Genomic instability and DNA replication defects in progeroid syndromes

Mandibuloacral dysplasia: A premature ageing disease with aspects of physiological ageing

(2018) Vittoria Cenni et al.   AGEING RESEARCH REVIEWS

Progerin sequestration of PCNA promotes replication fork collapse and mislocalization of XPA in laminopathy-related progeroid syndromes

(2017) Benjamin A. Hilton et al.   FASEB JOURNAL

Shared molecular and cellular mechanisms of premature ageing and ageing-associated diseases

(2017) Nard Kubben et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Progerin impairs vascular smooth muscle cell growth via the DNA damage response pathway

(2017) Daisuke Kinoshita et al.   Oncotarget

A Case of Novel Lamin A/C Mutation Manifesting as Atypical Progeroid Syndrome and Cardiomyopathy

(2016) Xiaoxiao Guo et al.   CANADIAN JOURNAL OF CARDIOLOGY

Clinical Trial of the Protein Farnesylation Inhibitors Lonafarnib, Pravastatin, and Zoledronic Acid in Children With Hutchinson-Gilford Progeria SyndromeClinical Perspective

(2016) Leslie B. Gordon et al.   CIRCULATION

Mandibuloacral dysplasia and LMNA A529V mutation in Turkish patients with severe skeletal changes and absent breast development

(2016) Leyla Ozer et al.   CLINICAL DYSMORPHOLOGY

XPA: A key scaffold for human nucleotide excision repair

(2016) Norie Sugitani et al.   DNA REPAIR

POLD1: Central mediator of DNA replication and repair, and implication in cancer and other pathologies

(2016) Emmanuelle Nicolas et al.   GENE

A novel homozygous LMNA mutation (p.Met540Ile) causes mandibuloacral dysplasia type A

(2016) Vahid Reza Yassaee et al.   GENE

The Werner syndrome RECQ helicase targets G4 DNA in human cells to modulate transcription

(2016) Weiliang Tang et al.   HUMAN MOLECULAR GENETICS

NovelLMNAmutations cause an aggressive atypical neonatal progeria without progerin accumulation

(2016) Clara Soria-Valles et al.   JOURNAL OF MEDICAL GENETICS

Elements That Regulate the DNA Damage Response of Proteins Defective in Cockayne Syndrome

(2016) Teruaki Iyama et al.   JOURNAL OF MOLECULAR BIOLOGY

Active Control of Repetitive Structural Transitions between Replication Forks and Holliday Junctions by Werner Syndrome Helicase

(2016) Soochul Shin et al.   STRUCTURE

Disruption of PCNA-lamins A/C interactions by prelamin A induces DNA replication fork stalling

(2016) Andrew M. Cobb et al.   Nucleus

Mammalian telomeres and their partnership with lamins

(2016) Romina Burla et al.   Nucleus

The nuclear lamina in health and disease

(2016) Agnieszka Dobrzynska et al.   Nucleus

Disruption of PCNA-lamins A/C interactions by prelamin A induces DNA replication fork stalling

(2016) Andrew M. Cobb et al.   Nucleus

Mammalian telomeres and their partnership with lamins

(2016) Romina Burla et al.   Nucleus

The nuclear lamina in health and disease

(2016) Agnieszka Dobrzynska et al.   Nucleus

Genomic instability and DNA damage responses in progeria arising from defective maturation of prelamin A

(2016) Phillip R. Musich et al.   Aging-US

POLD1Germline Mutations in Patients Initially Diagnosed with Werner Syndrome

(2015) Davor Lessel et al.   HUMAN MUTATION

Genomic diagnosis by whole genome sequencing in a Korean family with atypical progeroid syndrome

(2015) Seungbok Lee et al.   JOURNAL OF DERMATOLOGY

Skin Disease in Laminopathy-Associated Premature Aging

(2015) Tomás McKenna et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

A Werner syndrome stem cell model unveils heterochromatin alterations as a driver of human aging

