Similar splicing mutations of the Menkes/mottled copper-transporting ATPase gene in occipital horn syndrome and the blotchy mouse.

PubWeight™: 1.44‹?› | Rank: Top 5%

🔗 View Article (PMC 1801180)

Published in Am J Hum Genet on March 01, 1995

Authors

S Das1, B Levinson, C Vulpe, S Whitney, J Gitschier, S Packman

Author Affiliations

1: Department of Pediatrics, University of California, San Francisco 94143-0724.

Articles citing this

The pathobiology of splicing. J Pathol (2010) 2.52

ATP7A-related copper transport diseases-emerging concepts and future trends. Nat Rev Neurol (2011) 2.01

Fibulin-4: a novel gene for an autosomal recessive cutis laxa syndrome. Am J Hum Genet (2006) 1.99

Identification and analysis of mutations in the Wilson disease gene (ATP7B): population frequencies, genotype-phenotype correlation, and functional analyses. Am J Hum Genet (1997) 1.79

Molecular pathogenesis of Wilson and Menkes disease: correlation of mutations with molecular defects and disease phenotypes. J Med Genet (2007) 1.66

Menkes disease. Eur J Hum Genet (2009) 1.65

Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival. Hum Mol Genet (2009) 1.40

Similar splice-site mutations of the ATP7A gene lead to different phenotypes: classical Menkes disease or occipital horn syndrome. Am J Hum Genet (2000) 1.40

Identification of point mutations in 41 unrelated patients affected with Menkes disease. Am J Hum Genet (1997) 1.26

Menkes disease: recent advances and new aspects. J Med Genet (1997) 1.04

A comparison of the mutation spectra of Menkes disease and Wilson disease. Hum Genet (2003) 1.02

A C2055T transition in exon 8 of the ATP7A gene is associated with exon skipping in an occipital horn syndrome family. Am J Hum Genet (1997) 0.99

A novel frameshift mutation in exon 23 of ATP7A (MNK) results in occipital horn syndrome and not in Menkes disease. Am J Hum Genet (2001) 0.97

Wilson disease in Iceland: a clinical and genetic study. Am J Hum Genet (1995) 0.96

Cutis laxa: intersection of elastic fiber biogenesis, TGFβ signaling, the secretory pathway and metabolism. Matrix Biol (2013) 0.94

Experimental cerebral aneurysms in the female heterozygous Blotchy mouse. Int J Exp Pathol (1999) 0.94

Splice site mutations in the ATP7A gene. PLoS One (2011) 0.93

Inherited copper transport disorders: biochemical mechanisms, diagnosis, and treatment. Curr Drug Metab (2012) 0.90

Lower urinary tract development and disease. Wiley Interdiscip Rev Syst Biol Med (2013) 0.87

A serine-to-proline mutation in the copper-transporting P-type ATPase gene of the macular mouse. Mamm Genome (1997) 0.85

Abnormalities of copper accumulation in cell lines established from nine different alleles of mottled are the same as those found in Menkes disease. J Med Genet (1997) 0.81

Menkes disease: underlying genetic defect and new diagnostic possibilities. J Inherit Metab Dis (1998) 0.79

Molecular basis of neurodegeneration and neurodevelopmental defects in Menkes disease. Neurobiol Dis (2015) 0.79

Genes of the copper pathway. Am J Hum Genet (1995) 0.78

Mining copper transport genes. Proc Natl Acad Sci U S A (2001) 0.75

Occipital horn syndrome and classical Menkes Syndrome caused by deep intronic mutations, leading to the activation of ATP7A pseudo-exon. Eur J Hum Genet (2013) 0.75

Mottled Mice and Non-Mammalian Models of Menkes Disease. Front Mol Neurosci (2015) 0.75

Bone marrow from blotchy mice is dispensable to regulate blood copper and aortic pathologies but required for inflammatory mediator production in LDLR-deficient mice during chronic angiotensin II infusion. Ann Vasc Surg (2014) 0.75

13 novel putative mutations in ATP7A found in a cohort of 25 Italian families. Metab Brain Dis (2017) 0.75

A novel nonsense ATP7A pathogenic variant in a family exhibiting a variable occipital horn syndrome phenotype. Mol Genet Metab Rep (2017) 0.75

Articles cited by this

Base composition-independent hybridization in tetramethylammonium chloride: a method for oligonucleotide screening of highly complex gene libraries. Proc Natl Acad Sci U S A (1985) 13.19

