4.2 Review

Review of familial cerebral cavernous malformations and report of seven additional families

相关参考文献

注意:仅列出部分参考文献,下载原文获取全部文献信息。
Review Biochemistry & Molecular Biology

Signaling pathways and the cerebral cavernous malformations proteins: lessons from structural biology

Oriana S. Fisher et al.

CELLULAR AND MOLECULAR LIFE SCIENCES (2014)

Review Clinical Neurology

Treatment of cerebral cavernous malformations: a systematic review and meta-regression analysis

Michiel H. F. Poorthuis et al.

JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2014)

Review Biochemistry & Molecular Biology

Cerebral cavernous malformation is a vascular disease associated with activated RhoA signaling

Bryan T. Richardson et al.

BIOLOGICAL CHEMISTRY (2013)

Article Clinical Neurology

Ultrastructural analysis of vascular features in cerebral cavernous malformations

Gamze Tanriover et al.

CLINICAL NEUROLOGY AND NEUROSURGERY (2013)

Review Biochemistry & Molecular Biology

Cutaneous Venous Malformations Related to KRIT1 Mutation: Case Report and Literature Review

Francesca Romana Grippaudo et al.

JOURNAL OF MOLECULAR NEUROSCIENCE (2013)

Review Biochemistry & Molecular Biology

Cerebral cavernous malformations: from CCM genes to endothelial cell homeostasis

Andreas Fischer et al.

TRENDS IN MOLECULAR MEDICINE (2013)

Review Biochemistry & Molecular Biology

Cerebral cavernous malformations: from molecular pathogenesis to genetic counselling and clinical management

Remco A. Haasdijk et al.

EUROPEAN JOURNAL OF HUMAN GENETICS (2012)

Article Biochemistry & Molecular Biology

A novel mouse model of cerebral cavernous malformations based on the two-hit mutation hypothesis recapitulates the human disease

David A. McDonald et al.

HUMAN MOLECULAR GENETICS (2011)

Article Biochemistry & Molecular Biology

Conditional deletion of Ccm2 causes hemorrhage in the adult brain: a mouse model of human cerebral cavernous malformations

Kirk Cunningham et al.

HUMAN MOLECULAR GENETICS (2011)

Article Developmental Biology

CCM2 expression during prenatal development and adult human neocortex

Gamze Tanriover et al.

INTERNATIONAL JOURNAL OF DEVELOPMENTAL NEUROSCIENCE (2011)

Editorial Material Cell Biology

Phosphorylation sites in the cerebral cavernous malformations complex

Jaehong Kim et al.

JOURNAL OF CELL SCIENCE (2011)

Article Medicine, Research & Experimental

Mutations in 2 distinct genetic pathways result in cerebral cavernous malformations in mice

Aubrey C. Chan et al.

JOURNAL OF CLINICAL INVESTIGATION (2011)

Article Immunology

Developmental timing of CCM2 loss influences cerebral cavernous malformations in mice

Gwenola Boulday et al.

JOURNAL OF EXPERIMENTAL MEDICINE (2011)

Article Cell Biology

A mechanism of Rap1-induced stabilization of endothelial cell-cell junctions

Jian J. Liu et al.

MOLECULAR BIOLOGY OF THE CELL (2011)

Article Cell Biology

Rap1 and its effector KRIT1/CCM1 regulate beta-catenin signaling

Angela J. Glading et al.

DISEASE MODELS & MECHANISMS (2010)

Review Biochemistry & Molecular Biology

Recent insights into cerebral cavernous malformations: animal models of CCM and the human phenotype

Aubrey C. Chan et al.

FEBS JOURNAL (2010)

Review Biochemistry & Molecular Biology

Recent insights into cerebral cavernous malformations: the molecular genetics of CCM

Florence Riant et al.

FEBS JOURNAL (2010)

Review Biochemistry & Molecular Biology

Recent insights into cerebral cavernous malformations: a complex jigsaw puzzle under construction

Eva Faurobert et al.

