Lista de obras -

A BAG3 Coding Variant in Mice Determines Susceptibility to Ischemic Limb Muscle Myopathy by Directing Autophagy

artículo científico publicado en 2017

A chromosome jump crosses a translocation breakpoint in the von Recklinghausen neurofibromatosis region

artículo científico publicado en 1990

A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4).

artículo científico publicado en 2004

A founder mutation in the Ashkenazi Jewish population affecting messenger RNA splicing of the CCM2 gene causes cerebral cavernous malformations ⬇️

artículo científico publicado el 1 de julio de 2011

A gene for familial venous malformations maps to chromosome 9p in a second large kindred

artículo científico publicado en 1995

A highly polymorphic cDNA probe in the NF1 gene

artículo científico publicado en 1991

A kinesin heavy chain (KIF5A) mutation in hereditary spastic paraplegia (SPG10)

artículo científico publicado en 2002

A locus for cerebral cavernous malformations maps to chromosome 7q in two families

artículo científico publicado en 1995

A locus mapping to mouse chromosome 7 determines infarct volume in a mouse model of ischemic stroke

artículo científico publicado en 2009

A novel genetic locus modulates infarct volume independently of the extent of collateral circulation ⬇️

artículo científico publicado el 25 de junio de 2013

A second locus for hereditary hemorrhagic telangiectasia maps to chromosome 12.

artículo científico publicado en 1995

A yeast artificial chromosome contig encompassing the type 1 neurofibromatosis gene

artículo científico publicado en 1992

ADAM12: a genetic modifier of preclinical peripheral arterial disease

artículo científico publicado en 2015

ALK1 signalling analysis identifies angiogenesis related genes and reveals disparity between TGF-beta and constitutively active receptor induced gene expression

artículo científico publicado en 2006

Additional glomangioma families link to chromosome 1p: no evidence for genetic heterogeneity.

artículo científico publicado en 2001

Advanced magnetic resonance imaging of cerebral cavernous malformations: part II. Imaging of lesions in murine models

artículo científico publicado en 2008

Assignment of transforming growth factor beta1 and beta3 and a third new ligand to the type I receptor ALK-1

artículo científico publicado en 1999

Brain Vascular Malformation Consortium: Overview, Progress and Future Directions

artículo científico publicado en 2013

CCM1 and CCM2 protein interactions in cell signaling: implications for cerebral cavernous malformations pathogenesis

artículo científico publicado en 2005

Clinical heterogeneity in hereditary haemorrhagic telangiectasia: are pulmonary arteriovenous malformations more common in families linked to endoglin?

artículo científico publicado en 1996

Clinical manifestations in a large hereditary hemorrhagic telangiectasia (HHT) type 2 kindred

artículo científico publicado en 2000

Complete sequence of a gene encoding a human type I keratin: sequences homologous to enhancer elements in the regulatory region of the gene

artículo científico publicado en 1985

Computational and experimental analyses reveal previously undetected coding exons of the KRIT1 (CCM1) gene

artículo científico publicado en 2001

Deletions in CCM2 are a common cause of cerebral cavernous malformations

artículo científico publicado en 2007

Dissection of a quantitative trait locus for PR interval duration identifies Tnni3k as a novel modulator of cardiac conduction

artículo científico publicado en 2012

Endoglin deficiency impairs stroke recovery

artículo científico publicado en 2014

Endoglin, a TGF-beta binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1

artículo científico publicado en 1994

Endoglin, an ancillary TGFbeta receptor, is required for extraembryonic angiogenesis and plays a key role in heart development

scientific journal article

Exceptional aggressiveness of cerebral cavernous malformation disease associated with PDCD10 mutations

artículo científico publicado en 2014

Expression analysis of endoglin missense and truncation mutations: insights into protein structure and disease mechanisms.

