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1دورية أكاديمية
المؤلفون: Langhammer, F, Maroofian, R, Badar, R, Gregor, A, Rochman, M, Ratliff, JB, Koopmans, M, Herget, T, Hempel, M, Kortüm, F, Heron, D, Mignot, C, Keren, B, Brooks, S, Botti, C, Ben-Zeev, B, Argilli, E, Sherr, EH, Gowda, VK, Srinivasan, VM, Bakhtiari, S, Kruer, MC, Salih, MA, Kuechler, A, Muller, EA, Blocker, K, Kuismin, O, Park, KL, Kochhar, A, Brown, K, Ramanathan, S, Clark, RD, Elgizouli, M, Melikishvili, G, Tabatadze, N, Stark, Z, Mirzaa, GM, Ong, J, Grasshoff, U, Bevot, A, von Wintzingerode, L, Jamra, RA, Hennig, Y, Goldenberg, P, Al Alam, C, Charif, M, Boulouiz, R, Bellaoui, M, Amrani, R, Al Mutairi, F, Tamim, AM, Abdulwahab, F, Alkuraya, FS, Khouj, EM, Alvi, JR, Sultan, T, Hashemi, N, Karimiani, EG, Ashrafzadeh, F, Imannezhad, S, Efthymiou, S, Houlden, H, Sticht, H, Zweier, C
المصدر: Genetics in Medicine , 25 (8) , Article 100885. (2023)
مصطلحات موضوعية: Developmental and epileptic encephalopathy, Intellectual disability, Neurodevelopmental disorder, RHOBTB2, Seizures
الوصف: Purpose: Missense variants clustering in the BTB domain region of RHOBTB2 cause a developmental and epileptic encephalopathy with early-onset seizures and severe intellectual disability. Methods: By international collaboration, we assembled individuals with pathogenic RHOBTB2 variants and a variable spectrum of neurodevelopmental disorders. By western blotting, we investigated the consequences of missense variants in vitro. Results: In accordance with previous observations, de novo heterozygous missense variants in the BTB domain region led to a severe developmental and epileptic encephalopathy in 16 individuals. Now, we also identified de novo missense variants in the GTPase domain in 6 individuals with apparently more variable neurodevelopmental phenotypes with or without epilepsy. In contrast to variants in the BTB domain region, variants in the GTPase domain do not impair proteasomal degradation of RHOBTB2 in vitro, indicating different functional consequences. Furthermore, we observed biallelic splice-site and truncating variants in 9 families with variable neurodevelopmental phenotypes, indicating that complete loss of RHOBTB2 is pathogenic as well. Conclusion: By identifying genotype-phenotype correlations regarding location and consequences of de novo missense variants in RHOBTB2 and by identifying biallelic truncating variants, we further delineate and expand the molecular and clinical spectrum of RHOBTB2-related phenotypes, including both autosomal dominant and recessive neurodevelopmental disorders.
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10173027/1/RHOBTB_manuscript_230331_without%20trackchanges.docx.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10173027Test/
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2دورية أكاديمية
المؤلفون: El Charif, M. Hadi, Tarhini, Hawraa, Dushfunian, David, Al Harake, Hassan, Khasawneh, Hala, Abi Saad, George, Khalife, Mohamad, Sbaity, Eman
المصدر: Annals of Medicine & Surgery ; volume 85, issue 4, page 1258-1261 ; ISSN 2049-0801
الوصف: Introduction and importance: Desmoid-type fibromatosis (DF) is a rare subtype of soft tissue sarcomas that most commonly occurs in the anterior abdominal wall. When occurring in the retroperitoneum, DF is usually part of familial syndromes while only rarely sporadic. This makes it imperative to report any instance of experience with DF and the oncological outcomes of the different approaches to management. We report two cases of sporadic and severe DF occurring in the retroperitoneum at our institution. Case presentation: The first case is a male that presented with urinary obstruction symptoms and underwent surgical resection of the tumor that extended into the left kidney. The second case is a female with a history of recurrent desmoid tumors of the thigh and was incidentally diagnosed with retroperitoneal DF on imaging. She underwent tumor resection and radiotherapy; however, the tumor recurred with urinary obstruction symptoms that required another surgical resection. Histopathological characteristics and radiological imaging of both cases are described below. Clinical discussion: Desmoid tumors often recur, thus significantly influencing the quality of life which is reflected in one of our cases. Surgery remains a mainstay treatment, and both cases presented in this report required surgical resection of the tumors as symptomatic and curative measures. Conclusion: Retroperitoneal DF is a rare entity, and our cases add to the scarce literature available on the topic, which may well contribute to the formulation of practice-changing recommendations and guidelines focused on this rare variant of DF.
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3رسالة جامعية
المؤلفون: Charif, M. C.
