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3. Increasing histone acetylation improves sociability and restores learning and memory in KAT6B-haploinsufficient mice

Author

Bergamasco, Maria I., Vanyai, Hannah K., Garnham, Alexandra L., Geoghegan, Niall D., Vogel, Adam P., Eccles, Samantha, Rogers, Kelly L., Smyth, Gordon K., Blewitt, Marnie E., Hannan, Anthony J., Thomas, Tim, and Voss, Anne K.

Subjects
Brain -- Genetic aspects -- Analysis -- Health aspects, Gene expression -- Genetic aspects -- Analysis -- Health aspects, Carnitine -- Analysis -- Genetic aspects -- Health aspects, Valproic acid -- Analysis -- Health aspects, Divalproex -- Analysis -- Health aspects, Mice -- Analysis -- Health aspects -- Genetic aspects, Cells -- Health aspects -- Analysis -- Genetic aspects, Health care industry
Abstract

Mutations in genes encoding chromatin modifiers are enriched among mutations causing intellectual disability. The continuing development of the brain postnatally, coupled with the inherent reversibility of chromatin modifications, may afford an opportunity for therapeutic intervention following a genetic diagnosis. Development of treatments requires an understanding of protein function and models of the disease. Here, we provide a mouse model of Say-Barber- Biesecker-Young-Simpson syndrome (SBBYSS) (OMIM 603736) and demonstrate proof-of-principle efficacy of postnatal treatment. SBBYSS results from heterozygous mutations in the KAT6B (MYST4/MORF/QFK) gene and is characterized by intellectual disability and autism-like behaviors. Using human cells carrying SBBYSS-specific KAT6B mutations and Kat6b heterozygous mice ([Kat6b.sup.-/-]), we showed that KAT6B deficiency caused a reduction in histone H3 lysine 9 acetylation. Kat6b mice displayed learning, memory, and social deficits, mirroring SBBYSS individuals. Treatment with a histone deacetylase inhibitor, valproic acid, or an acetyl donor, acetyL-carnitine (ALCAR), elevated histone acetylation levels in the human cells with SBBYSS mutations and in brain and blood cells of [Kat6b.sup.-/-] mice and partially reversed gene expression changes in [Kat6b.sup.-/-] cortical neurons. Both compounds improved sociability in Kat6b mice, and ALCAR treatment restored learning and memory. These data suggest that a subset of SBBYSS individuals may benefit from postnatal therapeutic interventions., Introduction Heterozygous mutations in the gene encoding the MYST family histone acetyltransferase, KAT6B, underlie 2 main intellectual disability disorders: the Say-Barber-Biesecker-Young-Simpson variant of Ohdo syndrome (SBBYSS) (OMIM 603736) (1) and [...]

Published
2024
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5. Apoptotic cell death in disease—Current understanding of the NCCD 2023

Author

Vitale, Ilio, Pietrocola, Federico, Guilbaud, Emma, Aaronson, Stuart A., Abrams, John M., Adam, Dieter, Agostini, Massimiliano, Agostinis, Patrizia, Alnemri, Emad S., Altucci, Lucia, Amelio, Ivano, Andrews, David W., Aqeilan, Rami I., Arama, Eli, Baehrecke, Eric H., Balachandran, Siddharth, Bano, Daniele, Barlev, Nickolai A., Bartek, Jiri, Bazan, Nicolas G., Becker, Christoph, Bernassola, Francesca, Bertrand, Mathieu J. M., Bianchi, Marco E., Blagosklonny, Mikhail V., Blander, J. Magarian, Blandino, Giovanni, Blomgren, Klas, Borner, Christoph, Bortner, Carl D., Bove, Pierluigi, Boya, Patricia, Brenner, Catherine, Broz, Petr, Brunner, Thomas, Damgaard, Rune Busk, Calin, George A., Campanella, Michelangelo, Candi, Eleonora, Carbone, Michele, Carmona-Gutierrez, Didac, Cecconi, Francesco, Chan, Francis K. -M., Chen, Guo-Qiang, Chen, Quan, Chen, Youhai H., Cheng, Emily H., Chipuk, Jerry E., Cidlowski, John A., Ciechanover, Aaron, Ciliberto, Gennaro, Conrad, Marcus, Cubillos-Ruiz, Juan R., Czabotar, Peter E., D’Angiolella, Vincenzo, Daugaard, Mads, Dawson, Ted M., Dawson, Valina L., De Maria, Ruggero, De Strooper, Bart, Debatin, Klaus-Michael, Deberardinis, Ralph J., Degterev, Alexei, Del Sal, Giannino, Deshmukh, Mohanish, Di Virgilio, Francesco, Diederich, Marc, Dixon, Scott J., Dynlacht, Brian D., El-Deiry, Wafik S., Elrod, John W., Engeland, Kurt, Fimia, Gian Maria, Galassi, Claudia, Ganini, Carlo, Garcia-Saez, Ana J., Garg, Abhishek D., Garrido, Carmen, Gavathiotis, Evripidis, Gerlic, Motti, Ghosh, Sourav, Green, Douglas R., Greene, Lloyd A., Gronemeyer, Hinrich, Häcker, Georg, Hajnóczky, György, Hardwick, J. Marie, Haupt, Ygal, He, Sudan, Heery, David M., Hengartner, Michael O., Hetz, Claudio, Hildeman, David A., Ichijo, Hidenori, Inoue, Satoshi, Jäättelä, Marja, Janic, Ana, Joseph, Bertrand, Jost, Philipp J., Kanneganti, Thirumala-Devi, Karin, Michael, Kashkar, Hamid, Kaufmann, Thomas, Kelly, Gemma L., Kepp, Oliver, Kimchi, Adi, Kitsis, Richard N., Klionsky, Daniel J., Kluck, Ruth, Krysko, Dmitri V., Kulms, Dagmar, Kumar, Sharad, Lavandero, Sergio, Lavrik, Inna N., Lemasters, John J., Liccardi, Gianmaria, Linkermann, Andreas, Lipton, Stuart A., Lockshin, Richard A., López-Otín, Carlos, Luedde, Tom, MacFarlane, Marion, Madeo, Frank, Malorni, Walter, Manic, Gwenola, Mantovani, Roberto, Marchi, Saverio, Marine, Jean-Christophe, Martin, Seamus J., Martinou, Jean-Claude, Mastroberardino, Pier G., Medema, Jan Paul, Mehlen, Patrick, Meier, Pascal, Melino, Gerry, Melino, Sonia, Miao, Edward A., Moll, Ute M., Muñoz-Pinedo, Cristina, Murphy, Daniel J., Niklison-Chirou, Maria Victoria, Novelli, Flavia, Núñez, Gabriel, Oberst, Andrew, Ofengeim, Dimitry, Opferman, Joseph T., Oren, Moshe, Pagano, Michele, Panaretakis, Theocharis, Pasparakis, Manolis, Penninger, Josef M., Pentimalli, Francesca, Pereira, David M., Pervaiz, Shazib, Peter, Marcus E., Pinton, Paolo, Porta, Giovanni, Prehn, Jochen H. M., Puthalakath, Hamsa, Rabinovich, Gabriel A., Rajalingam, Krishnaraj, Ravichandran, Kodi S., Rehm, Markus, Ricci, Jean-Ehrland, Rizzuto, Rosario, Robinson, Nirmal, Rodrigues, Cecilia M. P., Rotblat, Barak, Rothlin, Carla V., Rubinsztein, David C., Rudel, Thomas, Rufini, Alessandro, Ryan, Kevin M., Sarosiek, Kristopher A., Sawa, Akira, Sayan, Emre, Schroder, Kate, Scorrano, Luca, Sesti, Federico, Shao, Feng, Shi, Yufang, Sica, Giuseppe S., Silke, John, Simon, Hans-Uwe, Sistigu, Antonella, Stephanou, Anastasis, Stockwell, Brent R., Strapazzon, Flavie, Strasser, Andreas, Sun, Liming, Sun, Erwei, Sun, Qiang, Szabadkai, Gyorgy, Tait, Stephen W. G., Tang, Daolin, Tavernarakis, Nektarios, Troy, Carol M., Turk, Boris, Urbano, Nicoletta, Vandenabeele, Peter, Vanden Berghe, Tom, Vander Heiden, Matthew G., Vanderluit, Jacqueline L., Verkhratsky, Alexei, Villunger, Andreas, von Karstedt, Silvia, Voss, Anne K., Vousden, Karen H., Vucic, Domagoj, Vuri, Daniela, Wagner, Erwin F., Walczak, Henning, Wallach, David, Wang, Ruoning, Wang, Ying, Weber, Achim, Wood, Will, Yamazaki, Takahiro, Yang, Huang-Tian, Zakeri, Zahra, Zawacka-Pankau, Joanna E., Zhang, Lin, Zhang, Haibing, Zhivotovsky, Boris, Zhou, Wenzhao, Piacentini, Mauro, Kroemer, Guido, and Galluzzi, Lorenzo