artículo científico publicado en 2000

Functional conservation of human Spastin in a Drosophila model of autosomal dominant-hereditary spastic paraplegia

artículo científico publicado en 2010

Genetic heterogeneity in hereditary haemorrhagic telangiectasia: possible correlation with clinical phenotype

artículo científico publicado en 1994

Hereditary haemorrhagic telangiectasia: a questionnaire based study to delineate the different phenotypes caused by endoglin and ALK1 mutations

artículo científico publicado en 2003

Highly variable penetrance in subjects affected with cavernous cerebral angiomas (CCM) carrying novel CCM1 and CCM2 mutations.

artículo científico publicado en 2007

Human retroviral gag- and gag-pol-like proteins interact with the transforming growth factor-beta receptor activin receptor-like kinase 1

artículo científico publicado en 2005

Identification and expression analysis of spastin gene mutations in hereditary spastic paraplegia

artículo científico publicado en 2001

Impact of genetic polymorphisms on heart failure prognosis.

artículo científico publicado en 2003

KRIT1 association with the integrin-binding protein ICAP-1: a new direction in the elucidation of cerebral cavernous malformations (CCM1) pathogenesis

artículo científico publicado en 2002

Lesions from patients with sporadic cerebral cavernous malformations harbor somatic mutations in the CCM genes: evidence for a common biochemical pathway for CCM pathogenesis.

artículo científico publicado en 2014

Leveraging a Sturge-Weber Gene Discovery: An Agenda for Future Research

artículo científico publicado en 2016

Loss of p53 sensitizes mice with a mutation in Ccm1 (KRIT1) to development of cerebral vascular malformations.

artículo científico publicado en 2004

Low frequency of PDCD10 mutations in a panel of CCM3 probands: potential for a fourth CCM locus

artículo científico publicado en 2006

Mutation and expression analysis of the endoglin gene in hereditary hemorrhagic telangiectasia reveals null alleles ⬇️

artículo científico publicado el 1 de enero de 1998

Mutations in a gene encoding a novel protein containing a phosphotyrosine-binding domain cause type 2 cerebral cavernous malformations

artículo científico publicado en 2003

Mutations in the gene encoding KRIT1, a Krev-1/rap1a binding protein, cause cerebral cavernous malformations (CCM1)

artículo científico publicado en 1999

NF1-related locus on chromosome 15

artículo científico publicado el 1 de agosto de 1992

Natural genetic variation of integrin alpha L (Itgal) modulates ischemic brain injury in stroke

artículo científico publicado en 2013

No evidence for maternal-fetal microchimerism in infantile hemangioma: a molecular genetic investigation

artículo científico publicado en 2006

Novel Murine Models of Cerebral Cavernous Malformations

artículo científico publicado en 2020

Novel Neuroprotective Loci Modulating Ischemic Stroke Volume in Wild-Derived Inbred Mouse Strains

scientific article published on 05 September 2019

Novel missense and frameshift mutations in the activin receptor-like kinase-1 gene in hereditary hemorrhagic telangiectasia. Mutations in brief no. 164. Online

artículo científico publicado en 1998

Overexpression of TNNI3K, a cardiac-specific MAPKKK, promotes cardiac dysfunction

artículo científico publicado en 2012

Pathogenesis of hemangioma

artículo científico publicado en 2001

Remarkable conservation of structure among intermediate filament genes

artículo científico publicado en 1984

Report on the workshop on hereditary hemorrhagic telangiectasis, July 10-11, 1997 ⬇️

artículo científico publicado el 19 de marzo de 1998

Skeletal muscle-specific genetic determinants contribute to the differential strain-dependent effects of hindlimb ischemia in mice

artículo científico publicado en 2012

Somatic mutation of vascular endothelial growth factor receptors in juvenile hemangioma

artículo científico publicado en 2002

The Activin Receptor-Like Kinase 1 Gene: Genomic Structure and Mutations in Hereditary Hemorrhagic Telangiectasia Type 2 ⬇️

artículo científico publicado el 1 de julio de 1997

The NF1 locus encodes a protein functionally related to mammalian GAP and yeast IRA proteins

artículo científico publicado en 1990

The cerebral cavernous malformation signaling pathway promotes vascular integrity via Rho GTPases

