Werner and Hutchinson-Gilford progeria syndromes: mechanistic basis of human progeroid diseases. (Q36798321)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17450177%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

review article

1 reference

title

Werner and Hutchinson-Gilford progeria syndromes: mechanistic basis of human progeroid diseases (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17450177%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

1 reference

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17450177%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

author name string

Brian A Kudlow

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17450177%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

Raymond J Monnat

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17450177%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

publication date

1 May 2007

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17450177%20AND%20SRC:MED&resulttype=core&format=json

Nature Reviews Molecular Cell Biology

29 December 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17450177%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

volume

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17450177%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

issue

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17450177%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

page(s)

394-404

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17450177%20AND%20SRC:MED&resulttype=core&format=json

A Review of its Symptomatology, Natural History, Pathologic Features, Genetics And Relationship to the Natural Aging Process

29 December 2019

cites work

1 reference

Werner's syndrome protein is required for correct recovery after replication arrest and DNA damage induced in S-phase of cell cycle

21 January 2018

1 reference

Hutchinson-Gilford progeria syndrome: review of the phenotype.

21 January 2018

1 reference

Prevention of accelerated cell aging in Werner syndrome using a p38 mitogen-activated protein kinase inhibitor.

21 January 2018

1 reference

On Cataract in Conjunction with Scleroderma

21 January 2018

1 reference

Hierarchical deterioration of body systems in Werner's syndrome: implications for normal ageing

31 March 2020

1 reference

The spectrum of WRN mutations in Werner syndrome patients

31 March 2020

1 reference

Werner syndrome and mutations of the WRN and LMNA genes in France

31 March 2020

1 reference

Positional cloning of the Werner's syndrome gene

31 March 2020

1 reference

RecQ helicases: suppressors of tumorigenesis and premature aging.

31 March 2020

1 reference

Junction of RecQ helicase biochemistry and human disease.

31 March 2020

1 reference

WRN helicase expression in Werner syndrome cell lines

31 March 2020

1 reference

Differential regulation of human RecQ family helicases in cell transformation and cell cycle

31 March 2020

1 reference

The Werner syndrome protein has separable recombination and survival functions

31 March 2020

1 reference

An apoptosis-inducing genotoxin differentiates heterozygotic carriers for Werner helicase mutations from wild-type and homozygous mutants

31 March 2020

1 reference

Epigenetic inactivation of the premature aging Werner syndrome gene in human cancer

31 March 2020

1 reference

Positionally cloned human disease genes: patterns of evolutionary conservation and functional motifs

31 March 2020

1 reference

Comparative sequence analysis of ribonucleases HII, III, II PH and D

31 March 2020

1 reference

Loss of Werner syndrome protein function promotes aberrant mitotic recombination

31 March 2020

1 reference

Homologous recombination resolution defect in werner syndrome

31 March 2020

1 reference

rqh1+, a fission yeast gene related to the Bloom's and Werner's syndrome genes, is required for reversible S phase arrest

31 March 2020

1 reference

The Werner syndrome helicase and exonuclease cooperate to resolve telomeric D loops in a manner regulated by TRF1 and TRF2

31 March 2020

1 reference

Essential role of limiting telomeres in the pathogenesis of Werner syndrome

31 March 2020

1 reference

Telomere shortening exposes functions for the mouse Werner and Bloom syndrome genes

31 March 2020

1 reference

Defective telomere lagging strand synthesis in cells lacking WRN helicase activity.

31 March 2020

1 reference

Elevated telomere-telomere recombination in WRN-deficient, telomere dysfunctional cells promotes escape from senescence and engagement of the ALT pathway

31 March 2020

1 reference

Telomere dysfunction as a cause of genomic instability in Werner syndrome

31 March 2020

1 reference

POT1 stimulates RecQ helicases WRN and BLM to unwind telomeric DNA substrates

31 March 2020

1 reference

A role for WRN in telomere-based DNA damage responses

31 March 2020

1 reference

Telomere instability in a human tumor cell line expressing a dominant-negative WRN protein

31 March 2020

1 reference

Werner syndrome protein--unwinding function to explain disease

31 March 2020

1 reference

Functional role of the Werner syndrome RecQ helicase in human fibroblasts.

31 March 2020

1 reference

What can progeroid syndromes tell us about human aging?

31 March 2020

1 reference

Problems of somatic mutation and cancer

31 March 2020

1 reference

Senescent cells, tumor suppression, and organismal aging: good citizens, bad neighbors

31 March 2020

1 reference

Mutations in the WRN gene in mice accelerate mortality in a p53-null background

31 March 2020

1 reference

A deletion within the murine Werner syndrome helicase induces sensitivity to inhibitors of topoisomerase and loss of cellular proliferative capacity

31 March 2020

1 reference

Congenital Absence of Hair and Mammary Glands with Atrophic Condition of the Skin and its Appendages, in a Boy whose Mother had been almost wholly Bald from Alopecia Areata from the age of Six.

31 March 2020

1 reference

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

31 March 2020

1 reference

Lamin a truncation in Hutchinson-Gilford progeria.

31 March 2020

1 reference

LMNA is mutated in Hutchinson-Gilford progeria (MIM 176670) but not in Wiedemann-Rautenstrauch progeroid syndrome (MIM 264090).