PCR amplification of up to 35-kb DNA with high fidelity and high yield from lambda bacteriophage templates. Proc Natl Acad Sci U S A (1994) 9.84

A novel, rapid method for the isolation of terminal sequences from yeast artificial chromosome (YAC) clones. Nucleic Acids Res (1990) 8.52

Splice junctions, branch point sites, and exons: sequence statistics, identification, and applications to genome project. Methods Enzymol (1990) 5.35

Isolation of a candidate gene for Menkes disease that encodes a potential heavy metal binding protein. Nat Genet (1993) 3.63

Isolation of a partial candidate gene for Menkes disease by positional cloning. Nat Genet (1993) 3.58

A PCR artifact: generation of heteroduplexes. Am J Hum Genet (1989) 3.30

Occipital horn syndrome and a mild Menkes phenotype associated with splice site mutations at the MNK locus. Nat Genet (1994) 2.25

Characterization of the Wilson disease gene encoding a P-type copper transporting ATPase: genomic organization, alternative splicing, and structure/function predictions. Hum Mol Genet (1994) 1.88

Mutations in the murine homologue of the Menkes gene in dappled and blotchy mice. Nat Genet (1994) 1.71

X-linked cutis laxa: defective cross-link formation in collagen due to decreased lysyl oxidase activity. N Engl J Med (1980) 1.62

The mottled gene is the mouse homologue of the Menkes disease gene. Nat Genet (1994) 1.61

Diverse mutations in patients with Menkes disease often lead to exon skipping. Am J Hum Genet (1994) 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 therapy of brindled (Mobr) mice. Biochem J (1979) 1.36

Copper metabolism in mottled mouse mutants. The effect of copper therapy on lysyl oxidase activity in brindled (Mobr) mice. Biochem J (1982) 0.98

Are X-linked cutis laxa and Menkes disease allelic? Nat Genet (1993) 0.97

Molecular cloning of human lysyl oxidase and assignment of the gene to chromosome 5q23.3-31.2. Genomics (1991) 0.96

Abnormal copper metabolism and deficient lysyl oxidase activity in a heritable connective tissue disorder. J Clin Invest (1982) 0.91

Metallothionein messenger RNA regulation in the mottled mouse and Menkes kinky hair syndrome. J Clin Invest (1987) 0.90

Catecholamine biosynthesis and the activity of a number of copper-dependent enzymes in the copper deficient mottled mouse mutants. Comp Biochem Physiol C (1977) 0.89

Skeletal dysplasia, occipital horns, diarrhea and obstructive uropathy- a new hereditary syndrome. Birth Defects Orig Artic Ser (1975) 0.89

Expression and accumulation of lysyl oxidase, elastin, and type I procollagen in human Menkes and mottled mouse fibroblasts. Arch Biochem Biophys (1993) 0.89

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

Changes of copper level and cytochrome c oxidase activity in the macular mouse with age. Brain Dev (1991) 0.85

Copper utilization in cultured skin fibroblasts of the mottled mouse, an animal model for Menkes' kinky hair syndrome. J Inherit Metab Dis (1984) 0.82

Articles by these authors

An improved method for prenatal diagnosis of genetic diseases by analysis of amplified DNA sequences. Application to hemophilia A. N Engl J Med (1987) 14.37

Base composition-independent hybridization in tetramethylammonium chloride: a method for oligonucleotide screening of highly complex gene libraries. Proc Natl Acad Sci U S A (1985) 13.19

Activation of SV40 genome by 72-base pair tandem repeats of Moloney sarcoma virus. Nature (1982) 6.02

Characterization of the human factor VIII gene. Nature (1984) 5.37

A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome. Nat Genet (2001) 5.34

Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper-transporting ATPase. Nat Genet (1993) 4.93

Expression of active human factor VIII from recombinant DNA clones. Nature (1984) 4.36

Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A. Nat Genet (1993) 4.12

VCaP, a cell-based model system of human prostate cancer. In Vivo (2001) 3.36

Hephaestin, a ceruloplasmin homologue implicated in intestinal iron transport, is defective in the sla mouse. Nat Genet (1999) 3.30

Absolute pitch: an approach for identification of genetic and nongenetic components. Am J Hum Genet (1998) 3.29

CPx-type ATPases: a class of P-type ATPases that pump heavy metals. Trends Biochem Sci (1996) 3.15

