Zobrazeno 1 - 10
of 22
pro vyhledávání: '"Ian Blumenthal"'
Publikováno v:
FEBS Open Bio, Vol 11, Iss 3, Pp 705-713 (2021)
Combinations of human lysozyme (hLYS) and antimicrobial peptides (AMPs) are known to exhibit either additive or synergistic activity, and as a result, they have therapeutic potential for persistent and antibiotic‐resistant infections. We examined h
Externí odkaz:
https://doaj.org/article/a6bde1bb5e2c478fab28c1e70b58f7d9
Autor:
Ciana L. López, Katherine J. Brempelis, James F. Matthaei, Kate S. Montgomery, Selvi Srinivasan, Debashish Roy, Fei Huang, Shannon A. Kreuser, Jennifer L. Gardell, Ian Blumenthal, John Chiefari, Michael C. Jensen, Courtney A. Crane, Patrick S. Stayton
Publikováno v:
Adv Healthc Mater
Engineered immune cells are an exciting therapeutic modality which survey and attack tumors. Backpacking strategies exploit cell targeting capabilities for delivery of drugs to combat tumors and their immune-suppressive environments. Here, a new plat
Autor:
Ian Blumenthal, Catarina M. Seabra, Poornima Manavalan, Charles Lee, Ryan L. Collins, Derek J. C. Tai, Yiping Shen, Michael E. Talkowski, Mustafa Sahin, James F. Gusella, Xiaoli Chen, Serkan Erdin, Alexei Stortchevoi, Chengsheng Zhang, Ashok Ragavendran
Publikováno v:
Nature neuroscience
Recurrent, reciprocal genomic disorders resulting from non-allelic homologous recombination (NAHR) between near-identical segmental duplications (SDs) are a major cause of human disease, often producing phenotypically distinct syndromes. The genomic
Autor:
Bozena Bohuslavova, Jana Klouckova, Jan Motlik, Michael E. Talkowski, Monika Baxa, James F. Gusella, Ivona Valekova, David Howland, Marian DiFiglia, Martin Haluzik, Jiri Klempir, Klara Vochyanova, Antonin Pavlok, Jana Juhasova, Ian Blumenthal, Hana Hansikova, Miroslava Sedláčková, Jiri Klima, Stefan Juhas, Zdenka Ellederova, Daniela Vidinska, Monika Macakova, Jana Spacilova, Irena Liskova, Petra Vochozkova, Ryan L. Collins
Publikováno v:
Neurodegenerative Diseases. 16:245-259
Background: Huntington's disease is induced by CAG expansion in a single gene coding the huntingtin protein. The mutated huntingtin (mtHtt) primarily causes degeneration of neurons in the brain, but it also affects peripheral tissues, including teste
Autor:
Bert Callewaert, Robert J. Hopkin, David A. Koolen, Hennie T. Brüggenwirth, Dezso David, Heather L. Ferguson, Helen Cox, Claire Redin, Joseph V. Thakuria, Ryan L. Collins, Mary-Alice Abbott, Michael E. Talkowski, Sjors Middelkamp, Michael J. Macera, Salmo Raskin, William J. Rhead, Heather Fisher, Han G. Brunner, Emmanuelle Lemyre, Margo Grady, Elyse Mitchell, Tarja Mononen, Sofia L. Alcaraz-Estrada, Cristin Griffis, Emily Moe, Samantha L.P. Schilit, Matthew J. Waterman, Colby Chiang, Aggie W. M. Nieuwint, Ivo Renkens, Joan F. Atkin, Jessie C. Jacobsen, Shehla Mohammed, Ernie M.H.F. Bongers, Maria de la Concepcion A Yerena-de Vega, Wigard