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The spondylodysplastic type of Ehlers-Danlos syndromes (spEDS) is caused by genetic defects in the B4GALT7 or B3GALT6 genes both deranging the biosynthesis of the glycosaminoglycan linkage region of chondroitin/dermatan sulfate and heparan sulfate proteoglycans. In this study we have analyzed the li...
ORGANISM(S): Homo sapiens (Human) 
2022-06-29 | PXD033230 | Pride
Here, using LC-MS/MS, we describe for the first time a linkage region trisaccharide comprising [-GlcUA-Gal-Xyl-O-] as an alternative point of entry for glycosaminoglycan (GAG) biosynthesis. The trisaccharide was identified in the proteoglycan bikunin from urine of human healthy donors present as a d...
ORGANISM(S): Homo sapiens (Human) 
2019-02-25 | PXD011855 | Pride
We used linkage data from CAD family to search for the responsible variant in disease. we used illumina array for linkage analysis of CAD affected family.
ORGANISM(S): Homo sapiens 
The inter-alpha-trypsin inhibitor (IαI) complex is a macromolecular arrangement of structurally related heavy chain proteins covalently cross-linked to the chondroitin sulfate (CS) chain of the proteoglycan bikunin. The IαI complex is abundant in plasma and associated with inflammation, kidney disea...
ORGANISM(S): Homo sapiens (Human) 
2015-10-02 | PXD002707 | Pride
Construction of genetic linkage map for Flathead grey mullet (Mugil cephalus) and mapping of the sex determination region
Generation of a linkage map for the hybridising toads Bombina bombina and B. variegata
The aim of this study was to generate a high-density genetic linkage map of Arabidopsis. A custom-designed exon-specific whole-genome array was used to identify ~16,000 significant SFP markers between the parental accessions Col and Ler. Subsequently 100 Col/Ler recombinant inbred lines (RILs) were ...
ORGANISM(S): Arabidopsis thaliana 
The inter-alpha-trypsin inhibitor (I?I) complex is a macromolecular arrangement of structurally related heavy chain proteins covalently cross-linked to the chondroitin sulfate (CS) chain of the proteoglycan bikunin. The I?I complex is abundant in plasma and associated with inflammation, kidney disea...
ORGANISM(S): Homo Sapiens (ncbitaxon:9606) 
2017-03-29 | MSV000080725 | MassIVE
The Lundehund is an old dog breed with remarkable anatomical features including polydactyly in all four limbs and extraordinary flexibility of the spine. We genotyped 28 Lundehund using the canine Illumina high density beadchip to estimate the effective population size (Ne) and inbreeding coefficien...
ORGANISM(S): Canis lupus familiaris 
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