Genetic mapping and diagnosis of haemophilia A achieved through a BclI polymorphism in the factor VIII gene. Nature (1985) 2.61

Neurodegeneration associated with genetic defects in phospholipase A(2). Neurology (2008) 2.57

Detection and sequence of mutations in the factor VIII gene of haemophiliacs. Nature (1985) 2.30

Globin gene expression in cultured erythroleukemic cells. J Mol Biol (1974) 2.28

Outcome of unrelated donor bone marrow transplantation in 40 children with Hurler syndrome. Blood (1996) 2.19

hCTR1: a human gene for copper uptake identified by complementation in yeast. Proc Natl Acad Sci U S A (1997) 2.04

Organization of immunoglobulin genes: reiteration frequency of the mouse kappa chain constant region gene. Proc Natl Acad Sci U S A (1974) 2.00

Mapping of human chromosome Xq28 by two-color fluorescence in situ hybridization of DNA sequences to interphase cell nuclei. Am J Hum Genet (1991) 1.93

The copper transporter CTR1 provides an essential function in mammalian embryonic development. Proc Natl Acad Sci U S A (2001) 1.90

A novel gene involved in zinc transport is deficient in the lethal milk mouse. Nat Genet (1997) 1.88

A comparison of globin genes in duck reticulocytes and liver cells. Biochem Biophys Res Commun (1972) 1.81

Subanesthetic concentrations of desflurane and propofol suppress recall of emotionally charged information. Anesth Analg (1995) 1.75

Deletions of different segments of the long arm of chromosome 4. Am J Med Genet (1981) 1.72

Phenotypic heterogeneity of N370S homozygotes with type I Gaucher disease: an analysis of 798 patients from the ICGG Gaucher Registry. J Inherit Metab Dis (2008) 1.63

The pallid gene encodes a novel, syntaxin 13-interacting protein involved in platelet storage pool deficiency. Nat Genet (1999) 1.62

The mottled gene is the mouse homologue of the Menkes disease gene. Nat Genet (1994) 1.61

Diverse mutations in patients with Menkes disease often lead to exon skipping. Am J Hum Genet (1994) 1.60

Identification of a missense mutation in the factor VIII gene of a mild hemophiliac. Science (1986) 1.60

Brain MRI in neurodegeneration with brain iron accumulation with and without PANK2 mutations. AJNR Am J Neuroradiol (2006) 1.59

Factor VIII gene inversions in severe hemophilia A: results of an international consortium study. Blood (1995) 1.59

Cellular copper transport. Annu Rev Nutr (1995) 1.56

Mutations in the V2 vasopressin receptor gene are associated with X-linked nephrogenic diabetes insipidus. Nat Genet (1992) 1.54

Constitutive lambda DNA replication by lambda-C17, a regulatory mutant related to virulence. Virology (1968) 1.53

A novel missense mutation in the factor VIII gene identified by analysis of amplified hemophilia DNA sequences. Nucleic Acids Res (1987) 1.50

Developmental expression of the mouse mottled and toxic milk genes suggests distinct functions for the Menkes and Wilson disease copper transporters. Hum Mol Genet (1997) 1.40

The molecular basis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in compound heterozygous patients: is there correlation between genotype and phenotype? Hum Mol Genet (1997) 1.36

Homocystinuria. Evidence for three distinct classes of cystathionine beta-synthase mutants in cultured fibroblasts. J Clin Invest (1978) 1.35

Purification and properties of cystathionine beta-synthase from human liver. Evidence for identical subunits. J Biol Chem (1978) 1.30

Quantitation of constant and variable region genes for mouse immunoglobulin lambda chains. Biochemistry (1976) 1.28

Haemophilia A: database of nucleotide substitutions, deletions, insertions and rearrangements of the factor VIII gene. Nucleic Acids Res (1991) 1.26

Antenatal diagnosis and carrier detection of haemophilia A using factor VIII gene probe. Lancet (1985) 1.23

Successful early copper therapy in Menkes disease associated with a mutant transcript containing a small In-frame deletion. Biochem Mol Med (1996) 1.20

Familial aggregation of absolute pitch. Am J Hum Genet (2000) 1.20

Factor VIII gene inversions causing severe hemophilia A originate almost exclusively in male germ cells. Hum Mol Genet (1994) 1.19

Mitochondrial respiratory chain complex I deficiency with clinical and biochemical features of long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency. J Pediatr (2000) 1.18

