- Effect of copper and diethyldithiocarbamate combination therapy on the macular mouse, an animal model of Menkes disease
Department of Pediatrics, Teikyo University School of Medicine, 11 1, Kaga 2, Itabashi ku, Tokyo, 176 8605, Japan
J Inherit Metab Dis 28:971-8. 2005
- Familial hyperzincaemia: a rare entity
M A Selimoglu
Int J Clin Pract 60:108-9. 2006
- Diagnostic value of a microsatellite DNA marker for copper toxicosis in West-European Bedlington terriers and incidence of the disease
Department of Clinical Sciences of Companion Animals, Faculty of Veterinary Medicine, University Utrecht, The Netherlands
Anim Genet 30:190-4. 1999
..33 and 0.67 in Dutch dogs, 0.31 and 0.69 in German dogs, and 0.57 and 0.43 in Belgian dogs. We have confirmed the utility of this marker for diagnosis of inherited copper toxicosis in European Bedlington terriers...
- Concurrent hepatic copper toxicosis and Fanconi's syndrome in a dog
T L Hill
Department of Clinical Sciences, College of Veterinary Medicine, North Carolina State University, Raleigh, NC 27606, USA
J Vet Intern Med 22:219-22. 2008
- Copper in medicine
George J Brewer
Department of Human Genetics, University of Michigan Medical School, 5024 Kresge Building II, Ann Arbor, MI 48109 0534, USA
Curr Opin Chem Biol 7:207-12. 2003
..There have also been recent developments in the genetic and non-genetic abnormalities of copper, including the finding of new copper-related genes that potentially could cause disease if mutated...
- Isolated familial hypomagnesaemia with novel neurological features: causal link or chance concurrence?
A J Larner
St Mary s Hospital, Praed Street, London, UK
Eur J Neurol 8:495-9. 2001
..The pathogenesis of this unusual neurological and ophthalmological syndrome therefore remains uncertain...
- Targeted gene disruption reveals an essential role for ceruloplasmin in cellular iron efflux
Z L Harris
Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St Louis, MO 63110, USA
Proc Natl Acad Sci U S A 96:10812-7. 1999
..Our findings reveal an essential physiologic role for ceruloplasmin in determining the rate of iron efflux from cells with mobilizable iron stores...
- Idiopathic hypercalciuria: O2(-)NO relationship and altered bone metabolism
Dipartimento di Scienze Mediche e Chirurgiche, Università di Padova ed Azienda Ospedaliera di Padova, Italy
J Endocrinol Invest 23:78-83. 2000
..A possible interaction of NO with O2-, which breaks down NO, and the role of this interaction in the pathophysiology of IH is discussed...
- The toxic milk mutation, tx, which results in a condition resembling Wilson disease in humans, is linked to mouse chromosome 8
Biology Department, University of Massachusetts, Amherst 01003, USA
Genomics 29:551-2. 1995
- Inherited Na transport disorders: the taming of the syndromes
V Matti Vehaskari
Department of Pediatrics, Louisiana State University Health Sciences Center, New Orleans, Louisiana 70118, USA
Curr Opin Pediatr 16:182-7. 2004
..This review discusses the recent findings that have expanded our knowledge and may impact clinical decision-making...
- The ferroportin disease
Center for Hemochromatosis, Department of Internal Medicine, University of Modena and Reggio Emilia, Modena 41100, Italy
Blood Cells Mol Dis 32:131-8. 2004
..Now, the disorder appears to be the most common cause of hereditary iron overload beyond HFE hemochromatosis...
- Isolated sulfite oxidase deficiency: identification of 12 novel SUOX mutations in 10 patients
Jean L Johnson
Department of Biochemistry, Duke University Medical Center, Durham, NC 27710, USA
Hum Mutat 20:74. 2002
..This mutation, however, is downstream of a frameshift mutation and is therefore not the causative mutation in this individual...