P. Kloosterman, Jiddeke M. van de Kamp, Ton van Essen, Liya R Mikami, Tom Cushing, Conny M. A. van Ravenswaaij-Arts, Melita Irving, Kwame Anyane-Yeboa, Diane Masser-Frye, Catarina M. Seabra, Daniela Giachino, Bert B.A. de Vries, Brynn Levy, Caroline Antolik, Tina M. Bartell, Erika Aberg, Edwin Cuppen, Pamela Gerrol, Shahrin Pereira, Megan Mortenson, Raul Eduardo Pina Aguilar, Zehra Ordulu, Jennelle C. Hodge, Nicole de Leeuw, Troy J. Gliem, Michael W. McClellan, Sarah Vergult, Julia Tagoe, Giulia Pregno, Sandhya Parkash, David R. FitzPatrick, Giorgia Mandrile, Catharina M L Volker-Touw, Joseph T. Glessner, Danielle Perrin, Haibo Li, Peter M. Kroisel, Rhett Adley, Jodi D. Hoffman, Dorothy Warburton, Lauren Margolin, David J. Harris, Omar A. Abdul-Rahman, Ineke van der Burgt, Benjamin Currall, Monika Weisz Hubshman, Marjolijn C.J. Jongmans, Roberto T. Zori, William Lawless, Cynthia Lim, Andrea Hanson-Kahn, Vamsee Pillalamarri, Ken Corning, Tamara Mason, Yu An, Pino J. Poddighe, Susan P. Pauker, Cinthya J Zepeda Mendoza, Fowzan S. Alkuraya, Mira Irons, Sandra Janssens, Ranad Shaheen, Kathleen A. Leppig, Erica Spiegel, Chester W. Brown, Cynthia C. Morton, Filip Roelens, Ron Hochstenbach, Tamison Jewett, James F. Gusella, John P. Johnson, Brett H. Graham, Björn Menten, Annelies Dheedene, Rosamund Hill, Eva H. Brilstra, Alex V. Levin, Carlo Marcelis, Anna Wilson, A. Micheil Innes, Matthew A. Deardorff, Marc D'Hooghe, Elizabeth Beyer, Katy Phelan, Jayla Ruliera, Carrie Hanscom, Mark A. Hayden, Debra Rita, Edward J. Lose, Poornima Manavalan, Jerome Korzelius, Susan Wiley, Harrison Brand, Matthew R. Stone, Diane Lucente, Markus J. van Roosmalen, Tammy Kammin, Rebecca Sparkes, Patrick Rump, Stephen G. Kahler, Graciela Moya, Bregje W.M. van Bon, Blair Stevens, Eric C. Liao, Karen W. Gripp, Yves Lacassie, Dawn L. Earl, Erik C. Thorland, Linda M. Reis, Andrea L. Gropman, Jonathan A. Bernstein, Ian Blumenthal, Mary-Anne Anderson, Hong Li
Publikováno v:
Nature Genetics, 49(1), 36-45. Nature Publishing Group
Redin, C, Brand, H, Collins, R L, Kammin, T, Mitchell, E, Hodge, J C, Hanscom, C, Pillalamarri, V, Seabra, C M, Abbott, M-A, Abdul-Rahman, O A, Aberg, E, Adley, R, Alcaraz-Estrada, S L, Alkuraya, F S, An, Y, Anderson, M-A, Antolik, C, Anyane-Yeboa, K, Atkin, J F, Bartell, T, Bernstein, J A, Beyer, E, Blumenthal, I, Bongers, E M H F, Brilstra, E H, Brown, C W, Brüggenwirth, H T, Callewaert, B, Chiang, C, Corning, K, Cox, H, Cuppen, E, Currall, B B, Cushing, T, David, D, Deardorff, M A, Dheedene, A, D'Hooghe, M, de Vries, B B A, Earl, D L, Ferguson, H L, Fisher, H, FitzPatrick, D R, Gerrol, P, Giachino, D, Glessner, J T, Gliem, T, Grady, M, Graham, B H, Griffis, C, Gripp, K W, Gropman, A L, Hanson-Kahn, A, Harris, D J, Hayden, M A, Hill, R, Hochstenbach, R, Hoffman, J D, Hopkin, R J, Hubshman, M W, Innes, A M, Irons, M, Irving, M, Jacobsen, J C, Janssens, S, Jewett, T, Johnson, J P, Jongmans, M C, Kahler, S