Zobrazeno 1 - 10
of 65
pro vyhledávání: '"Loydie A. Jerome-Majewska"'
Autor:
Sabrina Shameen Alam, Shruti Kumar, Marie-Claude Beauchamp, Eric Bareke, Alexia Boucher, Nadine Nzirorera, Yanchen Dong, Reinnier Padilla, Si Jing Zhang, Jacek Majewski, Loydie A. Jerome-Majewska
Publikováno v:
Disease Models & Mechanisms, Vol 15, Iss 6 (2022)
Heterozygous mutations in SNRPB, an essential core component of the five small ribonucleoprotein particles of the spliceosome, are responsible for cerebrocostomandibular syndrome (CCMS). We show that Snrpb heterozygous mouse embryos arrest shortly af
Externí odkaz:
https://doaj.org/article/1afd30dd48e1408eb3025a80778fcc3e
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 16, p 9033 (2022)
Embryos with homozygous mutation of Eftud2 in their neural crest cells (Eftud2ncc−/−) have brain and craniofacial malformations, hyperactivation of the P53-pathway and die before birth. Treatment of Eftud2ncc−/− embryos with pifithrin-α, a P
Externí odkaz:
https://doaj.org/article/e0041bf01d6c4a218ec3ca69b95b746a
Autor:
Channabasavaiah B. Gurumurthy, Aidan R. O’Brien, Rolen M. Quadros, John Adams, Pilar Alcaide, Shinya Ayabe, Johnathan Ballard, Surinder K. Batra, Marie-Claude Beauchamp, Kathleen A. Becker, Guillaume Bernas, David Brough, Francisco Carrillo-Salinas, Wesley Chan, Hanying Chen, Ruby Dawson, Victoria DeMambro, Jinke D’Hont, Katharine M. Dibb, James D. Eudy, Lin Gan, Jing Gao, Amy Gonzales, Anyonya R. Guntur, Huiping Guo, Donald W. Harms, Anne Harrington, Kathryn E. Hentges, Neil Humphreys, Shiho Imai, Hideshi Ishii, Mizuho Iwama, Eric Jonasch, Michelle Karolak, Bernard Keavney, Nay-Chi Khin, Masamitsu Konno, Yuko Kotani, Yayoi Kunihiro, Imayavaramban Lakshmanan, Catherine Larochelle, Catherine B. Lawrence, Lin Li, Volkhard Lindner, Xian-De Liu, Gloria Lopez-Castejon, Andrew Loudon, Jenna Lowe, Loydie A. Jerome-Majewska, Taiji Matsusaka, Hiromi Miura, Yoshiki Miyasaka, Benjamin Morpurgo, Katherine Motyl, Yo-ichi Nabeshima, Koji Nakade, Toshiaki Nakashiba, Kenichi Nakashima, Yuichi Obata, Sanae Ogiwara, Mariette Ouellet, Leif Oxburgh, Sandra Piltz, Ilka Pinz, Moorthy P. Ponnusamy, David Ray, Ronald J. Redder, Clifford J. Rosen, Nikki Ross, Mark T. Ruhe, Larisa Ryzhova, Ane M. Salvador, Sabrina Shameen Alam, Radislav Sedlacek, Karan Sharma, Chad Smith, Katrien Staes, Lora Starrs, Fumihiro Sugiyama, Satoru Takahashi, Tomohiro Tanaka, Andrew W. Trafford, Yoshihiro Uno, Leen Vanhoutte, Frederique Vanrockeghem, Brandon J. Willis, Christian S. Wright, Yuko Yamauchi, Xin Yi, Kazuto Yoshimi, Xuesong Zhang, Yu Zhang, Masato Ohtsuka, Satyabrata Das, Daniel J. Garry, Tino Hochepied, Paul Thomas, Jan Parker-Thornburg, Antony D. Adamson, Atsushi Yoshiki, Jean-Francois Schmouth, Andrei Golovko, William R. Thompson, K. C. Kent Lloyd, Joshua A. Wood, Mitra Cowan, Tomoji Mashimo, Seiya Mizuno, Hao Zhu, Petr Kasparek, Lucy Liaw, Joseph M. Miano, Gaetan Burgio
Publikováno v:
Genome Biology, Vol 20, Iss 1, Pp 1-14 (2019)
Abstract Background CRISPR-Cas9 gene-editing technology has facilitated the generation of knockout mice, providing an alternative to cumbersome and time-consuming traditional embryonic stem cell-based methods. An earlier study reported up to 16% effi
