Zobrazeno 1 - 10
of 19
pro vyhledávání: '"Hyunglok Chung"'
Autor:
Oguz Kanca, Jonathan Zirin, Jorge Garcia-Marques, Shannon Marie Knight, Donghui Yang-Zhou, Gabriel Amador, Hyunglok Chung, Zhongyuan Zuo, Liwen Ma, Yuchun He, Wen-Wen Lin, Ying Fang, Ming Ge, Shinya Yamamoto, Karen L Schulze, Yanhui Hu, Allan C Spradling, Stephanie E Mohr, Norbert Perrimon, Hugo J Bellen
Publikováno v:
eLife, Vol 8 (2019)
We previously reported a CRISPR-mediated knock-in strategy into introns of Drosophila genes, generating an attP-FRT-SA-T2A-GAL4-polyA-3XP3-EGFP-FRT-attP transgenic library for multiple uses (Lee et al., 2018a). The method relied on double stranded DN
Externí odkaz:
https://doaj.org/article/fbf9b18e540242aa9bc3f668e020beb1
Autor:
Carlos A. Bacino, Jill A. Rosenfeld, Hyunglok Chung, Lindsay C. Burrage, Hugo J. Bellen, Pengfei Liu, Hongyu Long, David R. Murdock, Bo Xiao, Xiao Mao, Hsiao-Tuan Chao, Ye-Jin Park, Li Feng, Hua Wang, Michael F. Wangler, Shinya Yamamoto, Paul C. Marcogliese
Publikováno v:
Am J Hum Genet
We identified three unrelated individuals with de novo missense variants in CDK19, encoding a cyclin-dependent kinase protein family member that predominantly regulates gene transcription. These individuals presented with hypotonia, global developmen
Autor:
Paul C. Marcogliese, Debdeep Dutta, Shrestha Sinha Ray, Nghi D. P. Dang, Zhongyuan Zuo, Yuchun Wang, Di Lu, Fatima Fazal, Thomas A. Ravenscroft, Hyunglok Chung, Oguz Kanca, JiJun Wan, Emilie D. Douine, Undiagnosed Diseases Network, Loren D. M. Pena, Shinya Yamamoto, Stanley F. Nelson, Matthew Might, Kathrin C. Meyer, Nan Cher Yeo, Hugo J. Bellen
Publikováno v:
Science Advances, vol 8, iss 3
Science Advances
Science Advances
De novo truncations in Interferon Regulatory Factor 2 Binding Protein Like (IRF2BPL) lead to severe childhood-onset neurodegenerative disorders. To determine how loss of IRF2BPL causes neural dysfunction, we examined its function in Drosophila and ze
Publikováno v:
J Neurosci Res
X-linked adrenoleukodystrophy (X-ALD) is a phenotypically heterogeneous disorder involving defective peroxisomal β-oxidation of very long-chain fatty acids (VLCFAs), due to mutation in the ABCD1 gene. X-ALD is the most common peroxisomal in-born err
Autor:
Oguz Kanca, Hugo J. Bellen, Roelens F, Tatjana Bierhals, Hannah Stamberger, Heather C Mefford, Tasja Scholz, DeJonghe P, Sarah Weckhuysen, Katharina Hermann, Jolien Roovers, Myers Ct, Shinya Yamamoto, Smal N, Dilsad Turkdogan, Sathiya N. Manivannan, Hyunglok Chung
FZR1, which encodes the Cdh1 subunit of the Anaphase Promoting Complex, plays an important role in neurodevelopment by regulating cell cycle and by its multiple post-mitotic functions in neurons. In this study, evaluation of 250 unrelated patients wi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c8f543c5e91c84445ca678abfc64ed15
https://doi.org/10.1101/2021.06.12.21256778
https://doi.org/10.1101/2021.06.12.21256778
Autor:
Jawad Ahmed, Sayyed Fahim Shah, Emilie Falconnet, Hyunglok Chung, Emmanuelle Ranza, Stylianos E. Antonarakis, Tayseer Abdel Magid, Azhar Ali Qaisar, Ralf Scholz, Muhammad Ansar, Muhammad T. Sarwar, Hesham Aldhalaan, Paul C. Marcogliese, Federico Santoni, Ali Al-Otaibi, Eissa Faqeih, Mohammad Nael Elagabani, Hugo J. Bellen, Erik-Jan Kamsteeg, Sohail A. Paracha, Thomas A. Ravenscroft, Hans-Christian Kornau, Periklis Makrythanasis, Ali Alasmari
Publikováno v:
American Journal of Human Genetics, 105, 907-920
Am J Hum Genet
American Journal of Human Genetics, 105, 5, pp. 907-920
Am J Hum Genet
American Journal of Human Genetics, 105, 5, pp. 907-920
