Mutations of TGFbeta signaling molecules in human disease

scientific article published on January 2006

Mutations of TGFbeta signaling molecules in human disease is …
instance of (P31):
scholarly articleQ13442814
review articleQ7318358

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P356DOI10.1080/07853890600919911
P698PubMed publication ID17008304

P50authorRosemary J AkhurstQ91233041
P2093author name stringKelly A Harradine
P2860cites workLeft-right axis malformations associated with mutations in ACVR2B, the gene for human activin receptor type IIBQ22008707
DRAGON, a bone morphogenetic protein co-receptorQ24292739
Mutations in bone morphogenetic protein receptor 1B cause brachydactyly type A2Q24296798
Myostatin mutation associated with gross muscle hypertrophy in a childQ24297666
Functional analysis of bone morphogenetic protein type II receptor mutations underlying primary pulmonary hypertensionQ24298704
Fibrillin, a new 350-kD glycoprotein, is a component of extracellular microfibrilsQ24299279
Molecular and functional analysis identifies ALK-1 as the predominant cause of pulmonary hypertension related to hereditary haemorrhagic telangiectasiaQ24302138
Emilin1 links TGF-beta maturation to blood pressure homeostasisQ24307505
Bone morphogenetic protein signaling by hemojuvelin regulates hepcidin expressionQ24316099
A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressivaQ24321505
Hypergonadotropic ovarian failure associated with an inherited mutation of human bone morphogenetic protein-15 (BMP15) geneQ24533489
Inactivation of smad-transforming growth factor beta signaling by Ca(2+)-calmodulin-dependent protein kinase IIQ24551154
Marfan's syndromeQ24553344
Pathogenetic sequence for aneurysm revealed in mice underexpressing fibrillin-1Q24651261
Camurati-Engelmann disease: review of the clinical, radiological, and molecular data of 24 families and implications for diagnosis and treatmentQ24655306
The integrin alpha v beta 6 binds and activates latent TGF beta 1: a mechanism for regulating pulmonary inflammation and fibrosisQ28137622
TGFbeta signaling in growth control, cancer, and heritable disordersQ28142605
ALK2 functions as a BMP type I receptor and induces Indian hedgehog in chondrocytes during skeletal developmentQ28206311
Smad-dependent and Smad-independent pathways in TGF-beta family signallingQ28208250
Making sense of latent TGFbeta activationQ28217641
A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2Q28236792
Regulation of skeletal muscle mass in mice by a new TGF-beta superfamily memberQ28237287
Crystal structure of BMP-9 and functional interactions with pro-region and receptorsQ28246829
Characterization of type I receptors for transforming growth factor-beta and activinQ28251169
Smads and early developmental signaling by the TGFbeta superfamilyQ28280601
Repulsive guidance molecule (RGMa), a DRAGON homologue, is a bone morphogenetic protein co-receptorQ28510682
Arteriovenous malformations in mice lacking activin receptor-like kinase-1Q28513355
The signaling pathway mediated by the type IIB activin receptor controls axial patterning and lateral asymmetry in the mouseQ28590247
Bone abnormalities in latent TGF-[beta] binding protein (Ltbp)-3-null mice indicate a role for Ltbp-3 in modulating TGF-[beta] bioavailabilityQ28591995
Cytostatic and apoptotic actions of TGF-beta in homeostasis and cancerQ29616379
Dysregulation of TGF-beta activation contributes to pathogenesis in Marfan syndromeQ29618845
Functional characterization and genetic mapping of alk8.Q31879070
Primary pulmonary hypertension. A national prospective studyQ33169642
Clinical heterogeneity in hereditary haemorrhagic telangiectasia: are pulmonary arteriovenous malformations more common in families linked to endoglin?Q33683412
Nodal signalling in vertebrate development.Q33833716
Conserved left-right asymmetry of nodal expression and alterations in murine situs inversus.Q34062451
Clinical and molecular genetic features of pulmonary hypertension in patients with hereditary hemorrhagic telangiectasia.Q34085780
