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A MiR181/Sirtuin1 regulatory circuit modulates drug response in biliary cancers.
- Published in:
- Clinical & Experimental Medicine, 2024, v. 24, n. 1, p. 1, doi. 10.1007/s10238-024-01332-0
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- Publication type:
- Article
The primary cilium in different tissues-lessons from patients and animal models.
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- Pediatric Nephrology, 2011, v. 26, n. 5, p. 655, doi. 10.1007/s00467-010-1650-7
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- Publication type:
- Article
A ZFYVE19 gene mutation associated with neonatal cholestasis and cilia dysfunction: case report with a novel pathogenic variant.
- Published in:
- 2021
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- Publication type:
- journal article
A network-based approach to dissect the cilia/centrosome complex interactome.
- Published in:
- BMC Genomics, 2014, v. 15, n. 1, p. 658, doi. 10.1186/1471-2164-15-658
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- Publication type:
- Article
The buccohypophyseal canal is an ancestral vertebrate trait maintained by modulation in sonic hedgehog signaling.
- Published in:
- BMC Biology, 2013, v. 11, n. 1, p. 1, doi. 10.1186/1741-7007-11-27
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- Publication type:
- Article
Oral–facial–digital syndrome type 1, Caroli's disease and cystic renal disease.
- Published in:
- Nephrology Dialysis Transplantation, 2006, v. 21, n. 6, p. 1705, doi. 10.1093/ndt/gfk013
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- Publication type:
- Article
The NAMPT Inhibitor FK866 in Combination with Cisplatin Reduces Cholangiocarcinoma Cells Growth.
- Published in:
- Cells (2073-4409), 2023, v. 12, n. 5, p. 775, doi. 10.3390/cells12050775
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- Publication type:
- Article
The Autophagy-Cilia Axis: An Intricate Relationship.
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- Cells (2073-4409), 2019, v. 8, n. 8, p. 905, doi. 10.3390/cells8080905
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- Publication type:
- Article
The impairment of HCCS leads to MLS syndrome by activating a non-canonical cell death pathway in the brain and eyes.
- Published in:
- EMBO Molecular Medicine, 2014, v. 6, n. 6, p. 849, doi. 10.15252/emmm.201470060
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- Publication type:
- Article
The impairment of HCCS leads to MLS syndrome by activating a non-canonical cell death pathway in the brain and eyes.
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- EMBO Molecular Medicine, 2013, v. 5, n. 2, p. 280, doi. 10.1002/emmm.201201739
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- Publication type:
- Article
Refinement of the NHS locus on chromosome Xp22.13 and analysis of five candidate genes.
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- European Journal of Human Genetics, 2002, v. 10, n. 9, p. 516, doi. 10.1038/sj.ejhg.5200846
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- Publication type:
- Article
Linkage mapping of a new syndromic form of X-linked mental retardation, MRXS7, associated with obesity.
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- European Journal of Human Genetics, 1999, v. 7, n. 7, p. 828, doi. 10.1038/sj.ejhg.5200376
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- Publication type:
- Article
Generation of a transcription map of a 1 Mbase region containing the HFE gene (6p22).
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- European Journal of Human Genetics, 1998, v. 6, n. 2, p. 105, doi. 10.1038/sj.ejhg.5200162
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- Publication type:
- Article
Buccal Anomalies, Cephalometric Analysis and Genetic Study of Two Sisters With Orofaciodigital Syndrome Type I.
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- Cleft Palate Craniofacial Journal, 2007, v. 44, n. 6, p. 660, doi. 10.1597/06-225.1
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- Publication type:
- Article
Cilia and Cancer: From Molecular Genetics to Therapeutic Strategies.
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- Genes, 2023, v. 14, n. 7, p. 1428, doi. 10.3390/genes14071428
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- Publication type:
- Article
Revisiting the Role of Autophagy in Cardiac Differentiation: A Comprehensive Review of Interplay with Other Signaling Pathways.
