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Showing 1–22 of 22 results

Advanced filters: Author: Jane Gitschier Clear advanced filters

Mutations in the V2 vasopressin receptor gene are associated with X–linked nephrogenic diabetes insipidus

Yang Pan
Aida Metzenberg
Jane Gitschier
Research01 Oct 1992
Nature Genetics

Volume: 2, P: 103-106
Genetic mapping and diagnosis of haemophilia A achieved through a BclI polymorphism in the factor VIII gene

Jane Gitschier
Dennis Drayna
Richard M. Lawn
Research25 Apr 1985
Nature

Volume: 314, P: 738-740
Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A

Delia Lakich
Haig H. Kazazian Jr.
Jane Gitschier
Research01 Nov 1993
Nature Genetics

Volume: 5, P: 236-241
Characterization of the human factor VIII gene

Jane Gitschier
William I. Wood
Richard M. Lawn
Research22 Nov 1984
Nature

Volume: 312, P: 326-330
Detection and sequence of mutations in the factor VIII gene of haemophiliacs

Jane Gitschier
William I. Wood
Richard M. Lawn
Research30 May 1985
Nature

Volume: 315, P: 427-430
Deletion of the promoter region in the Atp7a gene of the mottled dappled mouse

Barbara Levinson
Seymour Packman
Jane Gitschier
Correspondence01 Jul 1997
Nature Genetics

Volume: 16, P: 224-225
Expression of active human factor VIII from recombinant DNA clones

William I. Wood
Daniel J. Capon
Richard M. Lawn
Research22 Nov 1984
Nature

Volume: 312, P: 330-337
The mottled gene is the mouse homologue of the Menkes disease gene

Barbara Levinson
Christopher Vulpe
Jane Gitschier
Research01 Apr 1994
Nature Genetics

Volume: 6, P: 369-373
Ironing out anaemia

Chris Vulpe
Jane Gitschier
News & Views01 Aug 1997
Nature Genetics

Volume: 16, P: 319-320
Are X–linked cutis laxa and Menkes disease allelic?

Barbara Levinson
Jane Gitschier
Seymour Packman
Correspondence01 Jan 1993
Nature Genetics

Volume: 3, P: 6
A novel gene involved in zinc transport is deficient in the lethal milk mouse

Liping Huang
Jane Gitschier
Research01 Nov 1997
Nature Genetics

Volume: 17, P: 292-297
Solution structure of the fourth metal-binding domain from the Menkes copper-transporting ATPase

Jane Gitschier
Barbara Moffat
Wayne J. Fairbrother
Research01 Jan 1998
Nature Structural Biology

Volume: 5, P: 47-54
A protein kinase involved in the regulation of inflammatory cytokine biosynthesis

John C. Lee
Jeffrey T. Laydon
Peter R. Young
Research29 Dec 1994
Nature

Volume: 372, P: 739-746
Emerin deletion reveals a common X-chromosome inversion mediated by inverted repeats

Kersten Small
Jane Iber
Stephen T. Warren
Research01 May 1997
Nature Genetics

Volume: 16, P: 96-99
Correction: Corrigendum: PLA2G6, encoding a phospholipase A₂, is mutated in neurodegenerative disorders with high brain iron

Neil V Morgan
Shawn K Westaway
Susan J Hayflick
Amendments and Corrections01 Aug 2006
Nature Genetics

Volume: 38, P: 957
PLA2G6, encoding a phospholipase A₂, is mutated in neurodegenerative disorders with high brain iron

Neil V Morgan
Shawn K Westaway
Susan J Hayflick
Research18 Jun 2006
Nature Genetics

Volume: 38, P: 752-754
Hephaestin, a ceruloplasmin homologue implicated in intestinal iron transport, is defective in the sla mouse

Christopher D. Vulpe
Yien-Ming Kuo
Gregory J. Anderson
Research01 Feb 1999
Nature Genetics

Volume: 21, P: 195-199
Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper–transporting ATPase

Christopher Vulpe
Barbara Levinson
Jane Gitschier
Research01 Jan 1993
Nature Genetics

Volume: 3, P: 7-13
A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome

Bing Zhou
Shawn K. Westaway
Susan J. Hayflick
Research23 Jul 2001
Nature Genetics

Volume: 28, P: 345-349
The pallid gene encodes a novel, syntaxin 13-interacting protein involved in platelet storage pool deficiency

Liping Huang
Yien-Ming Kuo
Jane Gitschier
Research01 Nov 1999
Nature Genetics

Volume: 23, P: 329-332
Mutation Analysis and Expression of the Mottled Gene in the Macular Mouse Model of Menkes Disease

Yoshiko Murata
Hiroko Kodama
Seymour Packman
Research01 Oct 1997
Pediatric Research

Volume: 42, P: 436-442
Proposed structure of the A domains of factor VIII by homology modelling

We have predicted a structure for the three A domains of blood coagulation factor VIII by virtue of their homology to blue copper-binding proteins. This structure, consisting of six β-barrels, is arranged in a triangular configuration with a single type II copper-binding site linking the A1 and A3 domains.

Yang Pan
Tom DeFay
Fred E. Cohen
Correspondence01 Sept 1995
Nature Structural Biology

Volume: 2, P: 740-744

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Mutations in the V2 vasopressin receptor gene are associated with X–linked nephrogenic diabetes insipidus

Genetic mapping and diagnosis of haemophilia A achieved through a BclI polymorphism in the factor VIII gene

Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A

Characterization of the human factor VIII gene

Detection and sequence of mutations in the factor VIII gene of haemophiliacs

Deletion of the promoter region in the Atp7a gene of the mottled dappled mouse

Expression of active human factor VIII from recombinant DNA clones

The mottled gene is the mouse homologue of the Menkes disease gene

Ironing out anaemia

Are X–linked cutis laxa and Menkes disease allelic?

A novel gene involved in zinc transport is deficient in the lethal milk mouse

Solution structure of the fourth metal-binding domain from the Menkes copper-transporting ATPase

A protein kinase involved in the regulation of inflammatory cytokine biosynthesis

Emerin deletion reveals a common X-chromosome inversion mediated by inverted repeats

Correction: Corrigendum: PLA2G6, encoding a phospholipase A₂, is mutated in neurodegenerative disorders with high brain iron

PLA2G6, encoding a phospholipase A₂, is mutated in neurodegenerative disorders with high brain iron

Hephaestin, a ceruloplasmin homologue implicated in intestinal iron transport, is defective in the sla mouse

Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper–transporting ATPase

A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome

The pallid gene encodes a novel, syntaxin 13-interacting protein involved in platelet storage pool deficiency

Mutation Analysis and Expression of the Mottled Gene in the Macular Mouse Model of Menkes Disease

Proposed structure of the A domains of factor VIII by homology modelling

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