Review
Oncology
Reynand Jay Canoy, Anna Shmakova, Anna Karpukhina, Mikhail Shepelev, Diego Germini, Yegor Vassetzky
Summary: Chromosomal translocations are products of the illegitimate repair of DNA double-strand breaks, leading to the illegitimate joining of non-homologous chromosomal ends. They are associated with various diseases. The formation of chromosomal translocations is not only influenced by the proximity of gene loci, but also regulated by other cellular factors.
Article
Multidisciplinary Sciences
Yusuke Azami, Naohiro Tsuyama, Yu Abe, Misaki Sugai-Takahashi, Ken-ichi Kudo, Akinobu Ota, Karnan Sivasundaram, Moe Muramatsu, Tomonari Shigemura, Megumi Sasatani, Yuko Hashimoto, Shigehira Saji, Kenji Kamiya, Ichiro Hanamura, Takayuki Ikezoe, Masafumi Onodera, Akira Sakai
Summary: This study established BiPSCs with reciprocal chromosomal translocations using the CRISPR/Cas9 system, investigating the mechanism of myeloma-initiating cells during B cell redifferentiation. Further research is needed to differentiate these BiPSCs-derived HPCs into B lymphocytes.
SCIENTIFIC REPORTS
(2021)
Article
Medicine, General & Internal
Guoming Chu, Pingping Li, Juan Wen, Gaoyan Zheng, Yanyan Zhao, Rong He
Summary: This study aimed to investigate the genotype-phenotype correlation of 5p deletion syndrome and redefine the relevant regions. Through studying three families and two children, different sizes of 5p deletions were detected and their pathogenicity was determined. Additionally, the potential of whole genome sequencing in identifying chromosomal breakpoints in prenatal diagnosis was demonstrated.
FRONTIERS IN MEDICINE
(2022)
Article
Cell Biology
Monserrat Gerardo-Ramirez, Vanessa Giam, Diana Becker, Marco Groth, Nils Hartmann, Helen Morrison, Helen L. May-Simera, Markus P. Radsak, Jens U. Marquardt, Peter R. Galle, Peter Herrlich, Beate K. Straub, Monika Hartmann
Summary: Primary liver cancer is a major cause of cancer-related death globally. The Hippo tumor suppressor pathway and its upstream regulator Merlin have been found to play critical roles in cell proliferation and fate determination in the liver. This study evaluated the contribution of CD44 and Merlin-dependent processes to liver tumor development and progression. While Merlin deletion led to liver enlargement and the formation of various liver tumors, deletion of CD44 had no effect on primary liver tumor development but significantly inhibited metastasis formation. CD44 upregulates integrin beta 2 expression and promotes transendothelial migration of liver cancer cells, suggesting it as a potential target for intervention in liver cancer metastasis.
Article
Genetics & Heredity
Qinxin Zhang, Yan Wang, Jing Zhou, Ran Zhou, An Liu, Lulu Meng, Xiuqing Ji, Ping Hu, Zhengfeng Xu
Summary: We report a case of a 13-year-old girl with a SHANK2 gene deletion and a duplication in chromosome 9. She exhibited various developmental delays and abnormalities. The study also involved the analysis of maternal family members who had reproductive problems. The results showed that the affected girl inherited a balanced chromosome translocation from her mother, and several disease-related genes were disrupted.
MOLECULAR GENETICS & GENOMIC MEDICINE
(2023)
Article
Biochemistry & Molecular Biology
Lina Lorenzen, Dennis Frank, Carsten Schwan, Robert Grosse
Summary: FMNL2 is upregulated in several cancers and plays important roles in cell migration, invasion, cell-cell adhesion and filopodia formation. Using structured illumination microscopy, it was found that FMNL2 promotes rapid and highly dynamic filopodia formation in epithelial cells while remaining on the tip of the growing filopodia. This filopodia tip localization depends on its N-terminal myristoylation and serine 1072 phosphorylation within the diaphanous-autoregulatory domain (DAD) by protein kinase C (PKC) alpha.
Article
Neurosciences
Zenghui Teng, Kurt Gottmann
Summary: This study found that overexpression of the synaptogenic protein LRRTM2 can induce hemisynapse formation between co-cultured neurons and astrocytes. However, the formation of fully functional synapses appears to require additional critical factors.
FRONTIERS IN MOLECULAR NEUROSCIENCE
(2022)
Article
Biotechnology & Applied Microbiology
Aisha A. AlJanahi, Cicera R. Lazzarotto, Shirley Chen, Tae-Hoon Shin, Stefan Cordes, Xing Fan, Isabel Jabara, Yifan Zhou, David J. Young, Byung-Chul Lee, Kyung-Rok Yu, Yuesheng Li, Bradley Toms, Ilker Tunc, So Gun Hong, Lauren L. Truitt, Julia Klermund, Geoffroy Andrieux, Miriam Y. Kim, Toni Cathomen, Saar Gill, Shengdar Q. Tsai, Cynthia E. Dunbar
Summary: This study compares the predictive values of two methods for off-target site prediction and validates the predicted off-target sites using error-corrected sequencing. The results show poor correlation between the predicted sites by the two methods and that the off-target edits did not exhibit expansion or abnormal behavior in vivo. The study also identifies a persistent translocation.
