Zobrazeno 1 - 10
of 172
pro vyhledávání: '"Bradley Schaefer"'
P354: An apparently new brain MRI finding in Sotos syndrome: Extensively dilated perivascular spaces
Autor:
Leah Wibecan, Angela Lin, Karen Buch, Otto Rapalino, Frances High, Ashley Wong, Dorit Koren, G. Bradley Schaefer, Danielle Pier
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100382- (2023)
Externí odkaz:
https://doaj.org/article/41f471931cf14006a3b77caaf749a163
Autor:
Volkan Okur, Zefu Chen, Liesbeth Vossaert, Sandra Peacock, Jill Rosenfeld, Lina Zhao, Haowei Du, Emily Calamaro, Amanda Gerard, Sen Zhao, Jill Kelsay, Ashley Lahr, Chloe Mighton, Hillary M. Porter, Amy Siemon, Josh Silver, Shayna Svihovec, Chin-To Fong, Christina L. Grant, Jordan Lerner-Ellis, Kandamurugu Manickam, Suneeta Madan-Khetarpal, Shawn E. McCandless, Chantal F. Morel, G. Bradley Schaefer, Elizabeth M. Berry-Kravis, Ryan Gates, Natalia Gomez-Ospina, Guixing Qiu, Terry Jianguo Zhang, Zhihong Wu, Linyan Meng, Pengfei Liu, Daryl A. Scott, James R. Lupski, Christine M. Eng, Nan Wu, Bo Yuan
Publikováno v:
npj Genomic Medicine, Vol 6, Iss 1, Pp 1-10 (2021)
Abstract The histone H3 variant H3.3, encoded by two genes H3-3A and H3-3B, can replace canonical isoforms H3.1 and H3.2. H3.3 is important in chromatin compaction, early embryonic development, and lineage commitment. The role of H3.3 in somatic canc
Externí odkaz:
https://doaj.org/article/29cca276969242bdad121202e7d7f164
Autor:
Michael A. Levy, David B. Beck, Kay Metcalfe, Sofia Douzgou, Sivagamy Sithambaram, Trudie Cottrell, Muhammad Ansar, Jennifer Kerkhof, Cyril Mignot, Marie-Christine Nougues, Boris Keren, Hannah W. Moore, Renske Oegema, Jacques C. Giltay, Marleen Simon, Richard H. van Jaarsveld, Jessica Bos, Mieke van Haelst, M. Mahdi Motazacker, Elles M. J. Boon, Gijs W. E. Santen, Claudia A. L. Ruivenkamp, Marielle Alders, Teresa Romeo Luperchio, Leandros Boukas, Keri Ramsey, Vinodh Narayanan, G. Bradley Schaefer, Roberto Bonasio, Kimberly F. Doheny, Roger E. Stevenson, Sidharth Banka, Bekim Sadikovic, Jill A. Fahrner
Publikováno v:
npj Genomic Medicine, Vol 6, Iss 1, Pp 1-15 (2021)
Abstract TET3 encodes an essential dioxygenase involved in epigenetic regulation through DNA demethylation. TET3 deficiency, or Beck-Fahrner syndrome (BEFAHRS; MIM: 618798), is a recently described neurodevelopmental disorder of the DNA demethylation
Externí odkaz:
https://doaj.org/article/b671baf57f4d42619acfe5843fbbb345
Autor:
Brunet, Theresa, McWalter, Kirsty, Mayerhanser, Katharina, Anbouba, Grace M., Armstrong-Javors, Amy, Bader, Ingrid, Baugh, Evan, Begtrup, Amber, Bupp, Caleb P., Callewaert, Bert L., Cereda, Anna, Cousin, Margot A., Del Rey Jimenez, Juan C., Demmer, Laurie, Dsouza, Nikita R., Fleischer, Nicole, Gavrilova, Ralitza H., Ghate, Sumedha, Graf, Elisabeth, Green, Andrew, Green, Sarah R., Iascone, Maria, Kdissa, Ameni, Klee, Dirk, Klee, Eric W., Lancaster, Emily, Lindstrom, Kristin, Mayr, Johannes A., McEntagart, Meriel, Meeks, Naomi J.L., Mittag, Dana, Moore, Harrison, Olsen, Anne K., Ortiz, Damara, Parsons, Gretchen, Pena, Loren D.M., Person, Richard E., Punj, Sumit, Ramos-Rivera, Gonzalo Alonso, Sacoto, Maria J.Guillen, Bradley Schaefer, G., Schnur, Rhonda E., Scott, Tiana M., Scott, Daryl A., Serbinski, Carolyn R., Shashi, Vandana, Siu, Victoria M., Stadheim, Barbro Fossøy, Sullivan, Jennifer A., Švantnerová, Jana, Velsher, Lea, Wargowski, David S., Wentzensen, Ingrid M., Wieczorek, Dagmar, Winkelmann, Juliane, Yap, Patrick, Zech, Michael, Zimmermann, Michael T., Meitinger, Thomas, Distelmaier, Felix, Wagner, Matias
Publikováno v:
In Genetics in Medicine February 2021 23(2):384-395
Autor:
Jennifer C. Wong, Kameryn M. Butler, Lindsey Shapiro, Jacquelyn T. Thelin, Kari A. Mattison, Kathryn B. Garber, Paula C. Goldenberg, Shobana Kubendran, G. Bradley Schaefer, Andrew Escayg
Publikováno v:
Frontiers in Pharmacology, Vol 12 (2021)
Numerous SCN8A mutations have been identified, of which, the majority are de novo missense variants. Most mutations result in epileptic encephalopathy; however, some are associated with less severe phenotypes. Mouse models generated by knock-in of hu
Externí odkaz:
https://doaj.org/article/f765ae8f391a48a3a868a1a5685cd432
Autor:
Michael A. Levy, David B. Beck, Kay Metcalfe, Sofia Douzgou, Sivagamy Sithambaram, Trudie Cottrell, Muhammad Ansar, Jennifer Kerkhof, Cyril Mignot, Marie-Christine Nougues, Boris Keren, Hannah W. Moore, Renske Oegema, Jacques C. Giltay, Marleen Simon, Richard H. van Jaarsveld, Jessica Bos, Mieke van Haelst, M. Mahdi Motazacker, Elles M. J. Boon, Gijs W. E. Santen, Claudia A. L. Ruivenkamp, Marielle Alders, Teresa Romeo Luperchio, Leandros Boukas, Keri Ramsey, Vinodh Narayanan, G. Bradley Schaefer, Roberto Bonasio, Kimberly F. Doheny, Roger E. Stevenson, Siddharth Banka, Bekim Sadikovic, Jill A. Fahrner
Publikováno v:
npj Genomic Medicine, Vol 6, Iss 1, Pp 1-1 (2021)
Externí odkaz:
https://doaj.org/article/9827b109ef8940f7bf82494873e7341a
Autor:
Lam, Christina, Golas, Gretchen A., Davids, Mariska, Huizing, Marjan, Kane, Megan S., Krasnewich, Donna M., Malicdan, May Christine V., Adams, David R., Markello, Thomas C., Zein, Wadih M., Gropman, Andrea L., Lodish, Maya B., Stratakis, Constantine A., Maric, Irina, Rosenzweig, Sergio D., Baker, Eva H., Ferreira, Carlos R., Danylchuk, Noelle R., Kahler, Stephen, Garnica, Adolfo D., Bradley Schaefer, G., Boerkoel, Cornelius F., Gahl, William A., Wolfe, Lynne A.