مصطلحات موضوعية: [PHYS:ASTR:HE] Physics/Astrophysics/High Energy Astrophysical Phenomena, [PHYS:ASTR:HE] Physique/Astrophysique/Phénomènes cosmiques de haute energie, [SDU:ASTR:HE] Sciences of the Universe/Astrophysics/High Energy Astrophysical Phenomena, [SDU:ASTR:HE] Planète et Univers/Astrophysique/Phénomènes cosmiques de haute energie, Antares, Astroparticules, Neutrinos
الوصف: L'un des problèmes les plus intéressants de la physique moderne est celui de la matière noire de l'Univers, qui reste de nature insaisissable. L'existence de la matière noire est inférée par des preuves indirectes telles que les mesures des courbes de rotation des galaxies, des dispersions de vitesse des galaxies dans les amas galactiques et les effets de lentille gravitationnelle. Ces observations fournissent des preuves sur l'existence d'une matière invisible dominant notre Univers. Il n'existe cependant aucune indication claire sur sa nature. Les observations actuelles en font le constituant dominant de l'Univers, par opposition à la matière baryonique "normale". Deux solutions sont proposées pour résoudre ce mystère. La première est basée sur une modification de la loi de la gravité comme dans la dynamique newtonienne modifiée qui pourrait expliquer les divergences entre prédictions et observations de la dynamique des masses dans l'Univers. L'autre idée consiste à proposer l'existence d'une nouvelle particule massive qui n'interagit pas avec la lumière (appelée WIMP pour "Weakly Interactive Massive Particle"), mais pouvant influencer la matière lumineuse par gravité. Plusieurs théories proposent l'existence de telles nouvelles particules. La plus célèbre de ces théories est la supersymétrie, qui est une extension du Modèle Standard de la Physique des Particules. Si l'un des partenaires supersymétriques des bosons neutres est une particule stable et le plus léger de tous les superpartenaires, il devient alors un candidat idéal pour la matière noire. La supersymétrie est en général le cadre le plus favorable pour l'existence de la matière noire.
الإتاحة: http://tel.archives-ouvertes.fr/tel-00975918Test
http://tel.archives-ouvertes.fr/docs/00/97/59/18/PDF/PhDThesis_Charif.pdfTest -
4تقرير
المؤلفون: Fahim, N., Prada, F., Kneib, J. P., Sánchez, J., Hórler, P., Azzaro, M., Becerril, S., Bleuler, H., Bouri, M., Castano, J., Garrido, J., Gillet, D., Glez-de-Rivera, G., Gómez, C., Gómez, M. A., Gonzalez-Arroyo, A., Jenni, L., Makarem, L., Yepes, G., Arrillaga, X., Carrera, MA., Diego, R., Charif, M., Hug, M., Lachat, C.
مصطلحات موضوعية: Astrophysics - Instrumentation and Methods for Astrophysics, Astrophysics - Cosmology and Nongalactic Astrophysics
الوصف: Massive spectroscopic survey are becoming trendy in astrophysics and cosmology, as they can address new fundamental knowledge such as Galactic Archaeology and probe the nature of the mysterious Dark Energy. To enable massive spectroscopic surveys, new technology are being developed to place thousands of optical fibers at a given position on a focal plane. These technology needs to be: 1) accurate, with micrometer positional accuracy; 2) fast to minimize overhead; 3) robust to minimize failure; and 4) low cost. In this paper we present the development of a new 8-mm in diameter fiber positionner robot using two 4mm DC-brushless gearmotors, developed in the context of the Dark Energy Spectroscopic Instrument. This development was conducted by a Spanish-Swiss (ES-CH) team led by the Instituto de F\'isica Te\'orica (UAM-CSIC) and the Laboratoire d'Astrophysique (EPFL), in collaboration with the AVS company in Spain and the Faulhaber group (MPS & FAULHABER-MINIMOTOR) in Switzerland.
Comment: 11 pages, 19 figures, submitted to A&A, comments are welcomeالوصول الحر: http://arxiv.org/abs/1410.4722Test
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5دورية أكاديمية
المؤلفون: de Monvel, A. Boutet, Charif, M., Zielinski, L.
المصدر: St. Petersburg Mathematical Journal; 4/12/2024, Vol. 35 Issue 1, p61-82, 22p
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6دورية أكاديمية
المؤلفون: Ter Schiphorst, A., Duflos, C., Mourand, I., Gaillard, N., Dargazanli, C., Corti, L., Prin, P., Lippi, A., Ayrignac, X., Charif, M., Wacongne, A., Bouly, S., Lalu, T., Sablot, D., Blanchet-Fourcade, G., Landragin, N., Jacob, F., Sayad, C., Derraz, I., Cagnazzo, F., Lefevre, P.-H., Gascou, G., Beaufils, O., Costalat, V., Arquizan, C.