artículo científico publicado en 2009

The gene for a novel epidermal antigen maps near the neurofibromatosis 1 gene

artículo científico publicado el 1 de octubre de 1992

The pathobiology of vascular malformations: insights from human and model organism genetics

artículo científico publicado en 2016

Tnni3k modifies disease progression in murine models of cardiomyopathy

artículo científico publicado en 2009

Two genes on A/J chromosome 18 are associated with susceptibility to Staphylococcus aureus infection by combined microarray and QTL analyses

artículo científico publicado en 2010

Type 1 neurofibromatosis gene: identification of a large transcript disrupted in three NF1 patients

artículo científico publicado en 1990

Type I and type II keratins have evolved from lower eukaryotes to form the epidermal intermediate filaments in mammalian skin ⬇️

artículo científico publicado el 1 de octubre de 1983

Vascular dysmorphogenesis caused by an activating mutation in the receptor tyrosine kinase TIE2

artículo científico publicado en 1996

Vascular morphogenesis: tales of two syndromes.

artículo científico publicado en 2003

cDNA cloning of the type 1 neurofibromatosis gene: complete sequence of the NF1 gene product

artículo científico publicado en 1991

cDNA sequence and genomic structure of EV12B, a gene lying within an intron of the neurofibromatosis type 1 gene

artículo científico publicado en 1991

Lista de obras de

A BAG3 Coding Variant in Mice Determines Susceptibility to Ischemic Limb Muscle Myopathy by Directing Autophagy

A chromosome jump crosses a translocation breakpoint in the von Recklinghausen neurofibromatosis region

A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4).

A founder mutation in the Ashkenazi Jewish population affecting messenger RNA splicing of the CCM2 gene causes cerebral cavernous malformations ⬇️

A gene for familial venous malformations maps to chromosome 9p in a second large kindred

A highly polymorphic cDNA probe in the NF1 gene

A kinesin heavy chain (KIF5A) mutation in hereditary spastic paraplegia (SPG10)

A locus for cerebral cavernous malformations maps to chromosome 7q in two families

A locus mapping to mouse chromosome 7 determines infarct volume in a mouse model of ischemic stroke

A novel genetic locus modulates infarct volume independently of the extent of collateral circulation ⬇️

A second locus for hereditary hemorrhagic telangiectasia maps to chromosome 12.

A yeast artificial chromosome contig encompassing the type 1 neurofibromatosis gene

ADAM12: a genetic modifier of preclinical peripheral arterial disease

ALK1 signalling analysis identifies angiogenesis related genes and reveals disparity between TGF-beta and constitutively active receptor induced gene expression

Additional glomangioma families link to chromosome 1p: no evidence for genetic heterogeneity.

Advanced magnetic resonance imaging of cerebral cavernous malformations: part II. Imaging of lesions in murine models

Assignment of transforming growth factor beta1 and beta3 and a third new ligand to the type I receptor ALK-1

Brain Vascular Malformation Consortium: Overview, Progress and Future Directions

CCM1 and CCM2 protein interactions in cell signaling: implications for cerebral cavernous malformations pathogenesis

Clinical heterogeneity in hereditary haemorrhagic telangiectasia: are pulmonary arteriovenous malformations more common in families linked to endoglin?

Clinical manifestations in a large hereditary hemorrhagic telangiectasia (HHT) type 2 kindred

Complete sequence of a gene encoding a human type I keratin: sequences homologous to enhancer elements in the regulatory region of the gene

Computational and experimental analyses reveal previously undetected coding exons of the KRIT1 (CCM1) gene

Deletions in CCM2 are a common cause of cerebral cavernous malformations

Dissection of a quantitative trait locus for PR interval duration identifies Tnni3k as a novel modulator of cardiac conduction

Endoglin deficiency impairs stroke recovery

Endoglin, a TGF-beta binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1

Endoglin, an ancillary TGFbeta receptor, is required for extraembryonic angiogenesis and plays a key role in heart development

Exceptional aggressiveness of cerebral cavernous malformation disease associated with PDCD10 mutations

Expression analysis of endoglin missense and truncation mutations: insights into protein structure and disease mechanisms.