- Lipid and myelin abnormalities of brain in the crinkled mouse
L L Theriault
Proc Soc Exp Biol Med 155:549-53. 1977
- The gene responsible for familial hypocalciuric hypercalcemia maps to chromosome 3q in four unrelated families
Y H Chou
Howard Hughes Medical Institute, Boston, Massachusetts
Nat Genet 1:295-300. 1992
..67). We suggest that this is the predominant FHH locus and anticipate that identification of the FHH gene will improve our understanding of the molecular basis for physiologic and pathologic regulation of calcium...
- Copper transporting P-type ATPases and human disease
Diane W Cox
Department of Medical Genetics, University of Alberta, Edmonton, Alberta, Canada
J Bioenerg Biomembr 34:333-8. 2002
..Tissue expression studies of the copper ATPases and their copper chaperone ATOX1 indicate that there is not complete overlap in expression. Other chaperones may be important for the transport of copper into ATP7A and ATP7B...
- An update on the molecular genetics of hepatocellular carcinoma
Department of Pathology, Dartmouth Hitchcock Medical Center, Lebanon, New Hampshire, USA
Semin Liver Dis 24:77-88. 2004
..To date, information that has accumulated for the past several decades is still incomplete, and we still are faced with a great challenge in deciphering the molecular mechanisms of HCCs...
- Iron storage disease in parents and sibs of infants with neonatal hemochromatosis: 30-year follow-up
Arvepatologisk Institut, Odense Universitet, Denmark
Am J Med Genet 37:342-5. 1990
..These findings suggest that first-degree relatives of persons with NH are not necessarily at increased risk of iron storage disease in later life...
- Acrodermatitis enteropathica
University of Kansas School of Medicine Wichita
Am Fam Physician 39:151-4. 1989
..If the disorder is not treated, death occurs from infection and/or marasmus. Blood zinc levels confirm the diagnosis. Dramatic recovery and normal development occur when dietary zinc is supplemented...
- Hepatic lysosomal copper-thionein
Division of Gastroenterology, Albert Einstein College of Medicine, Bronx, New York 10461
Experientia Suppl 52:647-53. 1987
- The HAG mechanism: a molecular rationale for the therapeutic application of iron chelators in human diseases involving the 2-oxoacid utilizing dioxygenases
Hartmut M Hanauske-Abel
Section on Matrix Biology, New Jersey Medical School, Newark, USA
Curr Med Chem 10:1005-19. 2003
..The HAG mechanism also lends itself to the development of novel, man-made biocatalysts...
- Microelements and inherited metabolic diseases
Charles University in Prague, Faculty of Medicine in Hradec Kralove, Department of Paediatrics, Czech Republic
Acta Medica (Hradec Kralove) 45:129-33. 2002
- Aceruloplasminemia, an inherited disorder of iron metabolism
First Department of Medicine, Hamamatsu University School of Medicine, Hamamatsu University School of Medicine, 1 20 1 Handayama, Hamamatsu 431 3192, Japan
Biometals 16:205-13. 2003
..These findings suggest that iron-mediated free radicals causes neuronal cell damage through lipid peroxidation and mitochondrial dysfunction in aceruloplasminemia brains...
- Yeast, a model organism for iron and copper metabolism studies
Jeane De Freitas
Department of Nutritional Science, University of California, Berkeley, California, 94720, USA
Biometals 16:185-97. 2003
..In this review, we will present an overview of the current understanding of iron and copper metabolism in yeast, and the utility of yeast as a model organism to investigate iron and copper metabolism in mammals and plants...
- Frequencies of the hereditary hemochromatosis allele in different populations. Comparison of previous phenotypic methods and novel genotypic methods
Department of Medicine B, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark
Int J Hematol 77:48-54. 2003
..The frequencies of the hereditary hemochromatosis allele were compared for different populations assessed by previous phenotypic methods and the present genotypic methods...
- Estimation of the gene frequency of aceruloplasminemia in Japan
First Department of Medicine, Hamamatsu University School of Medicine, Japan
Neurology 53:617-9. 1999
..The gene frequency was 70/100,000. In Japan, the incidence of aceruloplasminemia was estimated to be approximately 1 per 2,000,000 in the case of nonconsanguineous marriages...