المصدر: Revue Neurologique ; volume 178, issue 6, page 558-568 ; ISSN 0035-3787
مصطلحات موضوعية: Neurology (clinical), Neurology
الإتاحة: https://doi.org/10.1016/j.neurol.2021.11.001Test
https://api.elsevier.com/content/article/PII:S0035378721007633?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0035378721007633?httpAccept=text/plainTest -
7دورية أكاديمية
المؤلفون: Charif M., Chevrollier A., Gueguen N., Bris C., Goudenege D., Desquiret-Dumas V., Leruez S., Colin E., Meunier A., Vignal C., Smirnov V., Defoort-Dhellemmes S., Drumare Bouvet I., Goizet C., Votruba M., Jurkute N., Yu-Wai-Man P., Tagliavini F., Caporali L., La Morgia C., Carelli V., Procaccio V., Zanlonghi X., Meunier I., Reynier P., Bonneau D., Amati-Bonneau P., Lenaers G.
المساهمون: Charif M., Chevrollier A., Gueguen N., Bris C., Goudenege D., Desquiret-Dumas V., Leruez S., Colin E., Meunier A., Vignal C., Smirnov V., Defoort-Dhellemmes S., Drumare Bouvet I., Goizet C., Votruba M., Jurkute N., Yu-Wai-Man P., Tagliavini F., Caporali L., La Morgia C., Carelli V., Procaccio V., Zanlonghi X., Meunier I., Reynier P., Bonneau D., Amati-Bonneau P., Lenaers G.
مصطلحات موضوعية: DOA, AFG3L2, SPG7, optic atrophy
الوصف: Objective To improve the genetic diagnosis of dominant optic atrophy (DOA), the most frequently inherited optic nerve disease, and infer genotype-phenotype correlations.MethodsExonic sequences of 22 genes were screened by new-generation sequencing in patients with DOA who were investigated for ophthalmology, neurology, and brain MRI.ResultsWe identified 7 and 8 new heterozygous pathogenic variants in SPG7 and AFG3L2. Both genes encode for mitochondrial matricial AAA (m-AAA) proteases, initially involved in recessive hereditary spastic paraplegia type 7 (HSP7) and dominant spinocerebellar ataxia 28 (SCA28), respectively. Notably, variants in AFG3L2 that result in DOA are located in different domains to those reported in SCA28, which likely explains the lack of clinical overlap between these 2 phenotypic manifestations. In comparison, the SPG7 variants identified in DOA are interspersed among those responsible for HSP7 in which optic neuropathy has previously been reported.ConclusionsOur results position SPG7 and AFG3L2 as candidate genes to be screened in DOA and indicate that regulation of mitochondrial protein homeostasis and maturation by m-AAA proteases are crucial for the maintenance of optic nerve physiology.
وصف الملف: ELETTRONICO
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/32548275; info:eu-repo/semantics/altIdentifier/wos/WOS:000549921400011; volume:6; issue:3; firstpage:1; lastpage:10; numberofpages:10; journal:NEUROLOGY. GENETICS; https://hdl.handle.net/11585/794081Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85093931635; https://ng.neurology.org/content/6/3/e428Test
الإتاحة: https://doi.org/10.1212/NXG.0000000000000428Test
https://hdl.handle.net/11585/794081Test
https://ng.neurology.org/content/6/3/e428Test -
8دورية أكاديمية
المؤلفون: Jurkute, N, Bertacchi, M, Arno, G, Tocco, C, Kim, US, Kruszewski, AM, Avery, RA, Bedoukian, EC, Han, J, Ahn, SJ, Pontikos, N, Acheson, J, Davagnanam, I, Bowman, R, Kaliakatsos, M, Gardham, A, Wakeling, E, Oluonye, N, Reddy, MA, Clark, E, Rosser, E, Amati-Bonneau, P, Charif, M, Lenaers, G, Meunier, I, Defoort, S, Vincent-Delorme, C, Robson, AG, Holder, GE, Jeanjean, L, Martinez-Monseny, A, Vidal-Santacana, M, Dominici, C, Gaggioli, C, Giordano, N, Caleo, M, Liu, GT, Genomics England Research Consortium, Webster, AR, Studer, M, Yu-Wai-Man, P
المصدر: Brain Communications , 3 (3) , Article fcab162. (2021)
مصطلحات موضوعية: BBSOAS, NR2F1, inherited optic neuropathy, mouse model, optic nerve head anomalies
الوصف: Pathogenic NR2F1 variants cause a rare autosomal dominant neurodevelopmental disorder referred to as the Bosch-Boonstra-Schaaf Optic Atrophy Syndrome. Although visual loss is a prominent feature seen in affected individuals, the molecular and cellular mechanisms contributing to visual impairment are still poorly characterized. We conducted a deep phenotyping study on a cohort of 22 individuals carrying pathogenic NR2F1 variants to document the neurodevelopmental and ophthalmological manifestations, in particular the structural and functional changes within the retina and the optic nerve, which have not been detailed previously. The visual impairment became apparent in early childhood with small and/or tilted hypoplastic optic nerves observed in 10 