Detalhe da pesquisa
1.
Bi-allelic Pathogenic Variants in HS2ST1 Cause a Syndrome Characterized by Developmental Delay and Corpus Callosum, Skeletal, and Renal Abnormalities.
Am J Hum Genet
; 107(6): 1044-1061, 2020 12 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33159882
2.
Biallelic CACNA2D1 loss-of-function variants cause early-onset developmental epileptic encephalopathy.
Brain
; 145(8): 2721-2729, 2022 08 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-35293990
3.
Biallelic FRA10AC1 variants cause a neurodevelopmental disorder with growth retardation.
Brain
; 145(4): 1551-1563, 2022 05 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-34694367
4.
A homozygous missense variant in CACNB4 encoding the auxiliary calcium channel beta4 subunit causes a severe neurodevelopmental disorder and impairs channel and non-channel functions.
PLoS Genet
; 16(3): e1008625, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32176688
5.
A homozygous hypomorphic BNIP1 variant causes an increase in autophagosomes and reduced autophagic flux and results in a spondylo-epiphyseal dysplasia.
Hum Mutat
; 43(5): 625-642, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35266227
6.
RIT1 controls actin dynamics via complex formation with RAC1/CDC42 and PAK1.
PLoS Genet
; 14(5): e1007370, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29734338
7.
The homozygous variant c.797G>A/p.(Cys266Tyr) in PISD is associated with a Spondyloepimetaphyseal dysplasia with large epiphyses and disturbed mitochondrial function.
Hum Mutat
; 40(3): 299-309, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30488656
8.
MCM complex members MCM3 and MCM7 are associated with a phenotypic spectrum from Meier-Gorlin syndrome to lipodystrophy and adrenal insufficiency.
Eur J Hum Genet
; 29(7): 1110-1120, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33654309
9.
Anti-proliferative Effect of C3 Exoenzyme in Fibroblasts is Mediated by c-Jun Phosphorylation.
J Mol Signal
; 12: 1, 2017 Apr 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30210577
10.
C3 exoenzyme impairs cell proliferation and apoptosis by altering the activity of transcription factors.
Naunyn Schmiedebergs Arch Pharmacol
; 389(9): 1021-31, 2016 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-27351882
11.
Development of an online-SPE-LC-MS method for the investigation of the intestinal absorption of 2-amino-1-methyl-6-phenylimidazo[4,5-b]pyridine (PHIP) and its bacterial metabolite PHIP-M1 in a Caco-2 Transwell system.
Food Chem
; 166: 537-543, 2015 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-25053091
12.
Uptake of clostridium botulinum C3 exoenzyme into intact HT22 and J774A.1 cells.
Toxins (Basel)
; 7(2): 380-95, 2015 Feb 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-25648844
13.
Binding of Clostridium botulinum C3 exoenzyme to intact cells.
Naunyn Schmiedebergs Arch Pharmacol
; 387(6): 523-32, 2014 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-24584821