MMG PUBLICATIONS

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Results: 1271  publications found.

Bosnakovski, D.  et al. 2017

Muscle pathology from stochastic low level DUX4 expression in an FSHD mouse model

Facioscapulohumeral muscular dystrophy is a slowly progressive but devastating myopathy caused by loss of repression of the transcription factor DUX4; however, DUX4 expression is very low, and protein...
Nat Commun - issue: 1 - volume: 8 - pages: 550.

Ovaert, C.  et al. 2017

FOXC1 haploinsufficiency due to 6p25 deletion in a patient with rapidly progressing aortic valve disease

6p25 deletion is a rare but well-known entity. The main clinical features include an abnormal facial appearance, developmental delay, and ocular anomalies. Cardiac anomalies are frequently seen but...
Am. J. Med. Genet. A - issue: 9 - volume: 173 - pages: 2489-2493.

Elkhatib, RA.  et al. 2017

Homozygous deletion of SUN5 in three men with decapitated spermatozoa

A recent study of 17 men with decapitated spermatozoa found that 8 carried two rare SUN5 alleles, and concluded that loss of SUN5 function causes the acephalic spermatozoa syndrome. Consistent with...
Hum. Mol. Genet. - issue: 16 - volume: 26 - pages: 3167-3171.

Simoncini, S.  et al. 2017

Biogenesis of Pro-senescent Microparticles by Endothelial Colony Forming Cells from Premature Neonates is driven by SIRT1-Dependent Epigenetic Regulation of MKK6

Senescent cells may exert detrimental effect on microenvironment through the secretion of soluble factors and the release of extracellular vesicles, such as microparticles, key actors in ageing and...
Sci Rep - issue: 1 - volume: 7 - pages: 8277.

Labbé, P.  et al. 2017

The alternatively spliced LRRFIP1 Isoform-1 is a key regulator of the Wnt/β-catenin transcription pathway

The GC-rich Binding Factor 2/Leucine Rich Repeat in the Flightless 1 Interaction Protein 1 gene (GCF2/LRRFIP1) is predicted to be alternatively spliced in five different isoforms. Although important...
Biochim. Biophys. Acta - issue: 7 - volume: 1864 - pages: 1142-1152.

Labbé, P.  et al. 2017

The alternatively spliced LRRFIP1 Isoform-1 is a key regulator of the Wnt/β-catenin transcription pathway

The GC-rich Binding Factor 2/Leucine Rich Repeat in the Flightless 1 Interaction Protein 1 gene (GCF2/LRRFIP1) is predicted to be alternatively spliced in five different isoforms. Although important...
Biochim. Biophys. Acta - issue: 7 - volume: 1864 - pages: 1142-1152.

Sánchez-Valle, J.  et al. 2017

A molecular hypothesis to explain direct and inverse co-morbidities between Alzheimer's Disease, Glioblastoma and Lung cancer

Epidemiological studies indicate that patients suffering from Alzheimer's disease have a lower risk of developing lung cancer, and suggest a higher risk of developing glioblastoma. Here we explore the...
Sci Rep - issue: 1 - volume: 7 - pages: 4474.

Sánchez-Valle, J.  et al. 2017

A molecular hypothesis to explain direct and inverse co-morbidities between Alzheimer's Disease, Glioblastoma and Lung cancer

Epidemiological studies indicate that patients suffering from Alzheimer's disease have a lower risk of developing lung cancer, and suggest a higher risk of developing glioblastoma. Here we explore the...
Sci Rep - issue: 1 - volume: 7 - pages: 4474.

Mohamed, A.  et al. 2017

Anti-proliferative and anti-secretory effects of everolimus on human pancreatic neuroendocrine tumors primary cultures: is there any benefit from combination with somatostatin analogs?

Therapeutic management of gastroenteropancreatic neuroendocrine tumors (GEP-NETs) is challenging. The mammalian target of rapamycin (mTOR) inhibitor everolimus recently obtained approval from the Food...
Oncotarget - issue: 25 - volume: 8 - pages: 41044-41063.