- Genetic disorders affecting proteins of iron and copper metabolism: clinical implications
First Department of Medicine, Hamamatsu University School of Medicine
Intern Med 41:762-9. 2002
..Menkes disease and Wilson's disease are inherited disorders of copper metabolism resulting from the absence or dysfunction of homologous copper-transporting ATPases...
- The copper-iron connection: hereditary aceruloplasminemia
Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St Louis, MO 63110, USA
Semin Hematol 39:282-9. 2002
..Characterization of this disorder reveals an essential role for ceruloplasmin in determining the rate of iron efflux from cells with mobilizable iron stores and provides new insights into the mechanisms of human iron metabolism...
- Rare causes of hereditary iron overload
Departments of Physiology and Medicine, McGill University, Montreal, Quebec, Canada
Semin Hematol 39:249-62. 2002
..The defect in PANK2 is predicted to cause the accumulation of cysteine, which binds iron and causes oxidative stress in the iron-rich globus pallidus...
- Introduction: hereditary disorders of iron metabolism
James P Kushner
Division of Hematology, University of Utah School of Medicine, Salt Lake City, UT 84132, USA
Semin Hematol 39:217-8. 2002
- Hypohomocysteinaemia and highly increased proportion of S-sulfonated plasma transthyretin in molybdenum cofactor deficiency
J O Sass
Department of Pediatrics, University of Innsbruck, Austria
J Inherit Metab Dis 26:80-2. 2003
- Lack of mutations in CYP2D6 and CYP27 in patients with apparent deficiency of vitamin D 25-hydroxylase
Chin Jia Lin
Department of Pediatrics, University of California, San Francisco, CA 94143 0978, USA
Mol Genet Metab 80:469-72. 2003
..25-Hydroxylation occurs in both mitochondria and microsomes. The existence genes encoding distinct enzymes would provide genetic redundancy, explaining the rarity of apparent vitamin D 25-hydroxylase deficiency...
- Copper-associated liver diseases
Department of Clinical Sciences of Companion Animals, Utrecht University, P O Box 80 154, Utrecht NL 3508TD, The Netherlands
Vet Clin North Am Small Anim Pract 39:489-511. 2009
..Diagnosis and treatment of copper-associated hepatitis are described, and breed-specific characteristics of the disease are explained. A literature review references publications about the disease in companion animals...
- Evaluation of bone mineral density and bone metabolism in children with multiple bone fractures
Department of Propedeutics of Paediatrics, Medical University of Lodz
Ortop Traumatol Rehabil 10:602-12. 2008
..The aim of the study was to carry out a comprehensive analysis of determinants of multiple bone fractures in children with regard to densitometric indices and markers of bone metabolism...
- Inherited forms of renal hypomagnesemia: an update
Nine V A M Knoers
Department of Human Genetics 849, Radboud University Nijmegen Medical Centre, P O Box 9101, 6500 HB Nijmegen, The Netherlands
Pediatr Nephrol 24:697-705. 2009
..This is yet another example of the importance of studying rare disorders in order to unravel physiological and pathophysiological processes in the human body...
- Prevalence of the exon 2 deletion of the COMMD1 gene in Australian Bedlington terriers
Shin Aeh Lee
School of Veterinary Medicine, Kangwon National University, Chuncheon 200 701, South Korea
J Genet 86:289-91. 2007
- Aceruloplasminemia: a novel mutation in a family with marked phenotypic variability
Istituto di Neurologia, Universita Cattolica del Sacro Cuore, Roma, Italy
Mov Disord 23:751-5. 2008
..Possible physiopathological bases of these intrafamilial phenotypic variations are discussed...
- Magnetic resonance imaging to identify classic and nonclassic forms of ferroportin disease
Center for Hemochromatosis, Department of Internal Medicine, University Hospital of Modena and Reggio Emilia, Policlinico, Via del Pozzo 71 41100 Modena, Italy
Blood Cells Mol Dis 37:192-6. 2006
..In conclusion, MRI is a useful non-invasive diagnostic tool to categorize and diagnose the disorder, monitor the status of iron depletion and gain insights on its natural history and management...