Externí odkaz:
https://doaj.org/article/d080d0cd1924426bb1475dd31116c836
Publikováno v:
Nutrients, Vol 5, Iss 9, Pp 3531-3550 (2013)
Vitamin B12 (cobalamin, Cbl) is required for cellular metabolism. It is an essential coenzyme in mammals for two reactions: the conversion of homocysteine to methionine by the enzyme methionine synthase and the conversion of methylmalonyl-CoA to succ
Externí odkaz:
https://doaj.org/article/469c1d15ae1c4a92a4378cf7e3fd8029
Autor:
Shruti Kumar, Sabrina Shameen Alam, Eric Bareke, Marie-Claude Beauchamp, Yanchen Dong, Wesley Chan, Jacek Majewski, Loydie A. Jerome-Majewska
Publikováno v:
Differentiation. 131:59-73
Autor:
Marie-Claude Beauchamp, Anissa Djedid, Kevin Daupin, Kayla Clokie, Shruti Kumar, Jacek Majewski, Loydie Anne Jerome-Majewska
Publikováno v:
PLoS ONE, Vol 14, Iss 7, p e0219280 (2019)
Mutations in EFTUD2 are responsible for the autosomal dominant syndrome named MFDM (mandibulofacial dysostosis with microcephaly). However, it is not clear how reduced levels of EFTUD2 cause abnormalities associated with this syndrome. To determine i
Externí odkaz:
https://doaj.org/article/412905e3589f4083b86131b0c47d5a1e
Publikováno v:
The Anatomical Record. 305:1019-1031
As organizations that facilitate collaboration and communication, scientific societies have an opportunity, and a responsibility, to drive inclusion, diversity, equity, and accessibility in science in academia. The American Association for Anatomy (A
Publikováno v:
PLoS ONE, Vol 12, Iss 8, p e0182995 (2017)
The transmembrane emp24 domain/p24 (TMED) family are essential components of the vesicular transport machinery. Members of the TMED family serve as cargo receptors implicated in selection and packaging of endoplasmic reticulum (ER) luminal proteins i
Externí odkaz:
https://doaj.org/article/1e39a38c910c495d86952b70288fd908
Autor:
Jennifer L. Fish, Kym M. Boycott, Fjodor Merkuri, Peter C. Stirling, Rachel Aber, Matthew A. Lines, Eric Bareke, Marie-Claude Beauchamp, Anissa Djedid, Loydie A. Jerome-Majewska, Annie S. Tam, Jacek Majewski
Publikováno v:
Hum Mol Genet
EFTUD2 is mutated in patients with mandibulofacial dysostosis with microcephaly (MFDM). We generated a mutant mouse line with conditional mutation in Eftud2 and used Wnt1-Cre2 to delete it in neural crest cells. Homozygous deletion of Eftud2 causes b
Autor:
Sima Khazaei, Carol C.L. Chen, Augusto Faria Andrade, Nisha Kabir, Pariya Azarafshar, Shahir M. Morcos, Josiane Alves França, Mariana Lopes, Peder J. Lund, Geoffroy Danieau, Samantha Worme, Lata Adnani, Nadine Nzirorera, Xiao Chen, Gayathri Yogarajah, Caterina Russo, Michele Zeinieh, Cassandra J. Wong, Laura Bryant, Steven Hébert, Bethany Tong, Tianna S. Sihota, Damien Faury, Evan Puligandla, Wajih Jawhar, Veronica Sandy, Mitra Cowan, Emily M. Nakada, Loydie A. Jerome-Majewska, Benjamin Ellezam, Carolina Cavalieri Gomes, Jonas Denecke, Davor Lessel, Marie T. McDonald, Carolyn E. Pizoli, Kathryn Taylor, Benjamin T. Cocanougher, Elizabeth J. Bhoj, Anne-Claude Gingras, Benjamin A. Garcia, Chao Lu, Eric I. Campos, Claudia L. Kleinman, Livia Garzia, Nada Jabado
Publikováno v:
Cell. 186:1162-1178.e20