31 March 2020

1 reference

Compound heterozygosity for mutations in LMNA causes a progeria syndrome without prelamin A accumulation

31 March 2020

1 reference

Homologies in both primary and secondary structure between nuclear envelope and intermediate filament proteins

31 March 2020

1 reference

Nuclear lamins: their structure, assembly, and interactions

31 March 2020

1 reference

Nuclear organization of DNA replication in primary mammalian cells.

31 March 2020

1 reference

Alteration of nuclear lamin organization inhibits RNA polymerase II-dependent transcription

31 March 2020

1 reference

A mechanism of AP-1 suppression through interaction of c-Fos with lamin A/C.

31 March 2020

1 reference

Lamin A/C and emerin are critical for skeletal muscle satellite cell differentiation

31 March 2020

1 reference

Stabilization of the retinoblastoma protein by A-type nuclear lamins is required for INK4A-mediated cell cycle arrest

31 March 2020

1 reference

A-type nuclear lamins, progerias and other degenerative disorders.

31 March 2020

1 reference

Loss of A-type lamin expression compromises nuclear envelope integrity leading to muscular dystrophy

31 March 2020

1 reference

Defects in nuclear structure and function promote dilated cardiomyopathy in lamin A/C-deficient mice

31 March 2020

1 reference

Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse

31 March 2020

1 reference

LMNA mutations in atypical Werner's syndrome

31 March 2020

1 reference

Farnesylated lamins, progeroid syndromes and farnesyl transferase inhibitors

31 March 2020

1 reference

Defective prelamin A processing and muscular and adipocyte alterations in Zmpste24 metalloproteinase-deficient mice.

31 March 2020

1 reference

Distinct structural and mechanical properties of the nuclear lamina in Hutchinson-Gilford progeria syndrome

31 March 2020

1 reference

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

31 March 2020

1 reference

Genomic instability in laminopathy-based premature aging

31 March 2020

1 reference

Lamin A-dependent nuclear defects in human aging

31 March 2020

1 reference

Zmpste24 deficiency in mice causes spontaneous bone fractures, muscle weakness, and a prelamin A processing defect.

31 March 2020

1 reference

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

31 March 2020

1 reference

Blocking protein farnesyltransferase improves nuclear blebbing in mouse fibroblasts with a targeted Hutchinson-Gilford progeria syndrome mutation.

31 March 2020

1 reference

A protein farnesyltransferase inhibitor ameliorates disease in a mouse model of progeria.

31 March 2020

1 reference

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

31 March 2020

1 reference

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

31 March 2020

1 reference

Blocking protein farnesyltransferase improves nuclear shape in fibroblasts from humans with progeroid syndromes

31 March 2020

1 reference

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

31 March 2020

1 reference

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

31 March 2020

1 reference

The truncated prelamin A in Hutchinson-Gilford progeria syndrome alters segregation of A-type and B-type lamin homopolymers

31 March 2020

1 reference

Accelerated ageing in mice deficient in Zmpste24 protease is linked to p53 signalling activation.

31 March 2020

1 reference

Correction of cellular phenotypes of Hutchinson-Gilford Progeria cells by RNA interference

31 March 2020

1 reference

Genome-scale expression profiling of Hutchinson-Gilford progeria syndrome reveals widespread transcriptional misregulation leading to mesodermal/mesenchymal defects and accelerated atherosclerosis

31 March 2020

1 reference

Increased Elastin Production by Progeria Skin Fibroblasts is Controlled by the Steady-State Levels of Elastin mRNA

31 March 2020

1 reference

Aggrecan expression is substantially and abnormally upregulated in Hutchinson-Gilford Progeria Syndrome dermal fibroblasts.

31 March 2020

1 reference

Lamin A/C deficiency causes defective nuclear mechanics and mechanotransduction.

31 March 2020

1 reference

A progeroid syndrome in mice is caused by defects in A-type lamins

31 March 2020

1 reference

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

31 March 2020

1 reference

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

31 March 2020

1 reference

'Accelerated aging': a primrose path to insight?

31 March 2020

1 reference

Genetic modulation of senescent phenotypes in Homo sapiens

31 March 2020

1 reference

A new progeroid syndrome reveals that genotoxic stress suppresses the somatotroph axis

31 March 2020

1 reference

Impaired genome maintenance suppresses the growth hormone--insulin-like growth factor 1 axis in mice with Cockayne syndrome

31 March 2020

1 reference

The plasticity of aging: insights from long-lived mutants

31 March 2020

1 reference

The enzymatic activities of the Werner syndrome protein are disabled by the amino acid polymorphism R834C.

31 March 2020

1 reference

The stem-cell niche as an entity of action

31 March 2020

1 reference

Secretion of vascular endothelial growth factor by primary human fibroblasts at senescence

31 March 2020

1 reference

Novel lamin A/C gene (LMNA) mutations in atypical progeroid syndromes

31 March 2020

1 reference

Homozygous missense mutation in the lamin A/C gene causes autosomal recessive Hutchinson-Gilford progeria syndrome

31 March 2020

1 reference

Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C

31 March 2020

1 reference

A novel homozygous Ala529Val LMNA mutation in Turkish patients with mandibuloacral dysplasia

31 March 2020

1 reference

Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy

31 March 2020

1 reference

Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasia

31 March 2020

1 reference

Loss of ZMPSTE24 (FACE-1) causes autosomal recessive restrictive dermopathy and accumulation of Lamin A precursors.

31 March 2020

1 reference

LMNA mutation in a 45 year old Japanese subject with Hutchinson-Gilford progeria syndrome.

31 March 2020

1 reference

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

31 March 2020

1 reference