Published
2023
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7. Discovery of a highly potent, selective, orally bioavailable inhibitor of KAT6A/B histone acetyltransferases with efficacy against KAT6A-high ER+ breast cancer

Author

Sharma, Shikhar, Chung, Chi-Yeh, Uryu, Sean, Petrovic, Jelena, Cao, Joan, Rickard, Amanda, Nady, Nataliya, Greasley, Samantha, Johnson, Eric, Brodsky, Oleg, Khan, Showkhin, Wang, Hui, Wang, Zhenxiong, Zhang, Yong, Tsaparikos, Konstantinos, Chen, Lei, Mazurek, Anthony, Lapek, John, Kung, Pei-Pei, Sutton, Scott, Richardson, Paul F., Greenwald, Eric C., Yamazaki, Shinji, Jones, Rhys, Maegley, Karen A., Bingham, Patrick, Lam, Hieu, Stupple, Alexandra E., Kamal, Aileen, Chueh, Anderly, Cuzzupe, Anthony, Morrow, Benjamin J., Ren, Bin, Carrasco-Pozo, Catalina, Tan, Chin Wee, Bhuva, Dharmesh D., Allan, Elizabeth, Surgenor, Elliot, Vaillant, François, Pehlivanoglu, Havva, Falk, Hendrik, Whittle, James R., Newman, Janet, Cursons, Joseph, Doherty, Judy P., White, Karen L., MacPherson, Laura, Devlin, Mark, Dennis, Matthew L., Hattarki, Meghan K., De Silva, Melanie, Camerino, Michelle A., Butler, Miriam S., Dolezal, Olan, Pilling, Patricia, Foitzik, Richard, Stupple, Paul A., Lagiakos, H. Rachel, Walker, Scott R., Hediyeh-Zadeh, Soroor, Nuttall, Stewart, Spall, Sukhdeep K., Charman, Susan A., Connor, Theresa, Peat, Thomas S., Avery, Vicky M., Bozikis, Ylva E., Yang, Yuqing, Zhang, Ming, Monahan, Brendon J., Voss, Anne K., Thomas, Tim, Street, Ian P., Dawson, Sarah-Jane, Dawson, Mark A., Lindeman, Geoffrey J., Davis, Melissa J., Visvader, Jane E., and Paul, Thomas A.

Published
2023
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9. Mutations that prevent caspase cleavage of RIPK1 cause autoinflammatory disease

Author

Lalaoui, Najoua, Boyden, Steven E, Oda, Hirotsugu, Wood, Geryl M, Stone, Deborah L, Chau, Diep, Liu, Lin, Stoffels, Monique, Kratina, Tobias, Lawlor, Kate E, Zaal, Kristien JM, Hoffmann, Patrycja M, Etemadi, Nima, Shield-Artin, Kristy, Biben, Christine, Tsai, Wanxia Li, Blake, Mary D, Kuehn, Hye Sun, Yang, Dan, Anderton, Holly, Silke, Natasha, Wachsmuth, Laurens, Zheng, Lixin, Moura, Natalia Sampaio, Beck, David B, Gutierrez-Cruz, Gustavo, Ombrello, Amanda K, Pinto-Patarroyo, Gineth P, Kueh, Andrew J, Herold, Marco J, Hall, Cathrine, Wang, Hongying, Chae, Jae Jin, Dmitrieva, Natalia I, McKenzie, Mark, Light, Amanda, Barham, Beverly K, Jones, Anne, Romeo, Tina M, Zhou, Qing, Aksentijevich, Ivona, Mullikin, James C, Gross, Andrew J, Shum, Anthony K, Hawkins, Edwin D, Masters, Seth L, Lenardo, Michael J, Boehm, Manfred, Rosenzweig, Sergio D, Pasparakis, Manolis, Voss, Anne K, Gadina, Massimo, Kastner, Daniel L, and Silke, John

Subjects
Biochemistry and Cell Biology, Biomedical and Clinical Sciences, Biological Sciences, Biodefense, Prevention, Rare Diseases, Vaccine Related, 1.1 Normal biological development and functioning, Underpinning research, Aetiology, 2.1 Biological and endogenous factors, Inflammatory and immune system, Animals, Caspase 3, Caspase 8, Female, Hereditary Autoinflammatory Diseases, Humans, MAP Kinase Kinase Kinases, Male, Mice, Mice, Inbred C57BL, Mice, Knockout, Mutation, Pedigree, Receptor-Interacting Protein Serine-Threonine Kinases, General Science & Technology
Abstract

RIPK1 is a key regulator of innate immune signalling pathways. To ensure an optimal inflammatory response, RIPK1 is regulated post-translationally by well-characterized ubiquitylation and phosphorylation events, as well as by caspase-8-mediated cleavage1-7. The physiological relevance of this cleavage event remains unclear, although it is thought to inhibit activation of RIPK3 and necroptosis8. Here we show that the heterozygous missense mutations D324N, D324H and D324Y prevent caspase cleavage of RIPK1 in humans and result in an early-onset periodic fever syndrome and severe intermittent lymphadenopathy-a condition we term 'cleavage-resistant RIPK1-induced autoinflammatory syndrome'. To define the mechanism for this disease, we generated a cleavage-resistant Ripk1D325A mutant mouse strain. Whereas Ripk1-/- mice died postnatally from systemic inflammation, Ripk1D325A/D325A mice died during embryogenesis. Embryonic lethality was completely prevented by the combined loss of Casp8 and Ripk3, but not by loss of Ripk3 or Mlkl alone. Loss of RIPK1 kinase activity also prevented Ripk1D325A/D325A embryonic lethality, although the mice died before weaning from multi-organ inflammation in a RIPK3-dependent manner. Consistently, Ripk1D325A/D325A and Ripk1D325A/+ cells were hypersensitive to RIPK3-dependent TNF-induced apoptosis and necroptosis. Heterozygous Ripk1D325A/+ mice were viable and grossly normal, but were hyper-responsive to inflammatory stimuli in vivo. Our results demonstrate the importance of caspase-mediated RIPK1 cleavage during embryonic development and show that caspase cleavage of RIPK1 not only inhibits necroptosis but also maintains inflammatory homeostasis throughout life.

