No haploinsufficiency but loss of heterozygosity for EXT in multiple osteochondromas - Wikidata - awgldk - TriplyDB

No haploinsufficiency but loss of heterozygosity for EXT in multiple osteochondromas

No haploinsufficiency but loss of heterozygosity for EXT in multiple osteochondromas

http://www.wikidata.org/entity/Q34162459

about

Hereditary Multiple Exostoses: a review of clinical appearance and metabolic pattern Secondary peripheral chondrosarcoma evolving from osteochondroma as a result of outgrowth of cells with functional EXT Autoantibody signature differentiates Wilms tumor patients from neuroblastoma patients.HSPG-deficient zebrafish uncovers dental aspect of multiple osteochondromas.Chondrosarcoma: with updates on molecular genetics.Glycobiology and the growth plate: current concepts in multiple hereditary exostoses Heparanase stimulates chondrogenesis and is up-regulated in human ectopic cartilage: a mechanism possibly involved in hereditary multiple exostoses.Peripheral chondrosarcoma progression is associated with increased type X collagen and vascularisation.The oncometabolite D-2-hydroxyglutarate induced by mutant IDH1 or -2 blocks osteoblast differentiation in vitro and in vivo.Cell cycle deregulation and mosaic loss of Ext1 drive peripheral chondrosarcomagenesis in the mouse and reveal an intrinsic cilia deficiency Somatic mosaic IDH1 and IDH2 mutations are associated with enchondroma and spindle cell hemangioma in Ollier disease and Maffucci syndrome Mutations in the EXT1 and EXT2 genes in Spanish patients with multiple osteochondromas.Epiphyseal growth plate and secondary peripheral chondrosarcoma: the neighbours matter.Cell biology of osteochondromas: bone morphogenic protein signalling and heparan sulphates.Multispectral imaging: a review of its technical aspects and applications in anatomic pathology.Hereditary Multiple Exostoses: New Insights into Pathogenesis, Clinical Complications, and Potential Treatments.Multiple hereditary exostoses (MHE): elucidating the pathogenesis of a rare skeletal disorder through interdisciplinary research.Cartilage tumour progression is characterized by an increased expression of heparan sulphate 6O-sulphation-modifying enzymes.Assessing the general population frequency of rare coding variants in the EXT1 and EXT2 genes previously implicated in hereditary multiple exostoses Immunohistochemical Localization of Bone Morphogenetic Proteins (BMPs) and their Receptors in Solitary and Multiple Human Osteochondromas Epiphyseal abnormalities, trabecular bone loss and articular chondrocyte hypertrophy develop in the long bones of postnatal Ext1-deficient mice.Growth plate regulation and osteochondroma formation: insights from tracing proteoglycans in zebrafish models and human cartilage.The pathogenic roles of heparan sulfate deficiency in hereditary multiple exostoses.Genetic alterations in chondrosarcomas - keys to targeted therapies?Intronic deletion and duplication proximal of the EXT1 gene: a novel causative mechanism for multiple osteochondromas.

P2860

Q28067024-757136D8-21B3-45BD-B34E-07D7ED5D5C72 Q28244569-4A1D29EA-0FD3-4937-90C3-CE567B1F64A4 Q34110567-6800E08D-1E10-4E7D-97F9-E95B96A8C9D5 Q34130600-F0B6BDA1-6BBF-4538-AF59-59C2DB812415 Q34591289-711365BB-69E7-45F6-B848-EFCB04AC1670 Q35036977-83C59567-E76B-460E-A17A-E21E83526DC8 Q35669031-DF254051-2163-4398-8CC6-B3DE35CF4B1F Q35700602-04CAE013-9C87-41BB-8518-63F55EAD534F Q36020846-1B892970-D0B5-4D46-99B4-F9FC7827B5BD Q36041855-C34C947B-5387-4F15-9F5C-198A2E690BB5 Q36190010-16EF6F11-30B8-4BAE-9D78-D13B22301797 Q36637045-AF70A29E-A495-48B4-9202-D3DDA96388C4 Q37940373-A9C5EA7A-69C5-4D1B-BC5A-EF4FFC60B9B0 Q38114791-57CD09B7-362E-43FF-88E2-D06EF6E46703 Q38152999-CBC806DF-6BBD-4D08-98D8-D41A7DC1C366 Q38688265-84F8C232-49EC-4518-9EF2-997C79B87DA8 Q39275583-90C4130A-7433-4DCB-A2BD-0CA88BEE0424 Q39295187-81AAC27F-0F60-4C6B-8B98-C25B60A28E6E Q39402575-FD946E04-E69D-4888-9E47-A1B502CF051C Q41826035-77CB4489-6AA5-4288-9B20-26A9E772477B Q41891943-44E697A2-93AF-42F8-8103-44A4DDBC1307 Q47073491-F706C29A-B349-4CF2-9404-47FB06F0814D Q47249497-7C736B2D-1165-4F7B-8EFC-BFC552A0C738 Q53070824-F1CEDFF6-3164-4B4D-935F-682F0B324F07 Q53802124-0D35B4E6-BCA3-449A-AA2E-254ED5640737

