Found: 16
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Chondrodysplasias With Multiple Dislocations Caused by Defects in Glycosaminoglycan Synthesis.
- Published in:
- Frontiers in Genetics, 2021, v. 11, p. 1, doi. 10.3389/fgene.2021.642097
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- Article
Biallelic variants in SLC35B2 cause a novel chondrodysplasia with hypomyelinating leukodystrophy.
- Published in:
- 2022
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- Publication type:
- journal article
SLC10A7, an orphan member of the SLC10 family involved in congenital disorders of glycosylation.
- Published in:
- Human Genetics, 2022, v. 141, n. 7, p. 1287, doi. 10.1007/s00439-021-02420-x
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- Article
A new Adamts9 conditional mouse allele identifies its non-redundant role in interdigital web regression.
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- Genesis: The Journal of Genetics & Development, 2014, v. 52, n. 7, p. 702, doi. 10.1002/dvg.22784
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- Article
Impaired ADAMTS9 secretion: A potential mechanism for eye defects in Peters Plus Syndrome.
- Published in:
- Scientific Reports, 2016, p. 33974, doi. 10.1038/srep33974
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- Article
Determination of the substrate repertoire of ADAMTS2, 3, and 14 significantly broadens their functions and identifies extracellular matrix organization and TGF-β signaling as primary targets.
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- FASEB Journal, 2016, v. 30, n. 5, p. 1741, doi. 10.1096/fj.15-279869
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- Article
Serum bikunin isoforms in congenital disorders of glycosylation and linkeropathies.
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- Journal of Inherited Metabolic Disease, 2020, v. 43, n. 6, p. 1349, doi. 10.1002/jimd.12291
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- Publication type:
- Article
Newly identified biologically active and proteolysis-resistant VEGF-A isoform VEGF111 is induced by genotoxic agents.
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- Journal of Cell Biology, 2007, v. 179, n. 6, p. 1261, doi. 10.1083/jcb.200703052
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- Article
Corrigendum to: ADAMTS9 and ADAMTS20 are differentially affected by loss of B3GLCT in mouse model of Peters plus syndrome.
- Published in:
- Human Molecular Genetics, 2020, v. 29, n. 17, p. 2986, doi. 10.1093/hmg/ddaa090
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- Publication type:
- Article
ADAMTS9 and ADAMTS20 are differentially affected by loss of B3GLCT in mouse model of Peters plus syndrome.
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- Human Molecular Genetics, 2019, v. 28, n. 24, p. 4053, doi. 10.1093/hmg/ddz225
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- Publication type:
- Article
A Novel Physiological Glycosaminoglycan-Deficient Splice Variant of Neuropilin-1 Is Anti-Tumorigenic In Vitro and In Vivo.
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- PLoS ONE, 2016, v. 11, n. 10, p. 1, doi. 10.1371/journal.pone.0165153
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- Article
SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta mediated by GAG biosynthesis defects.
- Published in:
- Nature Communications, 2018, v. 9, n. 1, p. 1, doi. 10.1038/s41467-018-05191-8
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- Article
Inherited Proteoglycan Biosynthesis Defects—Current Laboratory Tools and Bikunin as a Promising Blood Biomarker.
- Published in:
- Genes, 2021, v. 12, n. 11, p. 1654, doi. 10.3390/genes12111654
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- Publication type:
- Article
Identification of kinesin family member (KIF22) homozygous variants in spondyloepimetaphyseal dysplasia with joint laxity, lepdodactylic type and demonstration of proteoglycan biosynthesis impairment.
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- Journal of Bone & Mineral Research, 2024, v. 39, n. 3, p. 287, doi. 10.1093/jbmr/zjad020
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- Publication type:
- Article
Homozygous Loss‐of‐Function Mutations in CCDC134 Are Responsible for a Severe Form of Osteogenesis Imperfecta.
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- Journal of Bone & Mineral Research, 2020, v. 35, n. 8, p. 1470, doi. 10.1002/jbmr.4011
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- Article
ADAMTS9 Regulates Skeletal Muscle Insulin Sensitivity Through Extracellular Matrix Alterations.
- Published in:
- 2019
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- Publication type:
- journal article