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1. Music2P: A Multi-Modal AI-Driven Tool for Simplifying Album Cover Design

Author

Choi, Joong Ho, Choi, Geonyeong, Han, Ji-Eun, Yang, Wonjin, and Cheng, Zhi-Qi

Subjects
Computer Science - Multimedia, Computer Science - Artificial Intelligence, Computer Science - Human-Computer Interaction, H.5.1, H.5.5
Abstract

In today's music industry, album cover design is as crucial as the music itself, reflecting the artist's vision and brand. However, many AI-driven album cover services require subscriptions or technical expertise, limiting accessibility. To address these challenges, we developed Music2P, an open-source, multi-modal AI-driven tool that streamlines album cover creation, making it efficient, accessible, and cost-effective through Ngrok. Music2P automates the design process using techniques such as Bootstrapping Language Image Pre-training (BLIP), music-to-text conversion (LP-music-caps), image segmentation (LoRA), and album cover and QR code generation (ControlNet). This paper demonstrates the Music2P interface, details our application of these technologies, and outlines future improvements. Our ultimate goal is to provide a tool that empowers musicians and producers, especially those with limited resources or expertise, to create compelling album covers., Comment: Accepted at CIKM 2024 Demo Paper track. Project available at https://github.com/JC-78/Music2P

Published
2024

2. Carrot and Stick: Inducing Self-Motivation with Positive & Negative Feedback

Author

Sohn, Jimin, Cho, Jeihee, Lee, Junyong, Heo, Songmu, Han, Ji-Eun, and Mortensen, David R.

Subjects
Computer Science - Computation and Language, Computer Science - Artificial Intelligence
Abstract

Positive thinking is thought to be an important component of self-motivation in various practical fields such as education and the workplace. Previous work, including sentiment transfer and positive reframing, has focused on the positive side of language. However, self-motivation that drives people to reach their goals has not yet been studied from a computational perspective. Moreover, negative feedback has not yet been explored, even though positive and negative feedback are both necessary to grow self-motivation. To facilitate self-motivation, we propose CArrot and STICk (CASTIC) dataset, consisting of 12,590 sentences with 5 different strategies for enhancing self-motivation. Our data and code are publicly available at here., Comment: 10 pages, 8 figures

Published
2024

3. Enhancing Psychotherapy Counseling: A Data Augmentation Pipeline Leveraging Large Language Models for Counseling Conversations

Author

Kim, Jun-Woo, Han, Ji-Eun, Koh, Jun-Seok, Seo, Hyeon-Tae, and Chang, Du-Seong

Subjects
Computer Science - Computation and Language
Abstract

We introduce a pipeline that leverages Large Language Models (LLMs) to transform single-turn psychotherapy counseling sessions into multi-turn interactions. While AI-supported online counseling services for individuals with mental disorders exist, they are often constrained by the limited availability of multi-turn training datasets and frequently fail to fully utilize therapists' expertise. Our proposed pipeline effectively addresses these limitations. The pipeline comprises two main steps: 1) Information Extraction and 2) Multi-turn Counseling Generation. Each step is meticulously designed to extract and generate comprehensive multi-turn counseling conversations from the available datasets. Experimental results from both zero-shot and few-shot generation scenarios demonstrate that our approach significantly enhances the ability of LLMs to produce higher quality multi-turn dialogues in the context of mental health counseling. Our pipeline and dataset are publicly available https://github.com/jwkim-chat/A-Data-Augmentation-Pipeline-Leveraging-Large-Language-Models-for-Counseling-Conversations., Comment: IJCAI 2024 AI4Research workshop

Published
2024

4. PSYDIAL: Personality-based Synthetic Dialogue Generation using Large Language Models

Author

Han, Ji-Eun, Koh, Jun-Seok, Seo, Hyeon-Tae, Chang, Du-Seong, and Sohn, Kyung-Ah

Subjects
Computer Science - Computation and Language
Abstract

We present a novel end-to-end personality-based synthetic dialogue data generation pipeline, specifically designed to elicit responses from large language models via prompting. We design the prompts to generate more human-like dialogues considering real-world scenarios when users engage with chatbots. We introduce PSYDIAL, the first Korean dialogue dataset focused on personality-based dialogues, curated using our proposed pipeline. Notably, we focus on the Extraversion dimension of the Big Five personality model in our research. Experimental results indicate that while pre-trained models and those fine-tuned with a chit-chat dataset struggle to generate responses reflecting personality, models trained with PSYDIAL show significant improvements. The versatility of our pipeline extends beyond dialogue tasks, offering potential for other non-dialogue related applications. This research opens doors for more nuanced, personality-driven conversational AI in Korean and potentially other languages. Our code is publicly available at https://github.com/jiSilverH/psydial., Comment: LREC-COLING 2024 Main