Published
2020

10. A new satellite-based global climatology of dust aerosol optical depth A new satellite-based global climatology of dust aerosol optical depth

Author

Voss, Kara K and Evan, Amato T

Subjects
Climate Action, Atmospheric Sciences, Environmental Science and Management, Agriculture, Land and Farm Management, Meteorology & Atmospheric Sciences
Abstract

By mass, dust is the largest contributor to global aerosol burden, yet long-term observational records of dust, particularly over the ocean, are limited. Here, two nearly global observational datasets of dust aerosol optical depth τd are created primarily on the basis of optical measurements of the aerosol column from 1) the Moderate Resolution Imaging Spectroradiometer (MODIS) aboard the Terra satellite spanning from 2001 to 2018 and 2) the Advanced Very High Resolution Radiometer (AVHRR) from 1981 to 2018. The quality of the new data is assessed by comparison with existing dust datasets that are spatially more limited. Between 2001 and 2018, τd decreased over Asia and increased significantly over the Sahara, Middle East, and parts of eastern Europe, with the largest increase found over the Aral Sea where emissive playa surfaces have been exposed. These daily, observational, and nearly global records of dust will allow for improvement in understanding the role of dust in climate variability.

Published
2020

13. Loss of PHF6 causes spontaneous seizures, enlarged brain ventricles and altered transcription in the cortex of a mouse model of the Börjeson–Forssman–Lehmann intellectual disability syndrome.

Author

McRae, Helen M., Leong, Melody P. Y., Bergamasco, Maria I., Garnham, Alexandra L., Hu, Yifang, Corbett, Mark A., Whitehead, Lachlan, El-Saafin, Farrah, Sheikh, Bilal N., Wilcox, Stephen, Hannan, Anthony J., Gécz, Jozef, Smyth, Gordon K., Thomas, Tim, and Voss, Anne K.

Subjects
TRANSCRIPTION factors, CEREBRAL ventricles, PLANT mutation, ATTENTION-deficit hyperactivity disorder, NERVOUS system
Abstract

Börjeson-Forssman-Lehmann syndrome (BFLS) is an X-linked intellectual disability and endocrine disorder caused by pathogenic variants of plant homeodomain finger gene 6 (PHF6). An understanding of the role of PHF6 in vivo in the development of the mammalian nervous system is required to advance our knowledge of how PHF6 mutations cause BFLS. Here, we show that PHF6 protein levels are greatly reduced in cells derived from a subset of patients with BFLS. We report the phenotypic, anatomical, cellular and molecular characterization of the brain in males and females in two mouse models of BFLS, namely loss of Phf6 in the germline and nervous system-specific deletion of Phf6. We show that loss of PHF6 resulted in spontaneous seizures occurring via a neural intrinsic mechanism. Histological and morphological analysis revealed a significant enlargement of the lateral ventricles in adult Phf6-deficient mice, while other brain structures and cortical lamination were normal. Phf6 deficient neural precursor cells showed a reduced capacity for self-renewal and increased differentiation into neurons. Phf6 deficient cortical neurons commenced spontaneous neuronal activity prematurely suggesting precocious neuronal maturation. We show that loss of PHF6 in the foetal cortex and isolated cortical neurons predominantly caused upregulation of genes, including Reln, Nr4a2, Slc12a5, Phip and ZIC family transcription factor genes, involved in neural development and function, providing insight into the molecular effects of loss of PHF6 in the developing brain. Author summary: The Börjeson-Forssman-Lehmann Syndrome (BFLS) is an intellectual disability and endocrine disorder. Mutations in the plant homeodomain finger 6 gene (PHF6) cause the disorder. We show here that a subset of BFLS patients lack PHF6 and report the effects of loss of PHF6 in an animal model with complete loss of PHF6 from conception. The cerebral cortex is the site of higher brain functions, including cognition and decision-making. We report here the effects of lack of PHF6 on the developing brain, cerebral cortex and neuronal cells isolated from this structure. Since PHF6 associates with the genetic material in the cell nucleus and has been proposed to regulate gene activity, we also report the effects of lack of PHF6 on gene expression in the cerebral cortex and purified neuronal cells. We observed that loss of PHF6 results in the dysregulation of neuronal development and differentiation genes, including genes involved in disorders such as Parkinson's disease, epilepsy, neuroblastoma, attention deficit disorder, autism and schizophrenia. Lastly, we report that mice lacking PHF6 mirror BFLS patients in that they also suffer from spontaneous epileptic seizures. Our mouse models and findings will be useful to further investigate BFLS neuronal function and other aspects of the disorder in the adult. [ABSTRACT FROM AUTHOR]

Published
2024
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15. Doppler Ultrasound-Visible SignalMark Microspheres are Better Identified than HydroMARK® Clips in a Simulated Intraoperative Setting in Breast and Lung Tissue

Author

Voss, Rachel K, Ward, Erin P, Ojeda-Fournier, Haydee, and Blair, Sarah L

Subjects
Biomedical and Clinical Sciences, Oncology and Carcinogenesis, Cancer, Breast Cancer, Lung, Biomedical Imaging, 4.1 Discovery and preclinical testing of markers and technologies, Detection, screening and diagnosis, Animals, Biopsy, Fine-Needle, Female, Hydrogels, Intraoperative Period, Mammary Glands, Animal, Microspheres, Swine, Ultrasonography, Doppler, Ultrasonography, Mammary, Oncology & Carcinogenesis, Oncology and carcinogenesis
Abstract

BackgroundPreoperative breast and lung markers have significant drawbacks, including migration, patient discomfort, and scheduling difficulties. SignalMark is a novel localizer device with a unique signal on Doppler ultrasound.ObjectiveWe aimed to evaluate intraoperative identification of SignalMark microspheres compared with HydroMARK® clips. We also assessed the safety and efficacy of SignalMark in the lung.MethodsTwelve breasts of lactating pigs were injected with SignalMark or HydroMARK® by a breast radiologist, and subsequently identified using a standard ultrasound machine by three surgeons blinded to marker location. Time to identification of each marker was recorded, with a maximum allotted time of 300 s. To further demonstrate efficacy in lung parenchyma, a second cohort of pigs underwent lung injections.ResultsA total of eight SignalMark markers and four HydroMARK® clips were placed in pig breasts. Overall, the surgeons correctly identified SignalMark 95.8% of the time (n = 23/24) and HydroMARK® clips 41.7% of the time (n = 5/12) within 300 s (p

Published
2018

16. Clinical evolution, genetic landscape and trajectories of clonal hematopoiesis in SAMD9/SAMD9L syndromes

Author

Sahoo, Sushree S., Pastor, Victor B., Goodings, Charnise, Voss, Rebecca K., Kozyra, Emilia J., Szvetnik, Amina, and Noellke, Peter

Subjects
Gene mutations -- Analysis, Cell death -- Observations -- Health aspects, Hematopoiesis -- Analysis, Myelodysplastic syndromes -- Diagnosis -- Care and treatment -- Development and progression, Biological sciences, Health
Abstract