P2860

No haploinsufficiency but loss of heterozygosity for EXT in multiple osteochondromas

http://www.wikidata.org/entity/Q34162459

description

2010 nî lūn-bûn

@nan

2010 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած

@hyw

2010 թվականի սեպտեմբերին հրատարակված գիտական հոդված

@hy

2010年の論文

@ja

2010年学术文章

@wuu

2010年学术文章

@zh-cn

2010年学术文章

@zh-hans

2010年学术文章

@zh-my

2010年学术文章

@zh-sg

2010年學術文章

@yue

name

No haploinsufficiency but loss of heterozygosity for EXT in multiple osteochondromas

@ast

No haploinsufficiency but loss of heterozygosity for EXT in multiple osteochondromas

@en

No haploinsufficiency but loss of heterozygosity for EXT in multiple osteochondromas

@nl

type

label

No haploinsufficiency but loss of heterozygosity for EXT in multiple osteochondromas

@ast

No haploinsufficiency but loss of heterozygosity for EXT in multiple osteochondromas

@en

No haploinsufficiency but loss of heterozygosity for EXT in multiple osteochondromas

@nl

prefLabel

No haploinsufficiency but loss of heterozygosity for EXT in multiple osteochondromas

@ast

No haploinsufficiency but loss of heterozygosity for EXT in multiple osteochondromas

@en

No haploinsufficiency but loss of heterozygosity for EXT in multiple osteochondromas

