MMG PUBLICATIONS

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Results: 1269  publications found.

Macagno, N.  et al. 2018

Reduced H3K27me3 Expression is Common in Nodular Melanomas of Childhood Associated With Congenital Melanocytic Nevi But Not in Proliferative Nodules

Am J Surg Pathol - issue: 5 - volume: 42 - pages: 701-704.

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.

Frankel, D.  et al. 2018

MicroRNAs in hereditary and sporadic premature aging syndromes and other laminopathies

Hereditary and sporadic laminopathies are caused by mutations in genes encoding lamins, their partners, or the metalloprotease ZMPSTE24/FACE1. Depending on the clinical phenotype, they are classified...
Aging Cell - issue: - volume: - pages: e12766.

Métais, A.  et al. 2018

Asb2α-Filamin A Axis Is Essential for Actin Cytoskeleton Remodeling During Heart Development

RATIONALE: Heart development involves differentiation of cardiac progenitors and assembly of the contractile sarcomere apparatus of cardiomyocytes. However, little is known about the mechanisms that...
Circ Res. - issue: 6 - volume: 122 - pages: e34-e48.

Thomas, A.  et al. 2018

Widespread dynamic and pleiotropic expression of the melanocortin-1-receptor (MC1R) system is conserved across chick, mouse and human embryonic development

BACKGROUND: MC1R, a G-protein coupled receptor with high affinity for alpha-melanocyte stimulating hormone (αMSH), modulates pigment production in melanocytes from many species and is associated with...
Birth Defects Res - issue: 5 - volume: 110 - pages: 443-455.

Prados, B.  et al. 2018

Myocardial Bmp2 gain causes ectopic EMT and promotes cardiomyocyte proliferation and immaturity

During mammalian heart development, restricted myocardial Bmp2 expression is a key patterning signal for atrioventricular canal specification and the epithelial-mesenchyme transition that gives rise...
Cell Death Dis - issue: 3 - volume: 9 - pages: 399.

Esteve, C.  et al. 2018

Loss-of-Function Mutations in UNC45A Cause a Syndrome Associating Cholestasis, Diarrhea, Impaired Hearing, and Bone Fragility

Despite the rapid discovery of genes for rare genetic disorders, we continue to encounter individuals presenting with syndromic manifestations. Here, we have studied four affected people in three...
Am J Hum Genet - issue: 3 - volume: 102 - pages: 364-374.

Moore-Morris, T.  et al. 2018

Infarct Fibroblasts Do Not Derive From Bone Marrow Lineages

RATIONALE: Myocardial infarction is a major cause of adult mortality worldwide. The origin(s) of cardiac fibroblasts that constitute the postinfarct scar remain controversial, in particular the...
Circ Res - issue: 4 - volume: 122 - pages: 583-590.

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 progres-sive myofibrillar myopathies. Symptoms begin in the first decade with axial...
Muscle Nerve - issue: 2 - volume: 57 - pages: 330-334.

Harhouri, K.  et al. 2018

An overview of treatment strategies for Hutchinson-Gilford Progeria syndrome

Hutchinson-Gilford progeria syndrome (HGPS) is a sporadic, autosomal dominant disorder characterized by premature and accelerated aging symptoms leading to death at the mean age of 14.6 years usually...
Nucleus - issue: 1 - volume: 9 - pages: 246-257.

Harhouri, K.  et al. 2017

MG132-induced progerin clearance is mediated by autophagy activation and splicing regulation

Hutchinson-Gilford progeria syndrome (HGPS) is a lethal premature and accelerated aging disease caused by a de novo point mutation in LMNA encoding A-type lamins. Progerin, a truncated and toxic...
EMBO Mol Med - issue: 9 - volume: 9 - pages: 1294-1313.

Nguyen, K.  et al. 2017

Molecular combing reveals complex 4q35 rearrangements in Facioscapulohumeral dystrophy

Facioscapulohumeral dystrophy (FSHD), one of the most common hereditary neuromuscular disorders, is associated with a complex combination of genetic variations at the subtelomeric 4q35 locus. As...
Hum. Mutat. - issue: 10 - volume: 38 - pages: 1432-1441.

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.

Elkhatib, RA.  et al. 2017

LEM-domain proteins are lost during human spermiogenesis but BAF and BAF-L persist

During spermiogenesis the spermatid nucleus is elongated, and dramatically reduced in size with protamines replacing histones to produce a highly compacted chromatin. After fertilisation, this process...
Reproduction - issue: 4 - volume: 154 - pages: 387-401.

Kaspi, E.  et al. 2017

Low lamin A expression in lung adenocarcinoma cells from pleural effusions is a pejorative factor associated with high number of metastatic sites and poor Performance status

The type V intermediate filament lamins are the principal components of the nuclear matrix, including the nuclear lamina. Lamins are divided into A-type and B-type, which are encoded by three genes,...
PLoS ONE - issue: 8 - volume: 12 - pages: e0183136.

Harhouri, K.  et al. 2017

MG132-induced progerin clearance is mediated by autophagy activation and splicing regulation

Hutchinson-Gilford progeria syndrome (HGPS) is a lethal premature and accelerated aging disease caused by a de novo point mutation in LMNA encoding A-type lamins. Progerin, a truncated and toxic...
EMBO Mol Med - issue: 9 - volume: 9 - pages: 1294-1313.

Valassi, E.  et al. 2017

Diagnostic tests for Cushing's syndrome differ from published guidelines: data from ERCUSYN

OBJECTIVE: To evaluate which tests are performed to diagnose hypercortisolism in patients included in the European Registry on Cushing's syndrome (ERCUSYN), and to examine if their use differs from...
Eur. J. Endocrinol. - issue: 5 - volume: 176 - pages: 613-624.

Gonzalez, D.  et al. 2017

ALS skeletal muscle shows enhanced TGF-β signaling, fibrosis and induction of fibro/adipogenic progenitor markers

Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease in which upper and lower motoneurons degenerate leading to muscle wasting, paralysis and eventually death from respiratory...
PLoS ONE - issue: 5 - volume: 12 - pages: e0177649.

Etienne-Grimaldi, M.  et al. 2017

New advances in DPYD genotype and risk of severe toxicity under capecitabine

BACKGROUND: Deficiency in dihydropyrimidine dehydrogenase (DPD) enzyme is the main cause of severe and lethal fluoropyrimidine-related toxicity. Various approaches have been developed for...
PLoS ONE - issue: 5 - volume: 12 - pages: e0175998.

Wang, W.  et al. 2017

A Rasch Analysis of the Charcot-Marie-Tooth Neuropathy Score (CMTNS) in a Cohort of Charcot-Marie-Tooth Type 1A Patients

The Charcot-Marie-Tooth Neuropathy Score (CMTNS) was developed as a main efficacy endpoint for application in clinical trials of Charcot-Marie-Tooth disease type 1A (CMT1A). However, the sensitivity...
PLoS ONE - issue: 1 - volume: 12 - pages: e0169878.