A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4).Q34306976
Mutation in the gene for bone morphogenetic protein receptor II as a cause of primary pulmonary hypertension in a large kindredQ34325667
Heterozygous TGFBR2 mutations in Marfan syndromeQ34331334
Mutations in the activin receptor-like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2.Q34381015
A deletion in the bovine myostatin gene causes the double-muscled phenotype in cattleQ34438337
Domain-specific mutations in TGFB1 result in Camurati-Engelmann disease.Q34510617
Genetic variants of Tgfb1 act as context-dependent modifiers of mouse skin tumor susceptibility.Q34650188
Induction of intrahepatic cholangiocellular carcinoma by liver-specific disruption of Smad4 and Pten in miceQ34661807
Smad2 transduces common signals from receptor serine-threonine and tyrosine kinasesQ35201617
Ski and SnoN: negative regulators of TGF-beta signalingQ35756034
Transforming growth factor-beta1 to the boneQ36131663
Alterations in components of the TGF-beta superfamily signaling pathways in human cancerQ36323395
TGF beta inhibition for cancer therapyQ36651746
Four novel FBN1 mutations: significance for mutant transcript level and EGF-like domain calcium binding in the pathogenesis of Marfan syndromeQ38317023
Balancing the activation state of the endothelium via two distinct TGF-beta type I receptorsQ39646992
Nodal stability determines signaling range.Q40471853
Transforming growth factor-beta 1 mutations in Camurati-Engelmann disease lead to increased signaling by altering either activation or secretion of the mutant proteinQ40682198
Expression analysis of four endoglin missense mutations suggests that haploinsufficiency is the predominant mechanism for hereditary hemorrhagic telangiectasia type 1.Q40920042
Bone morphogenetic proteins in developmentQ41100028
TGFBR1*6A and cancer: a meta-analysis of 12 case-control studiesQ44765711
Mutations in the SMAD4/DPC4 gene in juvenile polyposisQ45345229
Association of the C-509-->T polymorphism, alone of in combination with the T869-->C polymorphism, of the transforming growth factor-beta1 gene with bone mineral density and genetic susceptibility to osteoporosis in Japanese womenQ45877098
Epistatic interactions between modifier genes confer strain-specific redundancy for Tgfb1 in developmental angiogenesisQ46191709
Mutations in transforming growth factor-beta receptor type II cause familial thoracic aortic aneurysms and dissectionsQ46606948
Nonoverlapping expression patterns of ALK1 and ALK5 reveal distinct roles of each receptor in vascular developmentQ46848207
Targetting of the gene encoding fibrillin-1 recapitulates the vascular aspect of Marfan syndrome.Q52192356
Mapping of a major genetic modifier of embryonic lethality in TGF beta 1 knockout mice.Q52196601
Targeted disruption in murine cells reveals variable requirement for Smad4 in transforming growth factor beta-related signaling.Q52537703
Heterozygous germline mutations in BMPR2, encoding a TGF-beta receptor, cause familial primary pulmonary hypertensionQ55670914
Investigation of Second Genetic Hits at the BMPR2 Locus as a Modulator of Disease Progression in Familial Pulmonary Arterial HypertensionQ57149199
A Mutation Affecting the Latency-Associated Peptide of TGFβ1 in Camurati-Engelmann Disease Enhances Osteoclast Formationin VitroQ57849108
Mutations in the gene encoding the latency-associated peptide of TGF-β1 cause Camurati-Engelmann diseaseQ57849197
P433issue6
P407language of work or nameEnglishQ1860
P304page(s)403-414
P577publication date2006-01-01
P1433published inAnnals of MedicineQ4767853
P1476titleMutations of TGFbeta signaling molecules in human disease
P478volume38

Reverse relations

cites work (P2860)
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Q33703833USP15 targets ALK3/BMPR1A for deubiquitylation to enhance bone morphogenetic protein signalling
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