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.
Frankel, D. et al. 2018 Detection of EGFR, KRAS and BRAF mutations in metastatic cells from cerebrospinal fluid BACKGROUND: In lung adenocarcinoma, molecular profiling of actionable genes has become essential to set up targeted therapies. However, the feasibility and the relevance of molecular profiling from... Clin. Chem. Lab. Med. - issue: 5 - volume: 56 - pages: 748-753.
Kitade, Y. et al. 2018 Production of 4-Hydroxybenzoic Acid by an Aerobic Growth-Arrested Bioprocess Using Metabolically Engineered Corynebacterium glutamicum Corynebacterium glutamicum was metabolically engineered to produce 4-hydroxybenzoic acid (4-HBA), a valuable aromatic compound used as a raw material for the production of liquid crystal polymers and... Appl. Environ. Microbiol. - issue: 6 - volume: 84 - pages: .
Sanders, A. et al. 2018 Using a Media Campaign to Increase Engagement With a Mobile-Based Youth Smoking Cessation Program PURPOSE: To describe the impact of the National Cancer Institute's promotion of its youth smoking cessation program, Smokefree Teen (SFT). DESIGN: We provide a description of campaign strategies and... Am J Health Promot - issue: 5 - volume: 32 - pages: 1273-1279.
Yauy, K. et al. 2018 MoBiDiC Prioritization Algorithm, a Free, Accessible, and Efficient Pipeline for Single-Nucleotide Variant Annotation and Prioritization for Next-Generation Sequencing Routine Molecular Diagnosis Interpretation of next-generation sequencing constitutes the main limitation of molecular diagnostics. In diagnosing myopathies and muscular dystrophies, another issue is efficiency in predicting the... - issue: 4 - volume: 20 - pages: 465-473.
Eiler, S. et al. 2018 Unstable Protein Purification Through the Formation of Stable Complexes Purification of proteins containing disordered regions and participating in transient complexes is often challenging because of the small amounts available after purification, their heterogeneity,... Methods Mol. Biol. - issue: - volume: 1764 - pages: 315-328.
Kheloufi, F. et al. 2018 Chronic use of proton pump inhibitors, adverse events and potential biological mechanisms: A translational analysis Proton pump inhibitors (PPIs) are among the most frequently prescribed drugs. Even if PPI are usually considered as safe, there is a growing concern for a range of adverse effects of chronic PPI... - issue: - volume: - 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 H-1-MRS study Objective: Glucocorticoid excess is one of the most important causes of bone disorders. Bone marrow fat (BMF) has been identified as a new mediator of bone metabol ism. Cushing syndrome (CS) is a main... - issue: 5 - volume: 179 - pages: 307-317.
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... - issue: - volume: - pages: .
Etchevers, H. 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... - issue: - volume: - pages: .
Rajabally, YA. et al. 2018 CHRONIC INFLAMMATORY DEMYELINATING POLYNEUROPATHY AND MALIGNANCY: A SYSTEMATIC REVIEW A systematic review of the literature was performed on the association of chronic inflammatory demyelinating polyneuropathy (CIDP) with malignancy. Hematological disorders are the most common... - issue: 6 - volume: 57 - pages: 875-883.
Caulier, A. et al. 2018 Primary red cell hydration disorders: Pathogenesis and diagnosis Hydration status is critical for erythrocyte survival and is mainly determined by intracellular cation content. Active pumps, passive transporters, and ion channels are the key components of volume... - issue: 1, SI - volume: 40 - pages: 68-73.
Sevy, A. et al. 2018 Detection of proximal conduction blocks using a triple stimulation technique improves the early diagnosis of Guillain-Barre syndrome Objective: Current diagnostic electrophysiological criteria can miss the early stages of Guillain-Barre syndrome (GBS). We evaluated the diagnostic efficiency of the triple stimulation technique (TST)... - issue: 1 - volume: 129 - pages: 127-132.
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... - issue: 4 - volume: 122 - pages: 583-590.
Froudarakis, ME. et al. 2018 Positive pleural cytology is an indicator for visceral pleural invasion in metastatic pleural effusions IntroductionIn case of undiagnosed pleural effusions, it is necessary to conduct thoracentesis with pleural fluid (PF) cytology. Yet, sensitivity of PF cytology is widely variable as a result of... - issue: 3 - volume: 12 - pages: 1011-1016.
Lescroart, F. et al. 2018 Hox and Tale transcription factors in heart development and disease Hox genes are highly conserved transcription factors with critical functions during development, in particular for patterning the antero-posterior axis of the embryo. Their action is very often... - issue: 11-12 - volume: 62 - pages: 837-846.