Wilson disease and Menkes disease: new handles on heavy-metal transport.

Wilson disease and Menkes disease: new handles on heavy-metal transport.

Little is known at the molecular level about the homeostatic control of heavy-metal concentrations in mammals. Recently, however, two human diseases that disrupt copper transport, Menkes disease and Wilson disease, were found to be caused by mutations in two closely related genes, MNK and WND, which...

Bibliográfalaš dieđut
Váldodahkkit:	Bull, P, Cox, D
Materiálatiipa:	Journal article
Giella:	English
Almmustuhtton:	1994

Geahča maid

Menkes and Wilson diseases.
Dahkki: Monaco, A, et al.
Almmustuhtton: (1995)

The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene.
Dahkki: Bull, P, et al.
Almmustuhtton: (1993)

IDENTIFICATION OF A COPPER-BINDING ATPASE HOMOLOGOUS TO THE MENKES GENE - A CANDIDATE FOR THE WILSON DISEASE GENE
Dahkki: Cox, D, et al.
Almmustuhtton: (1994)

Genetics of Menkes Disease
Dahkki: J Gordon Millichap
Almmustuhtton: (1994-11-01)

Haplotype studies in Wilson disease.
Dahkki: Thomas, G, et al.
Almmustuhtton: (1994)

Isolation of a candidate gene for Menkes disease that encodes a potential heavy metal binding protein.
Dahkki: Chelly, J, et al.
Almmustuhtton: (1993)

Biochemical Marker for Menkes Disease
Dahkki: J Gordon Millichap
Almmustuhtton: (1993-02-01)

Menkes disease: Case report
Dahkki: Aayushi Mohan, et al.
Almmustuhtton: (2018-01-01)

Menkes kinky hair disease
Dahkki: Sanjiv V Choudhary, et al.
Almmustuhtton: (2012-01-01)

Menkes' disease: case report Doença de Menkes: relato de caso
Dahkki: Fabio Agertt, et al.
Almmustuhtton: (2007-03-01)

HAPLOTYPES IN WILSON DISEASE - IMPLICATIONS FOR MUTATIONAL ANALYSIS
Dahkki: Thomas, G, et al.
Almmustuhtton: (1993)

Menkes Disease: Copper-Histidine Therapy
Dahkki: J Gordon Millichap
Almmustuhtton: (1993-11-01)

Neonatal Diagnosis and Treatment of Menkes Disease
Dahkki: J Gordon Millichap
Almmustuhtton: (2008-02-01)

Menkes Disease with ‘Ragged Red’ Fibers
Dahkki: J Gordon Millichap
Almmustuhtton: (1989-01-01)

Emergence of kinky hair in Menkes disease
Dahkki: Hannah A. Oppenheim, et al.
Almmustuhtton: (2024-05-01)

Reduced Neutrophil Extracellular Trap (NET) Formation During Systemic Inflammation in Mice With Menkes Disease and Wilson Disease: Copper Requirement for NET Release
Dahkki: Iwona Cichon, et al.
Almmustuhtton: (2020-01-01)

Long range restriction mapping of 13q14.3 focused on the Wilson disease region.
Dahkki: Bull, P, et al.
Almmustuhtton: (1993)

REGIONAL LOCALIZATION OF CHROMOSOME-13 CLONES AND THEIR APPLICATION TO WILSON DISEASE
Dahkki: Bull, P, et al.
Almmustuhtton: (1991)

ATP7A-Regulated Enzyme Metalation and Trafficking in the Menkes Disease Puzzle
Dahkki: Nina Horn, et al.
Almmustuhtton: (2021-04-01)

Conditional knockout of the Menkes disease copper transporter demonstrates its critical role in embryogenesis.
Dahkki: Yanfang Wang, et al.
Almmustuhtton: (2012-01-01)

Menkes Maple Syrup Urine Disease: Treatment
Dahkki: J Gordon Millichap
Almmustuhtton: (1991-02-01)

Menkes Disease Presenting with Epilepsia Partialis Continua
Dahkki: Tamer Rizk, et al.
Almmustuhtton: (2014-01-01)

Imaging features that allow for the recognition of Menkes disease
Dahkki: José Iram Mendonça do Rego, et al.
Almmustuhtton: (2014-05-01)

Menkes kinky hair disease: Role of dermatologist
Dahkki: Bela Jaswantlal Shah, et al.
Almmustuhtton: (2018-01-01)

Mapping of the mouse homologue of the Wilson disease gene to mouse chromosome 8.
Dahkki: Reed, V, et al.
Almmustuhtton: (1995)

Almost misdiagnosed Menkes disease: A case report
Dahkki: Yu Guo, et al.
Almmustuhtton: (2022-04-01)

Clinical expression of Menkes disease in females with normal karyotype
Dahkki: Møller Lisbeth, et al.
Almmustuhtton: (2012-01-01)

Molecular basis of neurodegeneration and neurodevelopmental defects in Menkes disease
Dahkki: Stephanie Zlatic, et al.
Almmustuhtton: (2015-09-01)

Mottled mice and non-mammalian models of Menkes disease
Dahkki: malgorzata elenartowicz, et al.
Almmustuhtton: (2015-12-01)

PHYSICAL MAPPING OF 13Q14.3 FOCUSED ON THE REGION OF THE WILSON DISEASE LOCUS
Dahkki: Bull, P, et al.
Almmustuhtton: (1993)

Is It a Pathogenic ATP7A Variation and Is It Menkes Disease?
Dahkki: Zeynep Tümer
Almmustuhtton: (2015-01-01)

Menkes Kinky Hair Syndrome: A Rare Neurodegenerative Disease
Dahkki: Rozil Gandhi, et al.
Almmustuhtton: (2012-01-01)

Vacuolization in Myeloid and Erythroid Precursors in a Child with Menkes Disease
Dahkki: Seçil Sayın, et al.
Almmustuhtton: (2019-08-01)

Menkes disease as a differential diagnosis of child abuse Doença de Menkes como diagnóstico diferencial de abuso de criança
Dahkki: Juliana Harumi Arita, et al.
Almmustuhtton: (2009-06-01)

Isolation of new probes in the region of the Wilson disease locus, 13q14.2-->q14.3.
Dahkki: Bull, P, et al.
Almmustuhtton: (1993)

PHYSICAL MAPPING FOCUSED ON THE REGION OF THE WILSON DISEASE LOCUS (WND) .1. LOCALIZATION OF 2 ESTABLISHED AND 16 NEW CHROMOSOME-13 MARKERS
Dahkki: Cox, D, et al.
Almmustuhtton: (1993)

Characterization of the exon structure of the Menkes disease gene using vectorette PCR.
Dahkki: Tümer, Z, et al.
Almmustuhtton: (1995)

Novel membrane traffic steps regulate the exocytosis of the Menkes disease ATPase.
Dahkki: Cobbold, C, et al.
Almmustuhtton: (2002)

Low function of natural killer cells in treated classic Menkes disease
Dahkki: Jayalakshmi Narayan Bhat, et al.
Almmustuhtton: (2020-06-01)

Infantile Neurodegeneration and Hair Changes: A Rare Case of Menkes Disease
Dahkki: Nikhil Vikas Pawar, et al.
Almmustuhtton: (2022-01-01)