- Effects of cyclosporine A in hyperzincaemia and hypercalprotectinaemia
Department of Pediatrics, Neonatology and Congenital Disorders, Nagoya City University, Graduate School of Medical Sciences, Nagoya, Japan
Acta Paediatr 95:857-60. 2006
..CONCLUSION: Cyclosporine A is effective for hyperzincaemia and hypercalprotectinaemia. Serum interleukin -8 may be useful in assessing the therapeutic effects of cyclosporine A in hyperzincaemia and hypercalprotectinaemia...
- Hyperphosphatasia with neurologic deficit: a pyridoxine-responsive seizure disorder?
Miles D Thompson
Department of Laboratory Medicine and Pathobiology, University of Toronto, Ontario, Canada
Pediatr Neurol 34:303-7. 2006
..Conversely, pyridoxine challenge should be considered in cases of hyperphosphatasia with seizures and neurologic deficit...
- Cyclosporin and Timothy syndrome increase mode 2 gating of CaV1.2 calcium channels through aberrant phosphorylation of S6 helices
Laboratory of Neurobiology, National Institute of Environmental Health Sciences, National Institutes of Health, Research Triangle Park, NC 27709, USA
Proc Natl Acad Sci U S A 103:3932-7. 2006
..We propose that aberrant phosphorylation, or "phosphorylopathy," of the CaV1.2 channel protein contributes to the excitotoxicity associated with Timothy syndrome and with chronic cyclosporin treatment of transplant patients...
- The many faces of the copper metabolism protein MURR1/COMMD1
P De Bie
Complex Genetics Section, DBG Department of Medical Genetics, University Medical Center, 3508 TA Utrecht, The Netherlands
J Hered 96:803-11. 2005
..We outline the possible mechanisms through which COMMD1 exerts these newly identified functions...
- Iron trafficking in the mitochondrion: novel pathways revealed by disease
Children s Cancer Institute Australia for Medical Research, Iron Metabolism and Chelation Program, PO Box 81, High St, Randwick, Sydney, New South Wales, 2031 Australia
Blood 105:1867-74. 2005
..In this review, we suggest a model of mitochondrial Fe processing that may account for the pathology observed in these disease states...
- Hematologically important mutations: iron storage diseases
Department of Molecular and Experimental Medicine, The Scripps Research Institute, La Jolla, CA 92037, USA
Blood Cells Mol Dis 33:40-4. 2004
- [From gene to disease: copper-transporting P ATPases alteration]
C Garcia Hejl
École du Val de Grâce, 1 Place Alphonse Laveran, 75005 Paris, France
Pathol Biol (Paris) 57:272-9. 2009
..This article focuses on the molecular pathogenesis of Wilson and Menkes disease, and discusses how causing mutations are correlated with molecular defects and disease phenotypes...
- Inherited canine copper toxicosis in Australian Bedlington Terriers
Victor Chang Cardiac Research Institute, St Vincent Hospital, 384 Victoria St, Darlinghurst, Sydney, NSW 2010, Australia
J Vet Sci 5:19-28. 2004
..The general findings related to CT-BT in this study was similar to those previously reported except few differences in histopathology and electron microscopy...
- Aceruloplasminemia, an iron metabolic disorder
First Department of Medicine, Hamamatsu University School of Medicine, Hamamatsu, Japan
Neuropathology 23:345-50. 2003
..The lack of ceruloplasmin may primarily damage astrocytes in the aceruloplasminemia brains through lipid peroxidation. Ceruloplasmin may play an essential role in neuronal survival in the central nervous system...
- Molecular basis of hereditary iron homeostasis defects
Department of Biology, Palacky University, Hnevotinska 3, Olomouc 775 15, Czech Republic
Hematology 15:96-111. 2010
..In addition, we will discuss molecular pathophysiology with implications for novel therapies of selected hereditary defects of iron homeostasis...