Published
2024

5. Tuberculosis in otherwise healthy adults with inherited TNF deficiency

Author

Arias, Andrés A., Neehus, Anna-Lena, Ogishi, Masato, Meynier, Vincent, Krebs, Adam, Lazarov, Tomi, Lee, Angela M., Arango-Franco, Carlos A., Yang, Rui, Orrego, Julio, Corcini Berndt, Melissa, Rojas, Julian, Li, Hailun, Rinchai, Darawan, Erazo-Borrás, Lucia, Han, Ji Eun, Pillay, Bethany, Ponsin, Khoren, Chaldebas, Matthieu, Philippot, Quentin, Bohlen, Jonathan, Rosain, Jérémie, Le Voyer, Tom, Janotte, Till, Amarajeeva, Krishnajina, Soudée, Camille, Brollo, Marion, Wiegmann, Katja, Marquant, Quentin, Seeleuthner, Yoann, Lee, Danyel, Lainé, Candice, Kloos, Doreen, Bailey, Rasheed, Bastard, Paul, Keating, Narelle, Rapaport, Franck, Khan, Taushif, Moncada-Vélez, Marcela, Carmona, María Camila, Obando, Catalina, Alvarez, Jesús, Cataño, Juan Carlos, Martínez-Rosado, Larry Luber, Sanchez, Juan P., Tejada-Giraldo, Manuela, L’Honneur, Anne-Sophie, Agudelo, María L., Perez-Zapata, Lizet J., Arboleda, Diana M., Alzate, Juan Fernando, Cabarcas, Felipe, Zuluaga, Alejandra, Pelham, Simon J., Ensser, Armin, Schmidt, Monika, Velásquez-Lopera, Margarita M., Jouanguy, Emmanuelle, Puel, Anne, Krönke, Martin, Ghirardello, Stefano, Borghesi, Alessandro, Pahari, Susanta, Boisson, Bertrand, Pittaluga, Stefania, Ma, Cindy S., Emile, Jean-François, Notarangelo, Luigi D., Tangye, Stuart G., Marr, Nico, Lachmann, Nico, Salvator, Hélène, Schlesinger, Larry S., Zhang, Peng, Glickman, Michael S., Nathan, Carl F., Geissmann, Frédéric, Abel, Laurent, Franco, José Luis, Bustamante, Jacinta, Casanova, Jean-Laurent, and Boisson-Dupuis, Stéphanie

Published
2024
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6. American Sign Language Video to Text Translation

Author

Roy, Parsheeta, Han, Ji-Eun, Chouhan, Srishti, and Thumu, Bhaavanaa

Subjects
Computer Science - Computation and Language, Computer Science - Computer Vision and Pattern Recognition
Abstract

Sign language to text is a crucial technology that can break down communication barriers for individuals with hearing difficulties. We replicate and try to improve on a recently published study. We evaluate models using BLEU and rBLEU metrics to ensure translation quality. During our ablation study, we found that the model's performance is significantly influenced by optimizers, activation functions, and label smoothing. Further research aims to refine visual feature capturing, enhance decoder utilization, and integrate pre-trained decoders for better translation outcomes. Our source code is available to facilitate replication of our results and encourage future research.

Published
2024

9. Human STAT3 variants underlie autosomal dominant hyper-IgE syndrome by negative dominance

Author

Asano, Takaki, Khourieh, Joëlle, Zhang, Peng, Rapaport, Franck, Spaan, András N, Li, Juan, Lei, Wei-Te, Pelham, Simon J, Hum, David, Chrabieh, Maya, Han, Ji Eun, Guérin, Antoine, Mackie, Joseph, Gupta, Sudhir, Saikia, Biman, Baghdadi, Jamila EI, Fadil, Ilham, Bousfiha, Aziz, Habib, Tanwir, Marr, Nico, Ganeshanandan, Luckshman, Peake, Jane, Droney, Luke, Williams, Andrew, Celmeli, Fatih, Hatipoglu, Nevin, Ozcelik, Tayfun, Picard, Capucine, Abel, Laurent, Tangye, Stuart G, Boisson-Dupuis, Stéphanie, Zhang, Qian, Puel, Anne, Béziat, Vivien, Casanova, Jean-Laurent, and Boisson, Bertrand

