Novel LMNA mutations cause an aggressive atypical neonatal progeria without progerin accumulation.

about

Nuclear envelopathies: a complex LINC between nuclear envelope and pathology.Lipodystrophic syndromes due to LMNA mutations: recent developments on biomolecular aspects, pathophysiological hypotheses and therapeutic perspectives.Lipodystrophic laminopathies: Diagnostic clues.

P2860

Q41571110-269BCD10-ED8F-4563-85A8-6239F29D852A Q51759528-3786C37B-6731-46E7-9F15-BF588435E687 Q51761347-B18790B8-7519-4C22-ABBB-619A17B43F7A

P2860

Novel LMNA mutations cause an aggressive atypical neonatal progeria without progerin accumulation.

Item

http://www.wikidata.org/entity/Q46593831

description

2016 nî lūn-bûn

@nan

2016年の論文

@ja

2016年学术文章

@wuu

2016年学术文章

@zh

2016年学术文章

@zh-cn

2016年学术文章

@zh-hans

2016年学术文章

@zh-my

2016年学术文章

@zh-sg

2016年學術文章

@yue

2016年學術文章

@zh-hant

name

Novel LMNA mutations cause an ...... without progerin accumulation.

@en

Novel LMNA mutations cause an ...... without progerin accumulation.

@nl

type

Item

label

Novel LMNA mutations cause an ...... without progerin accumulation.

@en

Novel LMNA mutations cause an ...... without progerin accumulation.

@nl

prefLabel

Novel LMNA mutations cause an ...... without progerin accumulation.

@en

Novel LMNA mutations cause an ...... without progerin accumulation.

@nl

P1476

Novel LMNA mutations cause an ...... without progerin accumulation.

@en

P2093

Ana Pérez

http://www.w3.org/2001/XMLSchema#string

Clara Soria-Valles

http://www.w3.org/2001/XMLSchema#string

Clea Bárcena

http://www.w3.org/2001/XMLSchema#string

Diana A Puente

http://www.w3.org/2001/XMLSchema#string

Dido Carrero

http://www.w3.org/2001/XMLSchema#string

Elisabeth Gabau

http://www.w3.org/2001/XMLSchema#string

Gloria Velasco

http://www.w3.org/2001/XMLSchema#string

Marleen Moens

http://www.w3.org/2001/XMLSchema#string

Martina Owens

http://www.w3.org/2001/XMLSchema#string

Nicolas Lévy

http://www.w3.org/2001/XMLSchema#string

P2860

Exome sequencing identifies a novel mutation in PIK3R1 as the cause of SHORT syndrome

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

Exome sequencing and functional analysis identifies BANF1 mutation as the cause of a hereditary progeroid syndrome

Lamin A-dependent nuclear defects in human aging

Intermediate filament mechanics in vitro and in the cell: from coiled coils to filaments, fibers and networks

The coiled-coil trigger site of the rod domain of cortexillin I unveils a distinct network of interhelical and intrahelical salt bridges

Removing an interhelical salt bridge abolishes coiled-coil formation in a de novo designed peptide

Mutations in filamin C cause a new form of familial hypertrophic cardiomyopathy

The hallmarks of aging

Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease

P31

scholarly article

P356

10.1136/JMEDGENET-2015-103695

http://www.w3.org/2001/XMLSchema#string

P407

English

P50

Carlos López Otín

Víctor Quesada

Annachiara De Sandre-Giovannoli

Bart L Loeys

Wim Wuyts

Karen Fieggen

P577

2016-06-22T00:00:00Z

http://www.w3.org/2001/XMLSchema#dateTime

P698

27334370

http://www.w3.org/2001/XMLSchema#string

Novel LMNA mutations cause an aggressive atypical neonatal progeria without progerin accumulation.

about

P2860

P2860

Novel LMNA mutations cause an aggressive atypical neonatal progeria without progerin accumulation.

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P31

P356

P407

P50

P577

P698

P356

P1433

P1476

P2093

P2860

P31

P356

P407

P50

P577

P698