Published in J Biol Chem on September 10, 1981
Functional modifications of alpha 2-macroglobulin by primary amines. Kinetics of inactivation of alpha 2-macroglobulin by methylamine, and formation of anomalous complexes with trypsin. Biochem J (1982) 1.02
Guinea pig macroalbumin. A major inhibitor of activated Hageman factor in plasma with an alpha 2-macroglobulin-like nature. Am J Pathol (1984) 0.87
Stoichiometry of reactions of alpha 2-macroglobulin with trypsin and chymotrypsin. Biochem J (1984) 0.79
Analysis of Alpha-2 Macroglobulin from the Long-Lived and Cancer-Resistant Naked Mole-Rat and Human Plasma. PLoS One (2015) 0.77
Limulus alpha 2-macroglobulin. First evidence in an invertebrate for a protein containing an internal thiol ester bond. Biochem J (1987) 0.77
Design of a new protease inhibitor by the manipulation of the bait region of alpha 2-macroglobulin: inhibition of the tobacco etch virus protease by mutant alpha 2-macroglobulin. Biochem J (1995) 0.76
Deficiency of presenilin-1 inhibits the normal cleavage of amyloid precursor protein. Nature (1998) 7.43
Recurrent rearrangements in the high mobility group protein gene, HMGI-C, in benign mesenchymal tumours. Nat Genet (1995) 3.27
Early phenotypic changes in transgenic mice that overexpress different mutants of amyloid precursor protein in brain. J Biol Chem (1999) 3.20
Phenotypic characterization of individuals with 30-40 CAG repeats in the Huntington disease (HD) gene reveals HD cases with 36 repeats and apparently normal elderly individuals with 36-39 repeats. Am J Hum Genet (1996) 2.88
Presenilin 2 deficiency causes a mild pulmonary phenotype and no changes in amyloid precursor protein processing but enhances the embryonic lethal phenotype of presenilin 1 deficiency. Proc Natl Acad Sci U S A (1999) 2.82
Fusion of TEL, the ETS-variant gene 6 (ETV6), to the receptor-associated kinase JAK2 as a result of t(9;12) in a lymphoid and t(9;15;12) in a myeloid leukemia. Blood (1997) 2.75
Polyvariant mutant cystic fibrosis transmembrane conductance regulator genes. The polymorphic (Tg)m locus explains the partial penetrance of the T5 polymorphism as a disease mutation. J Clin Invest (1998) 2.68
Developmental changes in heparan sulfate expression: in situ detection with mAbs. J Cell Biol (1992) 2.61
Distinct haematological disorder with deletion of long arm of no. 5 chromosome. Nature (1974) 2.56
Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice. J Cyst Fibros (2008) 2.56
Small cysteine-rich antifungal proteins from radish: their role in host defense. Plant Cell (1995) 2.54
Analysis of two novel classes of plant antifungal proteins from radish (Raphanus sativus L.) seeds. J Biol Chem (1992) 2.50
The Greig polysyndactyly craniofacial dysmorphism syndrome: variable expression in a family. Eur J Pediatr (1981) 2.50
Primary amines inhibit recycling of alpha 2M receptors in fibroblasts. Cell (1980) 2.40
A child, homozygous for a stop codon in exon 11, shows milder cystic fibrosis symptoms than her heterozygous nephew. J Med Genet (1990) 2.30
Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome). Nat Genet (1997) 2.30
Increased monozygotic twinning rate after ovulation induction. Lancet (1987) 2.12
Prominent axonopathy in the brain and spinal cord of transgenic mice overexpressing four-repeat human tau protein. Am J Pathol (1999) 2.12
Predominance of beta-catenin mutations and beta-catenin dysregulation in sporadic aggressive fibromatosis (desmoid tumor). Oncogene (1999) 2.10
Marginal zone B-cell lymphomas of different sites share similar cytogenetic and morphologic features. Blood (1996) 2.02
An alpha-2-macroglobulin insertion-deletion polymorphism in Alzheimer disease. Nat Genet (1999) 2.01
Interstitial deletion of the long arm of chromosome 2 in a polymalformed newborn--karyotype: 46,XX,del(2)(q21;q24). Hum Genet (1977) 1.93
