Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Alexandria T.M. Blackburn"'
Autor:
Rachel K. Miller, Ji Yeon Hong, Alexandria T.M. Blackburn, Pierre D. McCrea, Hong Ji, Jessica Zapata, Seung Min Bae, Ryan Baumert, Hee Jin Nam
Publikováno v:
Biochem Biophys Res Commun
Vertebrate beta-catenin plays a key role as a transducer of canonical-Wnt signals. We earlier reported that, similar to beta-catenin, the cytoplasmic signaling pool of p120-catenin-isoform1 is stabilized in response to canonical-Wnt signals. To obtai
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b1e057db7942cda5a9bce4e9e505036a
https://doi.org/10.1016/j.bbrc.2021.05.043
https://doi.org/10.1016/j.bbrc.2021.05.043
Publikováno v:
Disease Models & Mechanisms, Vol 12, Iss 4 (2019)
Congenital anomalies of the kidney and urinary tract (CAKUT) occur in ∼1/500 live births and are a leading cause of pediatric kidney failure. With an average wait time of 3-5 years for a kidney transplant, the need is high for the development of ne
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f999033fb3d41847addd8041690e7be7
https://doi.org/10.1242/dmm.038604
https://doi.org/10.1242/dmm.038604
Autor:
Jill A. Rosenfeld, Mir Reza Bekheirnia, Ian D. Krantz, Suneeta Madan-Khetarpal, Angela E. Scheuerle, Dolores J. Lamb, David Rodriguez-Buritica, Nasim Bekheirnia, Aisha Al Shamsi, Yaping Yang, Ghayda M. Mirzaa, Yuxiao Xu, Rachel K. Miller, Mauricio R. Delgado, Patricia G. Wheeler, Matthew N. Bainbridge, Natalia Gomez-Ospina, Helen Rankin Willsey, Mark E. Corkins, Alexandria T.M. Blackburn, Lihadh Al-Gazali, Michael C. Braun, Pengfei Liu, Vanessa C. Uma, Mary K. Kukolich, Louanne Hudgins, Hsiao-Tuan Chao, Fernando Scaglia, Christine M. Eng
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics
Purpose: Haploinsufficiency of DYRK1A causes a recognizable clinical syndrome. The goal of this paper is to investigate congenital anomalies of the kidney and urinary tract (CAKUT) and genital defects (GD) in patients with DYRK1A variants. Methods: A
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::23c0dc519f0fb5067a8fc4735559d11c
https://pubmed.ncbi.nlm.nih.gov/31857706
https://pubmed.ncbi.nlm.nih.gov/31857706
Autor:
Mir Reza Bekheirnia, Ian D. Krantz, Suneeta Madan-Khetarpal, David Rodriguez-Buritica, Lihadh Al-Gazali, Louanne Hudgins, Hsiao-Tuan Chao, Rachel K. Miller, Matthew N. Bainbridge, Christine M. Eng, Fernando Scaglia, Patricia G. Wheeler, Mary K. Kukolich, Ghayda M. Mirzaa, Michael C. Braun, Natalia Gomez-Ospina, Alexandria T.M. Blackburn, Nasim Bekheirnia, Yaping Yang, Vanessa C. Uma, Mauricio R. Delgado, Angela E. Scheuerle, Dolores J. Lamb, Jill A. Rosenfeld, Pengfei Liu, Aisha Al Shamsi
PurposeHaploinsufficiency of DYRK1A causes a recognizable clinical syndrome. The goal of this paper is to investigate congenital anomalies of the kidney and urinary tract (CAKUT) and genital defects (GD) in patients with DYRK1A mutations.MethodsA lar
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e209a48169ae093584c2cbea33d9a867
