Portail HAL Académie des sciences
Not a member yet
332 research outputs found
Sort by
Next-generation sequencing confirms the implication of SLC24A1 in autosomal-recessive congenital stationary night blindness
No full textInternational audienceCongenital stationary night blindness (CSNB) is a clinically and genetically heterogeneous retinal disorder which represents rod photoreceptor dysfunction or signal transmission defect from photoreceptors to adjacent bipolar cells. Patients displaying photoreceptor dysfunction show a Riggs-electroretinogram (ERG) while patients with a signal transmission defect show a Schubert–Bornschein ERG. The latter group is subdivided into complete or incomplete (ic) CSNB. Only few CSNB cases with Riggs-ERG and only one family with a disease-causing variant in SLC24A1 have been reported. Whole-exome sequencing (WES) in a previously diagnosed icCSNB patient identified a homozygous nonsense variant in SLC24A1. Indeed, re-investigation of the clinical data corrected the diagnosis to Riggs-form of CSNB. Targeted next-generation sequencing (NGS) identified compound heterozygous deletions and a homozygous missense variant in SLC24A1 in two other patients, respectively. ERG abnormalities varied in these three cases but all patients had normal visual acuity, no myopia or nystagmus, unlike in Schubert–Bornschein-type of CSNB. This confirms that SLC24A1 defects lead to CSNB and outlines phenotype/genotype correlations in CSNB subtypes. In case of unclear clinical characteristics, NGS techniques are helpful to clarify the diagnosis
Superconductivity in the Organic Charge Transfer Salts: (TMTSF)2X and (TMTTF)2X
No full textInternational audienc
Biallelic Mutations in GNB3 Cause a Unique Form of Autosomal-Recessive Congenital Stationary Night Blindness
No full textInternational audienceCongenital stationary night blindness (CSNB) is a heterogeneous group of non-progressive inherited retinal disorders with characteristic electroretinogram (ERG) abnormalities. Riggs and Schubert-Bornschein are subtypes of CSNB and demonstrate distinct ERG features. Riggs CSNB demonstrates selective rod photoreceptor dysfunction and occurs due to mutations in genes encoding proteins involved in rod phototransduction cascade; night blindness is the only symptom and eye examination is otherwise normal. Schubert-Bornschein CSNB is a consequence of impaired signal transmission between the photoreceptors and bipolar cells. Schubert-Bornschein CSNB is subdivided into complete CSNB with an ON bipolar signaling defect and incomplete CSNB with both ON and OFF pathway involvement. Both subtypes are associated with variable degrees of night blindness or photophobia, reduced visual acuity, high myopia, and nystagmus. Whole-exome sequencing of a family screened negative for mutations in genes associated with CSNB identified biallelic mutations in the guanine nucleotide-binding protein subunit beta-3 gene (GNB3). Two siblings were compound heterozygous for a deletion (c.170_172delAGA [p.Lys57del]) and a nonsense mutation (c.1017G>A [p.Trp339(∗)]). The maternal aunt was homozygous for the nonsense mutation (c.1017G>A [p.Trp339(∗)]). Mutational analysis of GNB3 in a cohort of 58 subjects with CSNB identified a sporadic case individual with a homozygous GNB3 mutation (c.200C>T [p.Ser67Phe]). GNB3 encodes the β subunit of G protein heterotrimer (Gαβγ) and is known to modulate ON bipolar cell signaling and cone transducin function in mice. Affected human subjects showed an unusual CSNB phenotype with variable degrees of ON bipolar dysfunction and reduced cone sensitivity. This unique retinal disorder with dual anomaly in visual processing expands our knowledge about retinal signaling
Nuclear Spin-Lattice Relaxation and EPR Studies of TTF-TCNQ and TMTTF-TCNQ Under Hydrostatic Pressure
No full textInternational audienceTaylor & Francis makes every effort to ensure the accuracy of all the information (the "Content") contained in the publications on our platform. However, Taylor & Francis, our agents, and our licensors make no representations or warranties whatsoever as to the accuracy, completeness, or suitability for any purpose of the Content. Any opinions and views expressed in this publication are the opinions and views of the authors, and are not the views of or endorsed by Taylor & Francis. The accuracy of the Content should not be relied upon and should be independently verified with primary sources of information. Taylor and Francis shall not be liable for any losses, actions, claims, proceedings, demands, costs, expenses, damages, and other liabilities whatsoever or howsoever caused arising directly or indirectly in connection with, in relation to or arising out of the use of the Content.</div