Subjects
Rare Diseases, Genetics, Biotechnology, Aetiology, 2.1 Biological and endogenous factors, Adolescent, Adult, Alleles, Alternative Splicing, Child, Child, Preschool, Codon, Nonsense, Evolution, Molecular, Family, Female, Frameshift Mutation, Genes, Dominant, Genetics, Population, HEK293 Cells, Humans, Infant, Infant, Newborn, Job Syndrome, Male, Middle Aged, Mutation, Pedigree, Protein Biosynthesis, RNA, Messenger, STAT3 Transcription Factor, Medical and Health Sciences, Immunology
Abstract

Most patients with autosomal dominant hyper-IgE syndrome (AD-HIES) carry rare heterozygous STAT3 variants. Only six of the 135 in-frame variants reported have been experimentally shown to be dominant negative (DN), and it has been recently suggested that eight out-of-frame variants operate by haploinsufficiency. We experimentally tested these 143 variants, 7 novel out-of-frame variants found in HIES patients, and other STAT3 variants from the general population. Strikingly, all 15 out-of-frame variants were DN via their encoded (1) truncated proteins, (2) neoproteins generated from a translation reinitiation codon, and (3) isoforms from alternative transcripts or a combination thereof. Moreover, 128 of the 135 in-frame variants (95%) were also DN. The patients carrying the seven non-DN STAT3 in-frame variants have not been studied for other genetic etiologies. Finally, none of the variants from the general population tested, including an out-of-frame variant, were DN. Overall, our findings show that heterozygous STAT3 variants, whether in or out of frame, underlie AD-HIES through negative dominance rather than haploinsufficiency.

Published
2021

14. Synapse-specific control of experience-dependent plasticity by presynaptic NMDA receptors.

Author

Larsen, Rylan S, Smith, Ikuko T, Miriyala, Jayalakshmi, Han, Ji Eun, Corlew, Rebekah J, Smith, Spencer L, and Philpot, Benjamin D

Subjects
Visual Cortex, Synapses, Animals, Mice, Glutamic Acid, Receptors, N-Methyl-D-Aspartate, Receptors, Presynaptic, Photic Stimulation, Sensory Deprivation, Visual Perception, Neuronal Plasticity, Long-Term Synaptic Depression, Optogenetics, Neurosciences, Eye Disease and Disorders of Vision, 1.1 Normal biological development and functioning, Underpinning research, Neurological, Mental health, Psychology, Cognitive Sciences, Neurology & Neurosurgery
Abstract

Sensory experience orchestrates the development of cortical circuitry by adaptively modifying neurotransmission and synaptic connectivity. However, the mechanisms underlying these experience-dependent modifications remain elusive. Here we demonstrate that visual experience suppresses a presynaptic NMDA receptor (preNMDAR)-mediated form of timing-dependent long-term depression (tLTD) at visual cortex layer (L) 4-2/3 synapses. This tLTD can be maintained during development, or reinstated in adulthood, by sensory deprivation. The changes in tLTD are mirrored by changes in glutamate release; visual deprivation enhances both tLTD and glutamate release. These effects require the GluN3A NMDAR subunit, the levels of which are increased by visual deprivation. Further, by coupling the pathway-specific optogenetic induction of tLTD with cell-type-specific NMDAR deletion, we find that visual experience modifies preNMDAR-mediated plasticity specifically at L4-L2/3 synapses.

Published
2014

15. Genome-wide detection of human intronic AG-gain variants located between splicing branchpoints and canonical splice acceptor sites

Author

Zhang, Peng, primary, Chaldebas, Matthieu, additional, Ogishi, Masato, additional, Al Qureshah, Fahd, additional, Ponsin, Khoren, additional, Feng, Yi, additional, Rinchai, Darawan, additional, Milisavljevic, Baptiste, additional, Han, Ji Eun, additional, Moncada-Vélez, Marcela, additional, Keles, Sevgi, additional, Schröder, Bernd, additional, Stenson, Peter D., additional, Cooper, David N., additional, Cobat, Aurélie, additional, Boisson, Bertrand, additional, Zhang, Qian, additional, Boisson-Dupuis, Stéphanie, additional, Abel, Laurent, additional, and Casanova, Jean-Laurent, additional

