about
Mutations in WNT7A cause a range of limb malformations, including Fuhrmann syndrome and Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndromeMutations in bone morphogenetic protein receptor 1B cause brachydactyly type A2Molecular analysis of two novel missense mutations in the GDF5 proregion that reduce protein activity and are associated with brachydactyly type CBiophysical and structural characterization of a folded core domain within the proregion of growth and differentiation factor-5Activating and deactivating mutations in the receptor interaction site of GDF5 cause symphalangism or brachydactyly type A2Mutations in PYCR1 cause cutis laxa with progeroid featuresA GDF5 point mutation strikes twice--causing BDA1 and SYNS2Mutations in GDF5 reveal a key residue mediating BMP inhibition by NOGGINHomozygous missense and nonsense mutations in BMPR1B cause acromesomelic chondrodysplasia-type GrebeDistinct global shifts in genomic binding profiles of limb malformation-associated HOXD13 mutationsA hypomorphic BMPR1B mutation causes du Pan acromesomelic dysplasiaClassic and atypical fibrodysplasia ossificans progressiva (FOP) phenotypes are caused by mutations in the bone morphogenetic protein (BMP) type I receptor ACVR1Functional analysis of alleged NOGGIN mutation G92E disproves its pathogenic relevance.Deletion and point mutations of PTHLH cause brachydactyly type E.Somatic mutation profiles of MSI and MSS colorectal cancer identified by whole exome next generation sequencing and bioinformatics analysis.ACVR1 p.Q207E causes classic fibrodysplasia ossificans progressiva and is functionally distinct from the engineered constitutively active ACVR1 p.Q207D variantCopy-number variations involving the IHH locus are associated with syndactyly and craniosynostosis.A new subtype of brachydactyly type B caused by point mutations in the bone morphogenetic protein antagonist NOGGIN.Clinical Utility Gene Card for: Fibrodysplasia ossificans progressiva.Skeletal metamorphosis in fibrodysplasia ossificans progressiva (FOP)Duplications involving a conserved regulatory element downstream of BMP2 are associated with brachydactyly type A2.Treatment with recombinant human bone morphogenetic protein 7 leads to a transient induction of neutralizing autoantibodies in a subset of patients.The fibrodysplasia ossificans progressiva R206H ACVR1 mutation activates BMP-independent chondrogenesis and zebrafish embryo ventralization.Investigations of activated ACVR1/ALK2, a bone morphogenetic protein type I receptor, that causes fibrodysplasia ossificans progressiva.BMPs in bone regeneration: Less is more effective, a paradigm-shift.Trace element and cytokine concentrations in patients with Fibrodysplasia Ossificans Progressiva (FOP): A case control study.Generation of integration free induced pluripotent stem cells from fibrodysplasia ossificans progressiva (FOP) patients from urine samples.Brachydactyly Type C patient with compound heterozygosity for p.Gly319Val and p.Ile358Thr variants in the GDF5 proregion: benign variants or mutations?Selective cell targeting and lineage tracing of human induced pluripotent stem cells using recombinant avian retroviruses.Brachydactyly type A2 associated with a defect in proGDF5 processing.Selenoprotein P is the essential selenium transporter for bones.Detection of hemolytic bacteria from Palythoa caribaeorum (Cnidaria, Zoantharia) using a novel palytoxin-screening assay.Odd-skipped related genes regulate differentiation of embryonic limb mesenchyme and bone marrow mesenchymal stromal cells.A novel R486Q mutation in BMPR1B resulting in either a brachydactyly type C/symphalangism-like phenotype or brachydactyly type A2.Improved bone defect healing by a superagonistic GDF5 variant derived from a patient with multiple synostoses syndrome.Myostatin in tendon maintenance and repairLimb specific Acvr1-knockout during embryogenesis in mice exhibits great toe malformation as seen in Fibrodysplasia Ossificans Progressiva (FOP)
P50
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P50
description
hulumtuese
@sq
onderzoeker
@nl
researcher
@en
հետազոտող
@hy
name
Petra Seemann
@ast
Petra Seemann
@en
Petra Seemann
@es
Petra Seemann
@nl
Petra Seemann
@sl
type
label
Petra Seemann
@ast
Petra Seemann
@en
Petra Seemann
@es
Petra Seemann
@nl
Petra Seemann
@sl
prefLabel
Petra Seemann
@ast
Petra Seemann
@en
Petra Seemann
@es
Petra Seemann
@nl
Petra Seemann
@sl
P1053
G-3606-2011
P106
P21
P31
P3829
P496
0000-0002-6056-6669