Germline SAMD9 and SAMD9L mutations (SAMD9/9L.sup.mut) predispose to myelodysplastic syndromes (MDS) with propensity for somatic rescue. In this study, we investigated a clinically annotated pediatric MDS cohort (n = 669) to define the prevalence, genetic landscape, phenotype, therapy outcome and clonal architecture of SAMD9/9L syndromes. In consecutively diagnosed MDS, germline SAMD9/9L.sup.mut accounted for 8% and were mutually exclusive with GATA2 mutations present in 7% of the cohort. Among SAMD9/9L.sup.mut cases, refractory cytopenia was the most prevalent MDS subtype (90%); acquired monosomy 7 was present in 38%; constitutional abnormalities were noted in 57%; and immune dysfunction was present in 28%. The clinical outcome was independent of germline mutations. In total, 67 patients had 58 distinct germline SAMD9/9L.sup.mut clustering to protein middle regions. Despite inconclusive in silico prediction, 94% of SAMD9/9L.sup.mut suppressed HEK293 cell growth, and mutations expressed in CD34.sup.+ cells induced overt cell death. Furthermore, we found that 61% of SAMD9/9L.sup.mut patients underwent somatic genetic rescue (SGR) resulting in clonal hematopoiesis, of which 95% was maladaptive (monosomy 7 [plus or minus] cancer mutations), and 51% had adaptive nature (revertant UPD7q, somatic SAMD9/9L.sup.mut). Finally, bone marrow single-cell DNA sequencing revealed multiple competing SGR events in individual patients. Our findings demonstrate that SGR is common in SAMD9/9L.sup.mut MDS and exemplify the exceptional plasticity of hematopoiesis in children. This analysis of a large, clinically annotated cohort of individuals with predisposition to myelodysplastic syndromes reveals insights into the genetic determinants of disease progression and their relationship with clinical manifestations and therapy outcome., Author(s): Sushree S. Sahoo [sup.1] [sup.2] , Victor B. Pastor [sup.2] , Charnise Goodings [sup.1] , Rebecca K. Voss [sup.2] , Emilia J. Kozyra [sup.2] [sup.3] , Amina Szvetnik [sup.2] [...]

Published
2021
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20. Non‐Islet Cell Tumor Hypoglycemia Secondary to a 20 cm Intra‐Abdominal Leiomyoma in a Male Patient: A Case Report and Literature Review.

Author

Lippincott, Michelle D., McDonald, James D., Bui, Marilyn M., Gonzalez, Ricardo J., Voss, Rachel K., and De Nardi, Paola

Subjects
LITERATURE reviews, CELL tumors, UTERINE fibroids, ENGLISH literature, HYPOGLYCEMIA
Abstract

Non‐islet cell tumor hypoglycemia (NICTH) is a rare clinical entity associated with large mesenchymal tumors. Its pathogenesis is most commonly mediated by tumor overproduction of "big" insulin‐like growth factor‐2. Here, we present a 54‐year‐old male who presented with noninsulin‐mediated hypoglycemia and a 20 cm intra‐abdominal leiomyoma. His hypoglycemic episodes resolved after the resection of his tumor. To our knowledge, this is the only documented case in the English literature of NICTH associated with leiomyoma in a male patient. NICTH due to a benign leiomyoma should be in the differential diagnosis for any patient with hypoglycemia and an abdominal mass. [ABSTRACT FROM AUTHOR]

Published
2024
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23. Genome-wide CRISPR screening identifies a role for ARRDC3 in TRP53-mediated responses

Author

La Marca, John E., primary, Aubrey, Brandon J., additional, Yang, Bruce, additional, Chang, Catherine, additional, Wang, Zilu, additional, Kueh, Andrew, additional, Tai, Lin, additional, Wilcox, Stephen, additional, Milla, Liz, additional, Heinzel, Susanne, additional, Vremec, David, additional, Whelan, Lauren, additional, König, Christina, additional, Kaloni, Deeksha, additional, Voss, Anne K., additional, Strasser, Andreas, additional, Diepstraten, Sarah T., additional, Herold, Marco J., additional, and Kelly, Gemma L., additional

Published
2023
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24. Apoptotic cell death in disease—Current understanding of the NCCD 2023

