Lista de obras - Petra Seemann - Dominio Público Uruguay

A GDF5 point mutation strikes twice--causing BDA1 and SYNS2

artículo científico publicado en 2013

A hypomorphic BMPR1B mutation causes du Pan acromesomelic dysplasia

artículo científico publicado en 2015

A new subtype of brachydactyly type B caused by point mutations in the bone morphogenetic protein antagonist NOGGIN.

artículo científico publicado en 2007

A novel R486Q mutation in BMPR1B resulting in either a brachydactyly type C/symphalangism-like phenotype or brachydactyly type A2.

artículo científico publicado en 2006

ACVR1 p.Q207E causes classic fibrodysplasia ossificans progressiva and is functionally distinct from the engineered constitutively active ACVR1 p.Q207D variant

artículo científico publicado en 2014

Activating and deactivating mutations in the receptor interaction site of GDF5 cause symphalangism or brachydactyly type A2

artículo científico publicado en 2005

BMPs in bone regeneration: Less is more effective, a paradigm-shift

artículo científico publicado en 2015

Biophysical and structural characterization of a folded core domain within the proregion of growth and differentiation factor-5

artículo científico publicado en 2014

Brachydactyly Type C patient with compound heterozygosity for p.Gly319Val and p.Ile358Thr variants in the GDF5 proregion: benign variants or mutations?

artículo científico publicado en 2015

Brachydactyly type A2 associated with a defect in proGDF5 processing

artículo científico publicado en 2008

Classic and atypical fibrodysplasia ossificans progressiva (FOP) phenotypes are caused by mutations in the bone morphogenetic protein (BMP) type I receptor ACVR1

artículo científico publicado en 2009

Clinical Utility Gene Card for: Fibrodysplasia ossificans progressiva.

artículo científico publicado en 2015

Copy-number variations involving the IHH locus are associated with syndactyly and craniosynostosis

artículo científico publicado en 2010

Deletion and point mutations of PTHLH cause brachydactyly type E.

artículo científico publicado en 2010

Detection of hemolytic bacteria from Palythoa caribaeorum (Cnidaria, Zoantharia) using a novel palytoxin-screening assay

artículo científico publicado en 2009

Distinct global shifts in genomic binding profiles of limb malformation-associated HOXD13 mutations

scientific journal article

Duplications involving a conserved regulatory element downstream of BMP2 are associated with brachydactyly type A2.

artículo científico publicado en 2009

Functional analysis of alleged NOGGIN mutation G92E disproves its pathogenic relevance

artículo científico publicado en 2012

Generation of integration free induced pluripotent stem cells from fibrodysplasia ossificans progressiva (FOP) patients from urine samples.

artículo científico publicado en 2015

Homozygous missense and nonsense mutations in BMPR1B cause acromesomelic chondrodysplasia-type Grebe

scientific journal article

Improved bone defect healing by a superagonistic GDF5 variant derived from a patient with multiple synostoses syndrome.

artículo científico publicado en 2014

Investigations of activated ACVR1/ALK2, a bone morphogenetic protein type I receptor, that causes fibrodysplasia ossificans progressiva.

artículo científico publicado en 2010

Limb specific Acvr1-knockout during embryogenesis in mice exhibits great toe malformation as seen in Fibrodysplasia Ossificans Progressiva (FOP)

artículo científico publicado en 2019

Molecular analysis of two novel missense mutations in the GDF5 proregion that reduce protein activity and are associated with brachydactyly type C

artículo científico publicado en 2014

Mutations in GDF5 reveal a key residue mediating BMP inhibition by NOGGIN

scientific journal article

Mutations in PYCR1 cause cutis laxa with progeroid features

artículo científico publicado en 2009

Mutations in WNT7A cause a range of limb malformations, including Fuhrmann syndrome and Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome

artículo científico publicado en 2006

Mutations in bone morphogenetic protein receptor 1B cause brachydactyly type A2

artículo científico publicado en 2003

Myostatin in tendon maintenance and repair

artículo científico publicado en 2009

Odd-skipped related genes regulate differentiation of embryonic limb mesenchyme and bone marrow mesenchymal stromal cells.

artículo científico publicado en 2011

Selective cell targeting and lineage tracing of human induced pluripotent stem cells using recombinant avian retroviruses.