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- Genes, 2023, v. 14, n. 7, p. 1328, doi. 10.3390/genes14071328
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- Publication type:
- Article
DNA Methylation at ATP11A cg11702988 Is a Biomarker of Lung Disease Severity in Cystic Fibrosis: A Longitudinal Study.
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- Genes, 2021, v. 12, n. 3, p. 441, doi. 10.3390/genes12030441
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- Publication type:
- Article
Linear Skin Defects with Multiple Congenital Anomalies (LSDMCA): An Unconventional Mitochondrial Disorder.
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- Genes, 2021, v. 12, n. 2, p. 263, doi. 10.3390/genes12020263
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- Publication type:
- Article
Predictive Value of Circulating miRNAs in Lymph Node Metastasis for Colon Cancer.
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- Genes, 2021, v. 12, n. 2, p. 176, doi. 10.3390/genes12020176
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- Publication type:
- Article
Autophagy promotes primary ciliogenesis by removing OFD1 from centriolar satellites.
- Published in:
- Nature, 2013, v. 502, n. 7470, p. 254, doi. 10.1038/nature12606
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- Publication type:
- Article
CiliaCarta: An integrated and validated compendium of ciliary genes.
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- PLoS ONE, 2019, v. 14, n. 5, p. 1, doi. 10.1371/journal.pone.0216705
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- Publication type:
- Article
Oral-facial-digital syndrome type I cells exhibit impaired DNA repair; unanticipated consequences of defective OFD1 outside of the cilia network.
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 1, p. 19, doi. 10.1093/hmg/ddw364
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- Publication type:
- Article
OFIP/KIAA0753 forms a complex with OFD1 and FOR20 at pericentriolar satellites and centrosomes and is mutated in one individual with oral-facial-digital syndrome.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 3, p. 497, doi. 10.1093/hmg/ddv488
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- Publication type:
- Article
Kidney-specific inactivation of Ofd1 leads to renal cystic disease associated with upregulation of the mTOR pathway.
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- Human Molecular Genetics, 2010, v. 19, n. 14, p. 2792, doi. 10.1093/hmg/ddq180
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- Publication type:
- Article
Ofd1 Controls Dorso-Ventral Patterning and Axoneme Elongation during Embryonic Brain Development.
- Published in:
- PLoS ONE, 2012, v. 7, n. 12, p. 1, doi. 10.1371/journal.pone.0052937
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- Publication type:
- Article
Oral-facial-digital type I protein is required for primary cilia formation and left-right axis specification.
- Published in:
- Nature Genetics, 2006, v. 38, n. 1, p. 112, doi. 10.1038/ng1684
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- Publication type:
- Article
Micro-RNA in Cholangiocarcinoma: Implications for Diagnosis, Prognosis, and Therapy.
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- Journal of Molecular Pathology, 2022, v. 3, n. 2, p. 88, doi. 10.3390/jmp3020009
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- Publication type:
- Article
CDKL5/Stk9 kinase inactivation is associated with neuronal developmental disorders.
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- Human Molecular Genetics, 2005, v. 14, n. 24, p. 3775, doi. 10.1093/hmg/ddi391
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- Publication type:
- Article
MID2, a homologue of the Opitz syndrome gene MID1: similarities in subcellular localization and differences in expression during development.
- Published in:
- Human Molecular Genetics, 1999, v. 8, n. 8, p. 1397, doi. 10.1093/hmg/8.8.1397
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- Publication type:
- Article
Characterization of a Cluster of Sulfatase Genes on Xp22.3 Suggests Gene Duplications in an Ancestral Pseudoautosomal Region.
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- Human Molecular Genetics, 1996, v. 5, n. 4, p. 423, doi. 10.1093/hmg/5.4.423
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- Publication type:
- Article
An integrated physical and genetic map of a 35 Mb region on chromosome Xp22.3–Xp21.3.
