Bramswig, NC. et al. 2018 Genetic variants in components of the NALCN-UNC80-UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies) NALCN is a conserved cation channel, which conducts a permanent sodium leak current and regulates resting membrane potential and neuronal excitability. It is part of a large ion channel complex, the... Hum. Genet. - issue: 9 - volume: 137 - pages: 753-768.
Ghedira, N. et al. 2018 Clinical profile of comorbidity of rare diseases in a Tunisian patient: a case report associating incontinentia pigmenti and Noonan syndrome BACKGROUND: Noonan syndrome (NS) is an autosomal dominant multisystem disorder caused by the dysregulation of several genes belonging to the RAS Mitogen Activated Protein Kinase (MAPK) signaling... BMC Pediatr - issue: 1 - volume: 18 - pages: 286.
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: 5-6 - volume: 56 - pages: e23221.
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. These range from massive malformations of the brain and ocular primordia,... Hum Genet - issue: - volume: - pages: .
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. These range from massive malformations of the brain and ocular primordia,... Hum. Genet. - issue: - volume: - pages: .
El-Bazzal, L. et al. 2018 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) We report a consanguineous family where 2 boys presented with developmental delay, hypotonia, microcephaly, seizures, gastro-intestinal abnormalities, osteopenia, and neurological regression. Whole... Eur J Med Genet - issue: - volume: - pages: .
Valdeolivas, A. et al. 2018 Random Walk with Restart on Multiplex and Heterogeneous Biological Networks Motivation: Recent years have witnessed an exponential growth in the number of identified interactions between biological molecules. These interactions are usually represented as large and complex... Bioinformatics - issue: - volume: - pages: 1-9.
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.
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.
Jaouadi, H. et al. 2018 Novel ALPK3 mutation in a Tunisian patient with pediatric cardiomyopathy and facio-thoraco-skeletal features Pediatric cardiomyopathy is a complex disease with clinical and genetic heterogeneity. Recently, the ALPK3 gene was described as a new hereditary cardiomyopathy gene underlying pediatric... J Hum Genet - issue: - volume: 63 - pages: 1077-1082.
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.
Valdeolivas, A. et al. 2018 Random Walk with Restart on Multiplex and Heterogeneous Biological Networks Motivation: Recentyears have witnessed anexponentialgrowthin thenumberof identified interactions between biological molecules. These interactions are usually represented as large and complex networks,... Bioinformatics - issue: - volume: - pages: .
Guinde, J. et al. 2018 Lamins in Lung Cancer: Biomarkers and Key Factors for Disease Progression through miR-9 Regulation? Lung cancer represents the primary cause of cancer death in the world. Malignant cells identification and characterization are crucial for the diagnosis and management of patients with primary or... Cells - issue: 7 - volume: 7 - pages: .
Didier, G. et al. 2018 Identifying communities from multiplex biological networks by randomized optimization of modularity The identification of communities, or modules, is a common operation in the analysis of large biological networks. The Disease Module Identification DREAM challenge established a framework to evaluate... F1000Research - issue: - volume: 7 - pages: 1042.
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.
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.
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... Sci Rep - issue: 1 - volume: 8 - pages: 9112.
Odelin, G. et al. 2018 Krox20 defines a subpopulation of cardiac neural crest cells contributing to arterial valves and bicuspid aortic valve Although cardiac neural crest cells are required at early stages of arterial valve development, their contribution during valvular leaflet maturation remains poorly understood. Here, we show in mouse... Development - issue: 1 - volume: 145 - pages: pii: dev151944.
Bourgeois, P. et al. 2018 Tricho-Hepato-Enteric Syndrome mutation update: Mutations spectrum of TTC37 and SKIV2L, clinical analysis and future prospects Tricho-Hepato-Enteric syndrome (THES) is a very rare autosomal recessive syndromic enteropathy caused by mutations of either TTC37 or SKIV2L genes. Very little is known of these two gene products in... Hum. Mutat. - issue: 6 - volume: 39 - pages: 774-789.
Papoutsi, T. et al. 2018 Bmp2 and Notch cooperate to pattern the embryonic endocardium Signaling interactions between myocardium and endocardium pattern embryonic cardiac regions, instructing their development to fulfill specific functions in the mature heart. We show that ectopic Bmp2... Development - issue: 13 - volume: 145 - pages: pii: dev163378..