List of works - Douglas A Marchuk

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

scientific article

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

scientific article

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

scientific article

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

scientific article published on July 1, 2011

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

scientific article

A highly polymorphic cDNA probe in the NF1 gene

scientific article

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

scientific article

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

scientific article

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

scientific article

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

scientific article

A yeast artificial chromosome contig encompassing the type 1 neurofibromatosis gene

scientific article published in July 1992

ADAM12: a genetic modifier of preclinical peripheral arterial disease

scientific article

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

scientific article

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

scientific article

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

scientific article

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

scientific article (publication date: 9 April 1999)

Brain Vascular Malformation Consortium: Overview, Progress and Future Directions

scientific article

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

scientific article

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

scientific article

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

scientific article

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

scientific article

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

scientific article (publication date: 2001)

Deletions in CCM2 are a common cause of cerebral cavernous malformations

scientific article

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

scientific article

Endoglin deficiency impairs stroke recovery

scientific article

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

scientific article

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

scientific article

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

scientific article

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

scientific article

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

scientific article

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

scientific article

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

scientific article

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

scientific article

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

scientific article

Impact of genetic polymorphisms on heart failure prognosis.

scientific article

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

scientific article (publication date: 15 February 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.

scientific article

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

scientific article

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

scientific article

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

scientific article

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

scientific article published on January 1, 1998

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

scientific article

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

scientific article (publication date: November 1999)

NF1-related locus on chromosome 15

scientific article published on August 1, 1992

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

scientific article (publication date: 2013)

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

scientific article

Novel Murine Models of Cerebral Cavernous Malformations

scientific article published on 24 July 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

scientific article

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

scientific article

Pathogenesis of hemangioma

scientific article

Remarkable conservation of structure among intermediate filament genes

scientific article

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

scientific article published on March 19, 1998

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

scientific article

Somatic mutation of vascular endothelial growth factor receptors in juvenile hemangioma

scientific article (publication date: March 2002)

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

scientific article published on July 1, 1997

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

scientific article

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

scientific article

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

scientific article published on October 1, 1992

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

scientific article

Tnni3k modifies disease progression in murine models of cardiomyopathy

scientific article (publication date: September 2009)

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

scientific article

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

scientific article

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

scientific article published on October 1, 1983

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

scientific article

Vascular morphogenesis: tales of two syndromes.

scientific article

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

scientific article

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

scientific article

List of works by Douglas A Marchuk

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 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