Integral membrane protein 2B

Luyendijk W et al. (1986) Hereditary cerebral hemorrhage.

Clough JD et al. (1980) Familial late complement component (C6, C7) deficiency with chronic meningococcemia.

Wattendorff AR et al. (1982) Familial cerebral amyloid angiopathy presenting as recurrent cerebral haemorrhage.

Davis CA et al. (1980) Partial properdin deficiency.

Adams EM et al. (1983) Absence of the seventh component of complement in a patient with chronic meningococcemia presenting as vasculitis.

Strömgren E et al. (1970) Cataract, deafness, cerebellar ataxia, psychosis and dementia--a new syndrome.

Miller ME et al. (1970) A familial deficiency of the phagocytosis-enhancing activity of serum related to a dysfunction of the fifth component of complement (C5).

Jacobs JC et al. (1972) Fatal familial Leiner's disease: a deficiency of the opsonic activity of serum complement.

Simon C et al. (1965) [On a fatally progressing disease of 3 brothers under the picture of erythrodermia desquamativa Leiner].

Gray F et al. (1985) Leukoencephalopathy in diffuse hemorrhagic cerebral amyloid angiopathy.

Cosgrove GR et al. (1985) Cerebral amyloid angiopathy.

Gelfand EW et al. (1987) Inherited deficiency of properdin and C2 in a patient with recurrent bacteremia.

Egan LJ et al. (1994) Hereditary deficiency of the seventh component of complement and recurrent meningococcal infection: investigations of an Irish family using a novel haemolytic screening assay for complement activity and C7 M/N allotyping.

Zimran A et al. (1987) Hereditary complement deficiency in survivors of meningococcal disease: high prevalence of C7/C8 deficiency in Sephardic (Moroccan) Jews.

Mensink EJ et al. (1987) Immunodeficiency disease genes on the X chromosome.

Luyendijk W et al. (1988) Hereditary cerebral haemorrhage caused by cortical amyloid angiopathy.

Densen P et al. (1987) Familial properdin deficiency and fatal meningococcemia. Correction of the bactericidal defect by vaccination.

Glover MT et al. (1988) Syndrome of erythroderma, failure to thrive, and diarrhea in infancy: a manifestation of immunodeficiency.

Goonewardena P et al. (1988) Linkage analysis of the properdin deficiency gene: suggestion of a locus in the proximal part of the short arm of the X chromosome.

Schifferli JA et al. (1985) Meningococcal meningitis in the first case of complement deficiency.

Nürnberger W et al. (1989) Familial deficiency of the seventh component of complement associated with recurrent meningococcal infections.

Fijen CA et al. (1989) Complement deficiencies in patients over ten years old with meningococcal disease due to uncommon serogroups.

Haan J et al. (1990) Dementia in hereditary cerebral hemorrhage with amyloidosis-Dutch type.

Prelli F et al. (1990) Expression of a normal and variant Alzheimer's beta-protein gene in amyloid of hereditary cerebral hemorrhage, Dutch type: DNA and protein diagnostic assays.

Ghiso JA et al. (2001) Systemic amyloid deposits in familial British dementia.

Audo I et al. (2014) The familial dementia gene revisited: a missense mutation revealed by whole-exome sequencing identifies ITM2B as a candidate gene underlying a novel autosomal dominant retinal dystrophy in a large family.

Fluhrer R et al. (2012) The α-helical content of the transmembrane domain of the British dementia protein-2 (Bri2) determines its processing by signal peptide peptidase-like 2b (SPPL2b).

Coomaraswamy J et al. (2010) Modeling familial Danish dementia in mice supports the concept of the amyloid hypothesis of Alzheimer's disease.

Verbeek MM et al. (2009) Cerebrospinal fluid amyloid beta(40) is decreased in cerebral amyloid angiopathy.

Herzig MC et al. (2006) Mechanism of cerebral beta-amyloid angiopathy: murine and cellular models.

van den Boom R et al. (2005) Microbleeds in hereditary cerebral hemorrhage with amyloidosis-Dutch type.

