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Results: 1708  publications found.

Barthélémy, F.  et al. 2018

Dysferlin Exon 32 Skipping in Patient Cells

Dysferlinopathies are rare genetic diseases affecting muscles due to mutations in DYSF. Exon 32 of DYSF has been shown to be dispensable for dysferlin functions. Here we present a method to visualize...
Methods Mol. Biol. - issue: - volume: 1828 - pages: 489-496.

Zaffran, S.  et al. 2018

Ectopic expression of Hoxb1 induces cardiac and craniofacial malformations

Members of the large family of Hox transcription factors are encoded by genes whose tightly regulated expression in development and in space within different embryonic tissues confer positional...
Genesis - issue: 6-7 - volume: 56 - pages: e23221.

Blin, G.  et al. 2018

Geometrical confinement controls the asymmetric patterning of brachyury in cultures of pluripotent cells

Diffusible signals are known to orchestrate patterning during embryogenesis, yet diffusion is sensitive to noise. The fact that embryogenesis is remarkably robust suggests that additional layers of...
Development - issue: 18 - volume: 145 - pages: .

Maurice, F.  et al. 2018

Active cushing syndrome patients have increased ectopic fat deposition and bone marrow fat content compared to cured patients and healthy subjects: a pilot 1H-MRS study

OBJECTIVE: Glucocorticoid excess is one of the most important causes of bone disorders. Bone marrow fat (BMF) has been identified as a l new mediator of bone metabolism. Cushing syndrome (CS), is a...
Eur. J. Endocrinol. - issue: 5 - volume: 179 - pages: 307-317.

Vermalle, M.  et al. 2018

Lack of functional remission in Cushing's syndrome

INTRODUCTION: Hypercortisolism leads to severe clinical consequences persisting after the onset of remission. These physical sequelae of cortisol exposure are known to profoundly impact the patient's...
Endocrine - issue: 3 - volume: 61 - pages: 518-525.

De Bono, C.  et al. 2018

T-box genes and retinoic acid signaling regulate the segregation of arterial and venous pole progenitor cells in the murine second heart field

The arterial and venous poles of the mammalian heart are hotspots of congenital heart defects (CHD) such as those observed in 22q11.2 deletion (or DiGeorge) and Holt-Oram syndromes. These regions of...
Hum. Mol. Genet. - issue: 21 - volume: 27 - pages: 3747-3760.

Paci, M.  et al. 2018

The involvement of the nuclear lamina in human and rodent spermiogenesis: a systematic review

The nuclear lamina (NL) is a filamentous protein meshwork, composed essentially of lamins, situated between the inner nuclear membrane and the chromatin. The NL is a component of the nuclear envelope,...
Basic Clin Androl - issue: - volume: 28 - pages: 7.

Lin, S.  et al. 2018

Potent effects of roniciclib alone and with sorafenib against well-differentiated thyroid cancer

Activation of cyclin-dependent kinase activity is frequently observed in many human cancers; therefore, cyclin-dependent kinases that promote cell cycle transition and cell proliferation may be...
Endocr. Relat. Cancer - issue: 10 - volume: 25 - pages: 853-864.

Vély, F.  et al. 2018

Combined Immunodeficiency in Patients With Trichohepatoenteric Syndrome

The syndromic diarrhea/trichohepatoenteric syndrome (SD/THE) is a rare and multi-system genetic disorder caused by mutation in SKIV2L or in TTC37, two genes encoding subunits of the putative human SKI...
Front Immunol - issue: - volume: 9 - pages: 1036.

Neumann, HP.  et al. 2018

65 YEARS OF THE DOUBLE HELIX: Genetics informs precision practice in the diagnosis and management of pheochromocytoma

Although the authors of the present review have contributed to genetic discoveries in the field of pheochromocytoma research, we can legitimately ask whether these advances have led to improvements in...
Endocr. Relat. Cancer - issue: 8 - volume: 25 - pages: T201-T219.

Shabana, n.  et al. 2018

Identification of genetic basis of obesity and mechanistic link of genes and lipids in Pakistani population

We aimed to identify the genetic causes of common forms of obesity in the Pakistani people and find out the mechanistic link by observing the relationship of genes and serum lipid traits. Four hundred...
Biosci. Rep. - issue: 4 - volume: 38 - pages: .

Mignon-Ravix, C.  et al. 2018

Abnormal function of the UBA5 protein in a case of early developmental and epileptic encephalopathy with suppression-burst

Early myoclonic epilepsy (EME) or Aicardi syndrome is one of the most severe epileptic syndromes affecting neonates. We performed whole exome sequencing in a sporadic case affected by EME and his...
Hum. Mutat. - issue: 7 - volume: 39 - pages: 934-938.

Manzano, A.  et al. 2018

Novel, Moon and Mars, partial gravity simulation paradigms and their effects on the balance between cell growth and cell proliferation during early plant development

Clinostats and Random Positioning Machine (RPM) are used to simulate microgravity, but, for space exploration, we need to know the response of living systems to fractional levels of gravity (partial...
NPJ Microgravity - issue: - volume: 4 - pages: 9.

Ehinger, Y.  et al. 2018

Rett syndrome from bench to bedside: recent advances

Rett Syndrome is a severe neurological disorder mainly due to de novo mutations in the methyl-CpG-binding protein 2 gene ( MECP2). Mecp2 is known to play a role in chromatin organization and...
F1000Res - issue: - volume: 7 - pages: 398.

Barthélémy, F.  et al. 2018

Muscle Cells Fix Breaches by Orchestrating a Membrane Repair Ballet

Skeletal muscle undergoes many micro-membrane lesions at physiological state. Based on their sizes and magnitude these lesions are repaired via different complexes on a specific spatio-temporal...
J Neuromuscul Dis - issue: 1 - volume: 5 - pages: 21-28.

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.

Bodokh, Y.  et al. 2018

ALK-TPM3 rearrangement in adult renal cell carcinoma: Report of a new case showing loss of chromosome 3 and literature review

Seven cases of translocation-associated renal cell carcinoma involving ALK (ALK-tRCC) were referenced in the last World Health Organization's classification (2016), in a group of emerging/provisional...
Cancer Genet - issue: - volume: 221 - pages: 31-37.

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.

Hasegawa, S.  et al. 2018

Efficient construction of xenogeneic genomic libraries by circumventing restriction-modification systems that restrict methylated DNA

An efficient method to construct xenogeneic genomic libraries with low errors and bias by circumventing restriction-modification systems that restrict methylated DNA was developed. Un-methylated...
J. Microbiol. Methods - issue: - volume: 146 - pages: 13-15.

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.