Found: 20
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The unfolded protein response regulates ER exit sites via SNRPB-dependent RNA splicing and contributes to bone development.
- Published in:
- EMBO Journal, 2024, v. 43, n. 19, p. 4228, doi. 10.1038/s44318-024-00208-z
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- Publication type:
- Article
Non-alcoholic fatty liver disease in mice with heterozygous mutation in TMED2.
- Published in:
- PLoS ONE, 2017, v. 12, n. 8, p. 1, doi. 10.1371/journal.pone.0182995
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- Publication type:
- Article
Snap29 mutant mice recapitulate neurological and ophthalmological abnormalities associated with 22q11 and CEDNIK syndrome.
- Published in:
- Communications Biology, 2019, v. 2, n. 1, p. N.PAG, doi. 10.1038/s42003-019-0601-5
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- Publication type:
- Article
TMED2 binding restricts SMO to the ER and Golgi compartments.
- Published in:
- PLoS Biology, 2022, v. 20, n. 3, p. 1, doi. 10.1371/journal.pbio.3001596
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- Publication type:
- Article
Vitamin B<sub>12</sub> Metabolism during Pregnancy and in Embryonic Mouse Models.
- Published in:
- 2013
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- Publication type:
- Journal Article
Loss of function mutation of Eftud2, the gene responsible for mandibulofacial dysostosis with microcephaly (MFDM), leads to pre-implantation arrest in mouse.
- Published in:
- PLoS ONE, 2019, v. 14, n. 7, p. 1, doi. 10.1371/journal.pone.0219280
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- Publication type:
- Article
Disrupted auto-regulation of the spliceosomal gene SNRPB causes cerebro-costo-mandibular syndrome.
- Published in:
- Nature Communications, 2014, v. 5, n. 7, p. 4483, doi. 10.1038/ncomms5483
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- Publication type:
- Article
The del22q11.2 candidate gene Tbx1 regulates branchiomeric myogenesis.
- Published in:
- Human Molecular Genetics, 2004, v. 13, n. 22, p. 2829, doi. 10.1093/hmg/ddh304
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- Publication type:
- Article
The imperative for scientific societies to change the face of academia: Recommendations for immediate action.
- Published in:
- Anatomical Record: Advances in Integrative Anatomy & Evolutionary Biology, 2022, v. 305, n. 4, p. 1019, doi. 10.1002/ar.24735
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- Publication type:
- Article
Spliceosomopathies and neurocristopathies: Two sides of the same coin?
- Published in:
- Developmental Dynamics, 2020, v. 249, n. 8, p. 924, doi. 10.1002/dvdy.183
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- Publication type:
- Article
During Embryogenesis, Esrp1 Expression Is Restricted to a Subset of Epithelial Cells and Is Associated With Splicing of a Number of Developmentally Important Genes.
- Published in:
- Developmental Dynamics, 2013, v. 242, n. 3, p. 281, doi. 10.1002/dvdy.23918
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- Publication type:
- Article
Tbx3, the ulnar‐mammary syndrome gene, and Tbx2 interact in mammary gland development through a p19Arf/p53‐independent pathway.
- Published in:
- Developmental Dynamics, 2005, v. 234, n. 4, p. 922
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- Publication type:
- Article
Transmembrane emp24 domain proteins in development and disease.
- Published in:
- Genetics Research, 2019, v. 101, p. 1, doi. 10.1017/S0016672319000090
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- Publication type:
- Article
Diagnosis of Van den Ende-Gupta syndrome: Approach to the Marden-Walker-like spectrum of disorders.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 9, p. 2310, doi. 10.1002/ajmg.a.37831
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- Publication type:
- Article
Deletion of Sf3b4 in Neural Crest Cells Encapsulates the Variable Expressivity of Craniofacial Abnormalities Observed in Nager and Rodriguez Syndrome Patients.
- Published in:
- FASEB Journal, 2022, v. 36, p. N.PAG, doi. 10.1096/fasebj.2022.36.S1.R6052
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- Publication type:
- Article
Effects of spliceosomal mutations on brain patterning and morphogenesis.
- Published in:
- FASEB Journal, 2022, v. 36, p. N.PAG, doi. 10.1096/fasebj.2022.36.S1.R3578
- By:
- Publication type:
- Article
The Imperative for Scientific Societies to Change the Face of Academia: Recommendations for Immediate Action.
- Published in:
- FASEB Journal, 2022, v. 36, p. N.PAG, doi. 10.1096/fasebj.2022.36.S1.0I633
- By:
- Publication type:
- Article
Mutation in Eftud2 causes craniofacial defects in mice via mis-splicing of Mdm2 and increased P53.
- Published in:
- Human Molecular Genetics, 2021, v. 30, n. 9, p. 739, doi. 10.1093/hmg/ddab051
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- Publication type:
- Article
Craniofacial Defects in Embryos with Homozygous Deletion of Eftud2 in Their Neural Crest Cells Are Not Rescued by Trp53 Deletion.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 16, p. 9033, doi. 10.3390/ijms23169033
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- Publication type:
- Article
Alternative splicing is frequent during earlyembryonic development in mouse.
- Published in:
- BMC Genomics, 2010, v. 11, p. 399, doi. 10.1186/1471-2164-11-399
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- Publication type:
- Article