Article
Multidisciplinary Sciences
Sachiko Fujiwara, Thanh Phuong Nguyen, Kyoko Furuse, Yugo Fukazawa, Tetsuhisa Otani, Mikio Furuse
Summary: The interaction of claudins with ZO proteins is not a prerequisite for tight junction formation at the most apical part of cell-cell contacts.
ANNALS OF THE NEW YORK ACADEMY OF SCIENCES
(2022)
Review
Neurosciences
Oriol Busquets, Antoni Parcerisas, Ester Verdaguer, Miren Ettcheto, Antoni Camins, Carlos Beas-Zarate, Ruben Dario Castro-Torres, Carme Auladell
Summary: This review discusses the involvement of c-Jun N-terminal Kinases (JNKs) in early alterations of Alzheimer's disease (AD), including synaptic loss and dysregulation of neuronal transport. The interactions between JNKs and these processes contribute to cognitive decline in AD, with disruptions in cellular processes such as glutamatergic, GABA, and cholinergic synapses. Furthermore, the review highlights the role of the JNK-JIP complex in controlling neuronal transport and the impact of amyloid-beta aggregates and hyperphosphorylated tau on this process.
JOURNAL OF ALZHEIMERS DISEASE
(2021)
Article
Multidisciplinary Sciences
Xian Jiang, Richard Sando, Thomas C. Sudhof
Summary: The study revealed that interference with microtubules or actin filaments, JNKs, PKA, or AKT signaling pathways can affect heterologous synapse formation, with JNK and PKA inhibitors suppressing both pre- and postsynaptic specialization formation, while AKT inhibitors only impairing postsynaptic specialization formation. By targeting PTEN, an enzyme regulating AKT activation, to postsynaptic sites, a decrease in excitatory synapse function was observed, indicating a multifaceted and multistage kinase network underlying heterologous synapse formation.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2021)
Article
Neurosciences
Sheila Araujo Espirito-Santo, Vinicius G. Coutinho, Romulo S. Dezonne, Joice Stipursky, Alexandre Rodrigues, Carolina Batista, Roberto Paes-de-Carvalho, Babette Fuss, Flavia Carvalho Alcantara Gomes
Summary: The interaction between astrocytes and Nogo-A plays a significant role in neuronal synaptogenesis and plasticity, which could potentially serve as a target for therapeutic intervention in demyelinating diseases.
Article
Biochemistry & Molecular Biology
Jiyoon L. Kim, Shifra Ben-Dor, Eden Rosenfeld-Gur, Anthony H. Futerman
Summary: Ceramide, a lipid moiety synthesized by ceramide synthases, is involved in various cellular processes. This study identified a unique C-terminal motif in Ceramide synthases (CerSs), which plays a role in their enzymatic activity and interaction. Deletion of this motif affected the activity of CerS2 in the presence of CerS6, and disrupted the interaction between CerS2 and CerS6. Furthermore, deletion of the motif impacted cellular protein expression and levels of sphingolipid synthesis regulator, ORMDL1.
JOURNAL OF BIOLOGICAL CHEMISTRY
(2022)
Article
Gastroenterology & Hepatology
David F. Chang, Elizabeth A. Gilliam, Laura-Marie A. Nucho, Jazmin Garcia, Yevheniya Shevchenko, Samuel M. Zuber, Anthony Squillaro, Kathryn M. Maselli, Sha Huang, Jason R. Spence, Tracy C. Grikscheit
Summary: Mutations in the PHOX2B gene are associated with congenital central hypoventilation syndrome, with most patients having polyalanine repeat mutations. A specific nonsense mutation affects the translation of the PHOX2B protein, resulting in an impact on the development of intestinal neuronal cells.
AMERICAN JOURNAL OF PHYSIOLOGY-GASTROINTESTINAL AND LIVER PHYSIOLOGY
(2021)
Article
Multidisciplinary Sciences
Balazs Csaba Nemeth, Alexandra Demcsak, Andrea Geisz, Miklos Sahin-Toth
Summary: This study found that the transcription factor DDIT3/CHOP does not play a significant role in the development of misfolding-induced chronic pancreatitis in CPA1 N256K mice, indicating it is not a viable therapeutic target.