Functional conservation of human Spastin in a Drosophila model of autosomal dominant-hereditary spastic paraplegia

Genetic heterogeneity in hereditary haemorrhagic telangiectasia: possible correlation with clinical phenotype

Hereditary haemorrhagic telangiectasia: a questionnaire based study to delineate the different phenotypes caused by endoglin and ALK1 mutations

Highly variable penetrance in subjects affected with cavernous cerebral angiomas (CCM) carrying novel CCM1 and CCM2 mutations.

Human retroviral gag- and gag-pol-like proteins interact with the transforming growth factor-beta receptor activin receptor-like kinase 1

Identification and expression analysis of spastin gene mutations in hereditary spastic paraplegia

Impact of genetic polymorphisms on heart failure prognosis.

KRIT1 association with the integrin-binding protein ICAP-1: a new direction in the elucidation of cerebral cavernous malformations (CCM1) pathogenesis

Lesions from patients with sporadic cerebral cavernous malformations harbor somatic mutations in the CCM genes: evidence for a common biochemical pathway for CCM pathogenesis.

Leveraging a Sturge-Weber Gene Discovery: An Agenda for Future Research

Loss of p53 sensitizes mice with a mutation in Ccm1 (KRIT1) to development of cerebral vascular malformations.

Low frequency of PDCD10 mutations in a panel of CCM3 probands: potential for a fourth CCM locus

Mutation and expression analysis of the endoglin gene in hereditary hemorrhagic telangiectasia reveals null alleles ⬇️

Mutations in a gene encoding a novel protein containing a phosphotyrosine-binding domain cause type 2 cerebral cavernous malformations

Mutations in the gene encoding KRIT1, a Krev-1/rap1a binding protein, cause cerebral cavernous malformations (CCM1)

NF1-related locus on chromosome 15

Natural genetic variation of integrin alpha L (Itgal) modulates ischemic brain injury in stroke

No evidence for maternal-fetal microchimerism in infantile hemangioma: a molecular genetic investigation

Novel Murine Models of Cerebral Cavernous Malformations

Novel Neuroprotective Loci Modulating Ischemic Stroke Volume in Wild-Derived Inbred Mouse Strains

Novel missense and frameshift mutations in the activin receptor-like kinase-1 gene in hereditary hemorrhagic telangiectasia. Mutations in brief no. 164. Online

Overexpression of TNNI3K, a cardiac-specific MAPKKK, promotes cardiac dysfunction

Pathogenesis of hemangioma

Remarkable conservation of structure among intermediate filament genes

Report on the workshop on hereditary hemorrhagic telangiectasis, July 10-11, 1997 ⬇️

Skeletal muscle-specific genetic determinants contribute to the differential strain-dependent effects of hindlimb ischemia in mice

Somatic mutation of vascular endothelial growth factor receptors in juvenile hemangioma

The Activin Receptor-Like Kinase 1 Gene: Genomic Structure and Mutations in Hereditary Hemorrhagic Telangiectasia Type 2 ⬇️

The NF1 locus encodes a protein functionally related to mammalian GAP and yeast IRA proteins

The cerebral cavernous malformation signaling pathway promotes vascular integrity via Rho GTPases

The gene for a novel epidermal antigen maps near the neurofibromatosis 1 gene

The pathobiology of vascular malformations: insights from human and model organism genetics

Tnni3k modifies disease progression in murine models of cardiomyopathy

Two genes on A/J chromosome 18 are associated with susceptibility to Staphylococcus aureus infection by combined microarray and QTL analyses

Type 1 neurofibromatosis gene: identification of a large transcript disrupted in three NF1 patients

Type I and type II keratins have evolved from lower eukaryotes to form the epidermal intermediate filaments in mammalian skin ⬇️

Vascular dysmorphogenesis caused by an activating mutation in the receptor tyrosine kinase TIE2

Vascular morphogenesis: tales of two syndromes.

cDNA cloning of the type 1 neurofibromatosis gene: complete sequence of the NF1 gene product

cDNA sequence and genomic structure of EV12B, a gene lying within an intron of the neurofibromatosis type 1 gene