Cortisone-reductase deficiency associated with heterozygous mutations in 11beta-hydroxysteroid dehydrogenase type 1. (Q34164894)

31 July 2017

title

Cortisone-reductase deficiency associated with heterozygous mutations in 11beta-hydroxysteroid dehydrogenase type 1. (English)

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31 July 2017

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7

Paul M Stewart

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Alexander J. Lawson

object named as

Alexander J Lawson

1

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Wiebke Arlt

object named as

Wiebke Arlt

6

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author name string

Elizabeth A Walker

2

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31 July 2017

Gareth G Lavery

3

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31 July 2017

Iwona J Bujalska

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31 July 2017

Beverly Hughes

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31 July 2017

Jonathan P Ride

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31 July 2017

language of work or name

English

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publication date

15 February 2011

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Proceedings of the National Academy of Sciences of the United States of America

31 July 2017

published in

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31 July 2017

volume

108

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31 July 2017

issue

10

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31 July 2017

page(s)

4111-4116

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Mutations of key hydrophobic surface residues of 11β-hydroxysteroid dehydrogenase type 1 increase solubility and monodispersity in a bacterial expression system

31 July 2017

cites work

1 reference

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Steroid biomarkers and genetic studies reveal inactivating mutations in hexose-6-phosphate dehydrogenase in patients with cortisone reductase deficiency

5 July 2018

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Hexose 6-phosphate dehydrogenase (H6PD) and corticosteroid metabolism

5 July 2018

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Mechanisms of disease: Selective inhibition of 11beta-hydroxysteroid dehydrogenase type 1 as a novel treatment for the metabolic syndrome

5 July 2018

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11beta-hydroxysteroid dehydrogenase type 1: a tissue-specific regulator of glucocorticoid response

5 July 2018

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5 July 2018

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Close-range electrostatic interactions in proteins

5 July 2018

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Critical residues for structure and catalysis in short-chain dehydrogenases/reductases

5 July 2018

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Functional expression, characterization, and purification of the catalytic domain of human 11-beta -hydroxysteroid dehydrogenase type 1.

5 July 2018

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The N-terminal anchor sequences of 11beta-hydroxysteroid dehydrogenases determine their orientation in the endoplasmic reticulum membrane

5 July 2018

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Targeting proteins to the lumen of endoplasmic reticulum using N-terminal domains of 11beta-hydroxysteroid dehydrogenase and the 50-kDa esterase

5 July 2018

1 reference

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11beta-hydroxysteroid dehydrogenase type 1 knockout mice show attenuated glucocorticoid-inducible responses and resist hyperglycemia on obesity or stress

5 July 2018

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Does central obesity reflect "Cushing's disease of the omentum"?

5 July 2018

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Complex salt bridges in proteins: statistical analysis of structure and function

5 July 2018

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Daily cortisol production rate in man determined by stable isotope dilution/mass spectrometry

5 July 2018

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11Beta-hydroxysteroid dehydrogenase type 1: purification from human liver and characterization as carbonyl reductase of xenobiotics

5 July 2018

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High-level production and optimization of monodispersity of 11beta-hydroxysteroid dehydrogenase type 1.

21 January 2018

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The crystal structure of guinea pig 11beta-hydroxysteroid dehydrogenase type 1 provides a model for enzyme-lipid bilayer interactions

21 January 2018

1 reference

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Crystal structure of murine 11 beta-hydroxysteroid dehydrogenase 1: an important therapeutic target for diabetes

21 January 2018

1 reference

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Conformational flexibility in crystal structures of human 11beta-hydroxysteroid dehydrogenase type I provide insights into glucocorticoid interconversion and enzyme regulation

21 January 2018

1 reference

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Hexose-6-phosphate dehydrogenase knock-out mice lack 11 beta-hydroxysteroid dehydrogenase type 1-mediated glucocorticoid generation

21 January 2018

1 reference

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Hexose-6-phosphate dehydrogenase confers oxo-reductase activity upon 11 beta-hydroxysteroid dehydrogenase type 1.

21 January 2018

1 reference

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Protein stability and surface electrostatics: a charged relationship.

21 January 2018

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Electrostatic enhancement of diffusion-controlled protein-protein association: comparison of theory and experiment on barnase and barstar.

21 January 2018

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Interactions across the interface contribute the stability of homodimeric 3alpha-hydroxysteroid dehydrogenase/carbonyl reductase

21 January 2018

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Thermostability of salt bridges versus hydrophobic interactions in proteins probed by statistical potentials.

21 January 2018

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Defects in the HSD11 gene encoding 11 beta-hydroxysteroid dehydrogenase are not found in patients with apparent mineralocorticoid excess or 11-oxoreductase deficiency

21 January 2018

1 reference

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Tyr-179 and Lys-183 are essential for enzymatic activity of 11β-hydroxysteroid dehydrogenase

28 October 2018

1 reference

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Protein-protein association: investigation of factors influencing association rates by Brownian dynamics simulations

21 January 2018

1 reference

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Salt Bridges Stabilize the Folded Structure of Barnase

21 January 2018

1 reference

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Mass spectrometry in the diagnosis of steroid-related disorders and in hypertension research

21 January 2018

1 reference

12 December 2020

Apparent cortisone reductase deficiency: a unique form of hypercortisolism

1 reference

12 December 2020

Failure of cortisone acetate treatment in congenital adrenal hyperplasia because of defective 11beta-hydroxysteroid dehydrogenase reductase activity

1 reference

12 December 2020

Apparent cortisone reductase deficiency: a functional defect in 11beta-hydroxysteroid dehydrogenase type 1

1 reference

12 December 2020

Identifiers

DOI

10.1073/PNAS.1014934108

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31 July 2017

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31 July 2017

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