PUBLICATIONS MMG

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Résultats : 2278  publications trouvées.

van Eif, VW. W.  et al. 2019

Transcriptome analysis of mouse and human sinoatrial node cells reveals a conserved genetic program

The rate of contraction of the heart relies on proper development and function of the sinoatrial node, which consists of a small heterogeneous cell population, including Tbx3(+) pacemaker cells. Here,...
- issue: 8 - volume: 146 - pages: .


Sayed, ME.  et al. 2019

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

- issue: 16 - volume: 38 - pages: 2937-2952.


Sayed, ME.  et al. 2019

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...
- issue: 16 - volume: 38 - pages: 2937-2952.


van Eif, V.  et al. 2019

Transcriptome analysis of mouse and human sinoatrial node cells reveals a conserved genetic program

The rate of contraction of the heart relies on proper development and function of the sinoatrial node, which consists of a small heterogeneous cell population, including Tbx3(+) pacemaker cells. Here,...
Development - issue: - volume: 146 (8) - pages: dev173161.


Dion, C.  et al. 2019

SMCHD1 is involved in de novo methylation of the DUX4-encoding D4Z4 macrosatellite

- issue: 6 - volume: 47 - pages: 2822-2839.


Fores-Martos, J.  et al. 2019

Transcriptomic metaanalyses of autistic brains reveals shared gene expression and biological pathway abnormalities with cancer

- issue: - volume: 10 - pages: .


Dion, C.  et al. 2019

SMCHD1 is involved in de novo methylation of the DUX4-encoding D4Z4 macrosatellite

The DNA methylation epigenetic signature is a key determinant during development. Rules governing its establishment and maintenance remain elusive especially at repetitive sequences, which account for...
- issue: 6 - volume: 47 - pages: 2822-2839.


Fores-Martos, J.  et al. 2019

Transcriptomic metaanalyses of autistic brains reveals shared gene expression and biological pathway abnormalities with cancer

Background: Epidemiological and clinical evidence points to cancer as a comorbidity in people with autism spectrum disorders (ASD). A significant overlap of genes and biological processes between both...
- issue: - volume: 10 - pages: .


Dharmaraj, T.  et al. 2019

Rare BANF1 Alleles and Relatively Frequent EMD Alleles Including `Healthy Lipid' Emerin p.D149H in the ExAC Cohort

- issue: - volume: 7 - pages: .


Dharmaraj, T.  et al. 2019

Rare BANF1 Alleles and Relatively Frequent EMD Alleles Including `Healthy Lipid' Emerin p.D149H in the ExAC Cohort

Emerin (EMD) and barrier to autointegration factor 1 (BANF1) each bind A-type lamins (LMNA) as fundamental components of nuclear lamina structure. Mutations in LMNA, EMD and BANF1 are genetically...
- issue: - volume: 7 - pages: .


Albarel, F.  et al. 2019

Daily life, needs and expectations of patients with acromegaly in France: An on-line survey

- issue: 2 - volume: 80 - pages: 110-116.


Graillon, T.  et al. 2019

Functioning gonadotroph adenoma with severe ovarian hyperstimulation syndrome: A new emergency in pituitary adenoma surgery? Surgical considerations and literature review

- issue: 2 - volume: 80 - pages: 122-127.


Dominov, JA.  et al. 2019

Correction of pseudoexon splicing caused by a novel intronic dysferlin mutation

Objective: Dysferlin is a large transmembrane protein that functions in critical processes of membrane repair and vesicle fusion. Dysferlin-deficiency due to mutations in the dysferlin gene leads to...
Ann Clin Transl Neurol - issue: 4 - volume: 6 - pages: 642-654.


van Eif, VW. W.  et al. 2019

Transcriptome analysis of mouse and human sinoatrial node cells reveals a conserved genetic program

- issue: 8 - volume: 146 - pages: .


Dominov, JA.  et al. 2019

Correction of pseudoexon splicing caused by a novel intronic dysferlin mutation

- issue: 4 - volume: 6 - pages: 642-654.


Mignot, C.  et al. 2019

IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

- issue: 4 - volume: 21 - pages: 837-849.


Vogels, R.  et al. 2019

Prognostic significance of NAB2-STAT6 fusion variants and TERT promotor mutations in solitary fibrous tumors/hemangiopericytomas of the CNS: not (yet) clear

- issue: 4 - volume: 137 - pages: 679-682.


El-Bazzal, L.  et al. 2019

A novel EXT2 mutation in a consanguineous family with severe developmental delay, microcephaly, seizures, feeding difficulties, and osteopenia extends the phenotypic spectrum of autosomal recessive EXT2-related syndrome (AREXT2)

- issue: 4 - volume: 62 - pages: 259-264.


Castinetti, F.  et al. 2019

Thyroiditis and immune check point inhibitors: the post-marketing experience using the French National Pharmacovigilance database

- issue: 2 - volume: 33 - pages: 239-240.


Costinetti, F.  et al. 2019

2018 Consensus of the French Society of Endocrinology: endocrine toxicities of cancer immunotherapies

- issue: 2 - volume: 23 - pages: 31-36.