MMG PUBLICATIONS

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Results: 1693  publications found.

Didier, N.  et al. 2012

Loss of a single allele for Ku80 leads to progenitor dysfunction and accelerated aging in skeletal muscle

Muscle wasting is a major cause of morbidity in the elderly. Ku80 is required for DNA double strand repair and is implicated in telomere maintenance. Complete loss-of-function leads to reduced...
EMBO Mol Med - issue: 9 - volume: 4 - pages: 910-923.


Calderon, D.  et al. 2012

Immune response to human embryonic stem cell-derived cardiac progenitors and adipose-derived stromal cells

Transplantation of allogeneic human embryonic stem cell-derived cardiac progenitors triggers an immune response. We assessed whether this response could be modulated by the concomitant use of...
J. Cell. Mol. Med. - issue: 7 - volume: 16 - pages: 1544-1552.


Streichemberger, E.  et al. 2012

Case report of apoptosis in testis of four AZFc-deleted patients: increased DNA fragmentation during meiosis, but decreased apoptotic markers in post-meiotic germ cells

AZFc deletions of the Y chromosome are the major known genetic cause of spermatogenetic failure. Meiotic studies have shown a prevalence of synaptonemal complex fragmentation and an excess of...
Hum. Reprod. - issue: 7 - volume: 27 - pages: 1939-1945.


Grandval, P.  et al. 2012

Colon-specific phenotype in Lynch syndrome associated with EPCAM deletion

WOS:000305129600017
Clin. Genet. - issue: 1 - volume: 82 - pages: 97-99.


Zaffran, S.  et al. 2012

New developments in the second heart field

During cardiac looping the heart tube elongates by addition of progenitor cells from adjacent pharyngeal mesoderm to the arterial and venous poles. This cell population, termed the second heart field,...
Differentiation - issue: 1 - volume: 84 - pages: .


Zaffran, S.  et al. 2012

New developments in the second heart field

During cardiac looping the heart tube elongates by addition of progenitor cells from adjacent pharyngeal mesoderm to the arterial and venous poles. This cell population, termed the second heart field,...
Differentiation - issue: 1 - volume: 84 - pages: 17-24.


Boon, R.  et al. 2012

A Day in the Life of a Young Investigator

WOS:000306977000005
Circulation - issue: 25 - volume: 125 - pages: F145-F150.


Decarpentrie, F.  et al. 2012

Human and mouse ZFY genes produce a conserved testis-specific transcript encoding a zinc finger protein with a short acidic domain and modified transactivation potential

Mammalian ZFY genes are located on the Y chromosome, and code putative transcription factors with 12-13 zinc fingers preceded by a large acidic (activating) domain. In mice, there are two genes, Zfy1...
Hum. Mol. Genet. - issue: 12 - volume: 21 - pages: 2631-2645.


Decarpentrie, F.  et al. 2012

Human and mouse ZFY genes produce a conserved testis-specific transcript encoding a zinc finger protein with a short acidic domain and modified transactivation potential

Mammalian ZFY genes are located on the Y chromosome, and code putative transcription factors with 12-13 zinc fingers preceded by a large acidic (activating) domain. In mice, there are two genes, Zfy1...
Hum. Mol. Genet. - issue: 12 - volume: 21 - pages: 2631-2645.


Baudot, C.  et al. 2012

Two novel missense mutations in FGD4/FRABIN cause Charcot-Marie-Tooth type 4H (CMT4H)

By sequencing of the FGD4 coding sequence in a cohort of 101 patients affected by autosomal recessive demyelinating Charcot-Marie-Tooth disease (CMT), we have identified two novel missense mutations...
J. Peripher. Nerv. Syst. - issue: 2 - volume: 17 - pages: 141-146.


Chassaing, N.  et al. 2012

OTX2 mutations contribute to the otocephaly-dysgnathia complex

BACKGROUND: Otocephaly or dysgnathia complex is characterised by mandibular hypoplasia/agenesis, ear anomalies, microstomia, and microglossia; the molecular basis of this developmental defect is...
J. Med. Genet. - issue: 6 - volume: 49 - pages: 373-379.


