Old gene, new phenotype: mutations in heparan sulfate synthesis enzyme, EXT2 leads to seizure and developmental disorder, no exostoses.

scientific article published on 5 August 2015

Old gene, new phenotype: mutations in heparan sulfate synthesis enzyme, EXT2 leads to seizure and developmental disorder, no exostoses. is …
instance of (P31):
scholarly articleQ13442814

External links are
P356DOI10.1136/JMEDGENET-2015-103279
P698PubMed publication ID26246518
P5875ResearchGate publication ID280870680

P50authorRobert A. HegeleQ58046422
P2093author name stringJian Wang
Victoria M Siu
FORGE Canada Consortium
Asuri N Prasad
John F Robinson
C Anthony Rupar
Sali M K Farhan
P2860cites workThe putative tumor suppressors EXT1 and EXT2 form a stable complex that accumulates in the Golgi apparatus and catalyzes the synthesis of heparan sulfateQ22011093
EXT genes are differentially expressed in bone and cartilage during mouse embryogenesisQ22254463
Cloning of the putative tumour suppressor gene for hereditary multiple exostoses (EXT1)Q24308316
Contribution of EXT1, EXT2, and EXTL3 to heparan sulfate chain elongationQ24338759
Long homozygous chromosomal segments in reference families from the centre d'Etude du polymorphisme humainQ24534369
Heparan sulfate in skeletal development, growth, and pathology: the case of hereditary multiple exostosesQ27005904
The exostosin family: proteins with many functionsQ27016069
Heparan Sulfate Proteoglycans Regulate Fgf Signaling and Cell Polarity during Collective Cell MigrationQ27321298
Heparan sulfate biosynthesis enzymes EXT1 and EXT2 affect NDST1 expression and heparan sulfate sulfationQ28115828
The putative tumor suppressors EXT1 and EXT2 are glycosyltransferases required for the biosynthesis of heparan sulfateQ28284035
The EXT2 multiple exostoses gene defines a family of putative tumour suppressor genesQ28288396
Specificities of heparan sulphate proteoglycans in developmental processesQ28377841
Disruption of gastrulation and heparan sulfate biosynthesis in EXT1-deficient miceQ28586958
Mice deficient in Ext2 lack heparan sulfate and develop exostosesQ28592253
Homozygosity mapping: a way to map human recessive traits with the DNA of inbred childrenQ29615807
Heparan sulphate proteoglycans fine-tune mammalian physiologyQ29619329
Zebrafish Ext2 is necessary for Fgf and Wnt signaling, but not for Hh signalingQ34011254
Heparan sulphate proteoglycans in Alzheimer's disease and amyloid-related disordersQ35183966
Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomaliesQ36096140
Interactions between heparan sulfate and proteins: the concept of specificityQ36552851
Heparan sulphate biosynthesis and diseaseQ37119533
Integrated genotype calling and association analysis of SNPs, common copy number polymorphisms and rare CNVsQ37373867
Functions of Chondroitin Sulfate and Heparan Sulfate in the Developing BrainQ37812566
Wnt signaling and cell-matrix adhesionQ38182133
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 cellsQ40512436
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 changesQ41166543
Clinical and molecular studies of EXT1/EXT2 in BulgariaQ43927606
Molecular dissection of a contiguous gene syndrome: localization of the genes involved in the Langer-Giedion syndromeQ45345377
A genotype calling algorithm for affymetrix SNP arrays.Q46033042
HSPG synthesis by zebrafish Ext2 and Extl3 is required for Fgf10 signalling during limb developmentQ47073789
Ext1-dependent heparan sulfate regulates the range of Ihh signaling during endochondral ossificationQ47397369
Embryonic fibroblasts with a gene trap mutation in Ext1 produce short heparan sulfate chainsQ47432428
Developmental Regulation of Neural Response to FGF-1 and FGF-2 by Heparan Sulfate ProteoglycanQ52225676
NDST1 missense mutations in autosomal recessive intellectual disability.Q52777524
P433issue10
P407language of work or nameEnglishQ1860
P921main subjectdevelopmental disorderQ3087172
seizureQ6279182
P304page(s)666-675
P577publication date2015-08-05
P1433published inJournal of Medical GeneticsQ14640281
P1476titleOld gene, new phenotype: mutations in heparan sulfate synthesis enzyme, EXT2 leads to seizure and developmental disorder, no exostoses.
P478volume52

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cites work (P2860)
Q58046672A De Novo Mutation Associated With Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome in a Family With Werner Syndrome
Q64226854Developmental delay, coarse facial features, and epilepsy in a patient with gene variants
Q39411671Epigenetic Regulation of the Biosynthesis & Enzymatic Modification of Heparan Sulfate Proteoglycans: Implications for Tumorigenesis and Cancer Biomarkers
Q48280235Familial solitary chondrosarcoma resulting from germline EXT2 mutation.
Q47707490Identification of a novel synaptic protein, TMTC3, involved in periventricular nodular heterotopia with intellectual disability and epilepsy
Q52812086KMT2D p.Gln3575His segregating in a family with autosomal dominant choanal atresia strengthens the Kabuki/CHARGE connection.
Q30668595Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome
Q48109497OPTN p.Met468Arg and ATXN2 intermediate length polyQ extension in families with C9orf72 mediated amyotrophic lateral sclerosis and frontotemporal dementia
Q52884462Short stature, unusual face, delta phalanx, and abnormal vertebrae and ribs in a girl born to half-siblings.
Q39292867What is new in CDG?

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