Phenotype and course of Hutchinson-Gilford progeria syndrome (Q24607381)

19

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Lynn N Gerber

12

object named as

Lynn H Gerber

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Richard O. Cannon

23

object named as

Richard O Cannon

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Leslie B Gordon

2

object named as

Leslie B Gordon

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author name string

Melissa A Merideth

1

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Sarah Clauss

3

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Vandana Sachdev

4

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Ann C M Smith

5

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Monique B Perry

6

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Carmen C Brewer

7

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Christopher Zalewski

8

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H Jeffrey Kim

9

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Beth Solomon

10

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Brian P Brooks

11

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Maria L Turner

13

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Demetrio L Domingo

14

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Thomas C Hart

15

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Jennifer Graf

16

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James C Reynolds

17

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Andrea Gropman

18

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Marie Gerhard-Herman

20

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Elizabeth G Nabel

22

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William A Gahl

24

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Wendy J Introne

The New England Journal of Medicine

25

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language of work or name

English

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publication date

7 February 2008

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published in

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volume

358

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issue

6

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page(s)

592-604

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cites work

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Inhibiting farnesylation of progerin prevents the characteristic nuclear blebbing of Hutchinson-Gilford progeria syndrome

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Reversal of the cellular phenotype in the premature aging disease Hutchinson-Gilford progeria syndrome

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Accumulation of mutant lamin A causes progressive changes in nuclear architecture in Hutchinson-Gilford progeria syndrome

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Recurrent de novo point mutations in lamin A cause Hutchinson–Gilford progeria syndrome

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A lamin A protein isoform overexpressed in Hutchinson-Gilford progeria syndrome interferes with mitosis in progeria and normal cells

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A farnesyltransferase inhibitor improves disease phenotypes in mice with a Hutchinson-Gilford progeria syndrome mutation.

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Prelamin A and lamin A appear to be dispensable in the nuclear lamina

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Progressive vascular smooth muscle cell defects in a mouse model of Hutchinson-Gilford progeria syndrome

27 September 2017

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Inhibiting farnesylation reverses the nuclear morphology defect in a HeLa cell model for Hutchinson-Gilford progeria syndrome

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Incomplete processing of mutant lamin A in Hutchinson-Gilford progeria leads to nuclear abnormalities, which are reversed by farnesyltransferase inhibition

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Lamin a truncation in Hutchinson-Gilford progeria.

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27 September 2017

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Amino-aciduria and hypermetabolism in progeria

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28 November 2018

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28 November 2018

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28 November 2018

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12 December 2020

Histological and ultrastructural features of atherosclerosis in progeria

1 reference

12 December 2020

Variation in Endogenous Nitrogen Excretion and Dietary Nitrogen Utilization as Determinants of Human Protein Requirement

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12 December 2020

Impaired flow-mediated vasodilation, carotid artery intima-media thickening, and elevated endothelial plasma markers in obese children: the impact of cardiovascular risk factors

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12 December 2020

Identifiers

DOI

10.1056/NEJMOA0706898

1 reference

release_mjygrvqfszdofici3g37rly6wy

1549621

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/mjygrvqfszdofici3g37rly6wy

24 November 2022

mapped directly with Wikidata item

1549621

1 reference

1 reference

1 reference