Author

Associazione Italiana per la Ricerca sul Cancro, Italian Institute for Genomic Medicine, Compagnia di San Paolo, Vitale, Ilio [0000-0002-5918-1841], Pietrocola, Federico [0000-0002-2930-234X], Guilbaud, Emma [0000-0001-5261-1944], Aaronson, Stuart A. [0000-0002-4643-0474], Dieter, Adam [0000-0002-5668-5032], Agostini, Massimiliano [0000-0003-3124-2072], Agostinis, Patrizia [0000-0003-1314-2115], Alnemri, Emad S. [0000-0002-7295-3383], Altucci, Lucia [0000-0002-7312-5387], Amelio, Ivano [0000-0002-9126-5391], Andrews, David W. [0000-0002-9266-7157], Aqeilan, Rami I. [0000-0002-6034-023X], Arama, Eli [0000-0001-5953-0629], Balachandran, Siddharth [0000-0003-2084-1803], Bano, Daniele [0000-0002-9617-5504], Bartek, Jiri [0000-0003-2013-7525], Bazan, Nicolas G. [0000-0002-9243-5444], Bernassola, Francesca [0000-0002-8883-8654], Bertrand, Mathieu J. M. [0000-0001-9000-0626], Bianchi, Marco Emilio [0000-0002-5329-6445], Blander, J. Magarian [0000-0001-9207-1700], Blandino, Giovanni [0000-0002-6970-2241], Blomgren, Klas [0000-0002-0476-7271], Bortner, Carl D. [0000-0002-5444-6628], Bove, Pierluigi [0000-0002-4788-2982], Boya, Patricia [0000-0003-3045-951X], Broz, Petr [0000-0002-2334-7790], Damgaard, Rune Busk [0000-0002-1709-6534], Calin, George A. [0000-0002-7427-0578], Campanella, Michelangelo [0000-0002-6948-4184], Candi, Eleonora [0000-0001-8332-4825], Carbone, Michele [0000-0001-8928-8474], Carmona-Gutierrez, Didac [0000-0001-7548-7771], Cecconi, Francesco [0000-0002-5614-4359], Chen, Guo‑Qiang [0000-0002-7226-1782], Cheng, Emily H. [0000-0002-3595-2648], Chipuk, Jerry E. [0000-0002-1337-842X], Cidlowski, John A. [0000-0003-1420-0516], Ciechanover, Aaron [0000-0001-9184-8944], Ciliberto, Gennaro [0000-0003-2851-8605], Conrad, Marcus [0000-0003-1140-5612], Czabotar, Peter E. [0000-0002-2594-496X], D’Angiolella, Vincenzo [0000-0001-8365-9094], Daugaard, Mads [0000-0001-8383-055X], Dawson, Valina L. [0000-0002-2915-3970], De Maria, Ruggero [0000-0003-2255-0583], Debatin, Klaus-Michael [0000-0002-8397-1886], Deberardinis, Ralph J. [0000-0002-2705-7432], Degterev, Alexei [0000-0002-8240-7132], Del Sal, Giannino [0000-0003-2185-6003], Deshmukh, Mohanish [0000-0002-2597-5862], Di Virgilio, Francesco [0000-0003-3566-1362], Diederich, Marc [0000-0003-0115-4725], Dixon, Scott J. [0000-0001-6230-8199], El-Deiry, Wafik S. [0000-0002-9577-8266], Elrod, John W. [0000-0003-3925-2224], Engeland, Kurt [0000-0003-3525-0440], Fimia, Gian María [0000-0003-4438-3325], Ganini, Carlo [0000-0002-5839-3965], García-Sáez, Ana J. [0000-0002-3894-5945], Garg, Abhishek D. [0000-0002-9976-9922], Garrido, Carmen [0000-0003-1368-1493], Gavathiotis, Evripidis [0000-0001-6319-8331], Ghosh, Sourav [0000-0001-5990-8708], Green, Douglas R. [0000-0002-7332-1417], Gronemeyer, Hinrich [0000-0001-9454-2449}, Häcker, Georg [0000-0003-1058-5746], Hajnóczky, György [0000-0003-3813-2570], Hardwick, J. Marie [0000-0002-4847-2045], Haupt, Ygal [0000-0001-5925-0096], He, Sudan [0000-0002-0846-1210], Heery, David M. [0000-0002-5035-2392], Hengartner, Michael O. [0000-0002-7584-596X], Hetz, Claudio [0000-0003-1120-7966], Hildeman, David A. [0000-0002-0421-8483], Ichijo, Hidenori [0000-0002-5005-6438], Jäättelä, Marja [0000-0001-5950-7111], Janic, Ana [0000-0002-4200-2560], Joseph, Bertrand [0000-0001-5655-9979], Jost, Philipp J. [0000-0003-2454-0362], Kanneganti, Thirumala-Devi [0000-0002-6395-6443], Karin, Michael [0000-0002-2758-6473], Kashkar, Hamid [0000-0003-2796-1429], Kaufmann, Thomas [0000-0001-9906-874X], Kelly, Gemma L. [0000-0002-6533-1201], Kepp, Oliver [0000-0002-6081-9558], Kimchi, Adi [0000-0002-8236-8989], Klionsky, Daniel J. [0000-0002-7828-8118], Kluck, Ruth [0000-0002-7101-1925], Krysko, Dmitri V. [0000-0002-9692-2047], Kulms, Dagmar [0000-0001-6874-0548], Kumar, Sharad [0000-0001-7126-9814], Lavandero, Sergio [0000-0003-4258-1483], Lavrik, Inna N. 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[0000-0001-7872-0196], Walczak, Henning [0000-0002-6312-4591], Wallach, David [0000-0003-2724-9757], Wang, Ruoning [0000-0001-9798-8032], Weber, Achim [0000-0003-0073-3637], Yamazaki, Takahiro [0000-0002-7420-4394], Zakeri, Zahra [0000-0003-4386-8072], Zawacka-Pankau, Joanna E. [0000-0002-7415-2942], Zhivotovsky, Boris [0000-0002-2238-3482], Piacentini, Mauro [0000-0003-2919-1296], Kroemer, Guido [0000-0002-9334-4405], Galluzzi, Lorenzo [0000-0003-2257-8500 ], Vitale, Ilio, Pietrocola, Federico, Guilbaud, Emma, Aaronson, Stuart A., Abrams, John M., Dieter, Adam, Agostini, Massimiliano, Agostinis, Patrizia, Alnemri, Emad S., Altucci, Lucia, Amelio, Ivano, Andrews, David W., Aqeilan, Rami I., Arama, Eli, Baehrecke, Eric H., Balachandran, Siddharth, Bano, Daniele, Barlev, Nickolai A., Bartek, Jiri, Bazan, Nicolas G., Becker, Christoph, Bernassola, Francesca, Bertrand, Mathieu J. M., Bianchi, Marco Emilio, Blagosklonny, Mikhail V., Blander, J. Magarian, Blandino, Giovanni, Blomgren, Klas, Bomer, Christoph, Bortner, Carl D., Bove, Pierluigi, Boya, Patricia, Brenner, Catherine, Broz, Petr, Brunner, T., Damgaard, Rune Busk, Calin, George A., Campanella, Michelangelo, Candi, Eleonora, Carbone, Michele, Carmona-Gutierrez, Didac, Cecconi, Francesco, Chan, Francis K.-M., Chen, Guo‑Qiang, Chen, Quan, Chen, Youhai H., Cheng, Emily H., Chipuk, Jerry E., Cidlowski, John A., Ciechanover, Aaron, Ciliberto, Gennaro, Conrad, Marcus, Cubillos-Ruiz, Juan R., Czabotar, Peter E., D’Angiolella, Vincenzo, Daugaard, Mads, Dawson, Ted M., Dawson, Valina L., De Maria, Ruggero, De Strooper, B., Debatin, Klaus-Michael, Deberardinis, Ralph J., Degterev, Alexei, Del Sal, Giannino, Deshmukh, Mohanish, Di Virgilio, Francesco, Diederich, Marc, Dixon, Scott J., Dynlacht, Brian D., El-Deiry, Wafik S., Elrod, John W., Engeland, Kurt, Fimia, Gian María, Galassi, Claudia, Ganini, Carlo, García-Sáez, Ana J., Garg, Abhishek D., Garrido, Carmen, Gavathiotis, Evripidis, Gerlic, Motti, Ghosh, Sourav, Green, Douglas R., Greene, Lloyd A., Gronemeyer, Hinrich, Häcker, Georg, Hajnóczky, György, Hardwick, J. Marie, Haupt, Ygal, He, Sudan, Heery, David M., Hengartner, Michael O., Hetz, Claudio, Hildeman, David A., Ichijo, Hidenori, Inoue, Satoshi, Jäättelä, Marja, Janic, Ana, Joseph, Bertrand, Jost, Philipp J., Kanneganti, Thirumala-Devi, Karin, Michael, Kashkar, Hamid, Kaufmann, Thomas, Kelly, Gemma L., Kepp, Oliver, Kimchi, Adi, Kitsis, Richard N., Klionsky, Daniel J., Kluck, Ruth, Krysko, Dmitri V., Kulms, Dagmar, Kumar, Sharad, Lavandero, Sergio, Lavrik, Inna N., Lemasters, John J., Liccardi, Gianmaria, Linkermann, Andreas, Lipton, Stuart A., Lockshin, Richard A., López-Otín, Carlos, Luedde, Tom, MacFarlane, Marion, Madeo, Frank, Malorni, Walter, Manic, Gwenola, Mantovani, Roberto, Marchi, Saverio, Marine, Jean-Christophe, Martin, Seamus J., Martinou, Jean-Claude, Mastroberardino, Pier G., Medema, Jan Paul, Mehlen, Patrick, Meier, Pascal, Melino, Gerry, Melino, Sonia, Miao, Edward A., Moll, Ute M., Muñoz-Pinedo, Cristina, Murphy, Daniel J., Niklison-Chirou, Maria Victoria, Novelli, Flavia, Núñez, Gabriel, Oberst, Andrew, Ofengeim, Dimitry, Opferman, Joseph T., Oren, Moshe, Pagano, Michele, Panaretakis, Theocharis, Pasparakis, Manolis, Penninger, Josef M., Pentimalli, Francesca, Pereira, David M., Pervaiz, Shazib, Peter, Marcus E., Pinton, Paolo, Porta, Giovanni, Prehn, Jochen H. M., Puthalakath, Hamsa, Rabinovich, Gabriel A., Rajalingam, Krishnaraj, Ravinchandran, Kodi S., Rehm, Markus, Ricci, Jean-Ehrland, Rizzuto, Rosario, Robinson, Nirmal, Rodrigues, Cecilia M. P., Rotblat, Barak, Rothlin, Carla V., Rubinsztein, David C., Rudel, Thomas, Rufini, Alessandro, Ryan, Kevin M., Sarosiek, Kristopher A., Sawa, Akira, Sayan, Emre, Schroder, Kate, Scorrano, Luca, Sesti, Federico, Shao, Feng, Shi, Yufang, Sica, Giuseppe, Silke, John, Simon, Hans-Uwe, Sistigu, Antonella, Stephanou, Anastasis, Stockwell, Brent R., Strappazzon, Flavie, Strasser, Andreas, Sun, Liming, Sun, Erwei, Sun, Qiang, Szabadkai, G, Tait, Stephen W. G., Tang, Daolin, Tavernarakis, Nektarios, Troy, Carol M., Turk, Boris, Urbano, Nicoletta, Vandenabeele, Peter, Vanden Berghe, Tom, Vander Heiden, Matthew G., Vanderluit, Jacqueline L., Verkhratsky, A., Villunger, Andreas, Von Karstedt, Silvia, Voss, Anne K., Vousden, Karen H., Vucic, Domagoj, Vuri, Daniela, Wagner, Erwin F., Walczak, Henning, Wallach, David, Wang, Ruoning, Wang, Ying, Weber, Achim, Wood, Will, Yamazaki, Takahiro, Yang, Zahra, Zakeri, Zahra, Zawacka-Pankau, Joanna E., Zhang, Lin, Zhang, Haibin, Zhivotovsky, Boris, Zhou, Wenzhao, Piacentini, Mauro, Kroemer, Guido, and Galluzzi, Lorenzo

Abstract

Apoptosis is a form of regulated cell death (RCD) that involves proteases of the caspase family. Pharmacological and genetic strategies that experimentally inhibit or delay apoptosis in mammalian systems have elucidated the key contribution of this process not only to (post-)embryonic development and adult tissue homeostasis, but also to the etiology of multiple human disorders. Consistent with this notion, while defects in the molecular machinery for apoptotic cell death impair organismal development and promote oncogenesis, the unwarranted activation of apoptosis promotes cell loss and tissue damage in the context of various neurological, cardiovascular, renal, hepatic, infectious, neoplastic and inflammatory conditions. Here, the Nomenclature Committee on Cell Death (NCCD) gathered to critically summarize an abundant pre-clinical literature mechanistically linking the core apoptotic apparatus to organismal homeostasis in the context of disease.

