Found: 33
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Phosphorylation by casein kinase 2 induces PACS-1 binding of nephrocystin and targeting to cilia.
- Published in:
- EMBO Journal, 2005, v. 24, n. 24, p. 4415, doi. 10.1038/sj.emboj.7600885
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- Publication type:
- Article
The Runx3 transcription factor regulates development and survival of TrkC dorsal root ganglia neurons.
- Published in:
- EMBO Journal, 2002, v. 21, n. 13, p. 3454, doi. 10.1093/emboj/cdf370
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- Publication type:
- Article
Identification of Novel Target Genes of the Bone-Specific Transcription Factor Runx2.
- Published in:
- Journal of Bone & Mineral Research, 2004, v. 19, n. 6, p. 959, doi. 10.1359/jbmr.2004.19.6.959
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- Publication type:
- Article
The coiled-coil domain containing protein CCDC40 is essential for motile cilia function and left-right axis formation.
- Published in:
- Nature Genetics, 2011, v. 43, n. 1, p. 79, doi. 10.1038/ng.727
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- Publication type:
- Article
CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs.
- Published in:
- Nature Genetics, 2011, v. 43, n. 1, p. 72, doi. 10.1038/ng.726
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- Publication type:
- Article
Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis.
- Published in:
- Nature Genetics, 2003, v. 34, n. 4, p. 455, doi. 10.1038/ng1216
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- Publication type:
- Article
RPGR mutations might cause reduced orientation of respiratory cilia.
- Published in:
- Pediatric Pulmonology, 2013, v. 48, n. 4, p. 352, doi. 10.1002/ppul.22632
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- Publication type:
- Article
When cilia go bad: cilia defects and ciliopathies.
- Published in:
- 2008
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- Publication type:
- Correction Notice
When cilia go bad: cilia defects and ciliopathies.
- Published in:
- Nature Reviews Molecular Cell Biology, 2007, v. 8, n. 11, p. 880, doi. 10.1038/nrm2278
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- Publication type:
- Article
Mucociliary Clearance Defects in a Murine In Vitro Model of Pneumococcal Airway Infection.
- Published in:
- PLoS ONE, 2013, v. 8, n. 3, p. 1, doi. 10.1371/journal.pone.0059925
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- Publication type:
- Article
Identification and Analysis of Axonemal Dynein Light Chain 1 in Primary Ciliary Dyskinesia Patients.
- Published in:
- American Journal of Respiratory Cell & Molecular Biology, 2005, v. 33, n. 1, p. 41, doi. 10.1165/rcmb.2004-0335OC
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- Publication type:
- Article
Mycobacteria exploit nitric oxide‐induced transformation of macrophages into permissive giant cells.
- Published in:
- EMBO Reports, 2018, v. 19, n. 12, p. N.PAG, doi. 10.15252/embr.201847190
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- Publication type:
- Article
Mycobacteria exploit nitric oxide-induced transformation of macrophages into permissive giant cells.
- Published in:
- EMBO Reports, 2017, v. 18, n. 12, p. 2144, doi. 10.15252/embr.201744121
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- Publication type:
- Article
A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral–facial–digital type I syndrome.
- Published in:
- Human Genetics, 2006, v. 120, n. 2, p. 171, doi. 10.1007/s00439-006-0210-5
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- Publication type:
- Article
Late-Onset Antibody Deficiency Due to Monoallelic Alterations in NFKB1.
- Published in:
- Frontiers in Immunology, 2019, v. 10, p. 1, doi. 10.3389/fimmu.2019.02618
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- Publication type:
- Article
Corrigendum: Assessing the Functional Relevance of Variants in the IKAROS Family Zinc Finger Protein 1 (IKZF1) in a Cohort of Patients With Primary Immunodeficiency.
- Published in:
- 2019
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- Publication type:
- Correction Notice
Williams-Beuren syndrome critical region-5/non-T-cell activation linker: a novel target gene of AML1/ETO.