Herzig MC et al. (2004) Abeta is targeted to the vasculature in a mouse model of hereditary cerebral hemorrhage with amyloidosis.

Attems J et al. (2004) Amyloid beta peptide 1-42 highly correlates with capillary cerebral amyloid angiopathy and Alzheimer disease pathology.

Revesz T et al. (2003) Cerebral amyloid angiopathies: a pathologic, biochemical, and genetic view.

Rostagno A et al. (2002) Complement activation in chromosome 13 dementias. Similarities with Alzheimer's disease.

Natté R et al. (2001) Dementia in hereditary cerebral hemorrhage with amyloidosis-Dutch type is associated with cerebral amyloid angiopathy but is independent of plaques and neurofibrillary tangles.

Grabowski TJ et al. (2001) Novel amyloid precursor protein mutation in an Iowa family with dementia and severe cerebral amyloid angiopathy.

Iglesias S et al. (2000) Familial occipital calcifications, hemorrhagic strokes, leukoencephalopathy, dementia, and external carotid dysplasia.

Vidal R et al. (2000) A decamer duplication in the 3' region of the BRI gene originates an amyloid peptide that is associated with dementia in a Danish kindred.

O'Donnell HC et al. (2000) Apolipoprotein E genotype and the risk of recurrent lobar intracerebral hemorrhage.

Vidal R et al. (1999) A stop-codon mutation in the BRI gene associated with familial British dementia.

Fukumori Y et al. (1998) Terminal complement component deficiencies in Japan.

Greenberg SM et al. (1998) Association of apolipoprotein E epsilon2 and vasculopathy in cerebral amyloid angiopathy.

Nicoll JA et al. (1997) High frequency of apolipoprotein E epsilon 2 allele in hemorrhage due to cerebral amyloid angiopathy.

Yamada M et al. (1996) Lack of an association between apolipoprotein E epsilon 4 and cerebral amyloid angiopathy in elderly Japanese.

Nicoll JA et al. (1996) High frequency of apolipoprotein E epsilon 2 in patients with cerebral hemorrhage due to cerebral amyloid angiopathy.

Kölble K et al. (1993) Carrier detection in families with properdin deficiency by microsatellite haplotyping.

Greenberg SM et al. (1995) Apolipoprotein E epsilon 4 and cerebral hemorrhage associated with amyloid angiopathy.

Fernie BA et al. (1996) Molecular bases of combined subtotal deficiencies of C6 and C7: their effects in combination with other C6 and C7 deficiencies.

Tersmette-Steenstra HM et al. (1986) [A family with meningococcal infections].

Sjöholm AG et al. (1988) Dysfunctional properdin in a Dutch family with meningococcal disease.

Sjöholm AG et al. (1988) A second variant of properdin deficiency: the detection of properdin at low concentrations in affected males.

Schlesinger M et al. (1990) Prevalence of hereditary properdin, C7 and C8 deficiencies in patients with meningococcal infections.

Coleman MP et al. (1991) Genetic and physical mapping around the properdin P gene.

Derry JM et al. (1992) Physical linkage of the A-raf-1, properdin, synapsin I, and TIMP genes on the human and mouse X chromosomes.

Wadelius C et al. (1992) Linkage analysis in properdin deficiency families: refined location in proximal Xp.

Nolan KF et al. (1992) Characterization of the human properdin gene.

Fernie BA et al. (1998) Complement C7 deficiency: seven further molecular defects and their associated marker haplotypes.

Fernie BA et al. (1997) Molecular bases of C7 deficiency: three different defects.

Nishizaka H et al. (1996) Genetic bases of human complement C7 deficiency.

Van Broeckhoven C et al. (1990) Amyloid beta protein precursor gene and hereditary cerebral hemorrhage with amyloidosis (Dutch).

Lachmann PJ et al. (1978) Combined genetic deficiency of C6 and C7 in man.

Ross SC et al. (1984) Complement deficiency states and infection: epidemiology, pathogenesis and consequences of neisserial and other infections in an immune deficiency.

Coto E et al. (1991) DNA polymorphisms and linkage relationship of the human complement component C6, C7, and C9 genes.