(2015) W. Zhang et al.   SCIENCE

AKTIP/Ft1, a New Shelterin-Interacting Factor Required for Telomere Maintenance

(2015) Romina Burla et al.   PLoS Genetics

Mandibuloacral dysplasia type A-associated progeria caused by homozygous LMNA mutation in a family from Southern China

(2014) Di-Qing Luo et al.   BMC Pediatrics

TRF1 negotiates TTAGGG repeat-associated replication problems by recruiting the BLM helicase and the TPP1/POT1 repressor of ATR signaling

(2014) Michal Zimmermann et al.   GENES & DEVELOPMENT

Identification of a novel mutation in the polymerase delta 1 (POLD1) gene in a lipodystrophic patient affected by mandibular hypoplasia, deafness, progeroid features (MDPL) syndrome

(2014) Caterina Pelosini et al.   METABOLISM-CLINICAL AND EXPERIMENTAL

Systematic identification of pathological lamin A interactors

(2014) Travis A. Dittmer et al.   MOLECULAR BIOLOGY OF THE CELL

Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features

(2014) Davor Lessel et al.   NATURE GENETICS

Regulation of gene expression by the BLM helicase correlates with the presence of G-quadruplex DNA motifs

(2014) Giang Huong Nguyen et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Nuclear matrix, nuclear envelope and premature aging syndromes in a translational research perspective

(2014) Pierre Cau et al.   SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY

Spartan deficiency causes genomic instability and progeroid phenotypes

(2014) Reeja S. Maskey et al.   Nature Communications

Nurturing the genome

(2014) Ignacio Gonzalez-Suarez et al.   Nucleus

Identification of differential protein interactors of lamin A and progerin

(2014) Nard Kubben et al.   Nucleus

Hutchinson-Gilford progeria syndrome through the lens of transcription

(2013) Miron Prokocimer et al.   AGING CELL

LMNA-associated cardiocutaneous progeria: An inherited autosomal dominant premature aging syndrome with late onset

(2013) Megan S. Kane et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The Hallmarks of Aging

(2013) Carlos López-Otín et al.   CELL

Lamin A/C Depletion Enhances DNA Damage-Induced Stalled Replication Fork Arrest

(2013) Mayank Singh et al.   MOLECULAR AND CELLULAR BIOLOGY

An in-frame deletion at the polymerase active site of POLD1 causes a multisystem disorder with lipodystrophy

(2013) Michael N Weedon et al.   NATURE GENETICS

An inheritedLMNAgene mutation in atypical Progeria syndrome

(2012) Yassamine Doubaj et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Familial partial lipodystrophy, mandibuloacral dysplasia and restrictive dermopathy feature barrier-to-autointegration factor (BAF) nuclear redistribution

(2012) Cristina Capanni et al.   CELL CYCLE

Segregation of Replicative DNA Polymerases during S Phase

(2012) Markku Vaara et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Shining a Light on Xeroderma Pigmentosum

(2012) John J. DiGiovanna et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Regulation of error-prone translesion synthesis by Spartan/C1orf124

(2012) Myoung Shin Kim et al.   NUCLEIC ACIDS RESEARCH

Exome Sequencing and Functional Analysis Identifies BANF1 Mutation as the Cause of a Hereditary Progeroid Syndrome

(2011) Xose S. Puente et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Néstor-Guillermo progeria syndrome: A novel premature aging condition with early onset and chronic development caused by BANF1 mutations

(2011) Rubén Cabanillas et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The role of DNA damage in laminopathy progeroid syndromes

(2011) Christopher J. Hutchison   BIOCHEMICAL SOCIETY TRANSACTIONS

LMNA mutation in progeroid syndrome in association with strokes

(2011) L. Gonzalez-Quereda et al.   European Journal of Medical Genetics

RecQ helicases in DNA double strand break repair and telomere maintenance

(2011) Dharmendra Kumar Singh et al.   MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS

Dyskeratosis Congenita

(2011) I. Dokal   Hematology-American Society of Hematology Education Program

Early onset mandibuloacral dysplasia due to compound heterozygous mutations in ZMPSTE24

(2010) Zahid Ahmad et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Molecular Causes for BUBR1 Dysfunction in the Human Cancer Predisposition Syndrome Mosaic Variegated Aneuploidy

(2010) Saskia J.E. Suijkerbuijk et al.   CANCER RESEARCH

Homozygous null mutations in ZMPSTE24 in restrictive dermopathy: evidence of genetic heterogeneity

(2010) Z Ahmad et al.   CLINICAL GENETICS

Absence of progeria-like disease phenotypes in knock-in mice expressing a non-farnesylated version of progerin

(2010) Shao H. Yang et al.   HUMAN MOLECULAR GENETICS

Role of progerin-induced telomere dysfunction in HGPS premature cellular senescence

(2010) E. K. Benson et al.   JOURNAL OF CELL SCIENCE

A Novel Syndrome of Mandibular Hypoplasia, Deafness, and Progeroid Features Associated with Lipodystrophy, Undescended Testes, and Male Hypogonadism

(2010) Savitha Shastry et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Homozygous LMNA mutation R527C in atypical Hutchinson-Gilford progeria syndrome: evidence for autosomal recessive inheritance

(2009) Lili Liang et al.   ACTA PAEDIATRICA

Progeroid syndrome with scleroderma-like skin changes associated with homozygous R435CLMNAmutation

(2009) Agnieszka Madej-Pilarczyk et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Mandibuloacral dysplasia type A in childhood

(2009) L. Garavelli et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Atypical generalized lipoatrophy and severe insulin resistance due to a heterozygous LMNA p.T10I mutation

(2009) Patricia B. Mory et al.   Arquivos Brasileiros de Endocrinologia e Metabologia

Novel roles for A-type lamins in telomere biology and the DNA damage response pathway

(2009) Ignacio Gonzalez-Suarez et al.   EMBO JOURNAL

Atypical Progeroid Syndrome due to Heterozygous MissenseLMNAMutations

(2009) Abhimanyu Garg et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Telomere length in Hutchinson-Gilford Progeria Syndrome

(2009) Michelle L. Decker et al.   MECHANISMS OF AGEING AND DEVELOPMENT

Ageing-related chromatin defects through loss of the NURD complex

(2009) Gianluca Pegoraro et al.   NATURE CELL BIOLOGY

Novel LMNA Gene Mutation in a Patient With Atypical Werner's Syndrome

(2009) Yun Jeong Doh et al.   KOREAN JOURNAL OF INTERNAL MEDICINE

Association of homozygousLMNAmutation R471C with new phenotype: Mandibuloacral dysplasia, progeria, and rigid spine muscular dystrophy

(2008) Birgit Zirn et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

RecQ helicases: guardian angels of the DNA replication fork

(2008) Csanád Z. Bachrati et al.   CHROMOSOMA

The highly conserved nuclear lamin Ig-fold binds to PCNA: its role in DNA replication

(2008) Dale K. Shumaker et al.   JOURNAL OF CELL BIOLOGY

Progerin elicits disease phenotypes of progeria in mice whether or not it is farnesylated

(2008) Shao H. Yang et al.   JOURNAL OF CLINICAL INVESTIGATION

HGPS and related premature aging disorders: From genomic identification to the first therapeutic approaches

(2008) Sandrine Pereira et al.   MECHANISMS OF AGEING AND DEVELOPMENT

Tethering by lamin A stabilizes and targets the ING1 tumour suppressor

(2008) Xijing Han et al.   NATURE CELL BIOLOGY

Novel LMNA Mutation in Atypical Werner Syndrome Presenting With Ischemic Disease

(2008) Dimitri Renard et al.   STROKE

Involvement of xeroderma pigmentosum group A (XPA) in progeria arising from defective maturation of prelamin A

(2007) Yiyong Liu et al.   FASEB JOURNAL