Published
2023
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20. Consensus Definition of Blood Samples from the Subcategorized Normal Controls in the Korea Biobank Network

Author

Han, Ji Eun, primary, Park, Min Kyu, additional, Jin, Ju Hyun, additional, Lee, Jung Ah, additional, Park, Gyeongsin, additional, Park, Jong Sook, additional, Bae, Han-Ik, additional, Yun, Seok Joong, additional, Seo, An Na, additional, Han, Man-Hoon, additional, Lee, Hyoungnam, additional, Jeon, Jae-Pil, additional, Yu, Ji-In, additional, Kim, Soon Sun, additional, and Cheong, Jae Youn, additional

Published
2023
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25. Aberrantly Expressed MicroRNAs in Cancer-Associated Fibroblasts and Their Target Oncogenic Signatures in Hepatocellular Carcinoma

Author

Eun, Jung Woo, primary, Ahn, Hye Ri, additional, Baek, Geum Ok, additional, Yoon, Moon Gyeong, additional, Son, Ju A, additional, Weon, Ji Hyang, additional, Yoon, Jung Hwan, additional, Kim, Hyung Seok, additional, Han, Ji Eun, additional, Kim, Soon Sun, additional, Cheong, Jae Youn, additional, Kim, Bong-wan, additional, and Cho, Hyo Jung, additional

Published
2023
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27. Human IRF1 governs macrophagic IFN-γ immunity to mycobacteria

Author

Rosain, Jérémie, primary, Neehus, Anna-Lena, additional, Manry, Jérémy, additional, Yang, Rui, additional, Le Pen, Jérémie, additional, Daher, Wassim, additional, Liu, Zhiyong, additional, Chan, Yi-Hao, additional, Tahuil, Natalia, additional, Türel, Özden, additional, Bourgey, Mathieu, additional, Ogishi, Masato, additional, Doisne, Jean-Marc, additional, Izquierdo, Helena M., additional, Shirasaki, Takayoshi, additional, Le Voyer, Tom, additional, Guérin, Antoine, additional, Bastard, Paul, additional, Moncada-Vélez, Marcela, additional, Han, Ji Eun, additional, Khan, Taushif, additional, Rapaport, Franck, additional, Hong, Seon-Hui, additional, Cheung, Andrew, additional, Haake, Kathrin, additional, Mindt, Barbara C., additional, Pérez, Laura, additional, Philippot, Quentin, additional, Lee, Danyel, additional, Zhang, Peng, additional, Rinchai, Darawan, additional, Al Ali, Fatima, additional, Ahmad Ata, Manar Mahmoud, additional, Rahman, Mahbuba, additional, Peel, Jessica N., additional, Heissel, Søren, additional, Molina, Henrik, additional, Kendir-Demirkol, Yasemin, additional, Bailey, Rasheed, additional, Zhao, Shuxiang, additional, Bohlen, Jonathan, additional, Mancini, Mathieu, additional, Seeleuthner, Yoann, additional, Roelens, Marie, additional, Lorenzo, Lazaro, additional, Soudée, Camille, additional, Paz, María Elvira Josefina, additional, González, María Laura, additional, Jeljeli, Mohamed, additional, Soulier, Jean, additional, Romana, Serge, additional, L’Honneur, Anne-Sophie, additional, Materna, Marie, additional, Martínez-Barricarte, Rubén, additional, Pochon, Mathieu, additional, Oleaga-Quintas, Carmen, additional, Michev, Alexandre, additional, Migaud, Mélanie, additional, Lévy, Romain, additional, Alyanakian, Marie-Alexandra, additional, Rozenberg, Flore, additional, Croft, Carys A., additional, Vogt, Guillaume, additional, Emile, Jean-François, additional, Kremer, Laurent, additional, Ma, Cindy S., additional, Fritz, Jörg H., additional, Lemon, Stanley M., additional, Spaan, András N., additional, Manel, Nicolas, additional, Abel, Laurent, additional, MacDonald, Margaret R., additional, Boisson-Dupuis, Stéphanie, additional, Marr, Nico, additional, Tangye, Stuart G., additional, Di Santo, James P., additional, Zhang, Qian, additional, Zhang, Shen-Ying, additional, Rice, Charles M., additional, Béziat, Vivien, additional, Lachmann, Nico, additional, Langlais, David, additional, Casanova, Jean-Laurent, additional, Gros, Philippe, additional, and Bustamante, Jacinta, additional

