Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias.
about
The evolution of extracellular fibrillins and their functional domainsHuman genome sequencing in health and diseaseA disintegrin-like and metalloprotease domain containing thrombospondin type 1 motif-like 5 (ADAMTSL5) is a novel fibrillin-1-, fibrillin-2-, and heparin-binding member of the ADAMTS superfamily containing a netrin-like moduleEducational paper. Connective tissue disorders with vascular involvement: from gene to therapyAbnormal Activation of BMP Signaling Causes Myopathy in Fbn2 Null MiceMicroenvironmental regulation by fibrillin-1Structure of the Fibrillin-1 N-Terminal Domains Suggests that Heparan Sulfate Regulates the Early Stages of Microfibril AssemblyADAMTS proteins as modulators of microfibril formation and functionNovel SMAD4 mutation causing Myhre syndromeRare variants in FBN1 and FBN2 are associated with severe adolescent idiopathic scoliosisThe ADAMTS(L) family and human genetic disordersAdvances in Skeletal Dysplasia GeneticsAdamtsl2 deletion results in bronchial fibrillin microfibril accumulation and bronchial epithelial dysplasia--a novel mouse model providing insights into geleophysic dysplasiaElevated transforming growth factor β1 in plasma of primary open-angle glaucoma patientsMutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome.Fibrillin-1 mutations causing Weill-Marchesani syndrome and acromicric and geleophysic dysplasias disrupt heparan sulfate interactionsA restricted spectrum of mutations in the SMAD4 tumor-suppressor gene underlies Myhre syndrome.A pilot study of gene testing of genetic bone dysplasia using targeted next-generation sequencing.Complex contributions of fibronectin to initiation and maturation of microfibrilsMatrix-dependent perturbation of TGFβ signaling and diseaseFibrillin-containing microfibrils are key signal relay stations for cell function.Genetic dissection of marfan syndrome and related connective tissue disorders: an update 2012.Next-generation sequencing for disorders of low and high bone mineral density.Extracellular Regulation of Bone Morphogenetic Protein Activity by the Microfibril Component Fibrillin-1.ADAMTS-10 and -6 differentially regulate cell-cell junctions and focal adhesions.Two Patients with Severe Short Stature due to a FBN1 Mutation (p.Ala1728Val) with a Mild Form of Acromicric Dysplasia.Unusual life cycle and impact on microfibril assembly of ADAMTS17, a secreted metalloprotease mutated in genetic eye disease.From tall to short: the role of TGFβ signaling in growth and its disorders.Height matters-from monogenic disorders to normal variation.Exome sequencing greatly expedites the progressive research of Mendelian diseases.The microfibril hypothesis of glaucoma: implications for treatment of elevated intraocular pressure.Myhre syndrome.Molecular and cellular basis of scleroderma.¹H, ¹³C and ¹⁵N assignments of the four N-terminal domains of human fibrillin-1.Chondrodysplasias and TGFβ signaling.Regulation of the Bioavailability of TGF-β and TGF-β-Related Proteins.Leri's pleonosteosis, a congenital rheumatic disease, results from microduplication at 8q22.1 encompassing GDF6 and SDC2 and provides insight into systemic sclerosis pathogenesis.Genetics of Short Stature.Immunolocalisation of fibrillin microfibrils in the calf metacarpal and vertebral growth plate.A microfibril assembly assay identifies different mechanisms of dominance underlying Marfan syndrome, stiff skin syndrome and acromelic dysplasias