Haemophilia A: database of nucleotide substitutions, deletions, insertions and rearrangements of the factor VIII gene, second edition. Nucleic Acids Res (1994) 1.18

A transcribed gene in an intron of the human factor VIII gene. Genomics (1990) 1.17

Improvement of bone disease by imiglucerase (Cerezyme) therapy in patients with skeletal manifestations of type 1 Gaucher disease: results of a 48-month longitudinal cohort study. Clin Genet (2008) 1.16

Costs associated with office visits for diarrhea in infants and toddlers. Pediatr Infect Dis J (1993) 1.16

The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency. J Clin Invest (2001) 1.16

Location of the retinoblastoma susceptibility gene(s) and the human esterase D locus. J Med Genet (1984) 1.15

Regulated expression of mammalian genes: globin and immunoglobulin as model systems. Cold Spring Harb Symp Quant Biol (1974) 1.15

Molecular characterization of two galactosemia mutations: correlation of mutations with highly conserved domains in galactose-1-phosphate uridyl transferase. Am J Hum Genet (1991) 1.13

Mislocalisation of hephaestin, a multicopper ferroxidase involved in basolateral intestinal iron transport, in the sex linked anaemia mouse. Gut (2004) 1.13

Haemophilia A: database of nucleotide substitutions, deletions, insertions and rearrangements of the factor VIII gene, second edition. Nucleic Acids Res (1994) 1.13

Molecular analysis of hemophilia A mutations in the Finnish population. Am J Hum Genet (1990) 1.13

A contiguous, 3-Mb physical map of Xq28 extending from the colorblindness locus to DXS15. Am J Hum Genet (1989) 1.12

Imiglucerase (Cerezyme) improves quality of life in patients with skeletal manifestations of Gaucher disease. Clin Genet (2007) 1.11

Evidence for a third transcript from the human factor VIII gene. Genomics (1992) 1.07

The organization and diversity of immunoglobulin genes. Proc Natl Acad Sci U S A (1974) 1.07

Mosaicism and sporadic haemophilia: implications for carrier determination. Lancet (1989) 1.05

Mutations of factor VIII cleavage sites in hemophilia A. Blood (1988) 1.04

Mutations and a polymorphism in the factor VIII gene discovered by denaturing gradient gel electrophoresis. Proc Natl Acad Sci U S A (1990) 1.04

Homozygous and heterozygous deletions of the von Willebrand factor gene in patients and carriers of severe von Willebrand disease. Proc Natl Acad Sci U S A (1988) 1.04

Multiple biotin-dependent carboxylase deficiencies associated with defects in T-cell and B-cell immunity. Lancet (1979) 1.03

Deprivation of pantothenic acid elicits a movement disorder and azoospermia in a mouse model of pantothenate kinase-associated neurodegeneration. J Inherit Metab Dis (2007) 1.03

In vitro synthesis of DNA complementary to mRNA derived from a light chain-producing myeloma tumour. Nat New Biol (1973) 1.03

Sialic acid metabolism in sialuria fibroblasts. J Biol Chem (1991) 1.02

The gene encoding the palmitoylated erythrocyte membrane protein, p55, originates at the CpG island 3' to the factor VIII gene. Hum Mol Genet (1992) 1.01

Hyperammonemia in urea cycle disorders: role of the nephrologist. Am J Kidney Dis (2001) 1.01

Sequence of the murine factor VIII cDNA. Genomics (1993) 1.01

Periventricular heterotopia associated with chromosome 5p anomalies. Neurology (2003) 1.00

Deficiency of the pyruvate dehydrogenase component in pyruvate dehydrogenase complex-deficient human fibroblasts. Immunological identification. J Clin Invest (1986) 0.99

Light-dependent phagotrophy in the freshwater mixotrophic chrysophyte Dinobryon cylindricum. Microb Ecol (1993) 0.97

A repeated element in the regulatory region of the MNK gene and its deletion in a patient with occipital horn syndrome. Hum Mol Genet (1996) 0.97

Nonketotic hyperglycinemia: analyses of glycine cleavage system in typical and atypical cases. J Pediatr (1987) 0.97

Are X-linked cutis laxa and Menkes disease allelic? Nat Genet (1993) 0.97

Homozygosity mapping places the acrodermatitis enteropathica gene on chromosomal region 8q24.3. Am J Hum Genet (2001) 0.97

Mutation analysis and expression of the mottled gene in the macular mouse model of Menkes disease. Pediatr Res (1997) 0.95