(Q45147432)

10 December 2017

title

Characterization of six novel mutations in the CYBB gene leading to different sub-types of X-linked chronic granulomatous disease (English)

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X-linked chronic granulomatous disease

10 December 2017

main subject

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author name string

Marie José Stasia

1

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10 December 2017

Pierre Bordigoni

2

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10 December 2017

Daniel Floret

3

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10 December 2017

Jean Paul Brion

4

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10 December 2017

Cécile Bost-Bru

5

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10 December 2017

Gérard Michel

6

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10 December 2017

Pierre Gatel

7

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10 December 2017

Denis Durant-Vital

8

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10 December 2017

Marie Antoinette Voelckel

9

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10 December 2017

Xing Jun Li

10

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10 December 2017

Michèle Guillot

11

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10 December 2017

Elisabeth Maquet

12

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10 December 2017

Cécile Martel

13

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10 December 2017

Françoise Morel

14

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10 December 2017

publication date

6 November 2004

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10 December 2017

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10 December 2017

volume

116

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10 December 2017

issue

1-2

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10 December 2017

page(s)

72-82

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https://scigraph.springernature.com/pub.10.1007/s00439-004-1208-5

10 December 2017

exact match

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cites work

Cleavage of Structural Proteins during the Assembly of the Head of Bacteriophage T4

1 reference

12 December 2020

Mutations in the promoter region of the gene for gp91-phox in X-linked chronic granulomatous disease with decreased expression of cytochrome b558.

1 reference

12 December 2020

Molecular and functional characterization of a new X-linked chronic granulomatous disease variant (X91+) case with a double missense mutation in the cytosolic gp91phox C-terminal tail.

1 reference

12 December 2020

Cytochrome b-245 is a flavocytochrome containing FAD and the NADPH-binding site of the microbicidal oxidase of phagocytes

1 reference

12 December 2020

Polymorphic DNA region adjacent to the 5' end of the human insulin gene

1 reference

12 December 2020

Functional analysis of two-amino acid substitutions in gp91 phox in a patient with X-linked flavocytochrome b558-positive chronic granulomatous disease by means of transgenic PLB-985 cells

1 reference

12 December 2020

The respiratory burst of bovine neutrophils. Role of a b type cytochrome and coenzyme specificity.

1 reference

12 December 2020

Functional analysis of NADPH oxidase in granulocytic cells expressing a delta488-497 gp91(phox) deletion mutant.

1 reference

12 December 2020

The association of nonsense codons with exon skipping

1 reference

12 December 2020

Molecular analysis in three cases of X91- variant chronic granulomatous disease

1 reference

12 December 2020

Gene deletions causing human genetic disease: mechanisms of mutagenesis and the role of the local DNA sequence environment

1 reference

12 December 2020

Isolation of mononuclear cells and granulocytes from human blood. Isolation of monuclear cells by one centrifugation, and of granulocytes by combining centrifugation and sedimentation at 1 g

1 reference

12 December 2020

Activation of O2(-)-generating oxidase in an heterologous cell-free system derived from Epstein-Barr-virus-transformed human B lymphocytes and bovine neutrophils. Application to the study of defects in cytosolic factors in chronic granulomatous dise

1 reference

12 December 2020

Characterization of two monoclonal antibodies against cytochrome b558 of human neutrophils

1 reference

12 December 2020

Exon recognition in vertebrate splicing

1 reference

12 December 2020

A novel mutation at a probable heme-binding ligand in neutrophil cytochrome b558 in atypical X-linked chronic granulomatous disease

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12 December 2020

A variant X-linked chronic granulomatous disease patient (X91+) with partially functional cytochrome b

1 reference

12 December 2020

Electrophoretic transfer of proteins from polyacrylamide gels to nitrocellulose sheets: procedure and some applications

1 reference

12 December 2020

Human B lymphocytes synthesize the 92-kDa gelatinase, matrix metalloproteinase-9.

1 reference

12 December 2020

The mutational spectrum of single base-pair substitutions causing human genetic disease: patterns and predictions

1 reference

12 December 2020

Biochemical and immunochemical properties of B lymphocyte cytochrome b558

1 reference

12 December 2020

Severe Clinical Forms of Cytochromeb–Negative Chronic Granulomatous Disease (X91−) in 3 Brothers with a Point Mutation in the Promoter Region ofCYBB

1 reference

12 December 2020

Probing the role of the carboxyl terminus of the gp91phox subunit of neutrophil flavocytochrome b558 using site-directed mutagenesis

1 reference

12 December 2020

Chronic granulomatous disease. Report on a national registry of 368 patients

1 reference

12 December 2020

Cloning the gene for an inherited human disorder--chronic granulomatous disease--on the basis of its chromosomal location

1 reference

12 December 2020

Genetic, biochemical, and clinical features of chronic granulomatous disease.

1 reference

12 December 2020

Identification of mutations in seven Chinese patients with X-linked chronic granulomatous disease.

1 reference

12 December 2020

Mutation at histidine 338 of gp91(phox) depletes FAD and affects expression of cytochrome b558 of the human NADPH oxidase

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12 December 2020

Mutations in the X-linked and autosomal recessive forms of chronic granulomatous disease.

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12 December 2020

Complementation of NADPH oxidase in p67-phox-deficient CGD patients

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12 December 2020

DNA linkage analysis of X chromosome-linked chronic granulomatous disease

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12 December 2020

Chronic granulomatous disease.

1 reference

12 December 2020

A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein-dye binding

1 reference

12 December 2020

Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction

1 reference

12 December 2020

Toll-like receptors: key mediators of microbe detection.

1 reference

12 December 2020

A new mutation in exon 12 of the gp91-phox gene leading to cytochrome b-positive X-linked chronic granulomatous disease

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12 December 2020

Four novel mutations in the gene encoding gp91-phox of human NADPH oxidase: consequences for oxidase assembly

1 reference

12 December 2020

Point mutations in the promoter region of the CYBB gene leading to mild chronic granulomatous disease

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12 December 2020

X-Linked chronic granulomatous disease: mutations in the CYBB gene encoding the gp91-phox component of respiratory-burst oxidase.

1 reference

12 December 2020

The superoxide-generating NADPH oxidase: structural aspects and activation mechanism

1 reference

12 December 2020

Complementation of NADPH oxidase in p67-phox-deficient CGD patients p67-phox/p40-phox interaction

1 reference

12 December 2020

10.1007/S00439-004-1208-5

Identifiers

DOI

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Dimensions Publication ID

10 December 2017

1006465340

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