Published in Hum Mol Genet on March 01, 1995
KRIT-1/CCM1 is a Rap1 effector that regulates endothelial cell cell junctions. J Cell Biol (2007) 2.92
Mutations within the programmed cell death 10 gene cause cerebral cavernous malformations. Am J Hum Genet (2004) 2.62
Mutations in a gene encoding a novel protein containing a phosphotyrosine-binding domain cause type 2 cerebral cavernous malformations. Am J Hum Genet (2003) 2.58
Mutations within the MGC4607 gene cause cerebral cavernous malformations. Am J Hum Genet (2004) 1.88
Control of cell adhesion dynamics by Rap1 signaling. Curr Opin Cell Biol (2009) 1.68
Stabilization of VEGFR2 signaling by cerebral cavernous malformation 3 is critical for vascular development. Sci Signal (2010) 1.68
KRIT1, a gene mutated in cerebral cavernous malformation, encodes a microtubule-associated protein. Proc Natl Acad Sci U S A (2002) 1.57
Cerebral cavernous malformation: new molecular and clinical insights. J Med Genet (2006) 1.52
Mapping a gene causing cerebral cavernous malformation to 7q11.2-q21. Proc Natl Acad Sci U S A (1995) 1.43
Loss of p53 sensitizes mice with a mutation in Ccm1 (KRIT1) to development of cerebral vascular malformations. Am J Pathol (2004) 1.30
Supratentorial cavernous haemangiomas and epilepsy: a review of the literature and case series. J Neurol Neurosurg Psychiatry (1999) 1.29
Deletions in CCM2 are a common cause of cerebral cavernous malformations. Am J Hum Genet (2006) 1.19
Apoptotic functions of PDCD10/CCM3, the gene mutated in cerebral cavernous malformation 3. Stroke (2009) 1.16
Hereditary haemorrhagic telangiectasia with extensive liver involvement is not caused by either HHT1 or HHT2. J Med Genet (1996) 1.10
Signaling pathways and the cerebral cavernous malformations proteins: lessons from structural biology. Cell Mol Life Sci (2013) 1.08
Different spectra of genomic deletions within the CCM genes between Italian and American CCM patient cohorts. Neurogenetics (2007) 0.94
Familial cavernous malformations in a large French kindred: mapping of the gene to the CCM1 locus on chromosome 7q. J Neurol Neurosurg Psychiatry (1997) 0.91
Defining the functional domain of programmed cell death 10 through its interactions with phosphatidylinositol-3,4,5-trisphosphate. PLoS One (2010) 0.91
The structure of the ternary complex of Krev interaction trapped 1 (KRIT1) bound to both the Rap1 GTPase and the heart of glass (HEG1) cytoplasmic tail. J Biol Chem (2013) 0.90
Krit1 missense mutations lead to splicing errors in cerebral cavernous malformation. Am J Hum Genet (2002) 0.89
PHACE syndrome is associated with intracranial cavernous malformations. Childs Nerv Syst (2016) 0.86
Intramedullary cavernoma presenting with hematomyelia: report of two girls. Childs Nerv Syst (2009) 0.85
PTEN/PI3K/Akt/VEGF signaling and the cross talk to KRIT1, CCM2, and PDCD10 proteins in cerebral cavernous malformations. Neurosurg Rev (2014) 0.84
Genetics of inherited human epilepsies. Dialogues Clin Neurosci (2001) 0.81
Extra-axial cavernous hemangioma: two case reports. Skull Base (2001) 0.79
Inherited cavernous malformations of the central nervous system: clinical and genetic features in 19 Swiss families. Neurosurg Rev (2009) 0.79
Nogo-B receptor deficiency causes cerebral vasculature defects during embryonic development in mice. Dev Biol (2015) 0.77
Surgical management of cavernous malformations presenting with drug-resistant epilepsy. Front Neurol (2012) 0.76
Genetics of cerebral cavernous malformations: current status and future prospects. J Neurosurg Sci (2015) 0.76
Introduction to cerebral cavernous malformation: a brief review. BMB Rep (2016) 0.76
Unexpected distribution of KRIT1 inside the nucleus: new insight in a complex molecular pathway. Eur J Histochem (2014) 0.76
Systems biology and proteomic analysis of cerebral cavernous malformation. Expert Rev Proteomics (2014) 0.76
CCM3/SERPINI1 bidirectional promoter variants in patients with cerebral cavernous malformations: a molecular and functional study. BMC Med Genet (2016) 0.75
