Found: 19
Select item for more details and to access through your institution.
Superovulation alters the expression of imprinted genes in the midgestation mouse placenta.
- Published in:
- Human Molecular Genetics, 2008, v. 17, n. 11, p. 1653, doi. 10.1093/hmg/ddn055
- By:
- Publication type:
- Article
Atlastin GTPases are required for Golgi apparatus and ER morphogenesis.
- Published in:
- Human Molecular Genetics, 2008, v. 17, n. 11, p. 1591, doi. 10.1093/hmg/ddn046
- By:
- Publication type:
- Article
The intracellular accumulation of polymeric neuroserpin explains the severity of the dementia FENIB.
- Published in:
- Human Molecular Genetics, 2008, v. 17, n. 11, p. 1527, doi. 10.1093/hmg/ddn041
- By:
- Publication type:
- Article
Cyst formation and activation of the extracellular regulated kinase pathway after kidney specific inactivation of Pkd1.
- Published in:
- Human Molecular Genetics, 2008, v. 17, n. 11, p. 1505, doi. 10.1093/hmg/ddn039
- By:
- Publication type:
- Article
Variants in the CD36 gene associate with the metabolic syndrome and high-density lipoprotein cholesterol.
- Published in:
- Human Molecular Genetics, 2008, v. 17, n. 11, p. 1695, doi. 10.1093/hmg/ddn060
- By:
- Publication type:
- Article
Gain-of-function haplotype in the epithelial calcium channel TRPV6 is a risk factor for renal calcium stone formation.
- Published in:
- Human Molecular Genetics, 2008, v. 17, n. 11, p. 1613, doi. 10.1093/hmg/ddn048
- By:
- Publication type:
- Article
Biological and genetic interaction between Tenascin C and Neuropeptide S receptor 1 in allergic diseases.
- Published in:
- Human Molecular Genetics, 2008, v. 17, n. 11, p. 1673, doi. 10.1093/hmg/ddn058
- By:
- Publication type:
- Article
Translation of SOX10 3' untranslated region causes a complex severe neurocristopathy by generation of a deleterious functional domain.
- Published in:
- Human Molecular Genetics, 2008, v. 17, n. 11, p. 1705, doi. 10.1093/hmg/ddn056
- By:
- Publication type:
- Article
VAPB interacts with and modulates the activity of ATF6.
- Published in:
- Human Molecular Genetics, 2008, v. 17, n. 11, p. 1517, doi. 10.1093/hmg/ddn040
- By:
- Publication type:
- Article
A model for familial exudative vitreoretinopathy caused by LPR5 mutations.
- Published in:
- Human Molecular Genetics, 2008, v. 17, n. 11, p. 1605, doi. 10.1093/hmg/ddn047
- By:
- Publication type:
- Article
Interleukin-6 (IL-6) and receptor (IL6-R) gene haplotypes associate with amniotic fluid protein concentrations in preterm birth.
- Published in:
- Human Molecular Genetics, 2008, v. 17, n. 11, p. 1619, doi. 10.1093/hmg/ddn049
- By:
- Publication type:
- Article
Stoichiometric imbalance in the receptor complex contributes to dysfunctional BMPR-II mediated signalling in pulmonary arterial hypertension.
- Published in:
- Human Molecular Genetics, 2008, v. 17, n. 11, p. 1683, doi. 10.1093/hmg/ddn059
- By:
- Publication type:
- Article
Acute kidney injury and aberrant planar cell polarity induce cyst formation in mice lacking renal cilia.
- Published in:
- Human Molecular Genetics, 2008, v. 17, n. 11, p. 1578, doi. 10.1093/hmg/ddn045
- By:
- Publication type:
- Article
Mice deficient in Neu4 sialidase exhibit abnormal ganglioside catabolism and lysosomal storage.
- Published in:
- Human Molecular Genetics, 2008, v. 17, n. 11, p. 1556, doi. 10.1093/hmg/ddn043
- By:
- Publication type:
- Article
FANCM of the Fanconi anemia core complex is required for both monoubiquitination and DNA repair.
- Published in:
- Human Molecular Genetics, 2008, v. 17, n. 11, p. 1641, doi. 10.1093/hmg/ddn054
- By:
- Publication type:
- Article
Comparative expression analysis uncovers novel features of endogenous antisense transcription.
- Published in:
- Human Molecular Genetics, 2008, v. 17, n. 11, p. 1631, doi. 10.1093/hmg/ddn051
- By:
- Publication type:
- Article
Significant association of the neurexin-1 gene (NRXN1) with nicotine dependence in European- and African-American smokers.
- Published in:
- Human Molecular Genetics, 2008, v. 17, n. 11, p. 1569, doi. 10.1093/hmg/ddn044
- By:
- Publication type:
- Article
Myopathy with lactic acidosis is linked to chromosome 12q23.3–24.11 and caused by an intron mutation in the ISCU gene resulting in a splicing defect.
- Published in:
- Human Molecular Genetics, 2008, v. 17, n. 11, p. 1666, doi. 10.1093/hmg/ddn057
- By:
- Publication type:
- Article
Autophagy induced by Alexander disease-mutant GFAP accumulation is regulated by p38/MAPK and mTOR signaling pathways.
- Published in:
- Human Molecular Genetics, 2008, v. 17, n. 11, p. 1540, doi. 10.1093/hmg/ddn042
- By:
- Publication type:
- Article