- Follow-up of five patients with FHHNC due to mutations in the Paracellin-1 gene
Matthias T F Wolf
, , 91054 Erlangen, Germany
Pediatr Nephrol 17:602-8. 2002
..Early treatment with vitamin D and calcium was essential to maintain growth. Adequate treatment allows for a normal height and pubertal development...
- Age-dependent and region-specific differences in the distribution of trace elements in 7 brain regions of Long-Evans Cinnamon (LEC) rats with hereditary abnormal copper metabolism
Department of Hygiene and Preventive Medicine, Hokkaido University School of Medicine, Sapporo, Japan
Brain Res 695:240-4. 1995
..These results showed that abnormal distributions of trace elements exist in the LEC rat brain before the onset of jaundice...
- Family investigations in idiopathic hypercalciuria
Department of Paediatrics, University Medical School, , Hungary
Eur J Pediatr 152:64-8. 1993
..RH is most probably inherited as an autosomal dominant trait (or has at least an autosomal dominant form), whereas AH is more likely to be associated with nutritional factors...
- Biliary excretion of copper in Fischer rats treated with copper salt and in Long-Evans cinnamon (LEC) rats with an inherently abnormal copper metabolism
Department of Public Health, School of Medicine, Sapporo Medical University, Japan
Biol Trace Elem Res 46:125-34. 1994
..Our results suggest that reduced biliary Cu excretion in LEC rats is not related to the small molecules, and that Cu cannot be excreted in the form of macromolecules in rats to decrease Cu from the Cu-loaded liver...
- Familial hypomagnesaemia--hypercalciuria leading to end-stage renal failure
J C Nicholson
Department of Nephrology, Royal Children s Hospital, Parkville, Victoria, Australia
Pediatr Nephrol 9:74-6. 1995
..This condition is a previously unreported cause of end-stage renal failure in childhood, and this report suggests that transplantation from heterozygous parental donors can be successfully undertaken without recurrence of the syndrome...
- Aceruloplasminemia: molecular characterization of this disorder of iron metabolism
Z L Harris
Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St Louis, MO 63110, USA
Proc Natl Acad Sci U S A 92:2539-43. 1995
..The clinical and laboratory findings suggest that additional patients with movement disorders and nonclassical Wilson disease should be examined for ceruloplasmin gene mutations...
- Toxic milk, a new mutation affecting cooper metabolism in the mouse
J Hered 74:141-4. 1983
..Mutants themselves amass extraordinarily large concentrations of hepatic copper that ultimately leads to liver disease. Erroneous hepatic copper metabolism is further evidenced by reduced ceruloplasmin activity...
- Congenital copper deficiency: copper therapy and dopamine-beta-hydroxylase activity in the mottled (brindled) mouse
J Neurochem 41:1648-52. 1983
..The present study provides insight into the long-term neurochemical changes resulting from a possible treatment regimen for Menkes' kinky hair syndrome...
- Zinc metabolism in lethal-milk mice. Otolith, lactation, and aging effects
L C Erway
J Hered 75:480-4. 1984
..Possible roles of metallothionein in zinc and copper metabolism are discussed in regard to the pleiotropic effects of the lethal-milk mutation...
- Primary defect in copper transport underlies mottled mutants in the mouse
D M Hunt
Nature 249:852-4. 1974
- Abnormal hepatic copper storage in a teleost fish (Morone americana)
T E Bunton
Division of Comparative Medicine, Johns Hopkins University School of Medicine, Baltimore, MD
Vet Pathol 24:515-24. 1987
..This study indicates that white perch may be a model for studying effects of excessive copper accumulation and cellular mechanisms which control copper kinetics...
- Use of 2,3,2-tetramine as a hepatic copper chelating agent for treatment of copper hepatotoxicosis in Bedlington terriers
D C Twedt
Department of Clinical Sciences, Colorado State University, Fort Collins 80523
J Am Vet Med Assoc 192:52-6. 1988
..Clinical or laboratory evidence of 2,3,2-tetramine toxicosis was not detected during treatment. These findings indicated that in affected Bedlington Terriers, 2,3,2-tetramine was a safe and rapid chelating agent of hepatic Cu...