artículo científico publicado en 2015

Selenoprotein P is the essential selenium transporter for bones

artículo científico publicado en 2014

Skeletal metamorphosis in fibrodysplasia ossificans progressiva (FOP)

artículo científico publicado en 2008

Somatic mutation profiles of MSI and MSS colorectal cancer identified by whole exome next generation sequencing and bioinformatics analysis

artículo científico publicado en 2010

The fibrodysplasia ossificans progressiva R206H ACVR1 mutation activates BMP-independent chondrogenesis and zebrafish embryo ventralization

scientific article published on 12 October 2009

Time kinetics of bone defect healing in response to BMP-2 and GDF-5 characterised by in vivo biomechanics ⬇️

artículo científico publicado el 11 de febrero de 2011

Trace element and cytokine concentrations in patients with Fibrodysplasia Ossificans Progressiva (FOP): A case control study

artículo científico publicado en 2016

Treatment with recombinant human bone morphogenetic protein 7 leads to a transient induction of neutralizing autoantibodies in a subset of patients.

artículo científico publicado en 2016

Lista de obras de Petra Seemann

A GDF5 point mutation strikes twice--causing BDA1 and SYNS2

A hypomorphic BMPR1B mutation causes du Pan acromesomelic dysplasia

A new subtype of brachydactyly type B caused by point mutations in the bone morphogenetic protein antagonist NOGGIN.

A novel R486Q mutation in BMPR1B resulting in either a brachydactyly type C/symphalangism-like phenotype or brachydactyly type A2.

ACVR1 p.Q207E causes classic fibrodysplasia ossificans progressiva and is functionally distinct from the engineered constitutively active ACVR1 p.Q207D variant

Activating and deactivating mutations in the receptor interaction site of GDF5 cause symphalangism or brachydactyly type A2

BMPs in bone regeneration: Less is more effective, a paradigm-shift

Biophysical and structural characterization of a folded core domain within the proregion of growth and differentiation factor-5

Brachydactyly Type C patient with compound heterozygosity for p.Gly319Val and p.Ile358Thr variants in the GDF5 proregion: benign variants or mutations?

Brachydactyly type A2 associated with a defect in proGDF5 processing

Classic and atypical fibrodysplasia ossificans progressiva (FOP) phenotypes are caused by mutations in the bone morphogenetic protein (BMP) type I receptor ACVR1

Clinical Utility Gene Card for: Fibrodysplasia ossificans progressiva.

Copy-number variations involving the IHH locus are associated with syndactyly and craniosynostosis

Deletion and point mutations of PTHLH cause brachydactyly type E.

Detection of hemolytic bacteria from Palythoa caribaeorum (Cnidaria, Zoantharia) using a novel palytoxin-screening assay

Distinct global shifts in genomic binding profiles of limb malformation-associated HOXD13 mutations

Duplications involving a conserved regulatory element downstream of BMP2 are associated with brachydactyly type A2.

Functional analysis of alleged NOGGIN mutation G92E disproves its pathogenic relevance

Generation of integration free induced pluripotent stem cells from fibrodysplasia ossificans progressiva (FOP) patients from urine samples.

Homozygous missense and nonsense mutations in BMPR1B cause acromesomelic chondrodysplasia-type Grebe

Improved bone defect healing by a superagonistic GDF5 variant derived from a patient with multiple synostoses syndrome.

Investigations of activated ACVR1/ALK2, a bone morphogenetic protein type I receptor, that causes fibrodysplasia ossificans progressiva.

Limb specific Acvr1-knockout during embryogenesis in mice exhibits great toe malformation as seen in Fibrodysplasia Ossificans Progressiva (FOP)

Molecular analysis of two novel missense mutations in the GDF5 proregion that reduce protein activity and are associated with brachydactyly type C

Mutations in GDF5 reveal a key residue mediating BMP inhibition by NOGGIN

Mutations in PYCR1 cause cutis laxa with progeroid features

Mutations in WNT7A cause a range of limb malformations, including Fuhrmann syndrome and Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome

Mutations in bone morphogenetic protein receptor 1B cause brachydactyly type A2

Myostatin in tendon maintenance and repair

Odd-skipped related genes regulate differentiation of embryonic limb mesenchyme and bone marrow mesenchymal stromal cells.

Selective cell targeting and lineage tracing of human induced pluripotent stem cells using recombinant avian retroviruses.

Selenoprotein P is the essential selenium transporter for bones

Skeletal metamorphosis in fibrodysplasia ossificans progressiva (FOP)

Somatic mutation profiles of MSI and MSS colorectal cancer identified by whole exome next generation sequencing and bioinformatics analysis

The fibrodysplasia ossificans progressiva R206H ACVR1 mutation activates BMP-independent chondrogenesis and zebrafish embryo ventralization

Time kinetics of bone defect healing in response to BMP-2 and GDF-5 characterised by in vivo biomechanics ⬇️

Trace element and cytokine concentrations in patients with Fibrodysplasia Ossificans Progressiva (FOP): A case control study

Treatment with recombinant human bone morphogenetic protein 7 leads to a transient induction of neutralizing autoantibodies in a subset of patients.