Detalhe da pesquisa
1.
Clinical, genetic, and functional characterization of the glycine receptor ß-subunit A455P variant in a family affected by hyperekplexia syndrome.
J Biol Chem;
298(7): 102018, 2022 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35526563
2.
Bi-allelic Mutations in FAM149B1 Cause Abnormal Primary Cilium and a Range of Ciliopathy Phenotypes in Humans.
Am J Hum Genet;
104(4): 731-737, 2019 04 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30905400
3.
Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane trafficking.
Brain;
144(3): 769-780, 2021 04 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33764426
4.
Strain-based and sex-biased differences in adrenal and pancreatic gene expression between KK/HlJ and C57BL/6 J mice.
BMC Genomics;
22(1): 180, 2021 Mar 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33711921
5.
Improved delivery of miR-1296 loaded cationic nanoliposomes for effective suppression of triple negative breast cancer.
Saudi Pharm J;
29(5): 446-455, 2021 May.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34135670
6.
An atypical pulmonary fibrosis is associated with co-inheritance of mutations in the calcium binding protein genes S100A3 and S100A13.
Eur Respir J;
54(1)2019 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31073086
7.
A null mutation in MICU2 causes abnormal mitochondrial calcium homeostasis and a severe neurodevelopmental disorder.
Brain;
140(11): 2806-2813, 2017 Nov 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29053821
8.
Human cancer: is it linked to dysfunctional lipid metabolism?
Biochim Biophys Acta;
1850(2): 352-64, 2015 Feb.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25450488
9.
IL-12 immunotherapy of Braf(V600E)-induced papillary thyroid cancer in a mouse model.
Lab Invest;
96(1): 89-97, 2016 Jan.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26501867
10.
ISCA2 mutation causes infantile neurodegenerative mitochondrial disorder.
J Med Genet;
52(3): 186-94, 2015 Mar.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25539947
11.
Effect of aliskiren and carvedilol on expression of Ca(2+)/calmodulin-dependent protein kinase II δ-subunit isoforms in cardiac hypertrophy rat model.
Toxicol Mech Methods;
26(2): 122-31, 2016 Feb.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26982530
12.
KRAS(G12D)-mediated oncogenic transformation of thyroid follicular cells requires long-term TSH stimulation and is regulated by SPRY1.
Lab Invest;
95(11): 1269-77, 2015 Nov.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26146959
13.
POC1A truncation mutation causes a ciliopathy in humans characterized by primordial dwarfism.
Am J Hum Genet;
91(2): 330-6, 2012 Aug 10.
Artigo
em Inglês
| MEDLINE
| ID: mdl-22840364
14.
Identification of the tetraspanin CD82 as a new barrier to xenotransplantation.
J Immunol;
191(5): 2796-805, 2013 Sep 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23872050
15.
Increased CYP24A1 expression is associated with BRAF(V600E) mutation and advanced stages in papillary thyroid carcinoma.
Clin Endocrinol (Oxf);
81(1): 109-16, 2014 Jul.
Artigo
em Inglês
| MEDLINE
| ID: mdl-24382015
16.
Loss of ERLIN2 function leads to juvenile primary lateral sclerosis.
Ann Neurol;
72(4): 510-6, 2012 Oct.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23109145
17.
The interplay of intracellular calcium and zinc ions in response to electric field stimulation in primary rat cortical neurons in vitro.
Front Cell Neurosci;
17: 1118335, 2023.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37180947
18.
The immunoglobulin A isotype of the Arabian camel (Camelus dromedarius) preserves the dualistic structure of unconventional single-domain and canonical heavy chains.
Front Immunol;
14: 1289769, 2023.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38162642
19.
Wild-type S100A3 and S100A13 restore calcium homeostasis and mitigate mitochondrial dysregulation in pulmonary fibrosis patient-derived cells.
Front Cell Dev Biol;
11: 1282868, 2023.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38099297
20.
A mutation in sigma-1 receptor causes juvenile amyotrophic lateral sclerosis.
Ann Neurol;
70(6): 913-9, 2011 Dec.
Artigo
em Inglês
| MEDLINE
| ID: mdl-21842496