Menkes and Wilson diseases.

Menkes and Wilson diseases.

Manylion Llyfryddiaeth
Prif Awduron:	Monaco, A, Chelly, J
Fformat:	Journal article
Iaith:	English
Cyhoeddwyd:	1995

Eitemau Tebyg

Wilson disease and Menkes disease: new handles on heavy-metal transport.
gan: Bull, P, et al.
Cyhoeddwyd: (1994)

Cloning the Wilson disease gene.
gan: Chelly, J, et al.
Cyhoeddwyd: (1993)

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

A Golgi localization signal identified in the Menkes recombinant protein.
gan: Francis, M, et al.
Cyhoeddwyd: (1998)

Analysis of Mnk, the murine homologue of the locus for Menkes disease, in normal and mottled (Mo) mice.
gan: George, A, et al.
Cyhoeddwyd: (1994)

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

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

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

Genetics of Menkes Disease
gan: J Gordon Millichap
Cyhoeddwyd: (1994-11-01)

Characterization of a 1.0 Mb YAC contig spanning two chromosome breakpoints related to Menkes disease.
gan: Tümer, Z, et al.
Cyhoeddwyd: (1992)

Biochemical Marker for Menkes Disease
gan: J Gordon Millichap
Cyhoeddwyd: (1993-02-01)

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

ANALYSIS OF MUTATIONS AT THE MOTTLED LOCUS IN THE MOUSE, THE POSTULATED MURINE HOMOLOG OF MENKE SYNDROME
gan: Reed, V, et al.
Cyhoeddwyd: (1993)

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

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

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

Menkes Disease: Copper-Histidine Therapy
gan: J Gordon Millichap
Cyhoeddwyd: (1993-11-01)

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

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

Emergence of kinky hair in Menkes disease
gan: Hannah A. Oppenheim, et al.
Cyhoeddwyd: (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
gan: Iwona Cichon, et al.
Cyhoeddwyd: (2020-01-01)

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

The Menkes disease ATPase is internalised by a novel membrane traffic route mediated by Rac1 GTPase
gan: Coventry, J, et al.
Cyhoeddwyd: (2002)

Menkes’ Syndrome with Cerebellar Hypoplasia
gan: J Gordon Millichap
Cyhoeddwyd: (1997-02-01)

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

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

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

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

Response of Fibroblasts from Menkes’ and Wilson’s Copper Metabolism-Related Disorders to Ionizing Radiation: Influence of the Nucleo-Shuttling of the ATM Protein Kinase
gan: Laura El Nachef, et al.
Cyhoeddwyd: (2023-12-01)

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

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

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

Non-Menkes Type Copper Deficiency
gan: J Gordon Millichap
Cyhoeddwyd: (1991-09-01)

The Menkes disease ATPase (ATP7A) is internalized via a Rac1-regulated, clathrin- and caveolae-independent pathway.
gan: Cobbold, C, et al.
Cyhoeddwyd: (2003)

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

Characterization of the Menkes protein copper-binding domains and their role in copper-induced protein relocalization.
gan: Goodyer, I, et al.
Cyhoeddwyd: (1999)

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

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

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

Imaging findings of Menkes disease, a radiographic mimic of abusive trauma
gan: Oyindamola N. Akinseye, BA, et al.
Cyhoeddwyd: (2019-08-01)