Published
2023

25. HBO1 is required for the maintenance of leukaemia stem cells

Author

MacPherson, Laura, Anokye, Juliana, Yeung, Miriam M., Lam, Enid Y. N., Chan, Yih-Chih, Weng, Chen-Fang, Yeh, Paul, Knezevic, Kathy, Butler, Miriam S., Hoegl, Annabelle, Chan, Kah-Lok, Burr, Marian L., Gearing, Linden J., Willson, Tracy, Liu, Joy, Choi, Jarny, Yang, Yuqing, Bilardi, Rebecca A., Falk, Hendrik, Nguyen, Nghi, Stupple, Paul A., Peat, Thomas S., Zhang, Ming, de Silva, Melanie, Carrasco-Pozo, Catalina, Avery, Vicky M., Khoo, Poh Sim, Dolezal, Olan, Dennis, Matthew L., Nuttall, Stewart, Surjadi, Regina, Newman, Janet, Ren, Bin, Leaver, David J., Sun, Yuxin, Baell, Jonathan B., Dovey, Oliver, Vassiliou, George S., Grebien, Florian, Dawson, Sarah-Jane, Street, Ian P., Monahan, Brendon J., Burns, Christopher J., Choudhary, Chunaram, Blewitt, Marnie E., Voss, Anne K., Thomas, Tim, and Dawson, Mark A.

Published
2020
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27. PHF6 regulates hematopoietic stem and progenitor cells and its loss synergizes with expression of TLX3 to cause leukemia

Author

McRae, Helen M., Garnham, Alexandra L., Hu, Yifang, Witkowski, Matthew T., Corbett, Mark A., Dixon, Mathew P., May, Rose E., Sheikh, Bilal N., Chiang, William, Kueh, Andrew J., Nguyen, Tan A., Man, Kevin, Gloury, Renee, Aubrey, Brandon J., Policheni, Antonia, Di Rago, Ladina, Alexander, Warren S., Gray, Daniel H.D., Strasser, Andreas, Hawkins, Edwin D., Wilcox, Stephen, Gécz, Jozef, Kallies, Axel, McCormack, Matthew P., Smyth, Gordon K., Voss, Anne K., and Thomas, Tim

Published
2019
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28. ING4 and ING5 are essential for histone H3 lysine 14 acetylation and epicardial cell lineage development.

Author

Mah, Sophia Y. Y., Vanyai, Hannah K., Li-Wai-Suen, Connie S. N., Garnham, Alexandra L., Wynn, Jessica, Bergamasco, Maria I., Malelang, Shezlie, Wilcox, Stephen, Biben, Christine, Smyth, Gordon K., Thomas, Tim, and Voss, Anne K.

Subjects
VENTRICULAR septal defects, ACETYLATION, LYSINE, HISTONE acetyltransferase, EMBRYOLOGY
Abstract

Inhibitor of growth 4 and 5 (ING4, ING5) are structurally similar chromatin-binding proteins in the KAT6A, KAT6B and KAT7 histone acetyltransferase protein complexes. Heterozygous mutations in the KAT6A or KAT6B gene cause human disorders with cardiac defects, but the contribution of their chromatin-adaptor proteins to development is unknown. We found that Ing5−/− mice had isolated cardiac ventricular septal defects. Ing4−/−Ing5−/− embryos failed to undergo chorioallantoic fusion and arrested in development at embryonic day 8.5, displaying loss of histone H3 lysine 14 acetylation, reduction in H3 lysine 23 acetylation levels and reduced developmental gene expression. Embryonic day 12.5 Ing4+/−Ing5−/− hearts showed a paucity of epicardial cells and epicardium-derived cells, failure of myocardium compaction, and coronary vasculature defects, accompanied by reduced expression of epicardium genes. Cell adhesion gene expression and proepicardium outgrowth were defective in the ING4- and ING5-deficient state. Our findings suggest that ING4 and ING5 are essential for heart development and promote epicardium and epicardium-derived cell fates and imply mutation of the human ING5 gene as a possible cause of isolated ventricular septal defects. [ABSTRACT FROM AUTHOR]

Published
2024
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30. Publisher Correction: Clinical evolution, genetic landscape and trajectories of clonal hematopoiesis in SAMD9/SAMD9L syndromes

Author

Sahoo, Sushree S., Pastor, Victor B., Goodings, Charnise, Voss, Rebecca K., Kozyra, Emilia J., Szvetnik, Amina, Noellke, Peter, Dworzak, Michael, Starý, Jan, Locatelli, Franco, Masetti, Riccardo, Schmugge, Markus, De Moerloose, Barbara, Catala, Albert, Kállay, Krisztián, Turkiewicz, Dominik, Hasle, Henrik, Buechner, Jochen, Jahnukainen, Kirsi, Ussowicz, Marek, Polychronopoulou, Sophia, Smith, Owen P., Fabri, Oksana, Barzilai, Shlomit, de Haas, Valerie, Baumann, Irith, Schwarz-Furlan, Stephan, Niewisch, Marena R., Sauer, Martin G., Burkhardt, Birgit, Lang, Peter, Bader, Peter, Beier, Rita, Müller, Ingo, Albert, Michael H., Meisel, Roland, Schulz, Ansgar, Cario, Gunnar, Panda, Pritam K., Wehrle, Julius, Hirabayashi, Shinsuke, Derecka, Marta, Durruthy-Durruthy, Robert, Göhring, Gudrun, Yoshimi-Noellke, Ayami, Ku, Manching, Lebrecht, Dirk, Erlacher, Miriam, Flotho, Christian, Strahm, Brigitte, Niemeyer, Charlotte M., and Wlodarski, Marcin W.

Published
2021
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31. Development of Hydrocephalus in Mice Lacking SOCS7

Author

Krebs, Danielle L., Metcalf, Donald, Merson, Tobias D., Voss, Anne K., Thomas, Tim, Zhang, Jian-Guo, Rakar, Steven, O'Bryan, Moira K., Wilson, Tracy A., Viney, Elizabeth M., Mielke, Lisa A., Nicola, Nicos A., Hilton, Douglas J., and Alexander, Warren S.

