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Biallelic Inactivating TUB Variants Cause Retinal Ciliopathy Impairing Biogenesis and the Structure of the Primary Cilium.
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- International Journal of Molecular Sciences, 2022, v. 23, n. 23, p. 14656, doi. 10.3390/ijms232314656
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- Article
IFN-γ and IL-4 differently regulate inducible NO synthase gene expression through IRF-1 modulation.
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- International Immunology, 2000, v. 12, n. 7, p. 977, doi. 10.1093/intimm/12.7.977
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- Article
STAT1 activation during monocyte to macrophage maturation: role of adhesion molecules.
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- International Immunology, 1999, v. 11, n. 7, p. 1075, doi. 10.1093/intimm/11.7.1075
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- Article
Immunological and hematological findings as major features in a patient with a new germline pathogenic CBL variant.
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- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 8, p. 1, doi. 10.1002/ajmg.a.63627
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- Article
Broadening the phenotypic spectrum of Beta3GalT6‐associated phenotypes.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 10, p. 3153, doi. 10.1002/ajmg.a.62399
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- Article
Congenital immunodeficiency in an individual with Wiedemann-Steiner syndrome due to a novel missense mutation in KMT2A.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 9, p. 2389, doi. 10.1002/ajmg.a.37681
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- Article
Mutations in ZBTB20 cause Primrose syndrome.
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- Nature Genetics, 2014, v. 46, n. 8, p. 815, doi. 10.1038/ng.3035
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- Article
Analysis of the Signal Transduction Pathway Leading to Human Immunodeficiency Virus-1-Induced Interferon Regulatory Factor-1 Upregulation.
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- Annals of the New York Academy of Sciences, 2004, v. 1030, n. 1, p. 187, doi. 10.1196/annals.1329.024
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- Article
On the Role of Interferon Regulatory Factors in HIV-1 Replication.
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- Annals of the New York Academy of Sciences, 2004, v. 1010, n. 1, p. 29, doi. 10.1196/annals.1299.005
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- Article
Etanercept as a successful therapy in autoinflammatory syndrome related to TRNT1 mutations: a case-based review.
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- Clinical Rheumatology, 2021, v. 40, n. 10, p. 4341, doi. 10.1007/s10067-021-05653-3
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- Article
Activation and repression of the 2-5A synthetase and p21 gene promoters by IRF-1 and IRF-2.
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- Oncogene, 1999, v. 18, n. 12, p. 2129, doi. 10.1038/sj.onc.1202536
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- Article
Reversing vemurafenib‐resistance in primary melanoma cells by combined romidepsin and type I IFN treatment through blocking of tumorigenic signals and induction of immunogenic effects.
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- International Journal of Cancer, 2023, v. 153, n. 5, p. 1080, doi. 10.1002/ijc.34602
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- Article
Skeletal abnormalities are common features in Aymé‐Gripp syndrome.
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- Clinical Genetics, 2020, v. 97, n. 2, p. 362, doi. 10.1111/cge.13651
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- Article
The activating p.Ser466Arg change in STAT1 causes a peculiar phenotype with features of interferonopathies.
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- Clinical Genetics, 2019, v. 96, n. 6, p. 585, doi. 10.1111/cge.13632
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- Article
Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis.
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- Human Molecular Genetics, 2014, v. 23, n. 16, p. 4315, doi. 10.1093/hmg/ddu148
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- Article
A mutation in PAK3 with a dual molecular effect deregulates the RAS/MAPK pathway and drives an X-linked syndromic phenotype.
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- Human Molecular Genetics, 2014, v. 23, n. 13, p. 3607, doi. 10.1093/hmg/ddu070
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- Article
Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.
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- Cell Death & Disease, 2019, v. 10, n. 3, p. 1, doi. 10.1038/s41419-019-1453-0
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- Article
Expression of signal transduction proteins during the differentiation of primary human erythroblasts.
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- Journal of Cellular Physiology, 2005, v. 202, n. 3, p. 831, doi. 10.1002/jcp.20179
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- Article
Loss of CBL E3-ligase activity in B-lineage childhood acute lymphoblastic leukaemia.
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- British Journal of Haematology, 2012, v. 159, n. 1, p. 115, doi. 10.1111/j.1365-2141.2012.09245.x
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- Article
Clinical and functional characterization of two novel ZBTB20 mutations causing Primrose syndrome.
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- Human Mutation, 2018, v. 39, n. 7, p. 959, doi. 10.1002/humu.23546
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- Article
Aberrant HRAS transcript processing underlies a distinctive phenotype within the RASopathy clinical spectrum.
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- Human Mutation, 2017, v. 38, n. 7, p. 798, doi. 10.1002/humu.23224
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- Article
Molecular Diversity and Associated Phenotypic Spectrum of Germline CBL Mutations.
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- Human Mutation, 2015, v. 36, n. 8, p. 787, doi. 10.1002/humu.22809
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- Article
Whole Genome Sequencing Solves an Atypical Form of Bardet–Biedl Syndrome: Identification of Novel Pathogenic Variants of BBS9.
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- International Journal of Molecular Sciences, 2024, v. 25, n. 15, p. 8313, doi. 10.3390/ijms25158313
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- Article