Detalhe da pesquisa
1.
A recurrent de novo splice site variant involving DNM1 exon 10a causes developmental and epileptic encephalopathy through a dominant-negative mechanism.
Am J Hum Genet
; 109(12): 2253-2269, 2022 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36413998
2.
Vasorin as an actor of bone turnover?
J Cell Physiol
; 2024 Mar 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-38504496
3.
Pithoviruses Are Invaded by Repeats That Contribute to Their Evolution and Divergence from Cedratviruses.
Mol Biol Evol
; 40(11)2023 Nov 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37950899
4.
Essential role for autophagy protein ATG7 in the maintenance of intestinal stem cell integrity.
Proc Natl Acad Sci U S A
; 117(20): 11136-11146, 2020 05 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-32371487
5.
TBC1D8B Loss-of-Function Mutations Lead to X-Linked Nephrotic Syndrome via Defective Trafficking Pathways.
Am J Hum Genet
; 104(2): 348-355, 2019 02 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30661770
6.
Mutations in DNAH17, Encoding a Sperm-Specific Axonemal Outer Dynein Arm Heavy Chain, Cause Isolated Male Infertility Due to Asthenozoospermia.
Am J Hum Genet
; 105(1): 198-212, 2019 07 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31178125
7.
Mutations in TTC29, Encoding an Evolutionarily Conserved Axonemal Protein, Result in Asthenozoospermia and Male Infertility.
Am J Hum Genet
; 105(6): 1148-1167, 2019 12 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31735292
8.
Microtubule cytoskeleton regulates Connexin 43 localization and cardiac conduction in cardiomyopathy caused by mutation in A-type lamins gene.
Hum Mol Genet
; 28(24): 4043-4052, 2019 12 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29893868
9.
Genetic diagnosis, sperm phenotype and ICSI outcome in case of severe asthenozoospermia with multiple morphological abnormalities of the flagellum.
Hum Reprod
; 36(11): 2848-2860, 2021 10 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-34529793
10.
Cofilin-1 phosphorylation catalyzed by ERK1/2 alters cardiac actin dynamics in dilated cardiomyopathy caused by lamin A/C gene mutation.
Hum Mol Genet
; 27(17): 3060-3078, 2018 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29878125
11.
Homozygous missense mutation L673P in adenylate kinase 7 (AK7) leads to primary male infertility and multiple morphological anomalies of the flagella but not to primary ciliary dyskinesia.
Hum Mol Genet
; 27(7): 1196-1211, 2018 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29365104
12.
Immune Modifications in Fetal Membranes Overlying the Cervix Precede Parturition in Humans.
J Immunol
; 198(3): 1345-1356, 2017 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28031337
13.
T Cell-Macrophage Fusion Triggers Multinucleated Giant Cell Formation for HIV-1 Spreading.
J Virol
; 91(24)2017 12 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-28978713
14.
Impaired mineral quality in dentin in X-linked hypophosphatemia.
Connect Tissue Res
; 59(sup1): 91-96, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-29745817
15.
MuSK frizzled-like domain is critical for mammalian neuromuscular junction formation and maintenance.
J Neurosci
; 35(12): 4926-41, 2015 Mar 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-25810523
16.
Corrigendum: Homozygous missense mutation L673P in adenylate kinase 7 (AK7) leads to primary male infertility and multiple morphological anomalies of the flagella but not to primary ciliary dyskinesia.
Hum Mol Genet
; 28(6): 1052, 2019 03 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30517620
17.
The FK506-binding protein FKBP52 in vitro induces aggregation of truncated Tau forms with prion-like behavior.
FASEB J
; 29(8): 3171-81, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-25888602
18.
Inhibiting glutamine uptake represents an attractive new strategy for treating acute myeloid leukemia.
Blood
; 122(20): 3521-32, 2013 Nov 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-24014241
19.
Nanotubular crosstalk with distressed cardiomyocytes stimulates the paracrine repair function of mesenchymal stem cells.
Stem Cells
; 32(1): 216-30, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24115309
20.
In-vitro effects of Thymus munbyanus essential oil and thymol on human sperm motility and function.
Reprod Biomed Online
; 31(3): 411-20, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-26194886