Found: 8
Select item for more details and to access through your institution.
Glucose transporter type 10--lacking in arterial tortuosity syndrome--facilitates dehydroascorbic acid transport.
- Published in:
- FEBS Letters, 2016, v. 590, n. 11, p. 1630, doi. 10.1002/1873-3468.12204
- By:
- Publication type:
- Article
GLUT10 is required for the development of the cardiovascular system and the notochord and connects mitochondrial function to TGFβ signaling.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 6, p. 1248, doi. 10.1093/hmg/ddr555
- By:
- Publication type:
- Article
GLUT10--Lacking in Arterial Tortuosity Syndrome--Is Localized to the Endoplasmic Reticulum of Human Fibroblasts.
- Published in:
- International Journal of Molecular Sciences, 2017, v. 18, n. 8, p. 1820, doi. 10.3390/ijms18081820
- By:
- Publication type:
- Article
Altered TGFβ signaling and cardiovascular manifestations in patients with autosomal recessive cutis laxa type I caused by fibulin-4 deficiency.
- Published in:
- European Journal of Human Genetics, 2010, v. 18, n. 8, p. 895, doi. 10.1038/ejhg.2010.45
- By:
- Publication type:
- Article
Decreased Nuclear Ascorbate Accumulation Accompanied with Altered Genomic Methylation Pattern in Fibroblasts from Arterial Tortuosity Syndrome Patients.
- Published in:
- Oxidative Medicine & Cellular Longevity, 2019, p. 1, doi. 10.1155/2019/8156592
- By:
- Publication type:
- Article
Twenty patients including 7 probands with autosomal dominant cutis laxa confirm clinical and molecular homogeneity.
- Published in:
- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-36
- By:
- Publication type:
- Article
Twenty patients including 7 probands with autosomal dominant cutis laxa confirm clinical and molecular homogeneity.
- Published in:
- 2013
- By:
- Publication type:
- journal article
Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: Report of 14 novel mutations and review of the literature.
- Published in:
- Human Mutation, 2009, v. 30, n. 3, p. 334, doi. 10.1002/humu.20854
- By:
- Publication type:
- Article