Baudot, C.  et al. 2012

Two novel missense mutations in FGD4/FRABIN cause Charcot-Marie-Tooth type 4H (CMT4H)

By sequencing of the FGD4 coding sequence in a cohort of 101 patients affected by autosomal recessive demyelinating Charcot-Marie-Tooth disease (CMT), we have identified two novel missense mutations...
J. Peripher. Nerv. Syst. - issue: 2 - volume: 17 - pages: 141-146.


Baudot, C.  et al. 2012

Two novel missense mutations in FGD4/FRABIN cause Charcot-Marie-Tooth type 4H (CMT4H)

By sequencing of the FGD4 coding sequence in a cohort of 101 patients affected by autosomal recessive demyelinating Charcot-Marie-Tooth disease (CMT), we have identified two novel missense mutations...
J. Peripher. Nerv. Syst. - issue: 2 - volume: 17 - pages: 141-146.


Boehm, J.  et al. 2012

Mutation Spectrum in the Large GTPase Dynamin 2, and Genotype-Phenotype Correlation in Autosomal Dominant Centronuclear Myopathy

Centronuclear myopathy (CNM) is a genetically heterogeneous disorder associated with general skeletal muscle weakness, type I fiber predominance and atrophy, and abnormally centralized nuclei....
Hum. Mutat. - issue: 6 - volume: 33 - pages: 949-959.


Baudot, C.  et al. 2012

Two novel missense mutations in FGD4/FRABIN cause Charcot-Marie-Tooth type 4H (CMT4H)

By sequencing of the FGD4 coding sequence in a cohort of 101 patients affected by autosomal recessive demyelinating Charcot-Marie-Tooth disease (CMT), we have identified two novel missense mutations...
J. Peripher. Nerv. Syst. - issue: 2 - volume: 17 - pages: 141-146.


Chassaing, N.  et al. 2012

OTX2 mutations contribute to the otocephaly-dysgnathia complex

Background Otocephaly or dysgnathia complex is characterised by mandibular hypoplasia/agenesis, ear anomalies, microstomia, and microglossia; the molecular basis of this developmental defect is...
J. Med. Genet. - issue: 6 - volume: 49 - pages: 373-379.


Bertucci, F.  et al. 2012

8q24 Cancer Risk Allele Associated with Major Metastatic Risk in Inflammatory Breast Cancer

Background: Association studies have identified low penetrance alleles that participate to the risk of cancer development. The 8q24 chromosomal region contains several such loci involved in various...
PLoS One - issue: 5 - volume: 7 - pages: e37943.


Lostal, W.  et al. 2012

Lack of Correlation between Outcomes of Membrane Repair Assay and Correction of Dystrophic Changes in Experimental Therapeutic Strategy in Dysferlinopathy

Mutations in the dysferlin gene are the cause of Limb-girdle Muscular Dystrophy type 2B and Miyoshi Myopathy. The dysferlin protein has been implicated in sarcolemmal resealing, leading to the idea...
PLoS One - issue: 5 - volume: 7 - pages: e38036.


Lostal, W.  et al. 2012

Lack of Correlation between Outcomes of Membrane Repair Assay and Correction of Dystrophic Changes in Experimental Therapeutic Strategy in Dysferlinopathy

Mutations in the dysferlin gene are the cause of Limb-girdle Muscular Dystrophy type 2B and Miyoshi Myopathy. The dysferlin protein has been implicated in sarcolemmal resealing, leading to the idea...
PLoS One - issue: 5 - volume: 7 - pages: e38036.


Lostal, W.  et al. 2012

Lack of Correlation between Outcomes of Membrane Repair Assay and Correction of Dystrophic Changes in Experimental Therapeutic Strategy in Dysferlinopathy

Mutations in the dysferlin gene are the cause of Limb-girdle Muscular Dystrophy type 2B and Miyoshi Myopathy. The dysferlin protein has been implicated in sarcolemmal resealing, leading to the idea...
PLoS One - issue: 5 - volume: 7 - pages: e38036.