Published
2004

32. Inhibitors of histone acetyltransferases KAT6A/B induce senescence and arrest tumour growth

Author

Baell, Jonathan B., Leaver, David J., Hermans, Stefan J., Kelly, Gemma L., Brennan, Margs S., Downer, Natalie L., Nguyen, Nghi, Wichmann, Johannes, McRae, Helen M., Yang, Yuqing, Cleary, Ben, Lagiakos, H. Rachel, Mieruszynski, Stephen, Pacini, Guido, Vanyai, Hannah K., Bergamasco, Maria I., May, Rose E., Davey, Bethany K., Morgan, Kimberly J., Sealey, Andrew J., Wang, Beinan, Zamudio, Natasha, Wilcox, Stephen, Garnham, Alexandra L., Sheikh, Bilal N., Aubrey, Brandon J., Doggett, Karen, Chung, Matthew C., de Silva, Melanie, Bentley, John, Pilling, Pat, Hattarki, Meghan, Dolezal, Olan, Dennis, Matthew L., Falk, Hendrik, Ren, Bin, Charman, Susan A., White, Karen L., Rautela, Jai, Newbold, Andrea, Hawkins, Edwin D., Johnstone, Ricky W., Huntington, Nicholas D., Peat, Thomas S., Heath, Joan K., Strasser, Andreas, Parker, Michael W., Smyth, Gordon K., Street, Ian P., Monahan, Brendon J., Voss, Anne K., and Thomas, Tim

Published
2018
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35. Histone H3K23-specific acetylation by MORF is coupled to H3K14 acylation

Author

Klein, Brianna J., Jang, Suk Min, Lachance, Catherine, Mi, Wenyi, Lyu, Jie, Sakuraba, Shun, Krajewski, Krzysztof, Wang, Wesley W., Sidoli, Simone, Liu, Jiuyang, Zhang, Yi, Wang, Xiaolu, Warfield, Becka M., Kueh, Andrew J., Voss, Anne K., Thomas, Tim, Garcia, Benjamin A., Liu, Wenshe R., Strahl, Brian D., Kono, Hidetoshi, Li, Wei, Shi, Xiaobing, Côté, Jacques, and Kutateladze, Tatiana G.

Published
2019
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40. Subunit composition of VRAC channels determines substrate specificity and cellular resistance to Pt‐based anti‐cancer drugs

Author

Planells‐Cases, Rosa, Lutter, Darius, Guyader, Charlotte, Gerhards, Nora M, Ullrich, Florian, Elger, Deborah A, Kucukosmanoglu, Asli, Xu, Guotai, Voss, Felizia K, Reincke, S Momsen, Stauber, Tobias, Blomen, Vincent A, Vis, Daniel J, Wessels, Lodewyk F, Brummelkamp, Thijn R, Borst, Piet, Rottenberg, Sven, and Jentsch, Thomas J

Published
2015
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42. Cortical Layer Inversion and Deregulation of Reelin Signaling in the Absence of SOCS6 and SOCS7

Author

Lawrenson, Isobel D., Krebs, Danielle L., Linossi, Edmond M., Zhang, Jian-Guo, McLennan, Tamara J., Collin, Caitlin, McRae, Helen M., Kolesnik, Tatiana B., Koh, Katrina, Britto, Joanne M., Kueh, Andrew J., Sheikh, Bilal N., El-Saafin, Farrah, Nicola, Nicos A., Tan, Seong-Seng, Babon, Jeffrey J., Nicholson, Sandra E., Alexander, Warren S., Thomas, Tim, and Voss, Anne K.

Published
2017
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45. Correction: The histone acetyltransferase HBO1 promotes efficient tip cell sprouting during angiogenesis

Author

Grant, Zoe L., primary, Hickey, Peter F., additional, Abeysekera, Waruni, additional, Whitehead, Lachlan, additional, Lewis, Sabrina M., additional, Symons, Robert C. A., additional, Baldwin, Tracey M., additional, Amann-Zalcenstein, Daniela, additional, Garnham, Alexandra L., additional, Naik, Shalin H., additional, Smyth, Gordon K., additional, Thomas, Tim, additional, Voss, Anne K., additional, and Coultas, Leigh, additional

Published
2021
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46. The histone acetyltransferase HBO1 promotes efficient tip cell sprouting during angiogenesis

Author

Grant, Zoe L., primary, Hickey, Peter F., additional, Abeysekera, Waruni, additional, Whitehead, Lachlan, additional, Lewis, Sabrina M., additional, Symons, Robert C. A., additional, Baldwin, Tracey M., additional, Amann-Zalcenstein, Daniela, additional, Garnham, Alexandra L., additional, Naik, Shalin H., additional, Smyth, Gordon K., additional, Thomas, Tim, additional, Voss, Anne K., additional, and Coultas, Leigh, additional

Published
2021
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47. Abstract 1130: First-in-class KAT6A/KAT6B inhibitor CTx-648 (PF-9363) demonstrates potent anti-tumor activity in ER+ breast cancer with KAT6A dysregulation

Author

Sharma, Shikhar, primary, Chung, Jay, additional, Uryu, Sean, additional, Rickard, Amanda, additional, Nady, Natalie, additional, Khan, Showkhin, additional, Wang, Zhenxiong, additional, Zhang, Yong, additional, Zhang, Haikuo, additional, Kung, Pei-Pei, additional, Greenwald, Eric, additional, Maegley, Karen, additional, Bingham, Patrick, additional, Lam, Hieu, additional, Bozikis, Ylva E., additional, Falk, Hendrik, additional, Allan, Elizabeth, additional, Avery, Vicky M., additional, Butler, Miriam S., additional, Camerino, Michelle A., additional, Carrasco-Pozo, Catalina, additional, Charman, Susan A., additional, Davis, Melissa J., additional, Dawson, Mark A., additional, Sarah-Jane, Dawson, additional, de Silva, Melanie, additional, Dennis, Matthew L., additional, Dolezal, Olan, additional, Lagiakos, Rachel, additional, Lindeman, Geoffrey J., additional, MacPherson, Laura, additional, Nuttall, Stewart, additional, Peat, Thomas S., additional, Ren, Bin, additional, Stupple, Alexandra E., additional, Surgenor, Elliot, additional, Tan, Chin Wee, additional, Thomas, Tim, additional, Visvader, Jane E., additional, Voss, Anne K., additional, Vaillant, Francois, additional, White, Karen L., additional, Whittle, James, additional, Yang, Yuqing, additional, Hediyeh-Zadeh, Soroor, additional, Stupple, Paul A., additional, Street, Ian P., additional, Monahan, Brendon J., additional, and Paul, Thomas, additional

Published
2021
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48. Redundant mesocolonic mesentery in a Shire colt

Author

Voss, Jana K. and Dubois, Marie-Soleil

Subjects
Scientific
Abstract

An unusual condition in a 3-month-old Shire colt presented for colic unresponsive to medical therapy is documented in this report. A redundant mesocolonic mesentery resulting in intestinal displacement and volvulus was diagnosed during exploratory celiotomy. The finding was presumed to be congenital, resulting in a loose anatomic configuration that predisposed the intestine to displacement, torsion, volvulus, and entrapment. Key clinical message: This case demonstrates that congenial anatomical anomalies should be included in the differential of younger animals presented for recurrent conditions and highlights the use of exploratory celiotomy to reach a definitive diagnosis.

