Published in Biochem J on February 15, 1982
ATP7A-related copper transport diseases-emerging concepts and future trends. Nat Rev Neurol (2011) 2.01
Similar splicing mutations of the Menkes/mottled copper-transporting ATPase gene in occipital horn syndrome and the blotchy mouse. Am J Hum Genet (1995) 1.44
Type IX Ehlers-Danlos syndrome and Menkes syndrome: the decrease in lysyl oxidase activity is associated with a corresponding deficiency in the enzyme protein. Am J Hum Genet (1985) 0.86
Investigation of iron metabolism in mice expressing a mutant Menke's copper transporting ATPase (Atp7a) protein with diminished activity (Brindled; Mo (Br) (/y) ). PLoS One (2013) 0.86
Comparisons of copper deficiency states in the murine mutants blotchy and brindled. Changes in copper-dependent enzyme activity in 13-day-old mice. Biochem J (1986) 0.84
Of mice and men, metals and mutations. J Med Genet (1986) 0.84
The relationship of excess copper accumulation by fibroblasts from the brindled mouse model of Menkes disease to the primary defect. Biochem J (1990) 0.79
Mutations in humans and animals which affect copper metabolism. J Inherit Metab Dis (1983) 0.77
Fibroblast silver loading for the diagnosis of Menkes disease. J Med Genet (1998) 0.76
Mottled Mice and Non-Mammalian Models of Menkes Disease. Front Mol Neurosci (2015) 0.75
Primary defect in copper transport underlies mottled mutants in the mouse. Nature (1974) 2.37
Lysyl oxidase. Int Rev Connect Tissue Res (1979) 1.70
Menkes disease: a biochemical abnormality in cultured human fibroblasts. Proc Natl Acad Sci U S A (1976) 1.60
Reduced lysyl oxidase activity in skin fibroblasts from patients with Menkes' syndrome. Biochem J (1980) 1.49
Copper metabolism in mottled mouse mutants: copper concentrations in tissues during development. Biochem J (1979) 1.42
Copper metabolism in mottled mouse mutants: copper therapy of brindled (Mobr) mice. Biochem J (1979) 1.36
Decreased lysyl oxidase activity in the aneurysm-prone, mottled mouse. J Biol Chem (1977) 1.33
Altered copper metabolism in cultured cells from human Menkes' syndrome and mottled mouse mutants. Biochem Genet (1980) 1.33
Impaired copper homeostasis in neonatal male and adult female Brindled (Mobr) mice. J Nutr (1978) 1.21
A sex-linked defect in the cross-linking of collagen and elastin associated with the mottled locus in mice. J Exp Med (1974) 1.16
Copper metabolism in mottled mouse mutants: distribution of 64Cu in brindled (Mobr) mice. Biochem J (1979) 1.15
Copper metabolism in mottled mouse mutants. Defective placental transfer of 64Cu to foetal brindled (Mobr) mice. Biochem J (1980) 0.99
Induction of lysyl oxidase with copper. Properties of an in vitro system. J Biol Chem (1979) 0.95
Menkes's syndrome. Report of a patient treated from 21 days of age with parenteral copper. Arch Dis Child (1978) 0.93
Menkes kinky hair syndrome: Is it a treatable disorder? Clin Genet (1977) 0.92
Copper metabolism of cultured fibroblasts from the brindled mouse (gene symbol Mobr). Proc Soc Exp Biol Med (1981) 0.86
Genetic heterogeneity in osteogenesis imperfecta. J Med Genet (1979) 12.51
Leigh syndrome: clinical features and biochemical and DNA abnormalities. Ann Neurol (1996) 3.89
Purification and properties of colony-stimulating factor from mouse lung-conditioned medium. J Biol Chem (1977) 3.74
Evaluation of ultrasonographic diagnostic criteria for autosomal dominant polycystic kidney disease 1. Lancet (1994) 3.73
Ligand-regulated transport of the Menkes copper P-type ATPase efflux pump from the Golgi apparatus to the plasma membrane: a novel mechanism of regulated trafficking. EMBO J (1996) 3.04
Menkes's kinky hair syndrome. An inherited defect in copper absorption with widespread effects. Pediatrics (1972) 3.01
The incidence and presentation of cystic fibrosis in Victoria 1955-1978. Aust Paediatr J (1980) 2.78
Neuroblastoma in Europe: differences in the pattern of disease in the UK. SENSE. Study group for the Evaluation of Neuroblastoma Screening in Europe. Lancet (1998) 2.77
Altered synaptic physiology and reduced susceptibility to kainate-induced seizures in GluR6-deficient mice. Nature (1998) 2.72
The inter-regional epidemiological study of childhood cancer (IRESCC): a case control study of aetiological factors in leukaemia and lymphoma. Arch Dis Child (1987) 2.49
Maternal-specific footprints at putative CTCF sites in the H19 imprinting control region give evidence for insulator function. Curr Biol (2000) 2.46
Retracted Mutations at more than one locus may be involved in cystic fibrosis--evidence based on first-cousin data and direct counting of cases. Am J Hum Genet (1983) 2.45