G, Koolen, D A, Korzelius, J, Kroisel, P M, Lacassie, Y, Lawless, W, Lemyre, E, Leppig, K, Levin, A V, Li, H, Li, H, Liao, E C, Lim, C, Lose, E J, Lucente, D, Macera, M J, Manavalan, P, Mandrile, G, Marcelis, C L, Margolin, L, Mason, T, Masser-Frye, D, McClellan, M W, Mendoza, C J Z, Menten, B, Middelkamp, S, Mikami, L R, Moe, E, Mohammed, S, Mononen, T, Mortenson, M E, Moya, G, Nieuwint, A W, Ordulu, Z, Parkash, S, Pauker, S P, Pereira, S, Perrin, D, Phelan, K, Aguilar, R E P, Poddighe, P J, Pregno, G, Raskin, S, Reis, L, Rhead, W, Rita, D, Renkens, I, Roelens, F, Ruliera, J, Rump, P, Schilit, S L P, Shaheen, R, Sparkes, R, Spiegel, E, Stevens, B, Stone, M R, Tagoe, J, Thakuria, J V, van Bon, B W, van de Kamp, J, van Der Burgt, I, van Essen, T, van Ravenswaaij-Arts, C M, van Roosmalen, M J, Vergult, S, Volker-Touw, C M L, Warburton, D P, Waterman, M J, Wiley, S, Wilson, A, Yerena-de Vega, M D L C A, Zori, R T, Levy, B, Brunner, H G, de Leeuw, N, Kloosterman, W P, Thorland, E C, Morton, C C, Gusella, J F & Talkowski, M E 2017, ' The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies ', Nature Genetics, vol. 49, no. 1, pp. 36-45 . https://doi.org/10.1038/ng.3720
Nature Genetics, 49, 1, pp. 36-45
Nature Genetics, 49, 36-45
Redin, C, Brand, H, Collins, R L, Kammin, T, Mitchell, E, Hodge, J C, Hanscom, C, Pillalamarri, V, Seabra, C M, Abbott, M A, Abdul-Rahman, O A, Aberg, E, Adley, R, Alcaraz-Estrada, S L, Alkuraya, F S, An, Y, Anderson, M A, Antolik, C, Anyane-Yeboa, K, Atkin, J F, Bartell, T, Bernstein, J A, Beyer, E, Blumenthal, I, Bongers, E M H F, Brilstra, E H, Brown, C W, Brüggenwirth, H T, Callewaert, B, Chiang, C, Corning, K, Cox, H, Cuppen, E, Currall, B B, Cushing, T, David, D, Deardorff, M A, Dheedene, A, D'Hooghe, M, De Vries, B B A, Earl, D L, Ferguson, H L, Fisher, H, FitzPatrick, D R, Gerrol, P, Giachino, D, Glessner, J T, Gliem, T, Grady, M, Graham, B H, Griffis, C, Gripp, K W, Gropman, A L, Hanson-Kahn, A, Harris, D J, Hayden, M A, Hill, R, Hochstenbach, R, Hoffman, J D, Hopkin, R J, Hubshman, M W, Innes, A M, Irons, M, Irving, M, Jacobsen, J C, Janssens, S, Jewett, T, Johnson, J P, Jongmans, M C, Kahler, S G, Koolen, D A, Korzelius, J, Kroisel, P M, Lacassie, Y, Lawless, W, Lemyre, E, Leppig, K, Levin, A V, Li, H, Li, H, Liao, E C, Lim, C, Lose, E J, Lucente, D, MacEra, M J, Manavalan, P, Mandrile, G, Marcelis, C L, Margolin, L, Mason, T, Masser-Frye, D, McClellan, M W, Zepeda Mendoza, C J, Menten, B, Middelkamp, S, Mikami, L R, Moe, E, Mohammed, S, Mononen, T, Mortenson, M E, Moya, G, Nieuwint, A W, Ordulu, Z, Parkash, S, Pauker, S P, Pereira, S, Perrin, D, Phelan, K, Piña Aguilar, R E, Poddighe, P J, Pregno, G, Raskin, S, Reis, L, Rhead, W, Rita, D, Renkens, I, Roelens, F, Ruliera, J, Rump, P, Schilit, S L P, Shaheen, R, Sparkes, R, Spiegel, E, Stevens, B, Stone, M R, Tagoe, J, Thakuria, J V, Van Bon, B W, Van De Kamp, J, Van Der Burgt, I, Van Essen, T, Van Ravenswaaij-Arts, C M, Van Roosmalen, M J, Vergult, S, Volker-Touw, C M L, Warburton, D P, Waterman, M J, Wiley, S, Wilson, A, Yerena-De Vega, M D L C A, Zori, R T, Levy, B, Brunner, H G, De Leeuw, N, Kloosterman, W P, Thorland, E C, Morton, C C, Gusella, J F & Talkowski, M E 2017, ' The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies ', Nature Genetics, vol. 49, no. 1, pp. 36-45 . https://doi.org/10.1038/ng.3720
