Detalhe da pesquisa
1.
Caenorhabditis elegans provides an efficient drug screening platform for GNAO1-related disorders and highlights the potential role of caffeine in controlling dyskinesia.
Hum Mol Genet
; 31(6): 929-941, 2022 03 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-34622282
2.
A Recurrent Gain-of-Function Mutation in CLCN6, Encoding the ClC-6 Cl-/H+-Exchanger, Causes Early-Onset Neurodegeneration.
Am J Hum Genet
; 107(6): 1062-1077, 2020 12 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33217309
3.
Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum.
Am J Hum Genet
; 107(3): 499-513, 2020 09 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32721402
4.
Formulation matters! A spectroscopic and molecular dynamics investigation on the peptide CIGB552 as itself and in its therapeutical formulation.
J Pept Sci
; 28(1): e3356, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-34114297
5.
Mutations in KCNK4 that Affect Gating Cause a Recognizable Neurodevelopmental Syndrome.
Am J Hum Genet
; 103(4): 621-630, 2018 10 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30290154
6.
Compound heterozygosity for PTPN11 variants in a subject with Noonan syndrome provides insights into the mechanism of SHP2-related disorders.
Clin Genet
; 99(3): 457-461, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33354767
7.
Pathogenic PTPN11 variants involving the poly-glutamine Gln255 -Gln256 -Gln257 stretch highlight the relevance of helix B in SHP2's functional regulation.
Hum Mutat
; 41(6): 1171-1182, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32112654
8.
Aggregation propensity of therapeutic fibrin-homing pentapeptides: insights from experiments and molecular dynamics simulations.
Soft Matter
; 16(44): 10169-10179, 2020 Nov 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-33165494
9.
Structural Determinants of Phosphopeptide Binding to the N-Terminal Src Homology 2 Domain of the SHP2 Phosphatase.
J Chem Inf Model
; 60(6): 3157-3171, 2020 06 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-32395997
10.
Clinical and functional characterization of two novel ZBTB20 mutations causing Primrose syndrome.
Hum Mutat
; 39(7): 959-964, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29737001
11.
Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like Facies.
Am J Hum Genet
; 96(5): 816-25, 2015 May 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-25865493
12.
Structural, Functional, and Clinical Characterization of a Novel PTPN11 Mutation Cluster Underlying Noonan Syndrome.
Hum Mutat
; 38(4): 451-459, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28074573
13.
The Influence of pH on the Scleroglucan and Scleroglucan/Borax Systems.
Molecules
; 22(3)2017 Mar 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-28282944
14.
Molecular Dynamics Simulations of the Host Defense Peptide Temporin L and Its Q3K Derivative: An Atomic Level View from Aggregation in Water to Bilayer Perturbation.
Molecules
; 22(7)2017 Jul 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-28737669
15.
Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis.
Hum Mol Genet
; 23(16): 4315-27, 2014 Aug 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-24705357
16.
Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome.
Hum Mutat
; 36(11): 1080-7, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26173643
17.
A restricted spectrum of mutations in the SMAD4 tumor-suppressor gene underlies Myhre syndrome.
Am J Hum Genet
; 90(1): 161-9, 2012 Jan 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-22243968
18.
Novel SMAD4 mutation causing Myhre syndrome.
Am J Med Genet A
; 164A(7): 1835-40, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-24715504
19.
Aggregation propensity of Aib homo-peptides of different length: an insight from molecular dynamics simulations.
J Pept Sci
; 20(7): 494-507, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-24845474
20.
Counteracting effects operating on Src homology 2 domain-containing protein-tyrosine phosphatase 2 (SHP2) function drive selection of the recurrent Y62D and Y63C substitutions in Noonan syndrome.
J Biol Chem
; 287(32): 27066-77, 2012 Aug 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-22711529