@nl

P1433

Q34162459-7D374609-6DE4-47D4-A190-732478766A92

P1476

Q34162459-18E91A76-8466-4F06-BCB5-7F78F60C474E

P2093

Q34162459-41187C85-BD24-4153-BDE2-ADA6AC8F2EB1

Q34162459-50632375-3671-4E77-9B2D-B116AB9CE97F

Q34162459-5EB4BF46-7C22-4A7A-997F-A4E5161026BC

Q34162459-61556F7C-A653-4C15-9915-0DD6EDA2A6BC

Q34162459-8A2A0E2C-EFEB-4766-8081-96567DD85330

Q34162459-8F04D489-8D67-4AAD-9CDC-F469F1590BFA

Q34162459-D8E0BB12-B53D-4B49-ADBB-7A0C49D3A080

Q34162459-E02EB82D-B519-4A8C-8A4F-72851922D8C4

Q34162459-E8DFE529-DFF2-4B61-8543-0AED27B09EC9

Q34162459-F60CF1A9-619E-4924-96FB-E7EA4E553933

P2860

Q34162459-02F3C284-E098-4423-9A8F-A1C7783D30BB

Q34162459-0424F69F-CCE2-49D5-AAE5-690A47C97E68

Q34162459-042698A2-5CA5-48C3-BCD2-EA2088F47456

Q34162459-06CF197D-0EC9-470F-BEB8-657432BF5129

Q34162459-0EA1900B-3129-4A33-A730-A0011A00A11C

Q34162459-11C22C64-DDBA-42F1-B456-1E23A5A0961C

Q34162459-23E99CCE-F460-4FC1-A558-1FAF1F5979C2

Q34162459-254E8F14-07B7-426A-B9A5-99007EDFEE5B

Q34162459-28683D39-84CE-4218-BA95-F6194FF7BFC6

Q34162459-296874BA-A351-486C-AF2E-23BCB17C1F41

P304

Q34162459-8C758EE7-3944-4241-B397-CA75BA6E4075

P31

Q34162459-4DB3F4CA-9B53-4E09-A295-0CC0CD5291C8

P356

Q34162459-81F2BECA-67DA-486E-B993-8DC19136F899

P407

Q34162459-7FF6B5AC-B5A7-4BAE-87C9-415CB7A11910

P433

Q34162459-8E365C1B-E108-4E81-80D7-687969521179

P478

Q34162459-276DBF15-A628-4DAF-801E-1D4FC95BC4D2

P50

Q34162459-2A963520-8216-4E38-A4E0-BEE124EF8A9F

P577

Q34162459-3E81F70C-F4A0-4460-901E-FB87343DA7C2

P5875

Q34162459-7517BC4D-0F86-40C7-8FDD-AB146BEEC998

P698

Q34162459-C74A11ED-BA8B-4A84-8818-942F27D182BD

P921

Q34162459-CE22717D-1F26-49CC-87A0-BDE2DD8D804D

P932

Q34162459-B5EBE345-A880-4183-88F7-8A94D7881AA6

P356

AJPATH.2010.100296

P1433

The American Journal of Pathology

P1476

No haploinsufficiency but loss of heterozygosity for EXT in multiple osteochondromas

@en

P2093

Andrew Hamilton

http://www.w3.org/2001/XMLSchema#string

Cathelijn J F Waaijer

http://www.w3.org/2001/XMLSchema#string

Christianne M A Reijnders

http://www.w3.org/2001/XMLSchema#string

Egbert Bakker

http://www.w3.org/2001/XMLSchema#string

Emilie P Buddingh

http://www.w3.org/2001/XMLSchema#string

John Ham

http://www.w3.org/2001/XMLSchema#string

Judith V M G Bovée

http://www.w3.org/2001/XMLSchema#string

Marcel Karperien

http://www.w3.org/2001/XMLSchema#string

Pancras C W Hogendoorn

http://www.w3.org/2001/XMLSchema#string

Sally E Stringer

http://www.w3.org/2001/XMLSchema#string

P2860

Multiple osteochondromas

A direct interaction between EXT proteins and glycosyltransferases is defective in hereditary multiple exostoses

The putative tumor suppressors EXT1 and EXT2 form a stable complex that accumulates in the Golgi apparatus and catalyzes the synthesis of heparan sulfate

The putative tumour suppressor EXT1 alters the expression of cell-surface heparan sulfate

Contribution of EXT1, EXT2, and EXTL3 to heparan sulfate chain elongation

EXT-mutation analysis and loss of heterozygosity in sporadic and hereditary osteochondromas and secondary chondrosarcomas.

Mutation and cancer: statistical study of retinoblastoma

Diminished levels of the putative tumor suppressor proteins EXT1 and EXT2 in exostosis chondrocytes

The putative tumor suppressors EXT1 and EXT2 are glycosyltransferases required for the biosynthesis of heparan sulfate

Disruption of gastrulation and heparan sulfate biosynthesis in EXT1-deficient mice

P304

1946-1957

http://www.w3.org/2001/XMLSchema#string

P31

scholarly article

P356

10.2353/AJPATH.2010.100296

http://www.w3.org/2001/XMLSchema#string

P407

P433

4

http://www.w3.org/2001/XMLSchema#string

P478

177

http://www.w3.org/2001/XMLSchema#string

P50

P577

2010-09-02T00:00:00Z

http://www.w3.org/2001/XMLSchema#dateTime

P5875

46124459

http://www.w3.org/2001/XMLSchema#string

P698

20813973

http://www.w3.org/2001/XMLSchema#string

P921

haploinsufficiency

P932

2947289

http://www.w3.org/2001/XMLSchema#string