Detalhe da pesquisa
1.
A novel FAM20C mutation causes a rare form of neonatal lethal Raine syndrome.
Am J Med Genet A
; 179(9): 1866-1871, 2019 09.
Artigo
Inglês
| MEDLINE | ID: mdl-31297960
2.
Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate-binding region.
Epilepsia
; 60(3): 406-418, 2019 03.
Artigo
Inglês
| MEDLINE | ID: mdl-30682224
3.
ExoLocator--an online view into genetic makeup of vertebrate proteins.
Nucleic Acids Res
; 42(Database issue): D879-81, 2014 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-24271393
4.
Active site coupling in PDE:PKA complexes promotes resetting of mammalian cAMP signaling.
Biophys J
; 107(6): 1426-40, 2014 Sep 16.
Artigo
Inglês
| MEDLINE | ID: mdl-25229150
5.
Cube-DB: detection of functional divergence in human protein families.
Nucleic Acids Res
; 40(Database issue): D490-4, 2012 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-22139934
6.
WLS-dependent secretion of WNT3A requires Ser209 acylation and vacuolar acidification.
J Cell Sci
; 123(Pt 19): 3357-67, 2010 Oct 01.
Artigo
Inglês
| MEDLINE | ID: mdl-20826466
7.
Distinct faces of the Ku heterodimer mediate DNA repair and telomeric functions.
Nat Struct Mol Biol
; 14(4): 301-7, 2007 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-17351632
8.
deconSTRUCT: general purpose protein database search on the substructure level.
Nucleic Acids Res
; 38(Web Server issue): W590-4, 2010 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-20522512
9.
Reduced representation of protein structure: implications on efficiency and scope of detection of structural similarity.
BMC Bioinformatics
; 11: 155, 2010 Mar 26.
Artigo
Inglês
| MEDLINE | ID: mdl-20338066
10.
pFlexAna: detecting conformational changes in remotely related proteins.
Nucleic Acids Res
; 36(Web Server issue): W246-51, 2008 Jul 01.
Artigo
Inglês
| MEDLINE | ID: mdl-18477634
11.
Cancer-associated mutations in the ribosomal protein L5 gene dysregulate the HDM2/p53-mediated ribosome biogenesis checkpoint.
Oncogene
; 39(17): 3443-3457, 2020 04.
Artigo
Inglês
| MEDLINE | ID: mdl-32108164
12.
The C-Terminal Extension Unique to the Long Isoform of the Shelterin Component TIN2 Enhances Its Interaction with TRF2 in a Phosphorylation- and Dyskeratosis Congenita Cluster-Dependent Fashion.
Mol Cell Biol
; 38(12)2018 06 15.
Artigo
Inglês
| MEDLINE | ID: mdl-29581185
13.
Utility of rapid whole-exome sequencing in the diagnosis of Niemann-Pick disease type C presenting with fetal hydrops and acute liver failure.
Cold Spring Harb Mol Case Stud
; 3(6)2017 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-28802248
14.
A defect in the inner kinetochore protein CENPT causes a new syndrome of severe growth failure.
PLoS One
; 12(12): e0189324, 2017.
Artigo
Inglês
| MEDLINE | ID: mdl-29228025
15.
Rank information: a structure-independent measure of evolutionary trace quality that improves identification of protein functional sites.
Proteins
; 65(1): 111-23, 2006 Oct 01.
Artigo
Inglês
| MEDLINE | ID: mdl-16894615
16.
Role of transmembrane domain/transmembrane domain interfaces of P-glycoprotein (ABCB1) in solute transport. Convergent information from photoaffinity labeling, site directed mutagenesis and in silico importance prediction.
Curr Med Chem
; 13(7): 793-805, 2006.
Artigo
Inglês
| MEDLINE | ID: mdl-16611068
17.
An accurate, sensitive, and scalable method to identify functional sites in protein structures.
J Mol Biol
; 326(1): 255-61, 2003 Feb 07.
Artigo
Inglês
| MEDLINE | ID: mdl-12547207
18.
Cube - an online tool for comparison and contrasting of protein sequences.
PLoS One
; 8(11): e79480, 2013.
Artigo
Inglês
| MEDLINE | ID: mdl-24363790
19.
TRF2 interaction with Ku heterotetramerization interface gives insight into c-NHEJ prevention at human telomeres.
Cell Rep
; 5(1): 194-206, 2013 Oct 17.
Artigo
Inglês
| MEDLINE | ID: mdl-24095731
20.
Defining the phenotype in congenital disorder of glycosylation due to ALG1 mutations.
Pediatrics
; 130(4): e1034-9, 2012 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-22966035