walkiewicz, Chad A. Shaw, V. Reid Sutton, Arthur L. Beaudet, Donna M. Muzny, Christine M. Eng, Yaping Yang, Richard A. Gibbs, James R. Lupski, Eric Boerwinkle, Sharon E. Plon

    Published 2015
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  13. 13
    POGZ truncating alleles cause syndromic intellectual disability

    POGZ truncating alleles cause syndromic intellectual disability by Janson J. White, Christine R. Beck, Tamar Harel, Jennifer E. Posey, Shalini N. Jhangiani, Sha Tang, Kelly D. Farwell, Zöe Powis, Nancy J. Mendelsohn, Janice Baker, Lynda Pollack, Kati J. Mason, Klaas J. Wierenga, Daniel K. Arrington, Melissa Hall, Apostolos Psychogios, Laura Fairbrother, Magdalena Walkiewicz, Richard Person, Zhiyv Niu, Jing Zhang, Jill A. Rosenfeld, Donna M. Muzny, Christine M. Eng, Arthur L. Beaudet, James R. Lupski, Eric Boerwinkle, Richard A. Gibbs, Yaping Yang, Fan Xia, V. Reid Sutton

    Published 2016
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  14. 14
    Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing

    Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing by Yaping Yang, Donna M. Muzny, Fan Xia, Zhiyv Niu, Richard Person, Yan Ding, Patricia A. Ward, Alicia Braxton, Min Wang, Christian Buhay, Narayanan Veeraraghavan, Alicia Hawes, Theodore Chiang, Magalie S. Leduc, Joke Beuten, Jing Zhang, Weimin He, Jennifer Scull, Alecia Willis, Megan Landsverk, William J. Craigen, Mir Reza Bekheirnia, Asbjørg Stray‐Pedersen, Pengfei Liu, Shu Wen, Wendy Alcaraz, Hong Cui, Magdalena Walkiewicz, Jeffrey G. Reid, Matthew N. Bainbridge, Ankita Patel, Eric Boerwinkle, Arthur L. Beaudet, James R. Lupski, Sharon E. Plon, Richard A. Gibbs, Christine M. Eng

    Published 2014
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  15. 15
    Mutations in PURA Cause Profound Neonatal Hypotonia, Seizures, and Encephalopathy in 5q31.3 Microdeletion Syndrome

    Mutations in PURA Cause Profound Neonatal Hypotonia, Seizures, and Encephalopathy in 5q31.3 Microdeletion Syndrome by Seema R. Lalani, Jing Zhang, Christian P. Schaaf, Chester Brown, Pilar Magoulas, Anne Chun‐Hui Tsai, Areeg El‐Gharbawy, Klaas J. Wierenga, Dennis Bartholomew, Chin-To Fong, Tina Barbaro‐Dieber, Mary K. Kukolich, Lindsay C. Burrage, Elise G. Austin, Kory Keller, Matthew Pastore, Fabio Fernandez, Timothy Lotze, Angus A. Wilfong, Gabriela Purcarin, Wenmiao Zhu, William J. Craigen, Marianne McGuire, Mahim Jain, Erin Cooney, Mahshid S. Azamian, Matthew N. Bainbridge, Donna M. Muzny, Eric Boerwinkle, Richard Person, Zhiyv Niu, Christine M. Eng, James R. Lupski, Richard A. Gibbs, Arthur L. Beaudet, Yaping Yang, Meng C. Wang, Fan Xia

    Published 2014
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  16. 16
    De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females

    De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females by Elizabeth E. Palmer, Till Stuhlmann, Stefanie Weinert, Eric Haan, Hilde Van Esch, Maureen Holvoet, Jackie Boyle, Melanie Leffler, Martine Raynaud, Claude Moraine, Hans van Bokhoven, Tjitske Kleefstra, Kimia Kahrizi, Hossein Najmabadi, H‐H Ropers, Mauricio R. Delgado, Deepa Sirsi, Sailaja Golla, Annemarie Sommer, Marguerite Pietryga, Wendy K. Chung, Julia Wynn, Luis Rohena, Erika Bernardo, Damara R. Hamlin, Brian M. Faux, Dorothy K. Grange, Linda Manwaring, John Tolmie, Shelagh Joss, Jan M. Cobben, Floor A.M. Duijkers, Jessica Goehringer, Thomas D. Challman, Friederike Hennig, Utz Fischer, Acadia L. Grimme, Vanessa Suckow, Luciana Musante, J. Nicholl, M Shaw, Suhrid Lodh, Zhiyv Niu, Jill A. Rosenfeld, Paweł Stankiewicz, Thomas J. Jentsch, Jozef Gécz, Michael Field, Vera M. Kalscheuer

