scholarly article | Q13442814 |
P50 | author | Robert A. Hegele | Q58046422 |
P2093 | author name string | Jian Wang | |
Victoria M Siu | |||
FORGE Canada Consortium | |||
Asuri N Prasad | |||
John F Robinson | |||
C Anthony Rupar | |||
Sali M K Farhan | |||
P2860 | cites work | The putative tumor suppressors EXT1 and EXT2 form a stable complex that accumulates in the Golgi apparatus and catalyzes the synthesis of heparan sulfate | Q22011093 |
EXT genes are differentially expressed in bone and cartilage during mouse embryogenesis | Q22254463 | ||
Cloning of the putative tumour suppressor gene for hereditary multiple exostoses (EXT1) | Q24308316 | ||
Contribution of EXT1, EXT2, and EXTL3 to heparan sulfate chain elongation | Q24338759 | ||
Long homozygous chromosomal segments in reference families from the centre d'Etude du polymorphisme humain | Q24534369 | ||
Heparan sulfate in skeletal development, growth, and pathology: the case of hereditary multiple exostoses | Q27005904 | ||
The exostosin family: proteins with many functions | Q27016069 | ||
Heparan Sulfate Proteoglycans Regulate Fgf Signaling and Cell Polarity during Collective Cell Migration | Q27321298 | ||
Heparan sulfate biosynthesis enzymes EXT1 and EXT2 affect NDST1 expression and heparan sulfate sulfation | Q28115828 | ||
The putative tumor suppressors EXT1 and EXT2 are glycosyltransferases required for the biosynthesis of heparan sulfate | Q28284035 | ||
The EXT2 multiple exostoses gene defines a family of putative tumour suppressor genes | Q28288396 | ||
Specificities of heparan sulphate proteoglycans in developmental processes | Q28377841 | ||
Disruption of gastrulation and heparan sulfate biosynthesis in EXT1-deficient mice | Q28586958 | ||
Mice deficient in Ext2 lack heparan sulfate and develop exostoses | Q28592253 | ||
Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children | Q29615807 | ||
Heparan sulphate proteoglycans fine-tune mammalian physiology | Q29619329 | ||
Zebrafish Ext2 is necessary for Fgf and Wnt signaling, but not for Hh signaling | Q34011254 | ||
Heparan sulphate proteoglycans in Alzheimer's disease and amyloid-related disorders | Q35183966 | ||
Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies | Q36096140 | ||
Interactions between heparan sulfate and proteins: the concept of specificity | Q36552851 | ||
Heparan sulphate biosynthesis and disease | Q37119533 | ||
Integrated genotype calling and association analysis of SNPs, common copy number polymorphisms and rare CNVs | Q37373867 | ||
Functions of Chondroitin Sulfate and Heparan Sulfate in the Developing Brain | Q37812566 | ||
Wnt signaling and cell-matrix adhesion | Q38182133 | ||
Cell surface heparan sulfate chains regulate local reception of FGF signaling in the mouse embryo. | Q38332655 | ||
Epigenetic loss of the familial tumor-suppressor gene exostosin-1 (EXT1) disrupts heparan sulfate synthesis in cancer cells | Q40512436 | ||
Multiple exostoses-mental retardation syndrome (Ale-Calo or M.E.M.R. syndrome). | Q40641748 | ||
Expression of Ext1, Ext2, and heparanase genes in brain of senescence-accelerated OXYS rats in early ontogenesis and during development of neurodegenerative changes | Q41166543 | ||
Clinical and molecular studies of EXT1/EXT2 in Bulgaria | Q43927606 | ||
Molecular dissection of a contiguous gene syndrome: localization of the genes involved in the Langer-Giedion syndrome | Q45345377 | ||
A genotype calling algorithm for affymetrix SNP arrays. | Q46033042 | ||
HSPG synthesis by zebrafish Ext2 and Extl3 is required for Fgf10 signalling during limb development | Q47073789 | ||
Ext1-dependent heparan sulfate regulates the range of Ihh signaling during endochondral ossification | Q47397369 | ||
Embryonic fibroblasts with a gene trap mutation in Ext1 produce short heparan sulfate chains | Q47432428 | ||
Developmental Regulation of Neural Response to FGF-1 and FGF-2 by Heparan Sulfate Proteoglycan | Q52225676 | ||
NDST1 missense mutations in autosomal recessive intellectual disability. | Q52777524 | ||
P433 | issue | 10 | |
P407 | language of work or name | English | Q1860 |
P921 | main subject | developmental disorder | Q3087172 |
seizure | Q6279182 | ||
P304 | page(s) | 666-675 | |
P577 | publication date | 2015-08-05 | |
P1433 | published in | Journal of Medical Genetics | Q14640281 |
P1476 | title | Old gene, new phenotype: mutations in heparan sulfate synthesis enzyme, EXT2 leads to seizure and developmental disorder, no exostoses. | |
P478 | volume | 52 |
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