Cavodeassi, F. et al. 2018 The hedgehog pathway and ocular developmental anomalies Mutations in effectors of the Hedgehog signaling pathway are responsible for a wide variety of ocular developmental anomalies (ODA). These range from massive malformations of the brain and ocular... - issue: - volume: - pages: .
Perrin, A. et al. 2018 Towards an harmonization of diagnosis by NGS of neuromuscular diseases - issue: Hors-série 2 - volume: 34 - pages: 20-22.
Castinetti, F. et al. 2018 Introduction to expert opinion on endocrine complications of new anticancer therapies Over the last 10 years, cancer treatment has progressed, with increasing use of tyrosine kinase inhibitors, mTOR inhibitors and, most recently, immunotherapy. These molecules, however, also incur... - issue: 5 - volume: 79 - pages: 535-538.
Pinard, A. et al. 2018 Analysis of HOXB1 gene in a cohort of patients with sporadic ventricular septal defect Ventricular septal defect (VSD) including outlet VSD of double outlet right ventricle (DORV) and perimembranous VSD are among the most common congenital heart diseases found at birth. HOXB1 encodes a... - issue: 5 - volume: 45 - pages: 1507-1513.
Le Roy, A. et al. 2018 Immunomodulatory Drugs Exert Anti-Leukemia Effects in Acute Myeloid Leukemia by Direct and Immunostimulatory Activities Immunomodulatory drugs (IMiDs) are anticancer drugs with immunomodulatory, anti-angiogenesis, anti-proliferative, and pro-apoptotic properties. IMiDs are currently used for the treatment of multiple... - issue: - volume: 9 - pages: 977.
Desvignes, J. et al. 2018 VarAFT: a variant annotation and filtration system for human next generation sequencing data With the rapidly developing high-throughput sequencing technologies known as next generation sequencing or NGS, our approach to gene hunting and diagnosis has drastically changed. In <10 years, these... Nucleic Acids Res. - issue: W1 - volume: 46 - pages: W545-W553.
Lo Cicero, A. et al. 2018 Pathological modelling of pigmentation disorders associated with Hutchinson-Gilford Progeria Syndrome (HGPS) revealed an impaired melanogenesis pathway in iPS-derived melanocytes Hutchinson-Gilford Progeria Syndrome (HGPS) is a rare genetic disorder that leads to premature aging. In this study, we used induced pluripotent stem cells to investigate the hypopigmentation... - issue: 1 - volume: 8 - pages: .
Amouroux, M. et al. 2018 Are men ready to use thermal male contraception? Acceptability in two French populations: New fathers and new providers Background Since the 1970s, international research has actively pursued hormonal male contraception (HMC) and, to a lesser extent, thermal male contraception (TMC). Although the efficacy of TMC has... - issue: 5 - volume: 13 - pages: e0195824.
Bahougne, T. et al. 2018 Functioning Mediastinal Paraganglioma Associated with a Germline Mutation of von Hippel-Lindau Gene We report the case of a 21-year old woman presenting with high blood pressure and raised normetanephrine levels. Indium-111-pentetreotide single photon-emission computed tomography with computed... - issue: 6 - volume: 7 - pages: .
Balducci, E. et al. 2018 Interphase FISH for BCR-ABL1 rearrangement on neutrophils: A decisive tool to discriminate a lymphoid blast crisis of chronic myeloid leukemia from a de novo BCR-ABL1 positive acute lymphoblastic leukemia Discrimination between lymphoid blast crisis of chronic myeloid leukemia (CML) and de novo BCR-ABL1 positive acute lymphoblastic leukemia (ALL) represents a diagnostic challenge because this... - issue: 1 - volume: 36 - pages: 344-348.
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... - issue: - volume: 221 - pages: 31-37.
Benoy, V. et al. 2018 HDAC6 is a therapeutic target in mutant GARS-induced Charcot-Marie-Tooth disease Peripheral nerve axons require a well-organized axonal microtubule network for efficient transport to ensure the constant crosstalk between soma and synapse. Mutations in more than 80 different genes... Brain - issue: 3 - volume: 141 - pages: 673-687.
Boyer, MG. et al. 2018 Urinary retention associated with aripiprazole: Report of a new case and review of the literature - issue: 3 - volume: 73 - pages: 287-289.
Fabre, A. et al. 2018 STAT3 Gain of Function: A New Kid on the Block in Interstitial Lung Diseases - issue: 11 - volume: 197 - pages: E22-E23.
Scoto, M. et al. 2018 Genetic therapies for inherited neuromuscular disorders Inherited neuromuscular disorders encompass a broad group of genetic conditions, and the discovery of these underlying genes has expanded greatly in the past three decades. The discovery of such genes... Lancet Child Adolesc Health - issue: 8 - volume: 2 - pages: 600-609.
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.
Etchevers, H. et al. 2018 The diverse neural crest: from embryology to human pathology We review here some of the historical highlights in exploratory studies of the vertebrate embryonic structure known as the neural crest. The study of the molecular properties of the cells that it... - issue: - volume: - pages: .
Roman, W. et al. 2018 Nuclear positioning in skeletal muscle Skeletal muscle cells possess a unique cellular architecture designed to fulfill their contractile function. Muscle cells (also known as myofibers) result from the fusion of hundreds of myoblasts and... Semin. Cell Dev. Biol. - issue: - volume: 82 - pages: 51-56.
Vely, 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... - issue: - volume: 9 - pages: .
Feige, P. et al. 2018 Orienting Muscle Stem Cells for Regeneration in Homeostasis, Aging, and Disease Muscle stem cells, or satellite cells, are required for skeletal muscle maintenance, growth, and repair. Following satellite cell activation, several factors drive asymmetric cell division to generate... Cell Stem Cell - issue: 5 - volume: 23 - pages: 653-664.