RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSS

Authors: Avinash V. Dharmadhikari, Maria Alba Abad, Sheraz Khan, Reza Maroofian, Tristan T. Sands, Farid Ullah, Itaru Samejima, Yanwen Shen, Martin A. Wear, Kiara E. Moore, Elena Kondakova, Natalia Mitina, Theres Schaub, Grace K. Lee, Christine H. Umandap, Sara M. Berger, Alejandro D. Iglesias, Bernt Popp, Rami Abou Jamra, Heinz Gabriel, Stefan Rentas, Alyssa L. Rippert, Christopher Gray, Kosuke Izumi, Laura K. Conlin, Daniel C. Koboldt, Theresa Mihalic Mosher, Scott E. Hickey, Dara V. F. Albert, Haley Norwood, Amy Feldman Lewanda, Hongzheng Dai, Pengfei Liu, Tadahiro Mitani, Dana Marafi, Hatice Koçak Eker, Davut Pehlivan, Jennifer E. Posey, Natalie C. Lippa, Natalie Vena, Erin L. Heinzen, David B. Goldstein, Cyril Mignot, Jean-Madeleine de Sainte Agathe, Nouriya Abbas Al-Sannaa, Mina Zamani, Saeid Sadeghian, Reza Azizimalamiri, Tahere Seifia, Maha S. Zaki, Ghada M. H. Abdel-Salam, Mohamed S. Abdel-Hamid, Lama Alabdi, Fowzan Sami Alkuraya, Heba Dawoud, Aya Lofty, Peter Bauer, Giovanni Zifarelli, Erum Afzal, Faisal Zafar, Stephanie Efthymiou, Daniel Gossett, Meghan C. Towne, Raey Yeneabat, Belen Perez-Duenas, Ana Cazurro-Gutierrez, Edgard Verdura, Veronica Cantarin-Extremera, Ana do Vale Marques, Aleksandra Helwak, David Tollervey, Sandeep N. Wontakal, Vimla S. Aggarwal, Jill A. Rosenfeld, Victor Tarabykin, Shinya Ohta, James R. Lupski, Henry Houlden, William C. Earnshaw, Erica E. Davis, A. Arockia Jeyaprakash, Jun Liao

Source: Nature Communications, Vol 16, Iss 1, Pp 1-24 (2025)

Subject Terms: Science

File Description: electronic resource

Relation: https://doaj.org/toc/2041-1723

Access URL: https://doaj.org/article/860e70257811492c86104f77a86c65ba

Structural variant allelic heterogeneity in MECP2 duplication syndrome provides insight into clinical severity and variability of disease expression

Authors: Davut Pehlivan, Jesse D. Bengtsson, Sameer S. Bajikar, Christopher M. Grochowski, Ming Yin Lun, Mira Gandhi, Angad Jolly, Alexander J. Trostle, Holly K. Harris, Bernhard Suter, Sukru Aras, Melissa B. Ramocki, Haowei Du, Michele G. Mehaffey, KyungHee Park, Ellen Wilkey, Cemal Karakas, Jesper J. Eisfeldt, Maria Pettersson, Lynn Liu, Marwan S. Shinawi, Virginia E. Kimonis, Wojciech Wiszniewski, Kyle Mckenzie, Timo Roser, Angela M. Vianna-Morgante, Alberto S. Cornier, Ahmed Abdelmoity, James P. Hwang, Shalini N. Jhangiani, Donna M. Muzny, Tadahiro Mitani, Kazuhiro Muramatsu, Shin Nabatame, Daniel G. Glaze, Jawid M. Fatih, Richard A. Gibbs, Zhandong Liu, Anna Lindstrand, Fritz J. Sedlazeck, James R. Lupski, Huda Y. Zoghbi, Claudia M. B. Carvalho

Source: Genome Medicine, Vol 16, Iss 1, Pp 1-23 (2024)

Subject Terms: MECP2 duplication syndrome, MRXSL, Tandem duplication, Terminal duplication, Clinical severity, Survival, Medicine, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/1756-994X

Access URL: https://doaj.org/article/3322a058f6454c1fa87047287255d6fb

Perampanel reduces seizure frequency in patients with developmental and epileptic encephalopathy for a long term