    Published 2016
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  17. 17
    The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change

    The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change by Heidi L. Rehm, Joseph T. Alaimo, Swaroop Aradhya, Pınar Bayrak‐Toydemir, Hunter Best, Rhonda Brandon, Jillian G. Buchan, Elizabeth Chao, Elaine Chen, Jacob Clifford, Ana S.A. Cohen, Laura K. Conlin, Soma Das, Kyle Davis, Daniela del Gaudio, Florencia Del Viso, Christina DiVincenzo, Marcia Eisenberg, Lucia Guidugli, Monia Hammer, Steven M. Harrison, Kathryn E. Hatchell, Lindsay Havens Dyer, Lily Hoang, James Holt, Vaidehi Jobanputra, Izabela Karbassi, Hutton M. Kearney, Melissa Kelly, Jacob M. Kelly, Michelle L. Kluge, Timothy Komala, Paul Kruszka, Lynette Lau, Matthew S. Lebo, Christian R. Marshall, Dianalee McKnight, Kirsty McWalter, Yan Meng, Narasimhan Nagan, Christian S. Neckelmann, Nir Neerman, Zhiyv Niu, Vitoria Paolillo, Sarah A Paolucci, Denise Perry, Tina Pesaran, Kelly Radtke, Kristen Rasmussen, Kyle Retterer, Carol Saunders, Elizabeth Spiteri, Christine M. Stanley, Anna Szuto, Ryan J. Taft, Isabelle Thiffault, Brittany C. Thomas, Amanda Thomas‐Wilson, Erin Thorpe, Timothy Tidwell, Meghan C. Towne, Hana Zouk, Christian Marshall, Linyan Meng, Vaidehi Jobanputra, Ryan J. Taft, Euan A. Ashley, Ghunwa Nakouzi, Wei Shen, Stephen F. Kingsmore, Heidi L. Rehm

    Published 2023
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  18. 18
    Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome

    Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome by Sarah Stephenson, Gregory Costain, Laura E.R. Blok, Michael Silk, Thanh Nguyen, Xiaomin Dong, Dana E. Alhuzaimi, James J. Dowling, Susan Walker, Kimberly Amburgey, Robin Z. Hayeems, Lance H. Rodan, Marc A. Schwartz, Jonathan Picker, Sally Ann Lynch, Aditi Gupta, Kristen Rasmussen, Lisa A. Schimmenti, Eric W. Klee, Zhiyv Niu, Katherine Agre, Ilana Chilton, Wendy K. Chung, Anya Revah‐Politi, Ping Yee Billie Au, Christopher Griffith, Melissa Racobaldo, Annick Raas‐Rothschild, Bruria Ben Zeev, Ortal Barel, Sébastien Moutton, Fanny Morice‐Picard, Virginie Carmignac, Jenny Cornaton, Nathalie Marle, Orrin Devinsky, Chandler L. Stimach, Stephanie Burns Wechsler, Bryan E. Hainline, Katie Sapp, Marjolaine Willems, Ange‐Line Bruel, Kerith‐Rae Dias, Carey‐Anne Evans, Tony Roscioli, Rani Sachdev, Suzanna E.L. Temple, Ying Zhu, Joshua Baker, Ingrid E. Scheffer, Fiona Gardiner, Amy L. Schneider, Alison M. Muir, Heather C Mefford, Amy Crunk, Elizabeth M. Heise, Francisca Millan, Kristin G. Monaghan, Richard Person, Lindsay Rhodes, Sarah Richards, Ingrid M. Wentzensen, Benjamin Cogné, Bertrand Isidor, Mathilde Nizon, Marie Vincent, Thomas Besnard, Amélie Piton, Carlo Marcelis, Kohji Kato, Norihisa Koyama, Tomoo Ogi, Elaine Goh, Christopher M. Richmond, David J. Amor, Jessica O. Boyce, Angela Morgan, Michael S. Hildebrand, Antony Kaspi, Melanie Bahlo, Rún Friðriksdóttir, Hildigunnur Katrínardóttir, Patrick Sulem, Kāri Stefánsson, Hans T. Björnsson, Simone Mandelstam, Manuela Morleo, Milena Mariani, Marcello Scala, Andrea Accogli, Annalaura Torella, Valeria Capra, Mathew Wallis, Sandra Jansen, Quinten Waisfisz, Hugoline G. de Haan, Simon Sadedin, Sze Chern Lim, Susan M. White, David B. Ascher

    Published 2022
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