We report two consanguineous families with probands that exhibit intellectual disability, developmental delay, short stature, aphasia, and hypotonia in which homozygous non-synonymous variants were identified in IQSEC1 (GenBank: NM_001134382.3). In a
Autor:
Pei-Tseng Lee, Hyunglok Chung, J. Michael Harnish, Nicolas Chatron, Marieke F. van Dooren, Colleen M. Longley, Ning Liu, Michael F. Wangler, Sharayu Jangam, Sathiya N. Manivannan, Hsiao-Tuan Chao, Shinya Yamamoto, Hongling Pan, Xi Luo, Alfredo Brusco, Isabelle Sabatier, Martina Wilke, Oguz Kanca, Lisa Pavinato, Eleina M. England, Eva Maria Christina Schwaibold, Danqing Bei, Ronit Marom, Annalisa Vetro, Yu-Hsin Chao, Paul C. Marcogliese, Tahsin Stefan Barakat, Jill A. Rosenfeld, Gaetan Lesca, Samantha L. Deal, V Hemanjani Bhavana, Pankaj B. Agrawal, Brooke Hull, Amanda Gerard, Catherine A. Brownstein, Linda Z. Rossetti, Hillary K. Graves, Jonathan C. Andrews, Chaya N. Murali, Renzo Guerrini, Jill A. Madden, Nele A Haelterman, Roberto Keller, Marjon van Slegtenhorst
SummaryIndividuals with autism spectrum disorders (ASD) exhibit an increased burden ofde novovariants in a broadening range of genes. We functionally tested the effects of ASD missense variants usingDrosophilathrough ‘humanization’ rescue and ove
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::15687904b86384418e0e2659f5215cf8
https://doi.org/10.1101/2020.12.30.424813
https://doi.org/10.1101/2020.12.30.424813
Autor:
Hyunglok Chung, Aamir Nazir, Federico Santoni, Alkistis Manousopoulou, Hugo J. Bellen, Khitab Gul, Graeme C.M. Black, Maqsood Ali Ansari, Stylianos E. Antonarakis, Muhammad Ansar, Rachel L. Taylor, Constantin J. Pournaras, Samina Imtiaz, Emilie Falconnet, Jawad Ahmed, Inayat Shah, Sondas Saeed, Periklis Makrythanasis, Michel Guipponi, Muhammad T. Sarwar, Emmanuelle Ranza
Publikováno v:
Taylor, R L & Black, G 2018, ' Bi-allelic Loss-of-Function Variants in DNMBP Cause Infantile Cataracts ', American Journal of Human Genetics, vol. 103, no. 4, pp. 568-578 . https://doi.org/10.1016/j.ajhg.2018.09.004
Infantile and childhood-onset cataracts form a heterogeneous group of disorders; among the many genetic causes, numerous pathogenic variants in additional genes associated with autosomal-recessive infantile cataracts remain to be discovered. We ident
Autor:
Priya S. Shah, Nevan J. Krogan, Nichole Link, Burak Tepe, Beyhan Tüysüz, Hugo J. Bellen, Bilgen Bilge Geçkinli, James R. Lupski, Ganesh H. Mochida, Marjorie Withers, Ajay X. Thomas, Hatip Aydin, Ghayda M. Mirzaa, Benjamin R. Arenkiel, Angad Jolly, Robin D. Clark, Sedat Isikay, Tulay Tos, Hyunglok Chung
Publikováno v:
Developmental cell, vol 51, iss 6
Dev Cell
Dev Cell
The apical Par complex, which contains atypical protein kinase C (aPKC), Bazooka (Par-3), and Par-6, is required for establishing polarity during asymmetric division of neuroblasts in Drosophila, and its activity depends on L(2)gl. We show that loss
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::290993b760c987f9d60253c21c0672fe
https://escholarship.org/uc/item/4np6183x
https://escholarship.org/uc/item/4np6183x
Autor:
Allan C. Spradling, Hugo J. Bellen, Donghui Yang-Zhou, Wen-Wen Lin, Karen L. Schulze, Hyunglok Chung, Zhongyuan Zuo, Liwen Ma, Norbert Perrimon, Jonathan Zirin, Yanhui Hu, Yuchun He, Stephanie E. Mohr, Ying Fang, Gabriel Amador, Shannon Marie Knight, Shinya Yamamoto, Jorge Garcia-Marques, Oguz Kanca, Ming Ge
Publikováno v:
eLife, Vol 8 (2019)
eLife
eLife
We previously reported a CRISPR-mediated knock-in strategy into introns ofDrosophilagenes, generating anattP-FRT-SA-T2A-GAL4-polyA-3XP3-EGFP-FRT-attPtransgenic library for multiple uses (Lee et al., 2018b). The method relied on double stranded DNA (d