Elouej, S.  et al. 2017

Exome sequencing reveals a de novo POLD1 mutation causing phenotypic variability in mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MDPL)

Background. Mandibular hypoplasia, deafness, progeroid features; and lipodystrophy syndrome (MDPL) is an autosomal dominant systemic disorder characterized by prominent loss of subcutaneous fat, a...
Metab.-Clin. Exp. - issue: - volume: 71 - pages: 213-225.

Yentrapalli, R.  et al. 2017

Quantitative changes in the protein and miRNA cargo of plasma exosome-like vesicles after exposure to ionizing radiation

PURPOSE: Multiple cell types secrete exosome-like extracellular vesicles (ELVs) to the extracellular environment. Pathological conditions can produce characteristic changes to the vesicle cargo. We...
Int. J. Radiat. Biol. - issue: 6 - volume: 93 - pages: 569-580.

Elouej, S.  et al. 2017

Exome sequencing reveals a de novo POLD1 mutation causing phenotypic variability in mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MDPL)

BACKGROUND: Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MDPL) is an autosomal dominant systemic disorder characterized by prominent loss of subcutaneous fat, a...
Metab. Clin. Exp. - issue: - volume: 71 - pages: 213-225.

Elouej, S.  et al. 2017

Exome sequencing reveals a de novo POLD1 mutation causing phenotypic variability in mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MDPL)

BACKGROUND: Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MDPL) is an autosomal dominant systemic disorder characterized by prominent loss of subcutaneous fat, a...
Metab. Clin. Exp. - issue: - volume: 71 - pages: 213-225.

Castinetti, F.  et al. 2017

Gamma Knife radiosurgery for hypothalamic hamartoma preserves endocrine functions

Gamma Knife radiosurgery (GK) is an effective treatment for hypothalamic hamartoma. No precise data are available on the risk of endocrine side effects of this treatment. In this study, 34 patients...
Epilepsia - issue: - volume: 58 Suppl 2 - pages: 72-76.

Yentrapalli, R.  et al. 2017

Quantitative changes in the protein and miRNA cargo of plasma exosome-like vesicles after exposure to ionizing radiation

PURPOSE: Multiple cell types secrete exosome-like extracellular vesicles (ELVs) to the extracellular environment. Pathological conditions can produce characteristic changes to the vesicle cargo. We...
Int. J. Radiat. Biol. - issue: 6 - volume: 93 - pages: 569-580.

Brue, T.  et al. 2017

Lessons from monogenic causes of growth hormone deficiency

Through the multicentric international GENHYPOPIT network, 10 transcription factor genes involved in pituitary development have been screened in more than 1200 patients with constitutional...
Ann. Endocrinol. (Paris) - issue: 2 - volume: 78 - pages: 77-79.

Elouej, S.  et al. 2017

Exome sequencing reveals a de novo POLD1 mutation causing phenotypic variability in mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MDPL)

BACKGROUND: Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MDPL) is an autosomal dominant systemic disorder characterized by prominent loss of subcutaneous fat, a...
Metab. Clin. Exp. - issue: - volume: 71 - pages: 213-225.

Yentrapalli, R.  et al. 2017

Quantitative changes in the protein and miRNA cargo of plasma exosome-like vesicles after exposure to ionizing radiation

PURPOSE: Multiple cell types secrete exosome-like extracellular vesicles (ELVs) to the extracellular environment. Pathological conditions can produce characteristic changes to the vesicle cargo. We...
Int. J. Radiat. Biol. - issue: 6 - volume: 93 - pages: 569-580.

Kherraf, Z.  et al. 2017

SPINK2 deficiency causes infertility by inducing sperm defects in heterozygotes and azoospermia in homozygotes

Azoospermia, characterized by the absence of spermatozoa in the ejaculate, is a common cause of male infertility with a poorly characterized etiology. Exome sequencing analysis of two azoospermic...
EMBO Mol Med - issue: - volume: - pages: .

Kherraf, Z.  et al. 2017

SPINK2 deficiency causes infertility by inducing sperm defects in heterozygotes and azoospermia in homozygotes

Azoospermia, characterized by the absence of spermatozoa in the ejaculate, is a common cause of male infertility with a poorly characterized etiology. Exome sequencing analysis of two azoospermic...
EMBO Mol Med - issue: - volume: - pages: .