Published
2023
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29. Inherited human ITK deficiency impairs IFN-γ immunity and underlies tuberculosis

Author

Ogishi, Masato, primary, Yang, Rui, additional, Rodriguez, Rémy, additional, Golec, Dominic P., additional, Martin, Emmanuel, additional, Philippot, Quentin, additional, Bohlen, Jonathan, additional, Pelham, Simon J., additional, Arias, Andrés Augusto, additional, Khan, Taushif, additional, Ata, Manar, additional, Al Ali, Fatima, additional, Rozenberg, Flore, additional, Kong, Xiao-Fei, additional, Chrabieh, Maya, additional, Laine, Candice, additional, Lei, Wei-Te, additional, Han, Ji Eun, additional, Seeleuthner, Yoann, additional, Kaul, Zenia, additional, Jouanguy, Emmanuelle, additional, Béziat, Vivien, additional, Youssefian, Leila, additional, Vahidnezhad, Hassan, additional, Rao, V. Koneti, additional, Neven, Bénédicte, additional, Fieschi, Claire, additional, Mansouri, Davood, additional, Shahrooei, Mohammad, additional, Pekcan, Sevgi, additional, Alkan, Gulsum, additional, Emiroğlu, Melike, additional, Tokgöz, Hüseyin, additional, Uitto, Jouni, additional, Hauck, Fabian, additional, Bustamante, Jacinta, additional, Abel, Laurent, additional, Keles, Sevgi, additional, Parvaneh, Nima, additional, Marr, Nico, additional, Schwartzberg, Pamela L., additional, Latour, Sylvain, additional, Casanova, Jean-Laurent, additional, and Boisson-Dupuis, Stéphanie, additional

Published
2022
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33. Impaired IL-23–dependent induction of IFN-γ underlies mycobacterial disease in patients with inherited TYK2 deficiency

Author

Ogishi, Masato, primary, Arias, Andrés Augusto, additional, Yang, Rui, additional, Han, Ji Eun, additional, Zhang, Peng, additional, Rinchai, Darawan, additional, Halpern, Joshua, additional, Mulwa, Jeanette, additional, Keating, Narelle, additional, Chrabieh, Maya, additional, Lainé, Candice, additional, Seeleuthner, Yoann, additional, Ramírez-Alejo, Noé, additional, Nekooie-Marnany, Nioosha, additional, Guennoun, Andrea, additional, Muller-Fleckenstein, Ingrid, additional, Fleckenstein, Bernhard, additional, Kilic, Sara S., additional, Minegishi, Yoshiyuki, additional, Ehl, Stephan, additional, Kaiser-Labusch, Petra, additional, Kendir-Demirkol, Yasemin, additional, Rozenberg, Flore, additional, Errami, Abderrahmane, additional, Zhang, Shen-Ying, additional, Zhang, Qian, additional, Bohlen, Jonathan, additional, Philippot, Quentin, additional, Puel, Anne, additional, Jouanguy, Emmanuelle, additional, Pourmoghaddas, Zahra, additional, Bakhtiar, Shahrzad, additional, Willasch, Andre M., additional, Horneff, Gerd, additional, Llanora, Genevieve, additional, Shek, Lynette P., additional, Chai, Louis Y.A., additional, Tay, Sen Hee, additional, Rahimi, Hamid H., additional, Mahdaviani, Seyed Alireza, additional, Nepesov, Serdar, additional, Bousfiha, Aziz A., additional, Erdeniz, Emine Hafize, additional, Karbuz, Adem, additional, Marr, Nico, additional, Navarrete, Carmen, additional, Adeli, Mehdi, additional, Hammarstrom, Lennart, additional, Abolhassani, Hassan, additional, Parvaneh, Nima, additional, Al Muhsen, Saleh, additional, Alosaimi, Mohammed F., additional, Alsohime, Fahad, additional, Nourizadeh, Maryam, additional, Moin, Mostafa, additional, Arnaout, Rand, additional, Alshareef, Saad, additional, El-Baghdadi, Jamila, additional, Genel, Ferah, additional, Sherkat, Roya, additional, Kiykim, Ayça, additional, Yücel, Esra, additional, Keles, Sevgi, additional, Bustamante, Jacinta, additional, Abel, Laurent, additional, Casanova, Jean-Laurent, additional, and Boisson-Dupuis, Stéphanie, additional