Genetic aspects of cerebrovascular malformations. Interv Neuroradiol (2001) 0.75
Role of cytoskeletal proteins in cerebral cavernous malformation signaling pathways: a proteomic analysis. Mol Biosyst (2014) 0.75
Comprehensive human genetic maps: individual and sex-specific variation in recombination. Am J Hum Genet (1998) 19.35
Long homozygous chromosomal segments in reference families from the centre d'Etude du polymorphisme humain. Am J Hum Genet (1999) 10.94
Structure of the gene encoding the immunodominant surface antigen on the sporozoite of the human malaria parasite Plasmodium falciparum. Science (1984) 8.18
A proposed grading system for arteriovenous malformations. J Neurosurg (1986) 6.38
Ataxin-1 nuclear localization and aggregation: role in polyglutamine-induced disease in SCA1 transgenic mice. Cell (1998) 6.24
Glutamine repeats and neurodegeneration. Annu Rev Neurosci (2000) 6.06
Major histocompatibility antigens: the human (HLA-A, -B, -C) and murine (H-2K, H-2D) class I molecules. Cell (1981) 5.81
Comparison of human genetic and sequence-based physical maps. Nature (2001) 4.97
Chaperone suppression of aggregation and altered subcellular proteasome localization imply protein misfolding in SCA1. Nat Genet (1998) 4.27
Genetic mapping of a locus predisposing to human colorectal cancer. Science (1993) 4.12
A comprehensive human linkage map with centimorgan density. Cooperative Human Linkage Center (CHLC). Science (1994) 4.02
Identification of genes that modify ataxin-1-induced neurodegeneration. Nature (2000) 4.02
Spinocerebellar ataxia type 5 in a family descended from the grandparents of President Lincoln maps to chromosome 11. Nat Genet (1994) 3.89
Closing in on a breast cancer gene on chromosome 17q. Am J Hum Genet (1992) 3.89
Inflammatory and immune responses are impaired in mice deficient in intercellular adhesion molecule 1. Proc Natl Acad Sci U S A (1993) 3.57
Olfactory receptor-gene clusters, genomic-inversion polymorphisms, and common chromosome rearrangements. Am J Hum Genet (2001) 3.57
A collection of tri- and tetranucleotide repeat markers used to generate high quality, high resolution human genome-wide linkage maps. Hum Mol Genet (1995) 3.44
Estimation of pairwise relationships in the presence of genotyping errors. Am J Hum Genet (1998) 3.37
Ulcerative colitis and adenocarcinoma of the colon in G alpha i2-deficient mice. Nat Genet (1995) 3.29
Evidence for a mechanism predisposing to intergenerational CAG repeat instability in spinocerebellar ataxia type I. Nat Genet (1993) 3.28
Ataxin-1 with an expanded glutamine tract alters nuclear matrix-associated structures. Nature (1997) 3.16
Mutations in the gene encoding KRIT1, a Krev-1/rap1a binding protein, cause cerebral cavernous malformations (CCM1). Hum Mol Genet (1999) 3.15
A familial Alzheimer's disease locus on chromosome 1. Science (1995) 3.14
Genetic linkage evidence for a familial Alzheimer's disease locus on chromosome 14. Science (1992) 3.14
Integrated human genome-wide maps constructed using the CEPH reference panel. Nat Genet (1994) 3.06
The natural history of familial cavernous malformations: results of an ongoing study. J Neurosurg (1994) 3.06
Molecular cloning of a human histocompatibility antigen cDNA fragment. Proc Natl Acad Sci U S A (1980) 2.99
SCA1 transgenic mice: a model for neurodegeneration caused by an expanded CAG trinucleotide repeat. Cell (1995) 2.96
Survey of human and rat microsatellites. Genomics (1992) 2.92
Genetic heterogeneity, modes of inheritance, and risk estimates for a joint study of Caucasians with insulin-dependent diabetes mellitus. Am J Hum Genet (1988) 2.88
Civilian gunshot wounds to the head: a prospective study. Neurosurgery (1990) 2.77
A human major histocompatibility complex class I gene that encodes a protein with a shortened cytoplasmic segment. Proc Natl Acad Sci U S A (1987) 2.77
Risk of recurrent seizures after two unprovoked seizures. N Engl J Med (1998) 2.74