Translocation t(12;16)(q13;p11) in myxoid liposarcoma and round cell liposarcoma: molecular and cytogenetic analysis. Cancer Res (1995) 1.91
Molecular cloning of a phosphatidylinositol-anchored membrane heparan sulfate proteoglycan from human lung fibroblasts. J Cell Biol (1990) 1.88
Prediction of psychological functioning one year after the predictive test for Huntington's disease and impact of the test result on reproductive decision making. J Med Genet (1996) 1.84
Phosphorylation, subcellular localization, and membrane orientation of the Alzheimer's disease-associated presenilins. J Biol Chem (1997) 1.81
A new lethal syndrome with cloudy corneae, diaphragmatic defects and distal limb deformities. Hum Genet (1979) 1.79
Cytogenetic and fluorescence in situ hybridization investigation of ring chromosomes characterizing a specific pathologic subgroup of adipose tissue tumors. Cancer Genet Cytogenet (1993) 1.77
Huntington disease: no evidence for locus heterogeneity. Genomics (1989) 1.70
Complex chromosomal rearrangements (CCR) and their genetic consequences. J Genet Hum (1982) 1.68
Isolation and characterisation of plant defensins from seeds of Asteraceae, Fabaceae, Hippocastanaceae and Saxifragaceae. FEBS Lett (1995) 1.67
A new family of basic cysteine-rich plant antifungal proteins from Brassicaceae species. FEBS Lett (1993) 1.66
Lack of homozygotes for the most frequent disease allele in carbohydrate-deficient glycoprotein syndrome type 1A. Am J Hum Genet (1998) 1.66
Alagille syndrome (arteriohepatic dysplasia) and del(20)(p11.2) Am J Med Genet (1990) 1.61
Trisomies 8 and 20 in desmoid tumors. Cancer Genet Cytogenet (1996) 1.61
The 5q-anomaly. Cancer Genet Cytogenet (1985) 1.60
Factor VIII gene inversions in severe hemophilia A: results of an international consortium study. Blood (1995) 1.59
Correlations between triplet repeat expansion and clinical features in Huntington's disease. Arch Neurol (1995) 1.59
Linkage analysis in three families with nonspecific X-linked mental retardation. Am J Med Genet (1996) 1.59
Glycogen synthase kinase-3beta phosphorylates protein tau and rescues the axonopathy in the central nervous system of human four-repeat tau transgenic mice. J Biol Chem (2000) 1.52
Molecular cloning of amphiglycan, a novel integral membrane heparan sulfate proteoglycan expressed by epithelial and fibroblastic cells. J Cell Biol (1992) 1.51
Predictive testing for Huntington's disease: risk perception, reasons for testing and psychological profile of test applicants. Genet Couns (1995) 1.51
Paracentric Inversion in man: personal experience and review of the literature. Hum Genet (1980) 1.50
Combined morphologic and karyotypic study of 59 atypical lipomatous tumors. Evaluation of their relationship and differential diagnosis with other adipose tissue tumors (a report of the CHAMP Study Group). Am J Surg Pathol (1996) 1.48
Multiple distinct membrane heparan sulfate proteoglycans in human lung fibroblasts. J Biol Chem (1989) 1.48
Adolescents' attitude towards carrier testing for cystic fibrosis and its relative stability over time. Eur J Hum Genet (1996) 1.48
In Vitro Antifungal Activity of a Radish (Raphanus sativus L.) Seed Protein Homologous to Nonspecific Lipid Transfer Proteins. Plant Physiol (1992) 1.48
Dominant branchial cleft syndrome with characteristics of both branchio-oto-renal and branchio-oculo-facial syndrome. Clin Genet (1990) 1.47
Philadelphia chromosome-positive chronic myelogenous leukemia in treated Hodgkin's disease. Cancer Genet Cytogenet (1990) 1.45
Demonstration of an alpha2-macroglobulin receptor in human fibroblasts, absent in tumor-derived cell lines. J Biol Chem (1979) 1.45
Prominent cerebral amyloid angiopathy in transgenic mice overexpressing the london mutant of human APP in neurons. Am J Pathol (2000) 1.42