Published
2021

49. Publisher Correction : Clinical evolution, genetic landscape and trajectories of clonal hematopoiesis in SAMD9/SAMD9L syndromes (Nature Medicine, (2021), 27, 10, (1806-1817), )

Author

Sahoo, Sushree S., Pastor, Victor B., Goodings, Charnise, Voss, Rebecca K., Kozyra, Emilia J., Szvetnik, Amina, Noellke, Peter, Dworzak, Michael, Starý, Jan, Locatelli, Franco, Masetti, Riccardo, Schmugge, Markus, De Moerloose, Barbara, Catala, Albert, Kállay, Krisztián, Turkiewicz, Dominik, Hasle, Henrik, Buechner, Jochen, Jahnukainen, Kirsi, Ussowicz, Marek, Polychronopoulou, Sophia, Smith, Owen P., Fabri, Oksana, Barzilai, Shlomit, de Haas, Valerie, Baumann, Irith, Schwarz-Furlan, Stephan, Moerloose, Barbara De, Kallay, Krisztián, Smith, Owen, Haas, Valérie De, Gohring, Gudrun, Niemeyer, Charlotte, Nebral, Karin, Simonitsch-Kluppp, Ingrid, Paepe, Pascale De, Van Roy, Nadine, Campr, Vit, Zemanova, Zuzana, Clasen-Linde, Erik, Plesner, Tine, Schlegelberger, Brigitte, Rudelius, Martina, Manola, Kalliopi, Stefanaki, Kalliopi, Csomor, Judit, Andrikovics, Hajnalka, Betts, David, O’Sullivan, Maureen, Zohar, Yaniv, Jeison, Marta, Vito, Rita De, Pasquali, Francesco, Maldyk, Jadwiga, Haus, Olga, Alaiz, Helena, Kjollerstrom, Paula, Lemos, Luis Mascarenhas de, Bodova, Ivana, Čermák, Martin, Plank, Lukas, Gazic, Barbara, Kavcic, Marko, Podgornik, Helena, Ros, Margarita Llavador, Cervera, Jose, Gengler, Carole, Tchinda, Joelle, Beverloo, Berna, Leguit, Roos, Niewisch, Marena R., Sauer, Martin G., Burkhardt, Birgit, Lang, Peter, Bader, Peter, Beier, Rita, Müller, Ingo, Albert, Michael H., Meisel, Roland, Schulz, Ansgar, Cario, Gunnar, Panda, Pritam K., Wehrle, Julius, Hirabayashi, Shinsuke, Derecka, Marta, Durruthy-Durruthy, Robert, Göhring, Gudrun, Yoshimi-Noellke, Ayami, Ku, Manching, Lebrecht, Dirk, Erlacher, Miriam, Flotho, Christian, Strahm, Brigitte, Niemeyer, Charlotte M., and Wlodarski, Marcin W.

Subjects
Medizin
Abstract

Korrektur zu 10.1038/s41591-021-01511-6

Published
2021

50. Clinical evolution, genetic landscape and trajectories of clonal hematopoiesis in SAMD9/SAMD9L syndromes

Author

Sahoo, S. S., Pastor, V. B., Goodings, C., Voss, R. K., Kozyra, E. J., Szvetnik, A., Noellke, P., Dworzak, M., Stary, J., Locatelli, Franco, Masetti, R., Schmugge, M., De Moerloose, B., Catala, A., Kallay, K., Turkiewicz, D., Hasle, H., Buechner, J., Jahnukainen, K., Ussowicz, M., Polychronopoulou, S., Smith, O. P., Fabri, O., Barzilai, S., de Haas, V., Baumann, I., Schwarz-Furlan, S., Smith, O., Haas, V. D., Gohring, G., Niemeyer, C., Nebral, K., Simonitsch-Kluppp, I., Paepe, P. D., Van Roy, N., Campr, V., Zemanova, Z., Clasen-Linde, E., Plesner, T., Schlegelberger, B., Rudelius, M., Manola, K., Stefanaki, K., Csomor, J., Andrikovics, H., Betts, D., O'Sullivan, M., Zohar, Y., Jeison, M., Vito, R. D., Pasquali, F., Maldyk, J., Haus, O., Alaiz, H., Kjollerstrom, P., Lemos, L. M., Bodova, I., Cermak, M., Plank, L., Gazic, B., Kavcic, M., Podgornik, H., Ros, M. L., Cervera, J., Gengler, C., Tchinda, J., Beverloo, B., Leguit, R., Niewisch, M. R., Sauer, M. G., Burkhardt, B., Lang, P., Bader, P., Beier, R., Muller, I., Albert, M. H., Meisel, R., Schulz, A., Cario, G., Panda, P. K., Wehrle, J., Hirabayashi, S., Derecka, M., Durruthy-Durruthy, R., Yoshimi-Noellke, A., Ku, M., Lebrecht, D., Erlacher, M., Flotho, C., Strahm, B., Niemeyer, C. M., Wlodarski, M. W., Locatelli F. (ORCID:0000-0002-7976-3654), Sahoo, S. S., Pastor, V. B., Goodings, C., Voss, R. K., Kozyra, E. J., Szvetnik, A., Noellke, P., Dworzak, M., Stary, J., Locatelli, Franco, Masetti, R., Schmugge, M., De Moerloose, B., Catala, A., Kallay, K., Turkiewicz, D., Hasle, H., Buechner, J., Jahnukainen, K., Ussowicz, M., Polychronopoulou, S., Smith, O. P., Fabri, O., Barzilai, S., de Haas, V., Baumann, I., Schwarz-Furlan, S., Smith, O., Haas, V. D., Gohring, G., Niemeyer, C., Nebral, K., Simonitsch-Kluppp, I., Paepe, P. D., Van Roy, N., Campr, V., Zemanova, Z., Clasen-Linde, E., Plesner, T., Schlegelberger, B., Rudelius, M., Manola, K., Stefanaki, K., Csomor, J., Andrikovics, H., Betts, D., O'Sullivan, M., Zohar, Y., Jeison, M., Vito, R. D., Pasquali, F., Maldyk, J., Haus, O., Alaiz, H., Kjollerstrom, P., Lemos, L. M., Bodova, I., Cermak, M., Plank, L., Gazic, B., Kavcic, M., Podgornik, H., Ros, M. L., Cervera, J., Gengler, C., Tchinda, J., Beverloo, B., Leguit, R., Niewisch, M. R., Sauer, M. G., Burkhardt, B., Lang, P., Bader, P., Beier, R., Muller, I., Albert, M. H., Meisel, R., Schulz, A., Cario, G., Panda, P. K., Wehrle, J., Hirabayashi, S., Derecka, M., Durruthy-Durruthy, R., Yoshimi-Noellke, A., Ku, M., Lebrecht, D., Erlacher, M., Flotho, C., Strahm, B., Niemeyer, C. M., Wlodarski, M. W., and Locatelli F. (ORCID:0000-0002-7976-3654)

Abstract

Germline SAMD9 and SAMD9L mutations (SAMD9/9Lmut) predispose to myelodysplastic syndromes (MDS) with propensity for somatic rescue. In this study, we investigated a clinically annotated pediatric MDS cohort (n = 669) to define the prevalence, genetic landscape, phenotype, therapy outcome and clonal architecture of SAMD9/9L syndromes. In consecutively diagnosed MDS, germline SAMD9/9Lmut accounted for 8% and were mutually exclusive with GATA2 mutations present in 7% of the cohort. Among SAMD9/9Lmut cases, refractory cytopenia was the most prevalent MDS subtype (90%); acquired monosomy 7 was present in 38%; constitutional abnormalities were noted in 57%; and immune dysfunction was present in 28%. The clinical outcome was independent of germline mutations. In total, 67 patients had 58 distinct germline SAMD9/9Lmut clustering to protein middle regions. Despite inconclusive in silico prediction, 94% of SAMD9/9Lmut suppressed HEK293 cell growth, and mutations expressed in CD34+ cells induced overt cell death. Furthermore, we found that 61% of SAMD9/9Lmut patients underwent somatic genetic rescue (SGR) resulting in clonal hematopoiesis, of which 95% was maladaptive (monosomy 7 ± cancer mutations), and 51% had adaptive nature (revertant UPD7q, somatic SAMD9/9Lmut). Finally, bone marrow single-cell DNA sequencing revealed multiple competing SGR events in individual patients. Our findings demonstrate that SGR is common in SAMD9/9Lmut MDS and exemplify the exceptional plasticity of hematopoiesis in children.

Published
2021

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