Published
2022
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37. The Relationship between Changes in Systemic Blood Viscosity and Transcranial Doppler Pulsatility in Lacunar Stroke

Author

Kim Eung-Gyu, Park Joong-Hyun, Kim Tae-Min, Han Ji-Eun, Oh Jin-Young, Kim，Jeong-Yeon, Baik Jong-Sam, Han Sang-Won, and Park，Jae-Hyeon

Subjects
medicine.medical_specialty, Lacunar stroke, Systemic blood, business.industry, Blood viscosity, medicine.disease, Transcranial Doppler, Viscosity, Internal medicine, Cardiology, medicine, Ultrasonography, business, Stroke
Published
2020

38. Impaired IL-23-dependent induction of IFN-gamma underlies mycobacterial disease in patients with inherited TYK2 deficiency

Author

Ogishi, Masato, Augusto Arias, Andres, Yang, Rui, Han, Ji Eun, Zhang, Peng, Rinchai, Darawan, Halpern, Joshua, Mulwa, Jeanette, Keating, Narelle, Chrabieh, Maya, Laine, Candice, Seeleuthner, Yoann, Ramirez-Alejo, Noe, Nekooie-Marnany, Nioosha, Guennoun, Andrea, Muller-Fleckenstein, Ingrid, Fleckenstein, Bernhard, Kilic, Sara S., Minegishi, Yoshiyuki, Ehl, Stephan, Kaiser-Labusch, Petra, Kendir-Demirkol, Yasemin, Rozenberg, Flore, Errami, Abderrahmane, Zhang, Shen-Ying, Zhang, Qian, Bohlen, Jonathan, Puel, Anne, Jouanguy, Emmanuelle, Pourmoghaddas, Zahra, Bakhtiar, Shahrzad, Willasch, Andre M., Horneff, Gerd, Llanora, Genevieve, Shek, Lynette P., Chai, Louis Y. A., Tay, Sen Hee, Rahimi, Hamid H., Mahdaviani, Seyed Alireza, Nepesov, Serdar, Bousfiha, Aziz A., Erdeniz, Emine Hafize, Karbuz, Adem, Marr, Nico, Navarrete, Carmen, Adeli, Mehdi, Hammarstrom, Lennart, Abolhassani, Hassan, Parvaneh, Nima, Al Muhsen, Saleh, Alosaimi, Mohammed F., Alsohime, Fahad, Nourizadeh, Maryam, Moin, Mostafa, Arnaout, Rand, Alshareef, Saad, El-Baghdadi, Jamila, Genel, Ferah, Sherkat, Roya, Kiykim, Ayca, Yucel, Esra, Keles, Sevgi, Bustamante, Jacinta, Abel, Laurent, Casanova, Jean-Laurent, Boisson-Dupuis, Stephanie, Ogishi, Masato, Augusto Arias, Andres, Yang, Rui, Han, Ji Eun, Zhang, Peng, Rinchai, Darawan, Halpern, Joshua, Mulwa, Jeanette, Keating, Narelle, Chrabieh, Maya, Laine, Candice, Seeleuthner, Yoann, Ramirez-Alejo, Noe, Nekooie-Marnany, Nioosha, Guennoun, Andrea, Muller-Fleckenstein, Ingrid, Fleckenstein, Bernhard, Kilic, Sara S., Minegishi, Yoshiyuki, Ehl, Stephan, Kaiser-Labusch, Petra, Kendir-Demirkol, Yasemin, Rozenberg, Flore, Errami, Abderrahmane, Zhang, Shen-Ying, Zhang, Qian, Bohlen, Jonathan, Puel, Anne, Jouanguy, Emmanuelle, Pourmoghaddas, Zahra, Bakhtiar, Shahrzad, Willasch, Andre M., Horneff, Gerd, Llanora, Genevieve, Shek, Lynette P., Chai, Louis Y. A., Tay, Sen Hee, Rahimi, Hamid H., Mahdaviani, Seyed Alireza, Nepesov, Serdar, Bousfiha, Aziz A., Erdeniz, Emine Hafize, Karbuz, Adem, Marr, Nico, Navarrete, Carmen, Adeli, Mehdi, Hammarstrom, Lennart, Abolhassani, Hassan, Parvaneh, Nima, Al Muhsen, Saleh, Alosaimi, Mohammed F., Alsohime, Fahad, Nourizadeh, Maryam, Moin, Mostafa, Arnaout, Rand, Alshareef, Saad, El-Baghdadi, Jamila, Genel, Ferah, Sherkat, Roya, Kiykim, Ayca, Yucel, Esra, Keles, Sevgi, Bustamante, Jacinta, Abel, Laurent, Casanova, Jean-Laurent, and Boisson-Dupuis, Stephanie