Assembly and maturation of HLA-A and HLA-B antigens in vivo. Cell (1979) 2.73
De novo formation of a central nervous system cavernous malformation: implications for predicting risk of hemorrhage. Case report and review of the literature. J Neurosurg (1997) 2.72
Polyglutamine expansion down-regulates specific neuronal genes before pathologic changes in SCA1. Nat Neurosci (2000) 2.72
Complete amino acid sequence of a papain-solubilized human histocompatibility antigen, HLA-B7. 2. Sequence determination and search for homologies. Biochemistry (1979) 2.71
Cerebral cavernous malformations. Incidence and familial occurrence. N Engl J Med (1988) 2.65
Genetic analysis of indefinite division in human cells: evidence for a cell senescence-related gene(s) on human chromosome 4. Proc Natl Acad Sci U S A (1991) 2.64
Relationship of perfusion pressure and size to risk of hemorrhage from arteriovenous malformations. J Neurosurg (1992) 2.61
Petrous carotid-to-intradural carotid saphenous vein graft for intracavernous giant aneurysm, tumor, and occlusive cerebrovascular disease. J Neurosurg (1990) 2.56
Rapid reorganization of resistance gene homologues in cereal genomes. Proc Natl Acad Sci U S A (1998) 2.53
Cloning and complete sequence of an HLA-A2 gene: analysis of two HLA-A alleles at the nucleotide level. J Immunol (1985) 2.43
Characterization of human crossover interference. Am J Hum Genet (2000) 2.42
Structure of crossreactive human histocompatibility antigens HLA-A28 and HLA-A2: possible implications for the generation of HLA polymorphism. Proc Natl Acad Sci U S A (1982) 2.36
A genome-wide search for susceptibility genes in human systemic lupus erythematosus sib-pair families. Proc Natl Acad Sci U S A (1998) 2.31
Linkage map of the human major histocompatibility complex including the tumor necrosis factor genes. Proc Natl Acad Sci U S A (1987) 2.31
Carbohydrate moiety of HLA antigens. Antigenic properties and amino acid sequences around the site of glycosylation. J Biol Chem (1977) 2.30
Regulatory mechanisms in cell-mediated immune responses. I. Regulation of mixed lymphocyte reactions by alloantigen-activated thymus-derived lymphocytes. J Exp Med (1974) 2.26
Mutation of the E6-AP ubiquitin ligase reduces nuclear inclusion frequency while accelerating polyglutamine-induced pathology in SCA1 mice. Neuron (1999) 2.25
Regulatory mechanisms in cell-mediated immune responses. III. I-region control of suppressor cell interaction with responder cells in mixed lymphocyte reactions. J Exp Med (1976) 2.24
Late angiographic follow-up review of surgically treated aneurysms. J Neurosurg (1999) 2.23
Genetic analysis of mammographic breast density in adult women: evidence of a gene effect. J Natl Cancer Inst (1997) 2.21
Genomewide search for type 2 diabetes susceptibility genes in four American populations. Am J Hum Genet (2000) 2.19
Regulatory mechanisms in cell-mediated immune responses. II. A genetically restricted suppressor of mixed lymphocyte reactions released by alloantigen-activated spleen cells. J Exp Med (1975) 2.18
Efficacy of murine malaria sporozoite vaccines: implications for human vaccine development. Science (1987) 2.17
A gene for congenital, recessive deafness DFNB3 maps to the pericentromeric region of chromosome 17. Nat Genet (1995) 2.16
Over-expression of inducible HSP70 chaperone suppresses neuropathology and improves motor function in SCA1 mice. Hum Mol Genet (2001) 2.13
Identification and characterization of the gene causing type 1 spinocerebellar ataxia. Nat Genet (1994) 2.13
Impact of traumatic subarachnoid hemorrhage on outcome in nonpenetrating head injury. Part II: Relationship to clinical course and outcome variables during acute hospitalization. J Trauma (1996) 2.13
Transfer and expression of three cloned human non-HLA-A,B,C class I major histocompatibility complex genes in mutant lymphoblastoid cells. Proc Natl Acad Sci U S A (1988) 2.12
Location of facioscapulohumeral muscular dystrophy gene on chromosome 4. Lancet (1990) 2.09
