Detalhe da pesquisa
1.
Rescue of ΔF508-CFTR trafficking via a GRASP-dependent unconventional secretion pathway.
Cell;
146(5): 746-60, 2011 Sep 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-21884936
2.
Syndromic craniosynostosis caused by a novel missense variant in MAP4K4: Expanding the genotype-phenotype relationship in RASopathies.
Clin Genet;
2024 Apr 28.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38679877
3.
LRRC6 regulates biogenesis of motile cilia by aiding FOXJ1 translocation into the nucleus.
Cell Commun Signal;
21(1): 142, 2023 06 16.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37328841
4.
Differential genetic diagnoses of adult post-lingual hearing loss according to the audiogram pattern and novel candidate gene evaluation.
Hum Genet;
141(3-4): 915-927, 2022 Apr.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34519870
5.
Molecular Characterization of Biliary Tract Cancer Predicts Chemotherapy and Programmed Death 1/Programmed Death-Ligand 1 Blockade Responses.
Hepatology;
74(4): 1914-1931, 2021 10.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33884649
6.
Harnessing GLUT1-Targeted Pro-oxidant Ascorbate for Synergistic Phototherapeutics.
Angew Chem Int Ed Engl;
61(17): e202110832, 2022 04 19.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35142018
7.
Targeting mutant KRAS with CRISPR-Cas9 controls tumor growth.
Genome Res;
2018 Jan 11.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29326299
8.
Natural killer cell activity is a risk factor for the recurrence risk after curative treatment of hepatocellular carcinoma.
BMC Gastroenterol;
21(1): 258, 2021 Jun 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34118869
9.
ZMYND10 stabilizes intermediate chain proteins in the cytoplasmic pre-assembly of dynein arms.
PLoS Genet;
14(3): e1007316, 2018 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29601588
10.
ADCK4 Deficiency Destabilizes the Coenzyme Q Complex, Which Is Rescued by 2,4-Dihydroxybenzoic Acid Treatment.
J Am Soc Nephrol;
31(6): 1191-1211, 2020 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32381600
11.
Unconventional secretion of transmembrane proteins.
Semin Cell Dev Biol;
83: 59-66, 2018 11.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29580969
12.
Bicarbonate permeation through anion channels: its role in health and disease.
Pflugers Arch;
472(8): 1003-1018, 2020 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32621085
13.
Unconventional protein secretion - new insights into the pathogenesis and therapeutic targets of human diseases.
J Cell Sci;
131(12)2018 06 25.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29941450
14.
Identification of XAF1-MT2A mutual antagonism as a molecular switch in cell-fate decisions under stressful conditions.
Proc Natl Acad Sci U S A;
114(22): 5683-5688, 2017 05 30.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28507149
15.
Short-term benefits of balneotherapy for patients with chronic pelvic pain: a pilot study in Korea.
J Obstet Gynaecol;
40(4): 520-525, 2020 May.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31455176
16.
A recurrent mutation in KCNQ4 in Korean families with nonsyndromic hearing loss and rescue of the channel activity by KCNQ activators.
Hum Mutat;
40(3): 335-346, 2019 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30556268
17.
Molecular mechanism of pancreatic and salivary gland fluid and HCO3 secretion.
Physiol Rev;
92(1): 39-74, 2012 Jan.
Artigo
em Inglês
| MEDLINE
| ID: mdl-22298651
18.
Targeting Heterogeneous Tumors Using a Multifunctional Molecular Prodrug.
J Am Chem Soc;
141(39): 15611-15618, 2019 10 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31509395
19.
Mutations in SLC26A1 Cause Nephrolithiasis.
Am J Hum Genet;
98(6): 1228-1234, 2016 06 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27210743
20.
Multi-locus pathogenic variation identified in a patient with craniosynostosis.
Am J Med Genet A;
194(5): e63521, 2024 May.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38126082