MMG PUBLICATIONS

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Results: 3220  publications found.

Defour, A.  et al. 2014

Dysferlin regulates cell membrane repair by facilitating injury-triggered acid sphingomyelinase secretion

Dysferlin deficiency compromises the repair of injured muscle, but the underlying cellular mechanism remains elusive. To study this phenomenon, we have developed mouse and human myoblast models for...
Cell Death Dis. - issue: - volume: 5 - pages: e1306.

Jung, L.  et al. 2014

ONSL and OSKM cocktails act synergistically in reprogramming human somatic cells into induced pluripotent stem cells

The advent of human induced pluripotent stem cells (hiPSC) is revolutionizing many research fields including cell-replacement therapy, drug screening, physiopathology of specific diseases and more...
Mol. Hum. Reprod. - issue: 6 - volume: 20 - pages: 538-549.

Etienne-Grimaldi, M.  et al. 2014

Molecular patterns in deficient mismatch repair colorectal tumours: results from a French prospective multicentric biological and genetic study

Background: To test the prognostic value of tumour protein and genetic markers in colorectal cancer (CRC) and examine whether deficient mismatch repair (dMMR) tumours had a distinct profile relative...
Br. J. Cancer - issue: 11 - volume: 110 - pages: 2728-2737.

Sleigh, JN.  et al. 2014

Neuromuscular junction maturation defects precede impaired lower motor neuron connectivity in Charcot-Marie-Tooth type 2D mice

Dominant mutations in GARS, encoding the essential enzyme glycyl-tRNA synthetase (GlyRS), result in a form of Charcot-Marie-Tooth disease, type 2D (CMT2D), predominantly characterized by lower motor...
Hum. Mol. Genet. - issue: 10 - volume: 23 - pages: 2639-2650.

Grandval, P.  et al. 2014

The UMD-APC database, a model of nation-wide knowledge base: update with data from 3,581 variations

Familial adenomatous polyposis (FAP) is a rare autosomal-inherited disease that highly predisposes to colorectal cancer, characterized by a diffuse duodenal and colorectal polyposis associated with...
Hum. Mutat. - issue: 5 - volume: 35 - pages: 532-536.

Mehawej, C.  et al. 2014

The impairment of MAGMAS function in human is responsible for a severe skeletal dysplasia

Impairment of the tightly regulated ossification process leads to a wide range of skeletal dysplasias and deciphering their molecular bases has contributed to the understanding of this complex...
PLoS Genet. - issue: 5 - volume: 10 - pages: e1004311.

Mehawej, C.  et al. 2014

The impairment of MAGMAS function in human is responsible for a severe skeletal dysplasia

Impairment of the tightly regulated ossification process leads to a wide range of skeletal dysplasias and deciphering their molecular bases has contributed to the understanding of this complex...
PLoS Genet. - issue: 5 - volume: 10 - pages: e1004311.

Cau, P.  et al. 2014

Nuclear matrix, nuclear envelope and premature aging syndromes in a translational research perspective

Lamin A-related progeroid syndromes are genetically determined, extremely rare and severe. In the past ten years, our knowledge and perspectives for these diseases has widely progressed, through the...
Semin. Cell Dev. Biol. - issue: - volume: 29 - pages: 125-147.

Cau, P.  et al. 2014

Nuclear matrix, nuclear envelope and premature aging syndromes in a translational research perspective

Lamin A-related progeroid syndromes are genetically determined, extremely rare and severe. In the past ten years, our knowledge and perspectives for these diseases has widely progressed, through the...
Semin. Cell Dev. Biol. - issue: - volume: 29 - pages: 125-147.

Philippon, M.  et al. 2014

Bilateral neck exploration in patients with primary hyperparathyroidism and discordant imaging results: a single-centre study

INTRODUCTION: Focused parathyroidectomy is the treatment of choice for patients with concordant positive imaging. Bilateral cervical exploration is performed for cases with discordant imaging, yet...
Eur. J. Endocrinol. - issue: 5 - volume: 170 - pages: 719-725.

Castinetti, F.  et al. 2014

Outcomes of adrenal-sparing surgery or total adrenalectomy in phaeochromocytoma associated with multiple endocrine neoplasia type 2: an international retrospective population-based study

BACKGROUND: The prevention of medullary thyroid cancer in patients with multiple endocrine neoplasia type 2 syndrome has demonstrated the ability of molecular diagnosis and prophylactic surgery to...
Lancet Oncol. - issue: 6 - volume: 15 - pages: 648-655.

Castinetti, F.  et al. 2014

Ketoconazole in Cushing's disease: is it worth a try?

BACKGROUND: The use of ketoconazole has been recently questioned after warnings from the European Medicine Agencies and the Food and Drug Administration due to potential hepatotoxicity. However,...
J. Clin. Endocrinol. Metab. - issue: 5 - volume: 99 - pages: 1623-1630.

Mehawej, C.  et al. 2014

The Impairment of MAGMAS Function in Human Is Responsible for a Severe Skeletal Dysplasia

Impairment of the tightly regulated ossification process leads to a wide range of skeletal dysplasias and deciphering their molecular bases has contributed to the understanding of this complex...
PLoS Genet. - issue: 5 - volume: 10 - pages: e1004311.

NIGRO, V.  et al. 2014

Genetic basis of limb-girdle muscular dystrophies: the 2014 update

Limb-girdle muscular dystrophies (LGMD) are a highly heterogeneous group of muscle disorders, which first affect the voluntary muscles of the hip and shoulder areas. The definition is highly...
Acta Myol - issue: 1 - volume: 33 - pages: 1-12.

Mehawej, C.  et al. 2014

The impairment of MAGMAS function in human is responsible for a severe skeletal dysplasia

Impairment of the tightly regulated ossification process leads to a wide range of skeletal dysplasias and deciphering their molecular bases has contributed to the understanding of this complex...
PLoS Genet. - issue: 5 - volume: 10 - pages: e1004311.

Cau, P.  et al. 2014

Nuclear matrix, nuclear envelope and premature aging syndromes in a translational research perspective

Lamin A-related progeroid syndromes are genetically determined, extremely rare and severe. In the past ten years, our knowledge and perspectives for these diseases has widely progressed, through the...
Semin. Cell Dev. Biol. - issue: - volume: 29 - pages: 125-147.

Mehawej, C.  et al. 2014

The Impairment of MAGMAS Function in Human Is Responsible for a Severe Skeletal Dysplasia

Impairment of the tightly regulated ossification process leads to a wide range of skeletal dysplasias and deciphering their molecular bases has contributed to the understanding of this complex...
PLoS Genet. - issue: 5 - volume: 10 - pages: e1004311.

Mehawej, C.  et al. 2014

The impairment of MAGMAS function in human is responsible for a severe skeletal dysplasia

Impairment of the tightly regulated ossification process leads to a wide range of skeletal dysplasias and deciphering their molecular bases has contributed to the understanding of this complex...
PLoS Genet. - issue: 5 - volume: 10 - pages: e1004311.

Hiriart, E.  et al. 2014

Cell labeling and injection in developing embryonic mouse hearts

Testing the fate of embryonic or pluripotent stem cell-derivatives in in vitro protocols has led to controversial outcomes that do not necessarily reflect their in vivo potential. Preferably, these...
J Vis Exp - issue: 86 - volume: - pages: .

Hiriart, E.  et al. 2014

Cell labeling and injection in developing embryonic mouse hearts

Testing the fate of embryonic or pluripotent stem cell-derivatives in in vitro protocols has led to controversial outcomes that do not necessarily reflect their in vivo potential. Preferably, these...
J Vis Exp - issue: 86 - volume: - pages: .