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- Human Molecular Genetics, 1995, v. 4, n. 10, p. 1821
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- Publication type:
- Article
A gene from the Xp22.3 region shares homology with voltage-gated chloride channels.
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- Human Molecular Genetics, 1994, v. 3, n. 4, p. 547
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- Publication type:
- Article
Biallelic variants in CENPF causing a phenotype distinct from Strømme syndrome.
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- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2022, v. 190, n. 1, p. 102, doi. 10.1002/ajmg.c.31973
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- Publication type:
- Article
OFD1: One gene, several disorders.
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- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2022, v. 190, n. 1, p. 57, doi. 10.1002/ajmg.c.31962
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- Publication type:
- Article
The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation.
- Published in:
- Nature Genetics, 2014, v. 46, n. 8, p. 905, doi. 10.1038/ng.3031
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- Publication type:
- Article
Genomic deletions of OFD1 account for 23% of oral-facial-digital type 1 syndrome after negative DNA sequencing.
- Published in:
- Human Mutation, 2009, v. 30, n. 2, p. E320, doi. 10.1002/humu.20888
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- Publication type:
- Article
Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patients.
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- Human Mutation, 2008, v. 29, n. 10, p. 1237, doi. 10.1002/humu.20792
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- Publication type:
- Article
Twenty-six novel EFNB1 mutations in familial and sporadic craniofrontonasal syndrome (CFNS).
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- Human Mutation, 2005, v. 26, n. 2, p. 113, doi. 10.1002/humu.20193
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- Publication type:
- Article
α-synuclein overexpression in the retina leads to vision impairment and degeneration of dopaminergic amacrine cells.
- Published in:
- Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-66497-6
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- Publication type:
- Article
Expansion of the phenotype of lateral meningocele syndrome.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 5, p. 1259, doi. 10.1002/ajmg.a.61536
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- Publication type:
- Article
Cerebral dysgenesis does not exclude OFD I syndrome.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 2, p. 455, doi. 10.1002/ajmg.a.33812
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- Publication type:
- Article
CNS involvement in OFD1 syndrome: A clinical, molecular, and neuroimaging study.
- Published in:
- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 1, doi. 10.1186/1750-1172-9-74
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- Publication type:
- Article
CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study.
- Published in:
- 2014
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- Publication type:
- journal article
OFD Type I syndrome: lessons learned from a rare ciliopathy.
- Published in:
- Biochemical Society Transactions, 2020, v. 48, n. 5, p. 1929, doi. 10.1042/BST20191029
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- Publication type:
- Article
Integrated Genomics Identifies miR-181/TFAM Pathway as a Critical Driver of Drug Resistance in Melanoma.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 4, p. 1801, doi. 10.3390/ijms22041801
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- Publication type:
- Article
Role of uL3 in the Crosstalk between Nucleolar Stress and Autophagy in Colon Cancer Cells.
- Published in:
- International Journal of Molecular Sciences, 2020, v. 21, n. 6, p. 2143, doi. 10.3390/ijms21062143
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- Publication type:
- Article
The Pervasive Role of the miR-181 Family in Development, Neurodegeneration, and Cancer.
- Published in:
- International Journal of Molecular Sciences, 2020, v. 21, n. 6, p. 2092, doi. 10.3390/ijms21062092
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- Publication type:
- Article
Ciliopathy proteins regulate paracrine signaling by modulating proteasomal degradation of mediators.
- Published in:
- 2014
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- Publication type:
- journal article
Ciliopathy proteins regulate paracrine signaling by modulating proteasomal degradation of mediators.
- Published in:
- Journal of Clinical Investigation, 2014, v. 124, n. 5, p. 2059, doi. 10.1172/JCI71898
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- Publication type:
- Article
Synthetic long non-coding RNAs [SINEUPs] rescue defective gene expression in vivo.
- Published in:
- Scientific Reports, 2016, p. 27315, doi. 10.1038/srep27315
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- Publication type:
- Article