L'eau, une ressource renouvelable convoitée et inégalement répartie
No full textInternational audiencePotential water scarcity is currently considered a common threat to mankind. In this article, we provide some answers to this question, starting with an evaluation of the resources, mostly as the annual meteoric flux, but also freshwater stocks, then of the water needs for domestic, agricultural and industrial use, and ecosystem needs; the balance between needs and resources is examined at the global and local scales. The concepts of blue water, green water, grey water and virtual water are introduced, and used to present the French water balance and its " water footprint ". The expected effects of climate change are summarized, followed by the risks of severe droughts, major water scarcity, and conflicts.Le « problème de l'eau » est de grande actualité, on parle parfois de « l'or bleu », de la pénurie actuelle supposée ou annoncée, de l'effet des changements climatiques, de l'augmentation des besoins du fait de la croissance démographique. Cet article tente de réunir quelques éléments de réponse à ces questions, en donnant d'abord un ordre de grandeur des ressources, principalement en flux mais également en stock, puis des besoins, en distinguant les principaux usages de l'eau (domestique, agricole, industriel, besoins des écosystèmes…), et enfin en examinant l'adéquation besoins-ressources, aux échelles globales mais aussi locales. On définit à cette occasion les notions d'eau bleue, d'eau verte, d'eau grise et d'eau virtuelle, que l'on applique au bilan en eau de la France pour définir « l'empreinte eau ». L'effet des changements climatiques est brièvement abordé, suivi des risques de sécheresse extrêmes, des problèmes de grande pénurie et de conflits
A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants
No full textInternational audienceAdvanced age-related macular degeneration (AMD) is the leading cause of blindness in the elderly, with limited therapeutic options. Here we report on a study of >12 million variants, including 163,714 directly genotyped, mostly rare, protein-altering variants. Analyzing 16,144 patients and 17,832 controls, we identify 52 independently associated common and rare variants (P < 5 × 10−8) distributed across 34 loci. Although wet and dry AMD subtypes exhibit predominantly shared genetics, we identify the first genetic association signal specific to wet AMD, near MMP9 (difference P value = 4.1 × 10−10). Very rare coding variants (frequency <0.1%) in CFH, CFI and TIMP3 suggest causal roles for these genes, as does a splice variant in SLC16A8. Our results support the hypothesis that rare coding variants can pinpoint causal genes within known genetic loci and illustrate that applying the approach systematically to detect new loci requires extremely large sample sizes
Compenser la destruction de zones humides : retours d'expériences sur le projet d'aéroport de Notre-Dame-des-Landes
No full textNational audienceDébut des années 2013, les auteurs de cet article ont été conjointement sollicités par l'Etat pour donner un avis sur la méthode de compensation des atteintes aux zones humides proposée par le projet d'aéroport du Grand Ouest à Notre Dame des Landes en Loire Atlantique. Cet article fait état des réflexions consécutives à ce travail qui, au-delà du cas abordé, portent sur les méthodes à utiliser pour compenser les atteintes aux zones humides détruites ou impactées par un aménagement. Il présente (i) le cadre juridique actuel de la compensation ; (ii) l'expérience internationale acquise, principalement aux Etats Unis car peu de cas similaires existent en France ; (iii) des recommandations sur les modalités d'évaluation du besoin et de la réponse de compensation des atteintes aux zones humides, en insistant notamment sur l'utilité d'y intégrer le facteur temporel, le risque d'échec, l'écologie du paysage et la valeur patrimoniale de ces milieux. En conclusion, l'attention est portée sur les questions que soulèvent la disponibilité de l'usage des terres de compensation, l'incertitude associée aux méthodes de génie écologique et la difficulté de prévoir des trajectoires de ces écosystèmes restaurés/recréés
