Detalhe da pesquisa
1.
Defective DNA Polymerase α-Primase Leads to X-Linked Intellectual Disability Associated with Severe Growth Retardation, Microcephaly, and Hypogonadism.
Am J Hum Genet
; 104(5): 957-967, 2019 05 02.
Artigo
Inglês
| MEDLINE | ID: mdl-31006512
2.
DTYMK is essential for genome integrity and neuronal survival.
Acta Neuropathol
; 143(2): 245-262, 2022 02.
Artigo
Inglês
| MEDLINE | ID: mdl-34918187
3.
Oral-facial-digital syndrome type I cells exhibit impaired DNA repair; unanticipated consequences of defective OFD1 outside of the cilia network.
Hum Mol Genet
; 26(1): 19-32, 2017 01 01.
Artigo
Inglês
| MEDLINE | ID: mdl-27798113
4.
Characterizing the functional consequences of haploinsufficiency of NELF-A (WHSC2) and SLBP identifies novel cellular phenotypes in Wolf-Hirschhorn syndrome.
Hum Mol Genet
; 21(10): 2181-93, 2012 May 15.
Artigo
Inglês
| MEDLINE | ID: mdl-22328085
5.
The consequences of structural genomic alterations in humans: genomic disorders, genomic instability and cancer.
Semin Cell Dev Biol
; 22(8): 875-85, 2011 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-21802523
6.
Liaisons between survivin and Plk1 during cell division and cell death.
J Biol Chem
; 285(29): 22592-604, 2010 Jul 16.
Artigo
Inglês
| MEDLINE | ID: mdl-20427271
7.
Identifying candidate genes for 2p15p16.1 microdeletion syndrome using clinical, genomic, and functional analysis.
JCI Insight
; 1(3): e85461, 2016 03 17.
Artigo
Inglês
| MEDLINE | ID: mdl-27699255
8.
Hypomorphism in human NSMCE2 linked to primordial dwarfism and insulin resistance.
J Clin Invest
; 124(9): 4028-38, 2014 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-25105364
9.
Meier-Gorlin syndrome and Wolf-Hirschhorn syndrome: two developmental disorders highlighting the importance of efficient DNA replication for normal development and neurogenesis.
DNA Repair (Amst)
; 12(8): 637-44, 2013 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-23706772
10.
Threonine 48 in the BIR domain of survivin is critical to its mitotic and anti-apoptotic activities and can be phosphorylated by CK2 in vitro.
Cell Cycle
; 10(3): 538-48, 2011 Feb 01.
Artigo
Inglês
| MEDLINE | ID: mdl-21252625
11.
CUL4B-deficiency in humans: understanding the clinical consequences of impaired Cullin 4-RING E3 ubiquitin ligase function.
Mech Ageing Dev
; 132(8-9): 366-73, 2011 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-21352845
12.
Interactions between the Nse3 and Nse4 components of the SMC5-6 complex identify evolutionarily conserved interactions between MAGE and EID Families.
PLoS One
; 6(2): e17270, 2011 Feb 25.
Artigo
Inglês
| MEDLINE | ID: mdl-21364888
13.
Understanding the impact of 1q21.1 copy number variant.
Orphanet J Rare Dis
; 6: 54, 2011 Aug 08.
Artigo
Inglês
| MEDLINE | ID: mdl-21824431
14.
Nuclear survivin has reduced stability and is not cytoprotective.
J Biol Chem
; 283(6): 3289-3296, 2008 Feb 08.
Artigo
Inglês
| MEDLINE | ID: mdl-18057009
15.
Separating the anti-apoptotic and mitotic roles of survivin.
J Biol Chem
; 281(44): 33450-6, 2006 Nov 03.
Artigo
Inglês
| MEDLINE | ID: mdl-16950794
16.
Molecular analysis of survivin isoforms: evidence that alternatively spliced variants do not play a role in mitosis.
J Biol Chem
; 281(2): 1286-95, 2006 Jan 13.
Artigo
Inglês
| MEDLINE | ID: mdl-16291752
17.
Lethality of glnD null mutations in Azotobacter vinelandii is suppressible by prevention of glutamine synthetase adenylylation.
Microbiology (Reading)
; 147(Pt 5): 1267-1276, 2001 May.
Artigo
Inglês
| MEDLINE | ID: mdl-11320130