Nature Genetics, 49(1), 36–45. Nature Publishing Group
Redin, C, Brand, H, Collins, R L, Kammin, T, Mitchell, E, Hodge, J C, Hanscom, C, Pillalamarri, V, Seabra, C M, Abbott, M-A, Abdul-Rahman, O A, Aberg, E, Adley, R, Alcaraz-Estrada, S L, Alkuraya, F S, An, Y, Anderson, M-A, Antolik, C, Anyane-Yeboa, K, Atkin, J F, Bartell, T, Bernstein, J A, Beyer, E, Blumenthal, I, Bongers, E M H F, Brilstra, E H, Brown, C W, Brüggenwirth, H T, Callewaert, B, Chiang, C, Corning, K, Cox, H, Cuppen, E, Currall, B B, Cushing, T, David, D, Deardorff, M A, Dheedene, A, D'Hooghe, M, de Vries, B B A, Earl, D L, Ferguson, H L, Fisher, H, FitzPatrick, D R, Gerrol, P, Giachino, D, Glessner, J T, Gliem, T, Grady, M, Graham, B H, Griffis, C, Gripp, K W, Gropman, A L, Hanson-Kahn, A, Harris, D J, Hayden, M A, Hill, R, Hochstenbach, R, Hoffman, J D, Hopkin, R J, Hubshman, M W, Innes, A M, Irons, M, Irving, M, Jacobsen, J C, Janssens, S, Jewett, T, Johnson, J P, Jongmans, M C, Kahler, S G, Koolen, D A, Korzelius, J, Kroisel, P M, Lacassie, Y, Lawless, W, Lemyre, E, Leppig, K, Levin, A V, Li, H, Li, H, Liao, E C, Lim, C, Lose, E J, Lucente, D, Macera, M J, Manavalan, P, Mandrile, G, Marcelis, C L, Margolin, L, Mason, T, Masser-Frye, D, McClellan, M W, Mendoza, C J Z, Menten, B, Middelkamp, S, Mikami, L R, Moe, E, Mohammed, S, Mononen, T, Mortenson, M E, Moya, G, Nieuwint, A W, Ordulu, Z, Parkash, S, Pauker, S P, Pereira, S, Perrin, D, Phelan, K, Aguilar, R E P, Poddighe, P J, Pregno, G, Raskin, S, Reis, L, Rhead, W, Rita, D, Renkens, I, Roelens, F, Ruliera, J, Rump, P, Schilit, S L P, Shaheen, R, Sparkes, R, Spiegel, E, Stevens, B, Stone, M R, Tagoe, J, Thakuria, J V, van Bon, B W, van de Kamp, J, van Der Burgt, I, van Essen, T, van Ravenswaaij-Arts, C M, van Roosmalen, M J, Vergult, S, Volker-Touw, C M L, Warburton, D P, Waterman, M J, Wiley, S, Wilson, A, Yerena-de Vega, M D L C A, Zori, R T, Levy, B, Brunner, H G, de Leeuw, N, Kloosterman, W P, Thorland, E C, Morton, C C, Gusella, J F & Talkowski, M E 2017, ' The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies ', Nature Genetics, vol. 49, no. 1, pp. 36-45 . https://doi.org/10.1038/ng.3720
Nature Genetics, 49, 1, pp. 36-45
Nature Genetics, 49, 36-45