Inner ear defects induced by null mutation of the isk gene. Neuron (1996) 2.34
Studies of the aetiology of neonatal hepatitis and biliary atresia. Arch Dis Child (1977) 2.04
Allele-specific expression and total expression levels of imprinted genes during early mouse development: implications for imprinting mechanisms. Genes Dev (1995) 2.03
Menkes' kinky-hair syndrome. Lancet (1972) 1.99
Adjuvant low dose radiation in childhood T cell leukaemia/lymphoma (report from the United Kingdom Childrens' Cancer Study Group--UKCCSG). Br J Cancer (1984) 1.97
Menkes' kinky hair disease: further definition of the defect in copper transport. Science (1973) 1.95
Inhibition of 3-deoxy-d-arabinoheptulosonic acid-7-phosphate synthetase (trp) in Escherichia coli. J Bacteriol (1969) 1.93
Is the risk of cancer increased in Asians living in the UK? Arch Dis Child (1994) 1.79
Molecular genetics and transport analysis of the copper-resistance determinant (pco) from Escherichia coli plasmid pRJ1004. Mol Microbiol (1995) 1.78
Binomial cokriging for estimating and mapping the risk of childhood cancer. IMA J Math Appl Med Biol (1998) 1.77
A promoter that drives transgene expression in cerebellar Purkinje and retinal bipolar neurons. Science (1990) 1.76
Inducible plasmid-mediated copper resistance in Escherichia coli. J Gen Microbiol (1985) 1.74
Carcinoid tumours of the appendix in children 1957-1986: incidence, treatment and outcome. Br J Surg (1993) 1.71
Biallelic expression of imprinted genes in the mouse germ line: implications for erasure, establishment, and mechanisms of genomic imprinting. Genes Dev (1995) 1.70
Prevalence of K329E mutation in medium-chain acyl-CoA dehydrogenase gene determined from Guthrie cards. Lancet (1991) 1.66
Cerebro-hepato-renal syndrome of Zellweger. A report of eight cases with comments upon the incidence, the liver lesion, and a fault in pipecolic acid metabolism. J Pediatr (1975) 1.66
Expression and methylation of imprinted genes during in vitro differentiation of mouse parthenogenetic and androgenetic embryonic stem cell lines. Development (1994) 1.63
Facts for teachers of children with cancer. Arch Dis Child (1988) 1.61
Genetics of the mammalian phenylalanine hydroxylase system. Studies of human liver phenylalanine hydroxylase subunit structure and of mutations in phenylketonuria. Biochem J (1979) 1.61
Cytomegalovirus in human milk. N Engl J Med (1972) 1.60
Evaluation of eight and a half years of neonatal screening for haemoglobinopathies in Birmingham. Br Med J (Clin Res Ed) (1988) 1.59
Mutations of the flavin-containing monooxygenase gene (FMO3) cause trimethylaminuria, a defect in detoxication. Hum Mol Genet (1998) 1.58
Sickle cell haemoglobinopathies in England. Arch Dis Child (1981) 1.52
Heat illness in infants and young children: a study of 47 cases. 1962. Wilderness Environ Med (2004) 1.49
Reduced lysyl oxidase activity in skin fibroblasts from patients with Menkes' syndrome. Biochem J (1980) 1.49
Molecular genetics of a chromosomal locus involved in copper tolerance in Escherichia coli K-12. Mol Microbiol (1995) 1.49
Neuroblastoma--when are urinary catecholamines and their metabolites 'normal'? Ann Clin Biochem (1988) 1.48
Phenotype and genotype heterogeneity in autosomal dominant polycystic kidney disease. Lancet (1992) 1.47
Familial occurrence of congenital laryngeal clefts. Arch Dis Child (1973) 1.46
Malignant hyperphenylalaninaemia--current status (June 1977). J Inherit Metab Dis (1978) 1.45
Copper metabolism in mottled mouse mutants: copper concentrations in tissues during development. Biochem J (1979) 1.42
Financial burden of childhood cancer. Br Med J (Clin Res Ed) (1982) 1.41
A study of the inheritance of duplication of the kidneys and ureters. J Urol (1966) 1.38
Poor prognosis of acute lymphoblastic leukaemia in Asian children living in the United Kingdom. Br Med J (Clin Res Ed) (1983) 1.38
Asphyxiating thoracic dysplasia. Clinical, radiological, and pathological information on 10 patients. Arch Dis Child (1977) 1.37
Thoracic-pelvic dysostosis: a 'new' autosomal dominant form. J Med Genet (1983) 1.37
Chondrodysplasia punctata-23 cases of a mild and relatively common variety. J Pediatr (1976) 1.37
Neonatal screening for sickle haemoglobinopathies in Birmingham. Br Med J (Clin Res Ed) (1982) 1.37
Copper metabolism in mottled mouse mutants: copper therapy of brindled (Mobr) mice. Biochem J (1979) 1.36
Bisulfite sequencing in preimplantation embryos: DNA methylation profile of the upstream region of the mouse imprinted H19 gene. Genomics (1998) 1.36
