#PAGE_PARAMS# #ADS_HEAD_SCRIPTS# #MICRODATA#

preLekára.sk

FSHD: A Repeat Contraction Disease Finally Ready to Expand (Our Understanding of Its Pathogenesis)

English version České info

article has not abstract

Vyšlo v časopise: FSHD: A Repeat Contraction Disease Finally Ready to Expand (Our Understanding of Its Pathogenesis). PLoS Genet 6(10): e32767. doi:10.1371/journal.pgen.1001180
Kategorie: Perspective
prolekare.web.journal.doi_sk: https://doi.org/10.1371/journal.pgen.1001180

Souhrn

article has not abstract

Zdroje

1. PearsonCE

Nichol EdamuraK

ClearyJD

2005 Repeat instability: mechanisms of dynamic mutations. Nat Rev Genet 6 729 42

2. LemmersRJLF

van der MaarelSM

2009 Facioscapulohumeral Muscular Dystrophy.

PagonRA

BirdTC

DolanCR

StephensK

GeneReviews [Internet] Seattle (WA) University of Washington, Seattle; 1993 -⁠ [updated 2009 Jul 9]

3. DmitrievP

LipinskiM

VassetzkyYS

2009 Pearls in the junk: dissecting the molecular pathogenesis of facioscapulohumeral muscular dystrophy. Neuromuscul Disord 19 17 20

4. SniderL

GengLN

LemmersRJLF

KybaM

WareCB

2010 Facioscapulohumeral dystrophy: incomplete suppression of a retrotransposed gene. PLoS Genet 6 e1001181 doi:10.1371/journal.pgen.1001181

5. ZengW

de GreefJC

ChenYY

ChienR

KongX

2009 Specific loss of histone H3 lysine 9 trimethylation and HP1gamma/cohesin binding at D4Z4 repeats is associated with facioscapulohumeral dystrophy (FSHD). PLoS Genet 5 e1000559 doi:10.1371/journal.pgen.1000559

6. GabelliniD

GreenMR

TuplerR

2002 Inappropriate gene activation in FSHD: a repressor complex binds a chromosomal repeat deleted in dystrophic muscle. Cell 110 339 48

7. van OverveldPG

LemmersRJ

SandkuijlLA

EnthovenL

WinokurST

2003 Hypomethylation of D4Z4 in 4q-linked and non-4q-linked facioscapulohumeral muscular dystrophy. Nat Genet 35 315 317

8. de GreefJC

LemmersRJ

van EngelenBG

SacconiS

VenanceSL

2009 Common epigenetic changes of D4Z4 in contraction-dependent and contraction-independent FSHD. Hum Mutat 30 1449 1459

9. DixitM

AnsseauE

TassinA

WinokurS

ShiR

2007 DUX4, a candidate gene of facioscapulohumeral muscular dystrophy, encodes a transcriptional activator of PITX1. Proc Natl Acad Sci U S A 104 18157 18162

10. ClappJ

MitchellLM

BollandDJ

FantesJ

CorcoranAE

2007 Evolutionary conservation of a coding function for D4Z4, the tandem DNA repeat mutated in facioscapulohumeral muscular dystrophy. Am J Hum Genet 81 264 279

11. SniderL

AsawachaicharnA

TylerAE

GengLN

PetekLM

2009 RNA transcripts, miRNA-sized fragments and proteins produced from D4Z4 units: new candidates for the pathophysiology of facioscapulohumeral dystrophy. Hum Mol Genet 18 2414 2430

12. BosnakovskiD

XuZ

GangEJ

GalindoCL

LiuM

2008 An isogenetic myoblast expression screen identifies DUX4-mediated FSHD-associated molecular pathologies. EMBO J 27 2766 79

13. LemmersRJ

van der VlietPJ

KloosterR

SacconiS

CamañoP

2010 A Unifying genetic model for facioscapulohumeral muscular dystrophy. Science 329 1650 1653

Štítky

Genetika Reprodukčná medicína

Článek Common Genetic Variants and Modification of Penetrance of -Associated Breast Cancer

Článek Genome-Wide Identification of Targets and Function of Individual MicroRNAs in Mouse Embryonic Stem Cells