Redin, C, Brand, H, Collins, R L, Kammin, T, Mitchell, E, Hodge, J C, Hanscom, C, Pillalamarri, V, Seabra, C M, Abbott, M A, Abdul-Rahman, O A, Aberg, E, Adley, R, Alcaraz-Estrada, S L, Alkuraya, F S, An, Y, Anderson, M A, Antolik, C, Anyane-Yeboa, K, Atkin, J F, Bartell, T, Bernstein, J A, Beyer, E, Blumenthal, I, Bongers, E M H F, Brilstra, E H, Brown, C W, Brüggenwirth, H T, Callewaert, B, Chiang, C, Corning, K, Cox, H, Cuppen, E, Currall, B B, Cushing, T, David, D, Deardorff, M A, Dheedene, A, D'Hooghe, M, De Vries, B B A, Earl, D L, Ferguson, H L, Fisher, H, FitzPatrick, D R, Gerrol, P, Giachino, D, Glessner, J T, Gliem, T, Grady, M, Graham, B H, Griffis, C, Gripp, K W, Gropman, A L, Hanson-Kahn, A, Harris, D J, Hayden, M A, Hill, R, Hochstenbach, R, Hoffman, J D, Hopkin, R J, Hubshman, M W, Innes, A M, Irons, M, Irving, M, Jacobsen, J C, Janssens, S, Jewett, T, Johnson, J P, Jongmans, M C, Kahler, S G, Koolen, D A, Korzelius, J, Kroisel, P M, Lacassie, Y, Lawless, W, Lemyre, E, Leppig, K, Levin, A V, Li, H, Li, H, Liao, E C, Lim, C, Lose, E J, Lucente, D, MacEra, M J, Manavalan, P, Mandrile, G, Marcelis, C L, Margolin, L, Mason, T, Masser-Frye, D, McClellan, M W, Zepeda Mendoza, C J, Menten, B, Middelkamp, S, Mikami, L R, Moe, E, Mohammed, S, Mononen, T, Mortenson, M E, Moya, G, Nieuwint, A W, Ordulu, Z, Parkash, S, Pauker, S P, Pereira, S, Perrin, D, Phelan, K, Piña Aguilar, R E, Poddighe, P J, Pregno, G, Raskin, S, Reis, L, Rhead, W, Rita, D, Renkens, I, Roelens, F, Ruliera, J, Rump, P, Schilit, S L P, Shaheen, R, Sparkes, R, Spiegel, E, Stevens, B, Stone, M R, Tagoe, J, Thakuria, J V, Van Bon, B W, Van De Kamp, J, Van Der Burgt, I, Van Essen, T, Van Ravenswaaij-Arts, C M, Van Roosmalen, M J, Vergult, S, Volker-Touw, C M L, Warburton, D P, Waterman, M J, Wiley, S, Wilson, A, Yerena-De Vega, M D L C A, Zori, R T, Levy, B, Brunner, H G, De Leeuw, N, Kloosterman, W P, Thorland, E C, Morton, C C, Gusella, J F & Talkowski, M E 2017, ' The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies ', Nature Genetics, vol. 49, no. 1, pp. 36-45 . https://doi.org/10.1038/ng.3720
Nature Genetics, 49(1), 36–45. Nature Publishing Group
Despite the clinical significance of balanced chromosomal abnormalities (BCAs), their characterization has largely been restricted to cytogenetic resolution. We explored the landscape of BCAs at nucleotide resolution in 273 subjects with a spectrum o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4b5007f204ae92a2e6bbed6b2be1af11
https://pure.eur.nl/en/publications/0fcc4f6c-08f0-40fb-8699-0b62afce544c
https://pure.eur.nl/en/publications/0fcc4f6c-08f0-40fb-8699-0b62afce544c
Autor:
Alex Stortchevoi, Serkan Erdin, Colby Chiang, Carrie Hanscom, Jessie C. Jacobsen, Marcy E. MacDonald, Suzanne J. Reid, Carl Ernst, Russell G. Snell, James F. Gusella, Ian Blumenthal, Douglas Barker, Michael E. Talkowski, Renee R. Handley, A. Jennifer Morton
Publikováno v:
Scientific Reports
Integration of exogenous DNA into a host genome represents an important route to generate animal and cellular models for exploration into human disease and therapeutic development. In most models, little is known concerning structural integrity of th
Autor:
Ian Blumenthal, Bernie Devlin, Joshua Z. Levin, Carl Ernst, Vanessa C. Wheeler, Ashok Ragavendran, Kathryn Roeder, Poornima Manavalan, Aarathi Sugathan, Serkan Erdin, Michael E. Talkowski, Lambertus Klei, James F. Gusella, Jolene R. Guide, Julian Q. Zhou
Publikováno v:
The American Journal of Human Genetics. 94:870-883
Reciprocal copy-number variation (CNV) of a 593 kb region of 16p11.2 is a common genetic cause of autism spectrum disorder (ASD), yet it is not completely penetrant and can manifest in a wide array of phenotypes. To explore its molecular consequences
Autor:
Ian Blumenthal, James F. Gusella, Bai-Lin Wu, Colby Chiang, Xiaoli Chen, Vamsee Pillalamarri, Feng Zhang, Yiping Shen, Michael E. Talkowski
Publikováno v:
The American Journal of Human Genetics. 92(3):375-386
NRXN1 microdeletions occur at a relatively high frequency and confer increased risk for neurodevelopmental and neurobehavioral abnormalities. The mechanism that makes NRXN1 a deletion hotspot is unknown. Here, we identified deletions of the NRXN1 reg
Autor:
Eric C. Liao, Tatiana Hoyos, Ian Blumenthal, James F. Gusella, Lea Velsher, Amelia M. Lindgren, Carrie Hanscom, Lisa G. Shaffer, Tania Pynn, Cynthia C. Morton, Michael E. Talkowski, Shahrin Pereira, Joris Vermeesch, Joanne M. Drautz, Carol L. Clericuzio, David J. Harris, Jill A. Rosenfeld, Colby Chiang, Zehra Ordulu, Carl Ernst
Publikováno v:
Human Genetics. 132:537-552
We describe a female subject (DGAP100) with a 46,X,t(X;5)(p11.3;q35.3)inv(5)(q35.3q35.1)dn, severe psychomotor retardation with hypotonia, global postnatal growth restriction, microcephaly, globally reduced cerebral volume, seizures, facial dysmorphi
Autor:
Colby Chiang, Steve McCarroll, Gilles Maussion, Jin P. Szatkiewicz, Sébastien Jacquemont, Scott C. Bell, Colm O'Dushlaine, Michael E. Talkowski, Christina M. Hultman, Carrie Hanscom, Gustavo Turecki, Carl Ernst, Vanessa Kiyomi Ota, Dimitri J. Stavropoulos, Christian R. Marshall, Patrick F. Sullivan, Melissa T. Carter, Cynthia C. Morton, Martin Alda, Ian Blumenthal, Ilaria Kolobova, Nicolas Menjot de Champfleur, Jill A. Rosenfeld, Cristiana Cruceanu, Santhosh Girirajan, Ryan L. Collins, Stephen W. Scherer, James F. Gusella, Pamela Sklar, Zehra Ordulu, Fabrice Jollant, Lisa G. Shaffer
Publikováno v:
American Journal of Medical Genetics Part A
American Journal of Medical Genetics Part A, Wiley, 2017, 173 (2), pp.395-406. ⟨10.1002/ajmg.a.38021⟩
American Journal of Medical Genetics Part A, Wiley, 2017, 173 (2), pp.395-406. ⟨10.1002/ajmg.a.38021⟩
International audience; We performed whole-genome sequencing on an individual from a family with variable psychiatric phenotypes that had a sensory processing disorder, apraxia, and autism. The proband harbored a maternally inherited balanced translo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d6210bf6dfac0de582c34487d685f392
https://europepmc.org/articles/PMC5833302/
https://europepmc.org/articles/PMC5833302/