Achondroplasia and hypochondroplasia. Comments on frequency, mutation rate, and radiological features in skull and spine. J Med Genet (1979) 1.34
Altered copper metabolism in cultured cells from human Menkes' syndrome and mottled mouse mutants. Biochem Genet (1980) 1.33
Childhood cancer in the West Midlands: incidence and survival, 1980-1984, in a multi-ethnic population. Clin Oncol (R Coll Radiol) (1992) 1.33
Cloning and characterization of cutE, a gene involved in copper transport in Escherichia coli. J Bacteriol (1991) 1.33
Early treatment of Menkes disease with parenteral copper-histidine: long-term follow-up of four treated patients. Am J Med Genet (1998) 1.31
Severe neonatal citrullinaemia. Arch Dis Child (1974) 1.31
Prognosis of babies with neonatal hepatitis. Arch Dis Child (1977) 1.30
Management of newborn babies in whom serious metabolic illness is anticipated. Arch Dis Child (1974) 1.28
Copper levels are increased in the cerebral cortex and liver of APP and APLP2 knockout mice. Brain Res (1999) 1.27
beta-hydroxyisobutyryl coenzyme A deacylase deficiency: a defect in valine metabolism associated with physical malformations. Pediatrics (1982) 1.27
Involvement of IsK-associated K+ channel in heart rate control of repolarization in a murine engineered model of Jervell and Lange-Nielsen syndrome. Circ Res (1998) 1.25
Signals regulating trafficking of Menkes (MNK; ATP7A) copper-translocating P-type ATPase in polarized MDCK cells. Am J Physiol Cell Physiol (2004) 1.25
Quantitative RT-PCR assays show Xist RNA levels are low in mouse female adult tissue, embryos and embryoid bodies. Development (1994) 1.25
Clinical variability in osteogenesis imperfecta-variable expressivity or genetic heterogeneity. Birth Defects Orig Artic Ser (1979) 1.25
Copper inhibits beta-amyloid production and stimulates the non-amyloidogenic pathway of amyloid-precursor-protein secretion. Biochem J (1999) 1.24
Identification of cutC and cutF (nlpE) genes involved in copper tolerance in Escherichia coli. J Bacteriol (1995) 1.23
Metaphyseal chondrodysplasia, neutropenia, and pancreatic insufficiency presenting with respiratory distress in the neonatal period. Arch Dis Child (1976) 1.22
Letter: Tetrahydrobiopterin treatment of variant form of phenylketonuria. Lancet (1975) 1.21
Further delineation of the C (trigonocephaly) syndrome. Am J Med Genet (1981) 1.21
Incidence of neural tube defects in Victoria, Australia. Lancet (1983) 1.20
Functional analysis of the N-terminal CXXC metal-binding motifs in the human Menkes copper-transporting P-type ATPase expressed in cultured mammalian cells. J Biol Chem (1999) 1.20
Repression of 3-deoxy-D-arabinoheptulosonic acid-7-phosphate synthetase (trp) and enzymes of the tryptophan pathway in Escherichia coli K-12. J Bacteriol (1971) 1.19
Ultrasound examinations in pregnancy and childhood cancer. Lancet (1984) 1.17
The mucopolysaccharidoses. Aust Paediatr J (1987) 1.17
Age-related variations in hydroxylation of lysine and proline in collagen. Biochem J (1974) 1.17
Caring for survivors of childhood cancers: the size of the problem. Eur J Cancer (2006) 1.15
Copper metabolism in mottled mouse mutants: distribution of 64Cu in brindled (Mobr) mice. Biochem J (1979) 1.15
Orbital tuberculosis in childhood. Br J Ophthalmol (1982) 1.14
The regulation of catalytic activity of the menkes copper-translocating P-type ATPase. Role of high affinity copper-binding sites. J Biol Chem (2001) 1.14
A geostatistical approach to the analysis of pattern in rare disease. J Public Health Med (1992) 1.13
Sodium bicarbonate prophylaxis of sickle cell crisis. Pediatrics (1974) 1.13
X-rays in pregnancy and the risk of childhood cancer. Lancet (1985) 1.11
ATP-dependent copper transport by the Menkes protein in membrane vesicles isolated from cultured Chinese hamster ovary cells. FEBS Lett (1998) 1.11
Thrombectomy for renal venous thrombosis in infant of diabetic mother. Br Med J (1970) 1.10
Trimethylaminuria, fish odour syndrome: a new method of detection and response to treatment with metronidazole. J Inherit Metab Dis (1995) 1.10
A pedigree study of perinatally lethal renal disease. J Med Genet (1985) 1.10
Correction of the copper transport defect of Menkes patient fibroblasts by expression of the Menkes and Wilson ATPases. J Biol Chem (1998) 1.10
A C-terminal di-leucine is required for localization of the Menkes protein in the trans-Golgi network. Hum Mol Genet (1998) 1.10
The Opitz trigonocephaly syndrome. A case report. Am J Dis Child (1975) 1.09