Detalhe da pesquisa
1.
A variant in human AIOLOS impairs adaptive immunity by interfering with IKAROS.
Nat Immunol
; 22(7): 893-903, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34155405
2.
Inborn Errors of RNA Lariat Metabolism in Humans with Brainstem Viral Infection.
Cell
; 172(5): 952-965.e18, 2018 02 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-29474921
3.
Human STAT1 gain of function with chronic mucocutaneous candidiasis: A comprehensive review for strengthening the connection between bedside observations and laboratory research.
Immunol Rev
; 322(1): 81-97, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38084635
4.
Extreme accumulation of ammonia on electroreduced mackinawite: An abiotic ammonia storage mechanism in early ocean hydrothermal systems.
Proc Natl Acad Sci U S A
; 120(41): e2303302120, 2023 Oct 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37782799
5.
Achaete-scute family bHLH transcription factor 2 activation promotes hepatoblastoma progression.
Cancer Sci
; 115(3): 847-858, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38183173
6.
Identification of discriminative gene-level and protein-level features associated with pathogenic gain-of-function and loss-of-function variants.
Am J Hum Genet
; 108(12): 2301-2318, 2021 12 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34762822
7.
Clinical, immunological, and genetic description of a Mexican cohort of patients with DOCK8 deficiency.
Pediatr Allergy Immunol
; 35(2): e14073, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38351896
8.
Low solid content mouldable chitin physical hydrogel prepared by atypical rupture-free swelling.
Soft Matter
; 20(6): 1245-1252, 2024 Feb 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-38231553
9.
Real-world experience with calcitonin gene-related peptide-targeted antibodies for migraine prevention: a retrospective observational cohort study at two Japanese headache centers.
BMC Neurol
; 24(1): 32, 2024 Jan 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-38238659
10.
Rapid Freezing and Cryo-SEM-EDS Imaging of Foraminifera (Unicellular Eukaryotes) Using a Conductive Viscous Cryogenic Glue.
Microsc Microanal
; 30(2): 359-367, 2024 Apr 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-38578298
11.
Novel STAT1 Variants in Japanese Patients with Isolated Mendelian Susceptibility to Mycobacterial Diseases.
J Clin Immunol
; 43(2): 466-478, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36336768
12.
Isolated Chronic Mucocutaneous Candidiasis due to a Novel Duplication Variant of IL17RC.
J Clin Immunol
; 44(1): 18, 2023 12 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-38129603
13.
Fatal COVID-19 Infection in Two Children with STAT1 Gain-of-Function.
J Clin Immunol
; 44(1): 20, 2023 12 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-38129739
14.
Development of a Peptide Sensor Derived from Human ACE2 for Fluorescence Polarization Assays of the SARS-CoV-2 Receptor Binding Domain.
Anal Chem
; 95(15): 6198-6202, 2023 04 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-37028948
15.
Age-specific incidence of joint disease in paediatric patients with haemophilia: A single-centre real-world outcome based on consecutive US examination.
Haemophilia
; 29(5): 1359-1365, 2023 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-37639381
16.
Development of a Gadolinium-Boron-Conjugated Albumin for MRI-Guided Neutron Capture Therapy.
Mol Pharm
; 20(12): 6311-6318, 2023 Dec 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37909734
17.
Novel partial deletions, frameshift and missense mutations of CSF1R in patents with CSF1R-related leukoencephalopathy.
Eur J Neurol
; 30(7): 1861-1870, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36943150
18.
Genetic, Immunological, and Clinical Features of 32 Patients with Autosomal Recessive STAT1 Deficiency.
J Immunol
; 207(1): 133-152, 2021 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34183371
19.
Catalytically inactive Cas9 impairs DNA replication fork progression to induce focal genomic instability.
Nucleic Acids Res
; 49(2): 954-968, 2021 01 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-33398345
20.
Enhanced osteoclastogenesis in patients with MSMD due to impaired response to IFN-γ.
J Allergy Clin Immunol
; 149(1): 252-261.e6, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34176646