Detalhe da pesquisa
1.
The nutrient-responsive CDK Pho85 primes the Sch9 kinase for its activation by TORC1.
PLoS Genet
; 19(2): e1010641, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36791155
2.
Haploinsufficiency of the Sin3/HDAC corepressor complex member SIN3B causes a syndromic intellectual disability/autism spectrum disorder.
Am J Hum Genet
; 108(5): 929-941, 2021 05 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33811806
3.
CAMTA1-related disorder: Phenotypic and molecular characterization of 26 new individuals and literature review.
Clin Genet
; 105(3): 294-301, 2024 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38044714
4.
Novel dynamics of human mucociliary differentiation revealed by single-cell RNA sequencing of nasal epithelial cultures.
Development
; 146(20)2019 10 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-31558434
5.
Structural mapping of GABRB3 variants reveals genotype-phenotype correlations.
Genet Med
; 24(3): 681-693, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34906499
6.
A Single-Cell Atlas of the Human Healthy Airways.
Am J Respir Crit Care Med
; 202(12): 1636-1645, 2020 12 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-32726565
7.
Deficiency of the Thyroid Hormone Transporter Monocarboxylate Transporter 8 in Neural Progenitors Impairs Cellular Processes Crucial for Early Corticogenesis.
J Neurosci
; 37(48): 11616-11631, 2017 11 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-29109240
8.
pH homeostasis in yeast; the phosphate perspective.
Curr Genet
; 64(1): 155-161, 2018 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-28856407
9.
The TORC1-Sch9 pathway as a crucial mediator of chronological lifespan in the yeast Saccharomyces cerevisiae.
FEMS Yeast Res
; 18(5)2018 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29788208
10.
Eight further individuals with intellectual disability and epilepsy carrying bi-allelic CNTNAP2 aberrations allow delineation of the mutational and phenotypic spectrum.
J Med Genet
; 53(12): 820-827, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27439707
11.
A second case of Okamoto syndrome caused by HNRNPK mutation.
Am J Med Genet A
; 182(6): 1537-1539, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32222014
12.
Snf1/AMPK fine-tunes TORC1 signaling in response to glucose starvation.
Elife
; 122023 02 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36749016
13.
The MIR34B/C genomic region contains multiple potential regulators of multiciliogenesis.
FEBS Lett
; 597(12): 1623-1637, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37102425
14.
ASC1 complex related conditions: Two novel paediatric patients with TRIP4 pathogenic variants and review of literature.
Eur J Med Genet
; 65(4): 104469, 2022 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-35276412
15.
Coordinated glucose-induced Ca2+ and pH responses in yeast Saccharomyces cerevisiae.
Cell Calcium
; 100: 102479, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34610487
16.
The Role of Sch9 and the V-ATPase in the Adaptation Response to Acetic Acid and the Consequences for Growth and Chronological Lifespan.
Microorganisms
; 9(9)2021 Sep 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34576766
17.
Single-cell meta-analysis of SARS-CoV-2 entry genes across tissues and demographics.
Nat Med
; 27(3): 546-559, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33654293
18.
pH homeostasis links the nutrient sensing PKA/TORC1/Sch9 ménage-à-trois to stress tolerance and longevity.
Microb Cell
; 5(3): 119-136, 2018 Jan 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-29487859
19.
Expanding the phenotypic spectrum associated with OPHN1 mutations: Report of 17 individuals with intellectual disability but no cerebellar hypoplasia.
Eur J Med Genet
; 61(8): 442-450, 2018 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-29510240
20.
CDC20B is required for deuterosome-mediated centriole production in multiciliated cells.
Nat Commun
; 9(1): 4668, 2018 11 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30405130