- Published in:
- Oncogene, 2004, v. 23, n. 56, p. 9070, doi. 10.1038/sj.onc.1208042
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- Publication type:
- Article
Engineering Material Properties of Transcription Factor Condensates to Control Gene Expression in Mammalian Cells and Mice (Small 38/2024).
- Published in:
- Small, 2024, v. 20, n. 38, p. 1, doi. 10.1002/smll.202470280
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- Publication type:
- Article
Engineering Material Properties of Transcription Factor Condensates to Control Gene Expression in Mammalian Cells and Mice.
- Published in:
- Small, 2024, v. 20, n. 38, p. 1, doi. 10.1002/smll.202311834
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- Publication type:
- Article
Ktu/PF13 is required for cytoplasmic pre-assembly of axonemal dyneins.
- Published in:
- Nature, 2008, v. 456, n. 7222, p. 611, doi. 10.1038/nature07471
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- Publication type:
- Article
ZNF341 controls STAT3 expression and thereby immunocompetence.
- Published in:
- Science Immunology, 2018, v. 3, n. 24, p. 1, doi. 10.1126/sciimmunol.aat4941
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- Publication type:
- Article
A Pathogenic Missense Variant in NFKB1 Causes Common Variable Immunodeficiency Due to Detrimental Protein Damage.
- Published in:
- Frontiers in Immunology, 2021, v. 11, p. N.PAG, doi. 10.3389/fimmu.2021.621503
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- Publication type:
- Article
DNAH5 Mutations Are a Common Cause of Primary Ciliary Dyskinesia with Outer Dynein Arm Defects.
- Published in:
- American Journal of Respiratory & Critical Care Medicine, 2006, v. 174, n. 2, p. 120, doi. 10.1164/rccm.200601-084OC
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- Publication type:
- Article
Mislocalization of DNAH5 and DNAH9 in respiratory cells from patients with primary ciliary dyskinesia.
- Published in:
- 2005
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- Publication type:
- journal article
The von Hippel-Lindau tumor suppressor protein controls ciliogenesis by orienting microtubule growth.
- Published in:
- Journal of Cell Biology, 2006, v. 175, n. 4, p. 547, doi. 10.1083/jcb.200605092
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- Publication type:
- Article
Nephrocystin and ciliary defects not only in the kidney?
- Published in:
- 2007
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- Publication type:
- Editorial
Identification of the human CYS1 gene and candidate gene analysis in Boichis disease.
- Published in:
- Pediatric Nephrology, 2003, v. 18, n. 6, p. 498, doi. 10.1007/s00467-003-1141-1
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- Publication type:
- Article
DCLRE1C (ARTEMIS) mutations causing phenotypes ranging from atypical severe combined immunodeficiency to mere antibody deficiency.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 25, p. 7361, doi. 10.1093/hmg/ddv437
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- Publication type:
- Article
U1 snRNA-mediated gene therapeutic correction of splice defects caused by an exceptionally mild BBS mutation.
- Published in:
- Human Mutation, 2011, v. 32, n. 7, p. 815, doi. 10.1002/humu.21509
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- Publication type:
- Article
Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused by DNAH11 mutations.
- Published in:
- Human Mutation, 2008, v. 29, n. 2, p. 289, doi. 10.1002/humu.20656
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- Publication type:
- Article
Dysfunction of axonemal dynein heavy chain Mdnah5 inhibits ependymal flow and reveals a novel mechanism for hydrocephalus formation.
- Published in:
- Human Molecular Genetics, 2004, v. 13, n. 18, p. 2133, doi. 10.1093/hmg/ddh219
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- Publication type:
- Article
Allele-Specific Disruption of a Common STAT3 Autosomal Dominant Allele Is Not Sufficient to Restore Downstream Signaling in Patient-Derived T Cells.
- Published in:
- Genes, 2022, v. 13, n. 10, p. N.PAG, doi. 10.3390/genes13101912
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- Publication type:
- Article
Distinct localization of septin proteins to ciliary sub-compartments in airway epithelial cells.
- Published in:
- Biological Chemistry, 2014, v. 395, n. 2, p. 151, doi. 10.1515/hsz-2013-0252
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- Publication type:
- Article