Monosomy 22 and trisomy 14 may be early events in the tumorigenesis of adult granulosa cell tumor. Cancer Genet Cytogenet (1999) 1.42
Differences in the chromosomal profile of AML-M0 versus AML-M1: response. Blood (1996) 1.42
t(1;19) without detectable E2A rearrangements in two t(14;18)-positive lymphoma/leukemia cases. Genes Chromosomes Cancer (1994) 1.41
Prenatal growth retardation, microphthalmos/iris coloboma, cloudy cornea, urogenital anomalies and microcephaly. A possible new sublethal syndrome. Clin Genet (1997) 1.40
Non-syndromic deafness associated with a mutation and a polymorphism in the mitochondrial 12S ribosomal RNA gene in a large Zairean pedigree. Eur J Hum Genet (1996) 1.40
Correlation of cytogenetic patterns and clinicobiological features in adult acute myeloid leukemia expressing lymphoid markers. Blood (1992) 1.39
The Coffin syndrome. Hum Genet (1977) 1.38
TP53 mutations are frequent in malignant NF1 tumors. Genes Chromosomes Cancer (1994) 1.37
Uptake and degradation of alpha2-macroglobulin-protease complexes in human cells in culture. Exp Cell Res (1978) 1.35
Hypohidrotic ectodermal dysplasia, primary hypothyroidism, and agenesis of the corpus callosum. J Med Genet (1989) 1.34
Attitudes towards predictive testing in Huntington's disease: a recent survey in Belgium. J Med Genet (1987) 1.34
Differential expression of cell surface heparan sulfate proteoglycans in human mammary epithelial cells and lung fibroblasts. J Biol Chem (1992) 1.33
Cell surface heparan sulfate proteoglycans from human vascular endothelial cells. Core protein characterization and antithrombin III binding properties. J Biol Chem (1992) 1.32
The structure and dynamics of ring chromosomes in human neoplastic and non-neoplastic cells. Hum Genet (1999) 1.31
Detection of bacterial and mycoplasma contamination in cell cultures by polymerase chain reaction. FEMS Microbiol Lett (1992) 1.31
Cytogenetic analysis of subcutaneous angiolipoma: further evidence supporting its difference from ordinary pure lipomas: a report of the CHAMP Study Group. Am J Surg Pathol (1997) 1.30
Partial Trisomy 1, Karyotype 46,XY,12-,t(1q,12p)+. Humangenetik (1973) 1.30
A novel gene, AF-1p, fused to HRX in t(1;11)(p32;q23), is not related to AF-4, AF-9 nor ENL. Oncogene (1994) 1.30
Proximal duplication of the long arm of chromosome 10 (10q11.2----10q22): a distinct clinical entity. Clin Genet (1987) 1.30
Mutant presenilins disturb neuronal calcium homeostasis in the brain of transgenic mice, decreasing the threshold for excitotoxicity and facilitating long-term potentiation. J Biol Chem (2001) 1.30
Molecular cloning of NIPP-1, a nuclear inhibitor of protein phosphatase-1, reveals homology with polypeptides involved in RNA processing. J Biol Chem (1995) 1.28
Noninvasive in vivo MRI detection of neuritic plaques associated with iron in APP[V717I] transgenic mice, a model for Alzheimer's disease. Magn Reson Med (2005) 1.27
Deregulation of NMDA-receptor function and down-stream signaling in APP[V717I] transgenic mice. Neurobiol Aging (2007) 1.27
The beta-amyloid domain is essential for axonal sorting of amyloid precursor protein. EMBO J (1996) 1.26
Expression of human apolipoprotein E4 in neurons causes hyperphosphorylation of protein tau in the brains of transgenic mice. Am J Pathol (2000) 1.25
Skewed X-chromosome inactivation in female carriers of dyskeratosis congenita. Am J Hum Genet (1997) 1.25
Inflammatory myofibroblastic tumor of bone: report of two cases with evidence of clonal chromosomal changes. Am J Surg Pathol (1997) 1.24
X-linked recessively inherited non-specific mental retardation. Report of a large family. Ann Genet (1977) 1.23
Philadelphia chromosome-positive acute myeloid leukemia: cytoimmunologic and cytogenetic features. Haematologica (1997) 1.23