son is necessary for proper vertebrate blood development.

Autor: Rebecca L Belmonte, Isabella L Engbretson, Jung-Hyun Kim, Illiana Cajias, Eun-Young Erin Ahn, David L Stachura

Publikováno v: PLoS ONE, Vol 16, Iss 2, p e0247489 (2021)

The gene SON is on human chromosome 21 (21q22.11) and is thought to be associated with hematopoietic disorders that accompany Down syndrome. Additionally, SON is an RNA splicing factor that plays a role in the transcription of leukemia-associated gen

Externí odkaz: https://doaj.org/article/2775cdd6dec04c78955c0ec0349d1b39

son is necessary for proper vertebrate blood development

Autor: Illiana Cajias, Jung-Hyun Kim, David L. Stachura, Eun-Young Erin Ahn, Isabella L. Engbretson, Rebecca L. Belmonte

Publikováno v: PLoS ONE
PLoS ONE, Vol 16, Iss 2, p e0247489 (2021)

The gene SON is on human chromosome 21 (21q22.11) and is thought to be associated with hematopoietic disorders that accompany Down syndrome. Additionally, SON is an RNA splicing factor that plays a role in the transcription of leukemia-associated gen

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2d8803c029eb656b85e8533d10f34837
http://europepmc.org/articles/PMC7906411

De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome

Autor: Ssang-Taek Lim, Helger G. Yntema, Tara Funari, Alexander P.A. Stegmann, Daniel G. MacArthur, Jung-Hyun Kim, Bert B.A. de Vries, Alyson Krokosky, Joost Nicolai, Sha Tang, Serge Romana, Megan T. Cho, Joris A. Veltman, Berivan Baskin, Vandana Shashi, Clesson Turner, Deepali N. Shinde, Maja Hempel, Franco Laccone, Lisenka E.L.M. Vissers, Richard M. Myers, Grazia M.S. Mancini, Daniëlle G.M. Bosch, Eun-Young Erin Ahn, Tamison Jewett, Ganka Douglas, Margot R.F. Reijnders, Eun Young Park, Axel Neu, Dong-Er Zhang, Joshua K. Stone, Davor Lessel, Connie T.R.M. Stumpel, Helga Rehder, Christopher T. Gordon, Luis Rohena, Laurie B. Owen, Dima El-Khechen, Jana Behunova, Tim M. Strom, Julie Vogt, Andrea H. Seeley, Kirsty McWalter, Nuria C. Bramswig, Margje Sinnema, Marlène Rio, Natalie Hauser, Rebecca L. Belmonte, Servi J. C. Stevens, Kristin Lindstrom, Han G. Brunner, Fanny Kortüm, Kelly Schoch, Amber Begtrup, Kristine K. Bachman, Paula A. Bubulya, Stephanie L. Santoro, Jos M. T. Draaisma, Dagmar Wieczorek, Xu Yao, David L. Stachura, Slavé Petrovski, Gregory R. Wilson, David Traver

Publikováno v: American Journal of Human Genetics, 99, 711-9
American Journal of Human Genetics, 99, 3, pp. 711-9
Am. J. Hum. Genet. 99, 711-719 (2016)
American Journal of Human Genetics, 99(3), 711-719. Cell Press

Contains fulltext : 167701.pdf (Publisher’s version ) (Open Access) The overall understanding of the molecular etiologies of intellectual disability (ID) and developmental delay (DD) is increasing as next-generation sequencing technologies identify

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::24e396932df67a7298787b488ed1f431
https://doi.org/10.1016/j.ajhg.2016.06.029

Sexual Dimorphisms in Innate Immunity and Responses to Infection in Drosophila melanogaster.

Autor: Belmonte, Rebecca L., Corbally, Mary-Kate, Duneau, David F., Regan, Jennifer C.

Publikováno v: Frontiers in Immunology; 1/31/2020, Vol. 11, p1-18, 18p