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Results: 1693  publications found.

Noury, J.  et al. 2018

Rigid spine syndrome associated with sensory-motor axonal neuropathy resembling Charcot-Marie-Tooth disease is characteristic of Bcl-2-associated athanogene-3 gene mutations even without cardiac involvement

INTRODUCTION: Bcl-2-associated athanogene-3 (BAG3) mutations have been described in rare cases of rapidly progressive myofibrillar myopathies. Symptoms begin in the first decade with axial involvement...
Muscle Nerve - issue: 2 - volume: 57 - pages: 330-334.

Zaffran, S.  et al. 2018

Ectopic expression of Hoxb1 induces cardiac and craniofacial malformations

Members of the large family of Hox transcription factors are encoded by genes whose tightly regulated expression in development and in space within different embryonic tissues confer positional...
Genesis - issue: 6-7 - volume: 56 - pages: e23221.

Etchevers, HC.  et al. 2018

Giant congenital melanocytic nevus with vascular malformation and epidermal cysts associated with a somatic activating mutation in BRAF

Giant congenital melanocytic nevi may be symptomatically isolated or syndromic. Associations with capillary malformations are exceptional, and development of epidermal cysts has not been described. A...
Pigment Cell Melanoma Res - issue: 3 - volume: 31 - pages: 437-441.

Kumar, NB.  et al. 2018

Green tea extract for prevention of prostate cancer progression in patients on active surveillance

Background: Active surveillance (AS) has evolved as a management strategy for men with low grade prostate cancer (PCa). However, these patients report anxiety, doubts about the possible progression of...
Oncotarget - issue: 102 - volume: 9 - pages: 37798-37806.

Sayed, ME.  et al. 2018

NOVA1 directs PTBP1 to hTERT pre-mRNA and promotes telomerase activity in cancer cells

Alternative splicing is dysregulated in cancer cells, driving the production of isoforms that allow tumor cells to survive and continuously proliferate. Part of the reactivation of telomerase involves...
Oncogene - issue: - volume: - pages: .

Molinari, N.  et al. 2018

Sample Pooling and Inflammation Linked to the False Selection of Biomarkers for Neurodegenerative Diseases in Top–Down Proteomics: A Pilot Study

- issue: - volume: 11 - pages: .

Tabassum, R.  et al. 2018

Complete genome analysis of a Siphoviridae phage TSK1 showing biofilm removal potential against Klebsiella pneumoniae

Multidrug-resistant Klebsiella pneumoniae is a nosocomial pathogen, produces septicemia, pneumonia and UTI. Excessive use of antibiotics contributes towards emergence of multidrug-resistance....
Sci Rep - issue: 1 - volume: 8 - pages: 17904.

Fultang, L.  et al. 2018

Macrophage-derived IL-1β and TNF-α regulate arginine metabolism in neuroblastoma

Neuroblastoma is the most common childhood solid tumor, yet the prognosis for high-risk disease remains poor. We demonstrate here that arginase 2 (ARG2) drives neuroblastoma cell proliferation via...
Cancer Res - issue: - volume: - pages: .

Guien, C.  et al. 2018

The French National Registry of patients with Facioscapulohumeral muscular dystrophy

BACKGROUND:Facioscapulohumeral muscular dystrophy is a rare inherited neuromuscular disease with an estimated prevalence of 1/20,000 and France therefore harbors about 3000 FSHD patients. With...
- issue: 1 - volume: 13 - pages: .

Albarel, F.  et al. 2018

Pre-surgical medical treatment, a major prognostic factor for long-term remission in acromegaly

PURPOSE: To determine whether pre-surgical medical treatment (PSMT) using long-acting Somatostatin analogues in acromegaly may improve long-term surgical outcome and to determine decision making...
Pituitary - issue: 6 - volume: 21 - pages: 615-623.

Frankel, D.  et al. 2018

Morphology quiz: Identification of the origin of metastatic cells in pleural effusion

Cytopathology - issue: 6 - volume: 29 - pages: 587-589.

Elahi, A.  et al. 2018

Bioconversion of hemicellulosic materials into ethanol by yeast, Pichia kudriavzevii 2-KLP1, isolated from industrial waste

In the present work, a yeast strain Pichia kudriavzevii was identified on the basis of 18S rDNA, showing maximum growth at 30°C and pH 7.0. Among all the complex polysaccharides used, wheat bran...
Rev. Argent. Microbiol. - issue: 4 - volume: 50 - pages: 417-425.

Amedro, P.  et al. 2018

Impact of a centre and home-based cardiac rehabilitation program on the quality of life of teenagers and young adults with congenital heart disease: The QUALI-REHAB study rationale, design and methods

- issue: - volume: - pages: .

Pujol, P.  et al. 2018

Guidelines for reporting secondary findings of genome sequencing in cancer genes: the SFMPP recommendations

In oncology, the expanding use of multi-gene panels to explore familial cancer predisposition and tumor genome analysis has led to increased secondary findings discoveries (SFs) and has given rise to...
- issue: 12 - volume: 26 - pages: 1732-1742.

De Bono, C.  et al. 2018

T-box genes and retinoic acid signaling regulate the segregation of arterial and venous pole progenitor cells in the murine second heart field

The arterial and venous poles of the mammalian heart are hotspots of congenital heart defects (CHD) such as those observed in 22q11.2 deletion (or DiGeorge) and Holt–Oram syndromes. These regions of...
Hum Mol Genet - issue: 21 - volume: 27 - pages: 3747-3760.

Lescroart, F.  et al. 2018

Hox and Tale transcription factors in heart development and disease

Hox genes are highly conserved transcription factors with critical functions during development, in particular for patterning the antero-posterior axis of the embryo. Their action is very often...
Int J Dev Biol - issue: - volume: 62 - pages: 837-846.

Hubert, F.  et al. 2018

FGF10 Signaling in Heart Development, Homeostasis, Disease and Repair

Essential muscular organ that provides the whole body with oxygen and nutrients, the heart is the first organ to function during embryonic development. Cardiovascular diseases, including acquired and...
Front Genet - issue: - volume: 9 - pages: 599.

Hubert, F.  et al. 2018

FGF10 Signaling in Heart Development, Homeostasis, Disease and Repair

Essential muscular organ that provides the whole body with oxygen and nutrients, the heart is the first organ to function during embryonic development. Cardiovascular diseases, including acquired and...
- issue: - volume: 9 - pages: .

Brue, T.  et al. 2018

Diabetes in patients with acromegaly treated with pegvisomant: observations from acrostudy

PURPOSE: To explore the effects of pegvisomant (PEGV) on glucose metabolism in patients with acromegaly within ACROSTUDY, an international, observational, prospective safety surveillance study....
Endocrine - issue: - volume: - pages: .

Abbas, S.  et al. 2018

Breast cancer risk associated with BRCA1/2 variants in the Pakistani population

BACKGROUND: Majority of the BRCA1 and BRCA2 mutations are associated with the risk of sporadic and familial breast cancer. Since these genes are significant in DNA repair mechanisms, we focused...
Breast Cancer - issue: - volume: - pages: .