Článek Allele-Specific Down-Regulation of Expression Induced by Retinoids Contributes to Climate Adaptations

Článek The Meiotic Recombination Checkpoint Suppresses NHK-1 Kinase to Prevent Reorganisation of the Oocyte Nucleus in

Článek Actin Depolymerizing Factors Cofilin1 and Destrin Are Required for Ureteric Bud Branching Morphogenesis

Článek DSIF and RNA Polymerase II CTD Phosphorylation Coordinate the Recruitment of Rpd3S to Actively Transcribed Genes

Článek Continuous Requirement for the Clr4 Complex But Not RNAi for Centromeric Heterochromatin Assembly in Fission Yeast Harboring a Disrupted RITS Complex

Článek Genome-Wide Association Study of Blood Pressure Extremes Identifies Variant near Associated with Hypertension

Článek The Cytosine Methyltransferase DRM2 Requires Intact UBA Domains and a Catalytically Mutated Paralog DRM3 during RNA–Directed DNA Methylation in

Článek β-Actin and γ-Actin Are Each Dispensable for Auditory Hair Cell Development But Required for Stereocilia Maintenance

Článek Genetic Association Study Identifies as a Risk Gene for Idiopathic Dilated Cardiomyopathy

Článek Evidence for a Xer/ System for Chromosome Resolution in Archaea

Článek Four Novel Loci (19q13, 6q24, 12q24, and 5q14) Influence the Microcirculation

Článek Lifespan Extension by Preserving Proliferative Homeostasis in

Článek Ancient and Recent Adaptive Evolution of Primate Non-Homologous End Joining Genes

Článek Loss of the p53/p63 Regulated Desmosomal Protein Perp Promotes Tumorigenesis

Článek Altering a Histone H3K4 Methylation Pathway in Glomerular Podocytes Promotes a Chronic Disease Phenotype

Článek Characterization of LINE-1 Ribonucleoprotein Particles

Článek Conserved Genes Act as Modifiers of Invertebrate SMN Loss of Function Defects

Článek Alternative Splicing at a NAGNAG Acceptor Site as a Novel Phenotype Modifier

Článek Tight Regulation of the Gene of the KplE1 Prophage: A New Paradigm for Integrase Gene Regulation

Článek Conjugative DNA Transfer Induces the Bacterial SOS Response and Promotes Antibiotic Resistance Development through Integron Activation

Článek Nasty Viruses, Costly Plasmids, Population Dynamics, and the Conditions for Establishing and Maintaining CRISPR-Mediated Adaptive Immunity in Bacteria

Článek Stress-Induced Activation of Heterochromatic Transcription

Článek H3K27me3 Profiling of the Endosperm Implies Exclusion of Polycomb Group Protein Targeting by DNA Methylation

Článek Simultaneous Disruption of Two DNA Polymerases, Polη and Polζ, in Avian DT40 Cells Unmasks the Role of Polη in Cellular Response to Various DNA Lesions

Článek Characterising and Predicting Haploinsufficiency in the Human Genome

Článek Dual Functions of ASCIZ in the DNA Base Damage Response and Pulmonary Organogenesis

Článek Pervasive Cryptic Epistasis in Molecular Evolution

Článek Transition from Positive to Neutral in Mutation Fixation along with Continuing Rising Fitness in Thermal Adaptive Evolution

Článek Comprehensive Analysis Reveals Dynamic and Evolutionary Plasticity of Rab GTPases and Membrane Traffic in

Článek Regulates Tissue-Specific Mitochondrial DNA Segregation

Článek Role for the Mammalian Swi5-Sfr1 Complex in DNA Strand Break Repair through Homologous Recombination

Článok vyšiel v časopise

PLOS Genetics

2010 Číslo 10

Najčítanejšie tento týždeň

Najčítanejšie v tomto čísle

Kurzy

Zvýšte si kvalifikáciu online z pohodlia domova

nový kurz

Autori: doc. MUDr. David Zemánek, Ph.D., MUDr. Anna Chaloupka, Ph.D.

#ADS_BOTTOM_SCRIPTS#