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1.
Histone H3.3G34-Mutant Interneuron Progenitors Co-opt PDGFRA for Gliomagenesis.
Cell
; 183(6): 1617-1633.e22, 2020 12 10.
Article
in English
| MEDLINE | ID: mdl-33259802
2.
De novo TRPV4 Leu619Pro variant causes a new channelopathy characterised by giant cell lesions of the jaws and skull, skeletal abnormalities and polyneuropathy.
J Med Genet
; 59(3): 305-312, 2022 03.
Article
in English
| MEDLINE | ID: mdl-33685999
3.
Assorted dysfunctions of endosomal alkali cation/proton exchanger SLC9A6 variants linked to Christianson syndrome.
J Biol Chem
; 295(20): 7075-7095, 2020 05 15.
Article
in English
| MEDLINE | ID: mdl-32277048
4.
ZBTB7B (ThPOK) Is Required for Pathogenesis of Cerebral Malaria and Protection against Pulmonary Tuberculosis.
Infect Immun
; 88(2)2020 01 22.
Article
in English
| MEDLINE | ID: mdl-31792077
5.
A potential gain-of-function variant of SLC9A6 leads to endosomal alkalinization and neuronal atrophy associated with Christianson Syndrome.
Neurobiol Dis
; 121: 187-204, 2019 01.
Article
in English
| MEDLINE | ID: mdl-30296617
6.
Plasticity of Aminoglycoside Binding to Antibiotic Kinase APH(2â³)-Ia.
Antimicrob Agents Chemother
; 62(7)2018 07.
Article
in English
| MEDLINE | ID: mdl-29661878
7.
The role of conformational flexibility in Baeyer-Villiger monooxygenase catalysis and structure.
Biochim Biophys Acta
; 1864(12): 1641-1648, 2016 12.
Article
in English
| MEDLINE | ID: mdl-27570148
8.
Derivatives of mesoxalic acid block translocation of HIV-1 reverse transcriptase.
J Biol Chem
; 290(3): 1474-84, 2015 Jan 16.
Article
in English
| MEDLINE | ID: mdl-25355312
9.
A recurrent PDGFRB mutation causes familial infantile myofibromatosis.
Am J Hum Genet
; 92(6): 996-1000, 2013 Jun 06.
Article
in English
| MEDLINE | ID: mdl-23731537
10.
Functional characterization of the human dendritic cell immunodeficiency associated with the IRF8(K108E) mutation.
Blood
; 124(12): 1894-904, 2014 Sep 18.
Article
in English
| MEDLINE | ID: mdl-25122610
11.
Germline and somatic FGFR1 abnormalities in dysembryoplastic neuroepithelial tumors.
Acta Neuropathol
; 131(6): 847-63, 2016 06.
Article
in English
| MEDLINE | ID: mdl-26920151
12.
Substrate-dependent switching of the allosteric binding mechanism of a dimeric enzyme.
Nat Chem Biol
; 10(11): 937-42, 2014 Nov.
Article
in English
| MEDLINE | ID: mdl-25218742
13.
Overlapping and distinct roles of Aspergillus fumigatus UDP-glucose 4-epimerases in galactose metabolism and the synthesis of galactose-containing cell wall polysaccharides.
J Biol Chem
; 289(3): 1243-56, 2014 Jan 17.
Article
in English
| MEDLINE | ID: mdl-24257745
14.
Inhibition of outer membrane proteases of the omptin family by aprotinin.
Infect Immun
; 83(6): 2300-11, 2015 Jun.
Article
in English
| MEDLINE | ID: mdl-25824836
15.
Identification of the adenovirus E4orf4 protein binding site on the B55α and Cdc55 regulatory subunits of PP2A: Implications for PP2A function, tumor cell killing and viral replication.
PLoS Pathog
; 9(11): e1003742, 2013.
Article
in English
| MEDLINE | ID: mdl-24244166
16.
Probing the molecular and structural elements of ligands binding to the active site versus an allosteric pocket of the human farnesyl pyrophosphate synthase.
Bioorg Med Chem Lett
; 25(5): 1117-23, 2015 Mar 01.
Article
in English
| MEDLINE | ID: mdl-25630225
17.
IRF8 mutations and human dendritic-cell immunodeficiency.
N Engl J Med
; 365(2): 127-38, 2011 Jul 14.
Article
in English
| MEDLINE | ID: mdl-21524210
18.
Structural basis for dual nucleotide selectivity of aminoglycoside 2''-phosphotransferase IVa provides insight on determinants of nucleotide specificity of aminoglycoside kinases.
J Biol Chem
; 287(16): 13094-102, 2012 Apr 13.
Article
in English
| MEDLINE | ID: mdl-22371504
19.
Biphosphoglycerate Mutase: A Novel Therapeutic Target for Malaria?
Transfus Med Rev
; 37(3): 150748, 2023 07.
Article
in English
| MEDLINE | ID: mdl-37827586
20.
Association of novel mutation in TRPV4 with familial nonsyndromic craniosynostosis with complete penetrance and variable expressivity.
J Neurosurg Pediatr
; 31(6): 584-592, 2023 06 01.
Article
in English
| MEDLINE | ID: mdl-36905673