- Inborn errors of trace metal metabolism
P J Aggett
Child Health and Nutrition, University of Aberdeen, Forester Hill
Br J Hosp Med 38:190-6, 200-1. 1987
..Some of these respond to treatment and prophylactic management while for some intractable conditions prenatal diagnosis is possible. All these abnormalities provide valuable insight into the normal metabolism of these vital elements...
- Hyperlipidemias, lipid storage disorders, metal storage disorders, and ochronosis
P J Rooney
McMaster University, Hamilton, Ontario, Canada
Curr Opin Rheumatol 3:166-71. 1991
- Developmental variation in copper, zinc and metallothionein mRNA in brindled mutant and nutritionally copper deficient mice
J F Mercer
Scobie and Claire Mackinnon Trace Element Laboratory, Murdoch Institute for Research into Birth Defects, Parkville, Victoria, Australia
Biochim Biophys Acta 1097:205-11. 1991
- Genetic defects of iron transport
R M Bannerman
Fed Proc 35:2281-5. 1976
- Binding of Cu to metallothionein in tissues of the LEC rat with inherited abnormal copper accumulation
Institute of Toxicology and Environmental Hygiene, Technical University, , Germany
Arch Toxicol 71:340-3. 1997
..This non-MT bound Cu showed good correlation with the total cytosolic Cu content, and might play a crucial role in the pathogenesis of Cu toxicosis...
- Nephrocalcinosis in three siblings with idiopathic hypercalciuria
, Kiel, Germany
Pediatr Nephrol 12:144-6. 1998
..Moreover, the fact that three of six siblings are affected raises the question of whether the renal form of IH is genetically distinct from other forms of IH...
- Iron and copper transport in yeast and its relevance to human disease
Department of Pathology, University of Utah, Salt Lake City 84132, USA
Trends Biochem Sci 23:135-8. 1998
..The mechanisms of iron and copper transport are remarkably conserved between yeast and humans. Studies of the yeast homologs of human disease genes involved in metal homeostasis have shed light on the pathophysiology of these disorders...
- Metal transporters and disease
Nancy C Andrews
HHMI Hematology, Enders 720, Children s Hospital, 300 Longwood Avenue, Boston, Massachusetts 02115, USA
Curr Opin Chem Biol 6:181-6. 2002
..This review summarizes recently described steps in the transport of these metals, and explores how defects in these steps lead to human diseases including hemochromatosis, Menkes disease and Wilson disease...
- H63D mutation in the HFE gene increases iron overload in beta-thalassemia carriers
Maria Antonietta Melis
Dipartimento Scienze Biomediche e Biotecnologie, Sezione Clinica e Biologia dell Età Evolutiva, Universita degli Studi di Cagliari, Italy
Haematologica 87:242-5. 2002
..The aim of this study was to evaluate the effect of the H63D mutation on the ferritin levels of beta-thalassemia carriers...
- [Zinc and copper in diseases of the digestive tract] ]
Interní gastroenterologická klinika FN Brno, pracoviste Bohunice
Vnitr Lek 48:22-6. 2002
..In practice we are faced in particular with secondary causes of impaired zinc or copper levels, e.g. in chronic diarrhoeal conditions, coeliac disease, chronic pancreatitis and others...
- A new neurological entity manifesting as involuntary movements and dysarthria with possible abnormal copper metabolism
Department of Neurology, Teikyo University School of Medicine, Ichihara Hospital, 3426 3 Anesaki, Ichihara City, Chiba 299 0111, Japan
J Neurol Neurosurg Psychiatry 71:780-3. 2001
- ATP6H, a subunit of vacuolar ATPase involved in metal transport: evaluation in canine copper toxicosis
Department of Medical Genetics, 8 39 Medical Sciences Building, University of Alberta, Edmonton, Alberta, Canada T6G 2H7
Mamm Genome 12:617-21. 2001
..We have therefore excluded canine ATP6H as a candidate gene for canine copper toxicosis, indicating that some other unidentified gene is responsible for this copper storage disease...