Abstract

Human cells homozygous for rare loss-of-expression (LOE) TYK2 alleles have impaired, but not abolished, cellular responses to IFN-alpha/beta (underlying viral diseases in the patients) and to IL-12 and IL-23 (underlying mycobacterial diseases). Cells homozygous for the common P1104A TYK2 allele have selectively impaired responses to IL-23 (underlying isolated mycobacterial disease). We report three new forms of TYK2 deficiency in six patients from five families homozygous for rare TYK2 alleles (R864C, G996R, G634E, or G1010D) or compound heterozygous for P1104A and a rare allele (A928V). All these missense alleles encode detectable proteins. The R864C and G1010D alleles are hypomorphic and loss-of-function (LOF), respectively, across signaling pathways. By contrast, hypomorphic G996R, G634E, and A928V mutations selectively impair responses to IL-23, like P1104A. Impairment of the IL-23-dependent induction of IFN-gamma is the only mechanism of mycobacterial disease common to patients with complete TYK2 deficiency with or without TYK2 expression, partial TYK2 deficiency across signaling pathways, or rare or common partial TYK2 deficiency specific for IL-23 signaling.

Published
2022

41. Teleophthalmology-enabled and artificial intelligence-ready referral pathway for community optometry referrals of retinal disease (HERMES): a Cluster Randomised Superiority Trial with a linked Diagnostic Accuracy Study—HERMES study report 1—study protocol

Author

Han, Ji Eun Diana, primary, Liu, Xiaoxuan, additional, Bunce, Catey, additional, Douiri, Abdel, additional, Vale, Luke, additional, Blandford, Ann, additional, Lawrenson, John, additional, Hussain, Rima, additional, Grimaldi, Gabriela, additional, Learoyd, Annastazia E, additional, Kernohan, Ashleigh, additional, Dinah, Christiana, additional, Minos, Evangelos, additional, Sim, Dawn, additional, Aslam, Tariq, additional, Patel, Praveen J, additional, Denniston, Alastair K, additional, Keane, Pearse A, additional, and Balaskas, Konstantinos, additional

Published
2022
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46. Pathway-specific dopaminergic deficits in a mouse model of Angelman syndrome

Author

Riday, Thorfinn T., Dankoski, Elyse C., Krouse, Michael C., Fish, Eric W., Walsh, Paul L., Han, Ji Eun, Hodge, Clyde W., Wightman, R. Mark, Philpot, Benjamin D., and Malanga, C.J.

Subjects
Dopaminergic mechanisms -- Research, Cocaine -- Health aspects, Health care industry
Abstract

Angelman syndrome (AS) is a neurodevelopmental disorder caused by maternal deletions or mutations of the ubiquitin ligase E3A (UBE3A) allele and characterized by minimal verbal communication, seizures, and disorders of voluntary movement. Previous studies have suggested that abnormal dopamine neurotransmission may underlie some of these deficits, but no effective treatment currently exists for the core features of AS. A clinical trial of levodopa (L-DOPA) in AS is ongoing, although the underlying rationale for this treatment strategy has not yet been thoroughly examined in preclinical models. We found that AS model mice lacking maternal Ube3a ([MATHEMATICAL EXPRESSION NOT REPRODUCIBLE IN ASCII] mice) exhibit behavioral deficits that correlated with abnormal dopamine signaling. These deficits were not due to loss of dopaminergic neurons or impaired dopamine synthesis. Unexpectedly, [MATHEMATICAL EXPRESSION NOT REPRODUCIBLE IN ASCII] mice exhibited increased dopamine release in the mesolimbic pathway while also exhibiting a decrease in dopamine release in the nigrostriatal pathway, as measured with fast-scan cyclic voltammetry. These findings demonstrate the complex effects of UBE3A loss on dopamine signaling in subcortical motor pathways that may inform ongoing clinical trials of L-DOPA therapy in patients with AS., Introduction Angelman syndrome (AS) is a neurodevelopmental disorder characterized by intellectual disability, profound language impairment, seizures, and a propensity for a happy disposition (1-3). AS results from loss of function [...]

Published
2012
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