Wang X et al. (1995) Inherited human complement C5 deficiency. Nonsense mutations in exons 1 (Gln1 to Stop) and 36 (Arg1458 to Stop) and compound heterozygosity in three African-American families.

Wetsel RA et al. (1990) Deficiency of the murine fifth complement component (C5). A 2-base pair gene deletion in a 5'-exon.

Bugiani O et al. (2010) Hereditary cerebral hemorrhage with amyloidosis associated with the E693K mutation of APP.

Revesz T et al. (2009) Genetics and molecular pathogenesis of sporadic and hereditary cerebral amyloid angiopathies.

Rovelet-Lecrux A et al. (2006) APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy.

Obici L et al. (2005) A novel AbetaPP mutation exclusively associated with cerebral amyloid angiopathy.

Greenberg SM et al. (2003) Hemorrhagic stroke associated with the Iowa amyloid precursor protein mutation.

Levy E et al. (1990) Mutation of the Alzheimer's disease amyloid gene in hereditary cerebral hemorrhage, Dutch type.

Ash S et al. (1994) Further mapping of the properdin deficiency gene in a Tunisian Jewish family--evidence for genetic homogeneity.

Asghar SS et al. (1991) Hereditary deficiency of C5 in association with discoid lupus erythematosus.

Fernandez-Madrid I et al. (1991) Codon 618 variant of Alzheimer amyloid gene associated with inherited cerebral hemorrhage.

Shield JP et al. (1992) Lethal congenital erythroderma: a newly recognised genetic disorder.

Friduss SR et al. (1992) Fatal pyoderma gangrenosum in association with C7 deficiency.

Sanal O et al. (1992) Complement component deficiencies and infection: C5, C8 and C3 deficiencies in three families.

None (1975) Congophilic angiopathy complicated by surgery and massive hemorrhage. A light and electron microscopic study.

Boyer JT et al. (1975) Hereditary deficiency of the seventh component of complement.

Rosenfeld SI et al. (1976) Hereditary deficiency of the fifth component of complement in man. II. Biological properties of C5-deficient human serum.

Snyderman R et al. (1979) Deficiency of the fifth component of complement in human subjects. Clinical, genetic and immunologic studies in a large kindred.

Delâge JM et al. (1977) Hereditary C7 deficiency. Diagnosis and HLA studies in a French-Canadian family.

Rittner C et al. (1976) Lack of linkage between gene(s) controlling the synthesis of the seventh component of complement and the HLA region on chromosome No. 6 in man.

Petersen BH et al. (1979) Neisseria meningitidis and Neisseria gonorrhoeae bacteremia associated with C6, C7, or C8 deficiency.

Lee TJ et al. (1978) Familial deficiency of the seventh component of complement associated with recurrent bacteremic infections due to Neisseria.

None (1998) Cerebral amyloid angiopathy: prospects for clinical diagnosis and treatment.

Graffagnino C et al. (1994) A molecular genetic study of intracerebral hemorrhage.

Roosen N et al. (1985) Intracerebral hemorrhage due to cerebral amyloid angiopathy. Case report.

Smith DB et al. (1985) Cerebral amyloid angiopathy presenting as transient ischemic attacks. Case report.

van Duinen SG et al. (1987) Hereditary cerebral hemorrhage with amyloidosis in patients of Dutch origin is related to Alzheimer disease.

van den Bogaard R et al. (2000) Molecular characterisation of 10 Dutch properdin type I deficient families: mutation analysis and X-inactivation studies.

Fredrikson GN et al. (1996) Molecular characterization of properdin deficiency type III: dysfunction produced by a single point mutation in exon 9 of the structural gene causing a tyrosine to aspartic acid interchange.

Westberg J et al. (1995) Sequence-based analysis of properdin deficiency: identification of point mutations in two phenotypic forms of an X-linked immunodeficiency.

Schlesinger M et al. (1993) Hereditary properdin deficiency in three families of Tunisian Jews.

Sjöholm AG et al. (1982) Properdin deficiency in a family with fulminant meningococcal infections.

NCBI article

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