- Iatrogenic copper deficiency associated with long-term copper chelation for treatment of copper storage disease in a Bedlington Terrier
M A Seguin
Department of Clinical Sciences, College of Veterinary Medicine, North Carolina State University, Raleigh 27606, USA
J Am Vet Med Assoc 218:1593-7, 1580. 2001
..Serum and hair copper concentrations were also low. Chelation and dietary copper restriction were tapered and discontinued. Clinical signs and all clinicopathologic abnormalities improved during a period of several months...
- Diagnostic potential of histochemical demonstration for copper-orcein stain
Department of Pathology, Lady Hardinge Medical College, New Delhi
J Indian Med Assoc 98:434-5, 438. 2000
..Variable copper content in the same histological grade of the disease could be due to individual factors such as genetic milieu which determine the amount of copper liver can store without toxicity...
- Microsatellite marker C04107 as a diagnostic marker for copper toxicosis in the Danish population of Bedlington terriers
H F Proschowsky
Department of Animal Science and Health, The Royal Veterinary and Agricultural University, Frederiksberg, Denmark
Acta Vet Scand 41:345-50. 2000
..Thus, the marker can be used in a diagnostic test for copper toxicosis in Denmark...
- Comparison of hypocalcemic hypercalciuria between patients with idiopathic hypoparathyroidism and those with gain-of-function mutations in the calcium-sensing receptor: is it possible to differentiate the two disorders?
Third Department of Internal Medicine, National Defense Medical College, Saitama, Japan
J Clin Endocrinol Metab 85:4583-91. 2000
- Hereditary ceruloplasmin deficiency increases advanced glycation end products in the brain
Third Department of Internal Medicine, Yamagata University School of Medicine, Japan
Neurology 53:619-22. 1999
..These data suggest that ceruloplasmin plays an important role in the protection of neurons against oxidative stress associated with iron metabolism...
- Inherited disorders of iron metabolism
Department of Laboratory Medicine, University of Vienna, Austria
Kidney Int Suppl 69:S22-34. 1999
..This review focuses on the most recent advances in the field of hereditary disorders of iron metabolism and discusses their potential implications for nephrologists...
- Genetic mapping of the copper toxicosis locus in Bedlington terriers to dog chromosome 10, in a region syntenic to human chromosome region 2p13-p16
B J van de Sluis
Department of Human Genetics, Utrecht University, PO Box 80030, 3508 TA Utrecht, The Netherlands
Hum Mol Genet 8:501-7. 1999
..2-22.5. A transcribed sequence identified from the C04107-containing BAC was found to be homologous to a gene expressed from human chromosome 2p13-p16, a region devoid of any positional candidate genes...
- Hereditary isolated renal magnesium loss maps to chromosome 11q23
I C Meij
Department of Pediatrics, University Hospital Nijmegen, Nijmegen, The Netherlands
Am J Hum Genet 64:180-8. 1999
..We conclude that this region encompasses a gene, involved in renal magnesium handling, that is mutated in our patients and is different from the gene involved in intestinal magnesium handling...
- [Mice with mottled mutation--a model for defective copper metabolism in humans]
, , Krakowie
Postepy Hig Med Dosw 52:527-41. 1998
..In human Menkes disease caused by X-linked Atp7a mutant gene leads to death in early childhood. Because of is 89% of homology between Atp7aMo gene and Atp7a locus in human, mottled mutations are an excellent model for Menkes disease...
- Abnormal cellular copper metabolism in the blotchy mouse
J Nutr 108:1229-33. 1978
..Copper accumulated in fibroblasts cultured from these mutants to values that were five times normal. The accumulation of copper in the fibroblasts was associated with a protein of approximately 12,000 molecular weight...
- Copper associated acute hepatic failure in a dog
L J Noaker
Department of Clinical Studies, School of Veterinary Medicine, University of Pennsylvania, Philadelphia 19104 6010, USA
J Am Vet Med Assoc 214:1502-6, 1495. 1999
..Primary copper storage disease was suspected on the basis of histologic findings and high copper concentration in the liver...