FEBS JOURNAL (2010)

Article Biochemistry & Molecular Biology

Rho Kinase Inhibition Rescues the Endothelial Cell Cerebral Cavernous Malformation Phenotype

Asya L. Borikova et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2010)

Article Cell Biology

CCM1 regulates vascular-lumen organization by inducing endothelial polarity

Maria Grazia Lampugnani et al.

JOURNAL OF CELL SCIENCE (2010)

Article Immunology

Cerebral cavernous malformations proteins inhibit Rho kinase to stabilize vascular integrity

Rebecca A. Stockton et al.

JOURNAL OF EXPERIMENTAL MEDICINE (2010)

Article Multidisciplinary Sciences

Cerebral cavernous malformation protein CCM1 inhibits sprouting angiogenesis by activating DELTA-NOTCH signaling

Joycelyn Wuestehube et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2010)

Article Surgery

Epidemiology of Cutaneous Vascular Neoplasms and Malformations in Childhood

A. Sidoroff

HANDCHIRURGIE MIKROCHIRURGIE PLASTISCHE CHIRURGIE (2009)

Article Biochemistry & Molecular Biology

Cerebral Cavernous Malformation 2 Protein Promotes Smad Ubiquitin Regulatory Factor 1-mediated RhoA Degradation in Endothelial Cells

Lisa E. S. Crose et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2009)

Review Clinical Neurology

CADASIL

Hugues Chabriat et al.

LANCET NEUROLOGY (2009)

Article Biochemistry & Molecular Biology

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

Kevin J. Whitehead et al.

NATURE MEDICINE (2009)

Article Clinical Neurology

CEREBRAL CAVERNOUS MALFORMATIONS: SOMATIC MUTATIONS IN VASCULAR ENDOTHELIAL CELLS

Judith Gault et al.

NEUROSURGERY (2009)

Article Biochemistry & Molecular Biology

ccm1 cell autonomously regulates endothelial cellular morphogenesis and vascular tubulogenesis in zebrafish

Benjamin M. Hogan et al.

HUMAN MOLECULAR GENETICS (2008)

Article Clinical Neurology

Krit1 modulates beta 1-integrin-mediated endothelial cell proliferation

Jun Zhang et al.

NEUROSURGERY (2008)

Article Clinical Neurology

Outcome in 53 patients with spinal cord cavernomas

Pierre Labauge et al.

SURGICAL NEUROLOGY (2008)

Review Clinical Neurology

Genetics of cavernous angiomas

Pierre Labouge et al.

LANCET NEUROLOGY (2007)

Article Clinical Neurology

Genotype-phenotype correlations in cerebral cavernous malformations patients

Christian Denier et al.

ANNALS OF NEUROLOGY (2006)

Article Developmental Biology

santa and valentine pattern concentric growth of cardiac myocardium in the zebrafish

John D. Mably et al.

DEVELOPMENT (2006)

Review Genetics & Heredity

Cerebral cavernous malformation: new molecular and clinical insights

N. Revencu et al.

JOURNAL OF MEDICAL GENETICS (2006)

Article Genetics & Heredity

Mutations within the programmed cell death 10 gene cause cerebral cavernous malformations

F Bergametti et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2005)

Article Clinical Neurology

Clinical features of cerebral cavernous malformations patients with KRIT1 mutations

C Denier et al.

ANNALS OF NEUROLOGY (2004)

Article Multidisciplinary Sciences

KRIT1, a gene mutated in cerebral cavernous malformation, encodes a microtubule-associated protein

M Gunel et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2002)

Article Clinical Neurology

Cerebral cavernous malformation: novel mutation in a Chinese family and evidence for heterogeneity

DH Chen et al.

JOURNAL OF THE NEUROLOGICAL SCIENCES (2002)

Article Dermatology

Skin changes in newborns in the first five days

S Lorenz et al.

HAUTARZT (2000)