Authors: Hirokazu Yamagishi, Hitoshi Osaka, Kazuhiro Muramatsu, Karin Kojima, Yukifumi Monden, Tadahiro Mitani, Yuta Asakura, Keizo Wakae, Kohei Nagai, Toshihiro Tajima

Source: Scientific Reports, Vol 14, Iss 1, Pp 1-9 (2024)

Subject Terms: Perampanel, Lennox-Gastaut syndrome, Epilepsy with myoclonic atonic seizures, Long-term, Efficacy & safety, Medicine, Science

File Description: electronic resource

Relation: https://doaj.org/toc/2045-2322

Access URL: https://doaj.org/article/e9fd2f8406004e5a9074568569ab70c3

The impact of the Turkish population variome on the genomic architecture of rare disease traits

Authors: Zeynep Coban-Akdemir, Xiaofei Song, Francisco C. Ceballos, Davut Pehlivan, Ender Karaca, Yavuz Bayram, Tadahiro Mitani, Tomasz Gambin, Tugce Bozkurt-Yozgatli, Shalini N. Jhangiani, Donna M. Muzny, Richard A. Lewis, Pengfei Liu, Eric Boerwinkle, Ada Hamosh, Richard A. Gibbs, V. Reid Sutton, Nara Sobreira, Claudia M.B. Carvalho, Chad A. Shaw, Jennifer E. Posey, David Valle, James R. Lupski

Source: Genetics in Medicine Open, Vol 2, Iss , Pp 101830- (2024)

Subject Terms: Admixture, Consanguinity, Genomic architecture of rare disease traits, Runs of homozygosity, Turkish population, Genetics, QH426-470, Medicine

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2949774424009762; https://doaj.org/toc/2949-7744

Access URL: https://doaj.org/article/4b8466185e2c495d93ed506bd062f406

Deep clinicopathological phenotyping identifies a previously unrecognized pathogenic EMD splice variant

Authors: Daniel G. Calame, Jawid M. Fatih, Isabella Herman, Zeynep Coban‐Akdemir, Haowei Du, Tadahiro Mitani, Shalini N. Jhangiani, Dana Marafi, Richard A. Gibbs, Jennifer E. Posey, Vidya P. Mehta, Carrie A. Mohila, Farida Abid, Timothy E. Lotze, Davut Pehlivan, Adekunle M. Adesina, James R. Lupski

Source: Annals of Clinical and Translational Neurology, Vol 8, Iss 10, Pp 2052-2058 (2021)

Subject Terms: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: https://doaj.org/toc/2328-9503

Access URL: https://doaj.org/article/cb34fe521e7d4c82ae7f6de309954374

Biallelic GRM7 variants cause epilepsy, microcephaly, and cerebral atrophy

Authors: Dana Marafi, Tadahiro Mitani, Sedat Isikay, Jozef Hertecant, Mohammed Almannai, Kandamurugu Manickam, Rami Abou Jamra, Ayman W. El‐Hattab, Jaishen Rajah, Jawid M. Fatih, Haowei Du, Ender Karaca, Yavuz Bayram, Jaya Punetha, Jill A. Rosenfeld, Shalini N. Jhangiani, Eric Boerwinkle, Zeynep C. Akdemir, Serkan Erdin, Jill V. Hunter, Richard A. Gibbs, Davut Pehlivan, Jennifer E. Posey, James R. Lupski

Source: Annals of Clinical and Translational Neurology, Vol 7, Iss 5, Pp 610-627 (2020)

Subject Terms: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: https://doaj.org/toc/2328-9503

Access URL: https://doaj.org/article/8027663439ce453b9d8a5847b2e2185f

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Principles for the regulation of multiple developmental pathways by a versatile transcriptional factor, BLIMP1.

Authors: Tadahiro Mitani, Yukihiro Yabuta, Hiroshi Ohta, Tomonori Nakamura, Chika Yamashiro, Takuya Yamamoto, Mitinori Saitou, Kazuki Kurimoto

Source: Nucleic Acids Research; 12/1/2017, Vol. 45 Issue 21, p12152-12169, 18p, 1 Color Photograph, 2 Diagrams, 5 Graphs