MMG PUBLICATIONS

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Results: 1708  publications found.

Boehm, J.  et al. 2013

Constitutive Activation of the Calcium Sensor STIM1 Causes Tubular-Aggregate Myopathy

Tubular aggregates are regular arrays of membrane tubules accumulating in muscle with age. They are found as secondary features in several muscle disorders, including alcohol- and drug-induced...
Am. J. Hum. Genet. - issue: 2 - volume: 92 - pages: 271-278.


Ahles, A.  et al. 2013

Phosphorylation-dependent receptor memory of the human beta(1)-adrenergic receptor

WOS:000209476400005
Naunyn-Schmiedebergs Arch. Pharmacol. - issue: - volume: 386 - pages: S3-S3.


Albarel, F.  et al. 2013

Outcome of multimodal therapy in operated acromegalic patients, a study in 115 patients

INTRODUCTION: Given the new therapeutic options in acromegaly, it seemed important to evaluate the outcome of operated acromegalic patients today. OBJECTIVE: To analyse the characteristics and short-...
Clin. Endocrinol. (Oxf) - issue: 2 - volume: 78 - pages: 263-270.


Reznik, Y.  et al. 2013

Management of hyperglycaemia in Cushing's disease: experts' proposals on the use of pasireotide

Cushing's disease causes considerable morbidity and mortality, including cardiovascular, metabolic, respiratory and psychiatric complications, bone demineralization and increased susceptibility to...
Diabetes Metab. - issue: 1 - volume: 39 - pages: 34-41.


Yajima, I.  et al. 2013

A Subpopulation of Smooth Muscle Cells, Derived from Melanocyte-Competent Precursors, Prevents Patent Ductus Arteriosus

Background: Patent ductus arteriosus is a life-threatening condition frequent in premature newborns but also present in some term infants. Current mouse models of this malformation generally lead to...
PLoS One - issue: 1 - volume: 8 - pages: e53183.


Fabre, A.  et al. 2013

Syndromic diarrhea/Tricho-hepato-enteric syndrome

Syndromic diarrhea/Tricho-hepato-enteric syndrome (SD/THE) is a rare and severe bowel disorder caused by mutation in SKIV2L or in TTC37, 2 genes encoding subunits of the putative human SKI complex....
Orphanet J Rare Dis - issue: - volume: 8 - pages: 5.


Fabre, A.  et al. 2013

Syndromic diarrhea/Tricho-hepato-enteric syndrome

Syndromic diarrhea/Tricho-hepato-enteric syndrome (SD/THE) is a rare and severe bowel disorder caused by mutation in SKIV2L or in TTC37, 2 genes encoding subunits of the putative human SKI complex....
Orphanet J Rare Dis - issue: - volume: 8 - pages: 5.


Roche, S.  et al. 2013

Comparative analysis of protein expression of three stem cell populations: models of cytokine delivery system in vivo

Several mechanisms mediate the regenerative and reparative capacity of stem cells, including cytokine secretion; therefore these cells can act as delivery systems of therapeutic molecules. Here we...
Int J Pharm - issue: 1 - volume: 440 - pages: 72-82.


Roche, S.  et al. 2013

Comparative analysis of protein expression of three stem cell populations: Models of cytokine delivery system in vivo

Several mechanisms mediate the regenerative and reparative capacity of stem cells, including cytokine secretion; therefore these cells can act as delivery systems of therapeutic molecules. Here we...
Int. J. Pharm. - issue: 1 - volume: 440 - pages: 72-82.


Rahner, N.  et al. 2013

Clinical utility gene card for: Lynch syndrome (MLH1, MSH2, MSH6, PMS2, EPCAM) - update 2012

WOS:000312492500001
Eur. J. Hum. Genet. - issue: 1 - volume: 21 - pages: .


Mégarbané, A.  et al. 2013

Homozygous stop mutation in the SNX10 gene in a consanguineous Iraqi boy with osteopetrosis and corpus callosum hypoplasia

Recently a mutation in the SNX10 gene that belongs to the sorting nexin family was identified as a cause of a new subset of human autosomal recessive osteopetrosis. Here, we identified a novel...
Eur J Med Genet - issue: 1 - volume: 56 - pages: 32-35.


Mégarbané, A.  et al. 2013

Homozygous stop mutation in the SNX10 gene in a consanguineous Iraqi boy with osteopetrosis and corpus callosum hypoplasia

Recently a mutation in the SNX10 gene that belongs to the sorting nexin family was identified as a cause of a new subset of human autosomal recessive osteopetrosis. Here, we identified a novel...
Eur J Med Genet - issue: 1 - volume: 56 - pages: 32-35.


Canron, M.  et al. 2012

Age-dependent α-synuclein aggregation in the Microcebus murinus lemur primate

Since age-dependent deposition of Aβ-amyloid has been reported in the Microcebusmurinus, we posited that this animal could as well be a model of age-related synucleinopathy. We characterized the...
Sci Rep - issue: - volume: 2 - pages: 910.


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.


Perrin, S.  et al. 2012

HIV protease inhibitors do not cause the accumulation of prelamin A in PBMCs from patients receiving first line therapy: the ANRS EP45 "aging" study

BACKGROUND: The ANRS EP45 "Aging" study investigates the cellular mechanisms involved in the accelerated aging of HIV-1 infected and treated patients. The present report focuses on lamin A processing,...
PLoS ONE - issue: 12 - volume: 7 - pages: e53035.


Herbaux, C.  et al. 2012

A NEW ATRX MUTATION IN A PATIENT WITH ACQUIRED alpha-THALASSEMIA MYELODYSPLASTIC SYNDROME

Acquired alpha-thalassemia (alpha-thal) myelodysplastic syndrome (ATMDS) is a rare acquired syndrome characterized by a somatic point mutation in the ATRX gene in patients with chronic myeloid...
Hemoglobin - issue: 6 - volume: 36 - pages: 581-585.


Perrin, S.  et al. 2012

HIV protease inhibitors do not cause the accumulation of prelamin A in PBMCs from patients receiving first line therapy: the ANRS EP45 "aging" study

BACKGROUND: The ANRS EP45 "Aging" study investigates the cellular mechanisms involved in the accelerated aging of HIV-1 infected and treated patients. The present report focuses on lamin A processing,...
PLoS ONE - issue: 12 - volume: 7 - pages: e53035.


Perrin, S.  et al. 2012

HIV-1 infection and first line ART induced differential responses in mitochondria from blood lymphocytes and monocytes: the ANRS EP45 "Aging" study

BACKGROUND: The ANRS EP45 "Aging" study investigates the cellular mechanisms involved in the accelerated aging of HIV-1 infected and treated patients. The data reported focus on mitochondria,...
PLoS ONE - issue: 7 - volume: 7 - pages: e41129.


Perrin, S.  et al. 2012

HIV-1 infection and first line ART induced differential responses in mitochondria from blood lymphocytes and monocytes: the ANRS EP45 "Aging" study

BACKGROUND: The ANRS EP45 "Aging" study investigates the cellular mechanisms involved in the accelerated aging of HIV-1 infected and treated patients. The data reported focus on mitochondria,...
PLoS ONE - issue: 7 - volume: 7 - pages: e41129.


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.