MMG PUBLICATIONS

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Results: 3193  publications found.

Rana, MS.  et al. 2014

Tbx1 coordinates addition of posterior second heart field progenitor cells to the arterial and venous poles of the heart

RATIONALE: Cardiac progenitor cells from the second heart field (SHF) contribute to rapid growth of the embryonic heart, giving rise to right ventricular and outflow tract (OFT) myocardium at the...
Circ. Res. - issue: 9 - volume: 115 - pages: 790-799.

Doyen, J.  et al. 2014

High-resolution analysis of DNA copy number alterations in rectal cancer Correlation with metastasis, survival, and mRNA expression

Background and purpose. This study aimed to determine the candidate genes and chromosomal imbalances capable of predicting occurrences of metastasis in patients with rectal cancer. Patients and...
Strahlenther. Onkol. - issue: 11 - volume: 190 - pages: 1028-1036.

Prados, B.  et al. 2014

Bmp2 patterns prospective valve tissue and regulates EMT and mesenchyme proliferation and morphogenesis

WOS:000341434600199
Transgenic Res. - issue: 5 - volume: 23 - pages: 901-901.

Bushby, K.  et al. 2014

Ataluren Treatment of Patients with Nonsense Mutation Dystrophinopathy

Introduction: Dystrophinopathy is a rare, severe muscle disorder, and nonsense mutations are found in 13% of cases. Ataluren was developed to enable ribosomal readthrough of premature stop codons in...
Muscle Nerve - issue: 4 - volume: 50 - pages: 477-487.

Mohamed, A.  et al. 2014

Pasireotide and octreotide antiproliferative effects and sst2 trafficking in human pancreatic neuroendocrine tumor cultures

Gastroenteropancreatic neuroendocrine tumors (GEP-NETs) raise difficult therapeutic problems despite the emergence of targeted therapies. Somatostatin analogs (SSA) remain pivotal therapeutic drugs....
Endocr. Relat. Cancer - issue: 5 - volume: 21 - pages: 691-704.

Puppo, F.  et al. 2014

Molecular defects in FAT1 are associated to facioscapulohumeral dystrophy (FSHD)

WOS:000342870200023
Neuromusc. Disord. - issue: 9-10 - volume: 24 - pages: 797-798.

Puppo, F.  et al. 2014

Molecular defects in FAT1 are associated to facioscapulohumeral dystrophy (FSHD)

WOS:000342870200023
Neuromusc. Disord. - issue: 9-10 - volume: 24 - pages: 797-798.

Puppo, F.  et al. 2014

Molecular defects in FAT1 are associated to facioscapulohumeral dystrophy (FSHD)

Neuromusc. Disord. - issue: 9-10 - volume: 24 - pages: 797-798.

Dandapat, A.  et al. 2014

Dominant lethal pathologies in male mice engineered to contain an X-linked DUX4 transgene

Facioscapulohumeral muscular dystrophy (FSHD) is an enigmatic disease associated with epigenetic alterations in the subtelomeric heterochromatin of the D4Z4 macrosatellite repeat. Each repeat unit...
Cell Rep - issue: 5 - volume: 8 - pages: 1484-1496.

Moore-Morris, T.  et al. 2014

Targeting cardiac fibroblasts: The pressure is on

WOS:000348325300004
Cell Cycle - issue: 17 - volume: 13 - pages: 2647-2648.

Jaka, O.  et al. 2014

Entire CAPN3 gene deletion in a patient with limb-girdle muscular dystrophy type 2A

Limb-girdle muscular dystrophy type 2A (LGMD2A) due to mutations in the CAPN3 gene is one of the most common of autosomal recessive limb-girdle muscular dystrophies. We describe a patient who had a...
Muscle Nerve - issue: 3 - volume: 50 - pages: 448-453.

Jaka, O.  et al. 2014

Entire CAPN3 gene deletion in a patient with limb-girdle muscular dystrophy type 2A

Limb-girdle muscular dystrophy type 2A (LGMD2A) due to mutations in the CAPN3 gene is one of the most common of autosomal recessive limb-girdle muscular dystrophies. We describe a patient who had a...
Muscle Nerve - issue: 3 - volume: 50 - pages: 448-453.

Jaka, O.  et al. 2014

Entire CAPN3 gene deletion in a patient with limb-girdle muscular dystrophy type 2A

Limb-girdle muscular dystrophy type 2A (LGMD2A) due to mutations in the CAPN3 gene is one of the most common of autosomal recessive limb-girdle muscular dystrophies. We describe a patient who had a...
Muscle Nerve - issue: 3 - volume: 50 - pages: 448-453.

Popovici, C.  et al. 2014

Whole ARX gene duplication is compatible with normal intellectual development

We report here on four males from three families carrying de novo or inherited small Xp22.13 duplications including the ARX gene detected by chromosomal microarray analysis (CMA). Two of these males...
Am. J. Med. Genet. A - issue: 9 - volume: 164A - pages: 2324-2327.

Bertrand, N.  et al. 2014

LRRC1 and SCRIB, two polarity genes from the LAP family, genetically interact during embryogenesis

WOS:000359666802217
FEBS J. - issue: - volume: 281 - pages: 329-329.

Eckard, SC.  et al. 2014

The SKIV2L RNA exosome limits activation of the RIG-I-like receptors

Sensors of the innate immune system that detect intracellular nucleic acids must be regulated to prevent inappropriate activation by endogenous DNA and RNA. The exonuclease Trex1 regulates the...
Nat. Immunol. - issue: 9 - volume: 15 - pages: 839-845.

Poulton, CJ.  et al. 2014

Severe presentation of WDR62 mutation: is there a role for modifying genetic factors?

Mutations in WDR62 are associated with primary microcephaly; however, they have been reported with wide phenotypic variability. We report on six individuals with novel WDR62 mutations who illustrate...
Am. J. Med. Genet. A - issue: 9 - volume: 164A - pages: 2161-2171.

Pivonello, R.  et al. 2014

Pasireotide treatment significantly improves clinical signs and symptoms in patients with Cushing's disease: results from a Phase III study

OBJECTIVE: Signs and symptoms of Cushing's disease are associated with high burden of illness. In this analysis, we evaluated the effect of pasireotide treatment on signs and symptoms in patients with...
Clin. Endocrinol. (Oxf) - issue: 3 - volume: 81 - pages: 408-417.

Popovici, C.  et al. 2014

Whole ARX gene duplication is compatible with normal intellectual development

We report here on four males from three families carrying de novo or inherited small Xp22.13 duplications including the ARX gene detected by chromosomal microarray analysis (CMA). Two of these males...
Am. J. Med. Genet. A - issue: 9 - volume: 164A - pages: 2324-2327.

Jaka, O.  et al. 2014

Entire CAPN3 gene deletion in a patient with limb-girdle muscular dystrophy type 2A

Limb-girdle muscular dystrophy type 2A (LGMD2A) due to mutations in the CAPN3 gene is one of the most common of autosomal recessive limb-girdle muscular dystrophies. We describe a patient who had a...
Muscle Nerve - issue: 3 - volume: 50 - pages: 448-453.