SCIENTIFIC REPORTS
(2022)
Article
Immunology
Masahiro Takeuchi, Tomomitsu Doi, Kunie Obayashi, Ayako Hirai, Kazue Yoneda, Fumihiro Tanaka, Yoshiko Iwai
IMMUNOLOGY LETTERS
(2018)
Article
Biochemistry & Molecular Biology
Tomomitsu Doi, Takanori Kanai, Yohei Mikami, Tomohisa Sujino, Li Jun, Yuichi Ono, Atsushi Hayashi, Toshifumi Hibi
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
(2012)
Article
Gastroenterology & Hepatology
Tomohisa Sujino, Takanori Kanai, Yuichi Ono, Yohei Mikami, Atsushi Hayashi, Tomomitsu Doi, Katsuyoshi Matsuoka, Tadakazu Hisamatsu, Hiromasa Takaishi, Haruhiko Ogata, Akihiko Yoshimura, Dan R. Littman, Toshifumi Hibi
Article
Immunology
Takahiro Mizukami, Takanori Kanai, Yohei Mikami, Atsushi Hayashi, Tomomitsu Doi, Tango Handa, Atsuhiro Matsumoto, Li Jun, Katsuyoshi Matsuoka, Toshiro Sato, Tadakazu Hisamatsu, Toshifumi Hibi
IMMUNOLOGY LETTERS
(2012)
Article
Immunology
Tomomitsu Doi, Kunie Obayashi, Takashi Kadowaki, Hideki Fujii, Shigeo Koyasu
INTERNATIONAL IMMUNOLOGY
(2008)
Article
Biology
Velizar Shivarov, Reiko Shinkura, Tomomitsu Doi, Nasim A. Begum, Hitoshi Nagaoka, Il-Mi Okazaki, Satomi Ito, Taichiro Nonaka, Kazuo Kinoshita, Tasuku Honjo
PHILOSOPHICAL TRANSACTIONS OF THE ROYAL SOCIETY B-BIOLOGICAL SCIENCES
(2009)
Article
Multidisciplinary Sciences
Taichiro Nonaka, Tomomitsu Doi, Takae Toyoshima, Masamichi Muramatsu, Tasuku Honjo, Kazuo Kinoshita
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2009)
Article
Multidisciplinary Sciences
Maki Kobayashi, Masatoshi Aida, Hitoshi Nagaoka, Nasim A. Begum, Yoko Kitawaki, Mikiyo Nakata, Andre Stanlie, Tomomitsu Doi, Lucia Kato, Il-mi Okazaki, Reiko Shinkura, Masamichi Muramatsu, Kazuo Kinoshita, Tasuku Honjo
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2009)
Article
Multidisciplinary Sciences
Nasim A. Begum, Andre Stanlie, Tomomitsu Doi, Yoko Sasaki, Hai Wei Jin, Yong Sung Kim, Hitoshi Nagaoka, Tasuku Honjo
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2009)
Article
Multidisciplinary Sciences
Lucia Kato, Nasim A. Begum, A. Maxwell Burroughs, Tomomitsu Doi, Jun Kawai, Carsten O. Daub, Takahisa Kawaguchi, Fumihiko Matsuda, Yoshihide Hayashizaki, Tasuku Honjo
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2012)
Article
Multidisciplinary Sciences
Tomomitsu Doi, Hyun-Jeong Kwon, Tomoyuki Honda, Hiroki Sato, Misako Yoneda, Chieko Kai
SCIENTIFIC REPORTS
(2016)
Article
Biochemistry & Molecular Biology
Yuko Takeshita, Takeshi Motohara, Tsuyoshi Kadomatsu, Tomomitsu Doi, Kunie Obayashi, Yuichi Oike, Hidetaka Katabuchi, Motoyoshi Endo
Summary: The study indicates that ANGPTL2 expression in ovarian cancer cells represses peritoneal metastasis by suppressing anoikis resistance. Cells expressing ANGPTL2 showed decreased formation of metastasis in the mouse intraperitoneal xenograft model. This suggests a potential therapeutic target for inhibiting ovarian cancer peritoneal metastasis.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
(2021)
Article
Multidisciplinary Sciences
Tomomitsu Doi, Hironori Hojo, Shinsuke Ohba, Kunie Obayashi, Motoyoshi Endo, Toshimasa Ishizaki, Akira Katoh, Hiroyuki Kouji
Summary: This study investigates the regulatory mechanisms underlying β-catenin coactivator usage in human pancreatic carcinoma cells. The results suggest that AP-1 may coordinate the usage of β-catenin coactivators in these cells.
Article
Immunology
Fumiko Shiroki, Satoshi Matsuda, Tomomitsu Doi, Mari Fujiwara, Yoshito Mochizuki, Takashi Kadowaki, Harumi Suzuki, Shigeo Koyasu
JOURNAL OF IMMUNOLOGY
(2007)