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Results: 2318  publications found.

Ballouhey, O.  et al. 2020

[CRISPR-Cas9 for muscle dystrophies]

Muscular dystrophies are a group of rare muscular disorders characterized by weakness and progressive degeneration of the muscle. They are diseases of genetic origin caused by the mutation of one or...
Med Sci (Paris) - issue: 4 - volume: 36 - pages: 358-366.

Charfeddine, C.  et al. 2020

Identification of a CDH12 potential candidate genetic variant for an autosomal dominant form of transgrediens and progrediens palmoplantar keratoderma in a Tunisian family

Molecular diagnosis of rare inherited palmoplantar keratoderma (PPK) is still challenging. We investigated at the clinical and genetic level a consanguineous Tunisian family presenting an autosomal...
J. Hum. Genet. - issue: 4 - volume: 65 - pages: 397-410.

Robin, JD.  et al. 2020

Mitochondrial function in skeletal myofibers is controlled by a TRF2-SIRT3 axis over lifetime.

Telomere shortening follows a developmentally regulated process that leads to replicative senescence of dividing cells. However, whether telomere changes are involved in postmitotic cell function and...
Aging Cell - issue: 3 - volume: 19 - pages: e13097.

Salort-Campana, E.  et al. 2020

Type 1 FSHD with 6-10 Repeated Units: Factors Underlying Severity in Index Cases and Disease Penetrance in Their Relatives Attention.

Molecular defects in type 1 facioscapulohumeral muscular dystrophy (FSHD) are caused by a heterozygous contraction of the D4Z4 repeat array from 1 to 10 repeat units (RUs) on 4q35. This study compared...
int J Mol Sci - issue: 6 - volume: 21 - pages: 2221.

Mortreux, J.  et al. 2020

Identification of novel pathogenic copy number variations in Charcot-Marie-Tooth disease

Charcot-Marie-Tooth disease (CMT) is a hereditary sensory-motor neuropathy characterized by a strong clinical and genetic heterogeneity. Over the past few years, with the occurrence of whole-exome...
J. Hum. Genet. - issue: 3 - volume: 65 - pages: 313-323.

Salsi, V.  et al. 2020

Does DNA Methylation Matter in FSHD?

Facioscapulohumeral muscular dystrophy (FSHD) has been associated with the genetic and epigenetic molecular features of the CpG-rich D4Z4 repeat tandem array at 4q35. Reduced DNA methylation of D4Z4...
Genes - issue: 3 - volume: 11 - pages: 258.

Ehinger, Y.  et al. 2020

Huntingtin phosphorylation governs BDNF homeostasis and improves the phenotype of Mecp2 knockout mice

Mutations in the X-linked MECP2 gene are responsible for Rett syndrome (RTT), a severe neurological disorder for which there is no treatment. Several studies have linked the loss of MeCP2 function to...
EMBO Mol Med - issue: 2 - volume: 12 - pages: e10889.

Wünnemann, F.  et al. 2020

Loss of ADAMTS19 causes progressive non-syndromic heart valve disease.

Valvular heart disease is observed in approximately 2% of the general population1. Although the initial observation is often localized (for example, to the aortic or mitral valve), disease...
Nat Genet - issue: 1 - volume: 52 - pages: 40-47.

Jaouadi, H.  et al. 2020

Multiallelic rare variants support an oligogenic origin of sudden cardiac death in the young

Unexplained sudden death in the young is cardiovascular in most cases. Structural and conduction defects in cardiac-related genes can conspire to underlie sudden cardiac death. Here we report a...
Herz - issue: - volume: - pages: .

Bensimon-Brito A., .  et al. 2020

TGF-β Signaling Promotes Tissue Formation during Cardiac Valve Regeneration in Adult Zebrafish

Cardiac valve disease can lead to severe cardiac dysfunction and is thus a frequent cause of morbidity and mortality. Its main treatment is valve replacement, which is currently greatly limited by the...
Dev Cell - issue: 52 - volume: 1 - pages: 9-20.e7.

Wünnemann, F.  et al. 2020

Loss of ADAMTS19 causes progressive non-syndromic heart valve disease

Valvular heart disease is observed in approximately 2% of the general population1. Although the initial observation is often localized (for example, to the aortic or mitral valve), disease...
Nat Genet - issue: 1 - volume: 52 - pages: 40-47.

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Kobayashi T - issue: Haginoya K - volume: Shi RM - pages: De Palma L.

Jebeniani, I.  et al. 2019

Improved Protocol for Cardiac Differentiation and Maturation of Pluripotent Stem Cells

Pluripotent stem cells feature the capacity to differentiate into any somatic cell types including cardiomyocytes. We report a cost-effective and simple protocol for the differentiation of specific...
Methods Mol Biol - issue: - volume: 1994 - pages: 71-77.

Piché, J.  et al. 2019

Molecular Signature of CAID Syndrome: Noncanonical Roles of SGO1 in Regulation of TGF-β Signaling and Epigenomics

BACKGROUND & AIMS: A generalized human pacemaking syndrome, chronic atrial and intestinal dysrhythmia (CAID) (OMIM 616201), is caused by a homozygous SGO1 mutation (K23E), leading to chronic...
Cell Mol Gastroenterol Hepatol - issue: 2 - volume: 7 - pages: 411-431.

Macagno, N.  et al. 2019

Grading of meningeal solitary fibrous tumors/hemangiopericytomas: analysis of the prognostic value of the Marseille Grading System in a cohort of 132 patients

The finding that meningeal solitary fibrous tumors (SFTs) and meningeal hemangiopericytomas (HPCs) are both characterized by NAB2-STAT6 gene fusion has pushed their inclusion in the WHO 2016...
Brain Pathol. - issue: 1 - volume: 29 - pages: 18-27.

Caron, P.  et al. 2019

Signs and symptoms of acromegaly at diagnosis: the physician's and the patient's perspectives in the ACRO-POLIS study

PURPOSE: Acromegaly is characterized by a broad range of manifestations. Early diagnosis is key to treatment success, but is often delayed as symptomatology overlaps with common disorders. We...
Endocrine - issue: 1 - volume: 63 - pages: 120-129.

Vergier, J.  et al. 2019

Evaluation of flash glucose monitoring after long-term use: A pediatric survey

AIMS: To understand the opinions of children with type 1 diabetes about their everyday use of flash glucose monitoring. (FGM). METHODS: Children with type 1 diabetes using the FreeStyle Libre® FGM...
Prim Care Diabetes - issue: 1 - volume: 13 - pages: 63-70.

Olarescu, NC.  et al. 2019

Aggressive and Malignant Prolactinomas

Prolactin-secreting tumors (prolactinomas) represent the most common pituitary tumor type, accounting for 47-66% of functional pituitary tumors. Prolactinomas are usually benign and controllable...
- issue: 1 - volume: 109 - pages: 57-69.

Lombard, CA.  et al. 2019

Detection of Human Microchimerism following Allogeneic Cell Transplantation Using Droplet Digital PCR

Background. Cell transplantation is in clinical development for the treatment of various ailments including acquired and inborn hepatic diseases. Detection and quantification of the donor cells after...
- issue: - volume: - pages: .

Sahakian, N.  et al. 2019

Clinical management of difficult to treat macroprolactinomas

Introduction: Prolactinomas represent the most common pituitary adenomas encountered in the clinic. While a majority of these tumors will be successfully treated by dopamine agonist (DA) such as...
- issue: 3 - volume: 14 - pages: 179-192.