P2860
Q21134722-1D13A147-3472-4ADE-AF2D-E2D90D937F57Q22065433-816B1337-7D9F-4263-8F10-ACD47AB2BB66Q24299512-98186E1A-1D2E-49EA-975A-119D32AD23BAQ26853455-93CDFEBA-CC21-4D38-8297-CFACE71864DAQ27310854-F000AE41-5EA5-49CB-AC80-48CB7BFB1AD4Q27335289-CF58078A-5332-450F-9059-5DD9C65D344DQ27679940-09003D33-11CA-4EA2-9C06-9B057FD691F7Q28084468-D60C82DF-9F8C-48D8-82EB-8D9F5CF67479Q28237812-6819230C-9F0F-4B7D-A630-C5D88063CC41Q28240167-DDA6C977-9240-43E7-9F8A-F42F6DA22E5AQ28246781-41FFAF47-55A0-40CF-8D16-2BBC4E058363Q28261525-9B9EC553-A9EF-429D-A278-86238CA69BC7Q28590927-E5CA1260-5F42-4968-8101-1991BB6DB59EQ34082167-9DD4271E-57C2-487B-B024-76F6D6F718CBQ34239845-A60145AF-C64A-43F0-BE4A-DB71A84053E3Q34469801-59449B43-E376-4642-A9E0-A4CFF5A7792EQ35671221-2529366A-9F2B-4E5F-A1C8-5429B1282F25Q35777781-BF2A76DE-3553-42FE-A854-1292B1F8D29EQ35997870-99B51B58-B25A-4224-BB55-295886408BFBQ36184322-0DA453BA-E8AF-42A2-8441-5AF297D40ED2Q36470965-E31198DC-ABEF-45EE-9783-F409687E9317Q36526049-7130A840-0BB9-466A-9CF1-3EF72F0E9365Q37004612-F9C81060-3FCB-42C3-8198-0778C490BAE0Q37066518-9C22A12B-4D96-4562-A8B2-DB5963792D16Q37363956-B0DFCBB6-D2F1-4F9A-A93D-AAEE4541DB32Q37470127-6ACEB63D-BCC2-45CE-97E5-363C929A125FQ37630738-D5186C17-EDAC-40DB-9A24-190826AA268CQ38026013-0D886A52-64E1-4BFE-9DEA-D8CE95B27F3BQ38075771-98EDB21D-7F45-4BF2-B03F-2A71D1D581F2Q38175288-3F6EB85C-F95B-43EB-BFDF-C5B341AD5904Q38187467-ECEE5C8C-EA90-49F5-BB9D-5B468AE01AD7Q38192096-975A5CC4-AEF7-4DDC-8DA0-5E840145DBBCQ38230276-C7C0C9A9-531D-449E-BDD9-268E7285BAB3Q38284297-6C2622C6-03BA-4C74-BEB5-A6684B8BF506Q38387152-588CCC25-8127-4540-A925-C543270F78D2Q38851167-400C81CF-AD07-45D1-895B-32D471A4B37AQ39268784-0E7B4CA2-19AD-4F2A-865E-5D709D14E3CDQ39286284-9C6CD072-3CD8-44C6-9C31-E50CAB49E17EQ40143120-20EFCD4C-2A20-426B-964B-EC8AA92B41E3Q41373533-F95B0E22-9FE8-42BB-89E8-49FCC30AE2B6
P2860
Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias.
description
2011 nî lūn-bûn
@nan
2011 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
2011 թվականի հունիսին հրատարակված գիտական հոդված
@hy
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
name
Mutations in the TGFβ binding- ...... ic and geleophysic dysplasias.
@ast
Mutations in the TGFβ binding- ...... ic and geleophysic dysplasias.
@en
type
label
Mutations in the TGFβ binding- ...... ic and geleophysic dysplasias.
@ast
Mutations in the TGFβ binding- ...... ic and geleophysic dysplasias.
@en
prefLabel
Mutations in the TGFβ binding- ...... ic and geleophysic dysplasias.
@ast
Mutations in the TGFβ binding- ...... ic and geleophysic dysplasias.
@en
P2093
P2860
P50
P1476
Mutations in the TGFβ binding- ...... ic and geleophysic dysplasias.
@en
P2093
André Mégarbane
Angela F Brady
Avinash Abhyankar
Bernhard Zabel
Clémentine Mahaut
Damien Bonnet
David Genevieve
David L Rimoin
David Sillence
Deborah Krakow
P2860
P356
10.1016/J.AJHG.2011.05.012
P407
P50
P577
2011-06-16T00:00:00Z