about
Molecular analysis of two novel missense mutations in the GDF5 proregion that reduce protein activity and are associated with brachydactyly type CA hypomorphic BMPR1B mutation causes du Pan acromesomelic dysplasiaACVR1 p.Q207E causes classic fibrodysplasia ossificans progressiva and is functionally distinct from the engineered constitutively active ACVR1 p.Q207D variantMolecular and functional heterogeneity of early postnatal porcine satellite cell populations is associated with bioenergetic profile.Brachydactyly Type C patient with compound heterozygosity for p.Gly319Val and p.Ile358Thr variants in the GDF5 proregion: benign variants or mutations?The Fibrodysplasia Ossificans Progressiva (FOP) mutation p.R206H in ACVR1 confers an altered ligand response.Separation of functionally divergent muscle precursor cell populations from porcine juvenile muscles by discontinuous Percoll density gradient centrifugation.Effects of trypsinization and of a combined trypsin, collagenase, and DNase digestion on liberation and in vitro function of satellite cells isolated from juvenile porcine muscles.Limb specific Acvr1-knockout during embryogenesis in mice exhibits great toe malformation as seen in Fibrodysplasia Ossificans Progressiva (FOP)
P50
Q24301626-70808C1C-4710-436E-96EB-F70FB3748F3DQ28647893-99E96B6E-FDFC-4C06-BBFA-E1D8F12DE3A1Q34211818-4990BAED-20D8-4F26-A7FC-A493F6A2B643Q37721483-F0F97AE7-A62B-4084-93C1-11196AD182EEQ40917906-71266472-1F44-4477-8E42-FC03C20CE619Q42500179-3B48E066-19EE-4523-8EC0-F8DEF0692034Q52727588-F6D9667E-C567-44DB-8B19-6EC8EC91D6A3Q55279411-B10ED9DC-E0D1-48B9-8523-FF37CF6DE90FQ64039984-90B41738-8ACC-4458-9A9F-2090755D9091
P50
description
onderzoeker
@nl
researcher
@en
հետազոտող
@hy
name
Katja Stange
@ast
Katja Stange
@en
Katja Stange
@es
Katja Stange
@nl
type
label
Katja Stange
@ast
Katja Stange
@en
Katja Stange
@es
Katja Stange
@nl
prefLabel
Katja Stange
@ast
Katja Stange
@en
Katja Stange
@es
Katja Stange
@nl
P106
P31
P496
0000-0002-8416-2204