Publikováno v:
In Molecular Genetics and Metabolism June-July 2015 115(2-3):128-140
Autor:
Kevin Brennan, Hong Zheng, Jill A Fahrner, June Ho Shin, Andrew J Gentles, Bradley Schaefer, John B Sunwoo, Jonathan A Bernstein, Olivier Gevaert
Publikováno v:
Human Molecular Genetics. 31:2164-2184
Sotos syndrome (SS), the most common overgrowth with intellectual disability (OGID) disorder, is caused by inactivating germline mutations of NSD1, which encodes a histone H3 lysine 36 methyltransferase. To understand how NSD1 inactivation deregulate
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::54e43e0770ee34800dcfd2c56ac7691e
https://doi.org/10.1093/hmg/ddac026
https://doi.org/10.1093/hmg/ddac026
Autor:
Joseph A, Chacko, Paul H, Phillips, Raghu H, Ramakrishnaiah, G Bradley, Schaefer, Sami H, Uwaydat
Publikováno v:
Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::ccd882e37dbb4124c1e5d48ea8dfaa4e
https://pubmed.ncbi.nlm.nih.gov/35427283
https://pubmed.ncbi.nlm.nih.gov/35427283
Autor:
Trudie Cottrell, Jacques C. Giltay, Richard H. van Jaarsveld, Elles M. J. Boon, Roger E. Stevenson, Michael A. Levy, Kimberly F. Doheny, Bekim Sadikovic, G. Bradley Schaefer, Roberto Bonasio, Muhammad Ansar, Vinodh Narayanan, Mieke M. van Haelst, Jill A. Fahrner, Marleen Simon, David B. Beck, Claudia A. L. Ruivenkamp, Sivagamy Sithambaram, Teresa Romeo Luperchio, Leandros Boukas, Marie-Christine Nougues, Hannah W. Moore, Marielle Alders, Renske Oegema, M. Mahdi Motazacker, Kay Metcalfe, Cyril Mignot, Jennifer Kerkhof, Gijs W. E. Santen, Jessica Bos, Sofia Douzgou, Siddharth Banka, Keri Ramsey, Boris Keren
Publikováno v:
npj Genomic Medicine, 6(1):92. Nature Publishing Group
NPJ Genomic Medicine
npj Genomic Medicine, 6(1). NATURE PORTFOLIO
Levy, M A, Beck, D B, Metcalfe, K, Douzgou, S, Sithambaram, S, Cottrell, T, Ansar, M, Kerkhof, J, Mignot, C, Nougues, M-C, Keren, B, Moore, H W, Oegema, R, Giltay, J C, Simon, M, van Jaarsveld, R H, Bos, J, van Haelst, M, Motazacker, M M, Boon, E M J, Santen, G W E, Ruivenkamp, C A L, Alders, M, Luperchio, T R, Boukas, L, Ramsey, K, Narayanan, V, Schaefer, G B, Bonasio, R, Doheny, K F, Stevenson, R E, Banka, S, Sadikovic, B & Fahrner, J A 2021, ' Deficiency of TET3 leads to a genome-wide DNA hypermethylation episignature in human whole blood ', NPJ GENOMIC MEDICINE, vol. 6, no. 1, 92 . https://doi.org/10.1038/s41525-021-00256-y
NPJ GENOMIC MEDICINE, 6(1):92. Nature Publishing Group
npj Genomic Medicine, Vol 6, Iss 1, Pp 1-15 (2021)
NPJ Genomic Medicine
npj Genomic Medicine, 6(1). NATURE PORTFOLIO
Levy, M A, Beck, D B, Metcalfe, K, Douzgou, S, Sithambaram, S, Cottrell, T, Ansar, M, Kerkhof, J, Mignot, C, Nougues, M-C, Keren, B, Moore, H W, Oegema, R, Giltay, J C, Simon, M, van Jaarsveld, R H, Bos, J, van Haelst, M, Motazacker, M M, Boon, E M J, Santen, G W E, Ruivenkamp, C A L, Alders, M, Luperchio, T R, Boukas, L, Ramsey, K, Narayanan, V, Schaefer, G B, Bonasio, R, Doheny, K F, Stevenson, R E, Banka, S, Sadikovic, B & Fahrner, J A 2021, ' Deficiency of TET3 leads to a genome-wide DNA hypermethylation episignature in human whole blood ', NPJ GENOMIC MEDICINE, vol. 6, no. 1, 92 . https://doi.org/10.1038/s41525-021-00256-y
NPJ GENOMIC MEDICINE, 6(1):92. Nature Publishing Group
npj Genomic Medicine, Vol 6, Iss 1, Pp 1-15 (2021)
TET3 encodes an essential dioxygenase involved in epigenetic regulation through DNA demethylation. TET3 deficiency, or Beck-Fahrner syndrome (BEFAHRS; MIM: 618798), is a recently described neurodevelopmental disorder of the DNA demethylation machiner
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4e7a4f9d28f382a7f3fbe53f6e51e36e
https://pure.amc.nl/en/publications/deficiency-of-tet3-leads-to-a-genomewide-dna-hypermethylation-episignature-in-human-whole-blood(5bc0d878-ad8f-46d9-b824-73ea86edb6dd).html
https://pure.amc.nl/en/publications/deficiency-of-tet3-leads-to-a-genomewide-dna-hypermethylation-episignature-in-human-whole-blood(5bc0d878-ad8f-46d9-b824-73ea86edb6dd).html