Mutations that impair a posttranscriptional step in expression of HLA-A and -B antigens. Proc Natl Acad Sci U S A (1985) 2.05
Improved set of short-tandem-repeat polymorphisms for screening the human genome. Am J Hum Genet (1997) 2.03
Purkinje cell expression of a mutant allele of SCA1 in transgenic mice leads to disparate effects on motor behaviors, followed by a progressive cerebellar dysfunction and histological alterations. J Neurosci (1997) 1.99
Sets of short tandem repeat polymorphisms for efficient linkage screening of the human genome. Hum Mol Genet (1995) 1.99
Reporting terminology for brain arteriovenous malformation clinical and radiographic features for use in clinical trials. Stroke (2001) 1.97
Incidental subcortical lesions identified on magnetic resonance imaging in the elderly. II. Postmortem pathological correlations. Stroke (1987) 1.96
Comparison of amino acid sequences of two human histocompatibility antigens, HLA-A2 and HLA-B7: location of putative alloantigenic sites. Proc Natl Acad Sci U S A (1979) 1.94
The Mla (powdery mildew) resistance cluster is associated with three NBS-LRR gene families and suppressed recombination within a 240-kb DNA interval on chromosome 5S (1HS) of barley. Genetics (1999) 1.93
The MRI appearance of cavernous malformations (angiomas). J Neurosurg (1987) 1.93
Isolation of HLA locus-specific DNA probes from the 3'-untranslated region. Proc Natl Acad Sci U S A (1984) 1.93
Homozygous parent affected sib pair method for detecting disease predisposing variants: application to insulin dependent diabetes mellitus. Genet Epidemiol (1993) 1.91
Biosynthesis and cell surface localization of nonglycosylated human histocompatibility antigens. J Immunol (1981) 1.91
Patients' fear of genetic discrimination by health insurers: the impact of legal protections. Genet Med (2001) 1.90
Neuregulin-2, a new ligand of ErbB3/ErbB4-receptor tyrosine kinases. Nature (1997) 1.90
Ethnic differences in asthma and associated phenotypes: collaborative study on the genetics of asthma. J Allergy Clin Immunol (2001) 1.89
Normal perfusion pressure breakthrough theory. Clin Neurosurg (1978) 1.87
Variants in intron 13 of the ELMO1 gene are associated with diabetic nephropathy in African Americans. Ann Hum Genet (2009) 1.85
The impact of ethnicity and sex on subclinical cardiovascular disease: the Diabetes Heart Study. Diabetologia (2005) 1.84
Plasmodium berghei: cloning of the circumsporozoite protein gene. Exp Parasitol (1987) 1.80
Alu repeats: a source for the genesis of primate microsatellites. Genomics (1995) 1.79
Characteristics and surgical treatment of dolichoectatic and fusiform aneurysms. J Neurosurg (1996) 1.79
Epitope map and processing scheme for the 195,000-dalton surface glycoprotein of Plasmodium falciparum merozoites deduced from cloned overlapping segments of the gene. Proc Natl Acad Sci U S A (1986) 1.77
Seizure recurrence after a 1st unprovoked seizure: an extended follow-up. Neurology (1990) 1.76
Redefined role of angiogenesis in the pathogenesis of dural arteriovenous malformations. J Neurosurg (1997) 1.75
Laws restricting health insurers' use of genetic information: impact on genetic discrimination. Am J Hum Genet (2000) 1.74
Repair of vertebral artery injury during anterior cervical decompression. Spine (Phila Pa 1976) (1994) 1.73
HLA-E. A novel HLA class I gene expressed in resting T lymphocytes. J Immunol (1988) 1.73
Polymorphism near the rat prolactin gene caused by insertion of an Alu-like element. Nature (1983) 1.72
Genome screening in human systemic lupus erythematosus: results from a second Minnesota cohort and combined analyses of 187 sib-pair families. Am J Hum Genet (2000) 1.72
The heavy chain of human histocompatibility antigen HLA-B7 contains an immunoglobulin-like region. Nature (1979) 1.70
Expression analysis of the ataxin-1 protein in tissues from normal and spinocerebellar ataxia type 1 individuals. Nat Genet (1995) 1.70
Magnetic resonance image of postcraniotomy retained cotton or rayon. Case illustration. J Neurosurg (1998) 1.70