cases. High-resolution optical coherence tomography imaging confirmed significant loss of retinal ganglion cells with thinning of the ganglion cell layer, consistent with electrophysiological evidence of retinal ganglion cells dysfunction. Interestingly, for those individuals with available longitudinal ophthalmological data, there was no significant deterioration in visual function during the period of follow-up. Diffusion tensor imaging tractography studies showed defective connections and disorganization of the extracortical visual pathways. To further investigate how pathogenic NR2F1 variants impact on retinal and optic nerve development, we took advantage of an Nr2f1 mutant mouse disease model. Abnormal retinogenesis in early stages of development was observed in Nr2f1 mutant mice with decreased retinal ganglion cell density and disruption of retinal ganglion cell axonal guidance from the neural retina into the optic stalk, accounting for the development of optic nerve hypoplasia. The mutant mice showed significantly reduced visual acuity based on electrophysiological parameters with marked conduction delay and decreased amplitude of the recordings in the superficial layers of the visual cortex. The clinical observations in our study cohort, supported by the mouse ...
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10135851/1/Jurkute_Pathogenic%20NR2F1%20variants%20cause%20a%20developmental%20ocular%20phenotype%20recapitulated%20in%20a%20mutant%20mouse%20model_VoR.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10135851Test/
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9دورية أكاديمية
المؤلفون: Charif, M, Gueguen, N, Ferré, M, Elkarhat, Z, Khiati, S, LeMao, M, Chevrollier, A, Desquiret-Dumas, V, Goudenège, D, Bris, C, Kane, S, Alban, J, Chupin, S, Wetterwald, C, Caporali, L, Tagliavini, F, LaMorgia, C, Carbonelli, M, Jurkute, N, Barakat, A, Gohier, P, Verny, C, Barth, M, Procaccio, V, Bonneau, D, Zanlonghi, X, Meunier, I, Weisschuh, N, Schimpf-Linzenbold, S, Tonagel, F, Kellner, U, Yu-Wai-Man, P, Carelli, V, Wissinger, B, Amati-Bonneau, P, Reynier, P, European ION Group, ., Lenaers, G
المصدر: Brain Communications , 3 (2) , Article fcab063. (2021)
مصطلحات موضوعية: ACO2, Krebs cycle, aconitase 2, mitochondria, optic neuropathy
الوصف: Biallelic mutations in ACO2, encoding the mitochondrial aconitase 2, have been identified in individuals with neurodegenerative syndromes, including infantile cerebellar retinal degeneration and recessive optic neuropathies (locus OPA9). By screening European cohorts of individuals with genetically unsolved inherited optic neuropathies, we identified 61 cases harbouring variants in ACO2, among whom 50 carried dominant mutations, emphasizing for the first time the important contribution of ACO2 monoallelic pathogenic variants to dominant optic atrophy. Analysis of the ophthalmological and clinical data revealed that recessive cases are affected more severely than dominant cases, while not significantly earlier. In addition, 27% of the recessive cases and 11% of the dominant cases manifested with extraocular features in addition to optic atrophy. In silico analyses of ACO2 variants predicted their deleterious impacts on ACO2 biophysical properties. Skin derived fibroblasts from patients harbouring dominant and recessive ACO2 mutations revealed a reduction of ACO2 abundance and enzymatic activity, and the impairment of the mitochondrial respiration using citrate and pyruvate as substrates, while the addition of other Krebs cycle intermediates restored a normal respiration, suggesting a possible short-cut adaptation of the tricarboxylic citric acid cycle. Analysis of the mitochondrial genome abundance disclosed a significant reduction of the mitochondrial DNA amount in all ACO2 fibroblasts. Overall, our data position ACO2 as the third most frequently mutated gene in autosomal inherited optic neuropathies, after OPA1 and WFS1, and emphasize the crucial involvement of the first steps of the Krebs cycle in the maintenance and survival of retinal ganglion cells.
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10129233/1/fcab063.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10129233Test/
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10دورية أكاديمية
المؤلفون: Charif, M, Chevrollier, A, Gueguen, N, Bris, C, Goudenège, D, Desquiret-Dumas, V, Leruez, S, Colin, E, Meunier, A, Vignal, C, Smirnov, V, Defoort-Dhellemmes, S, Drumare Bouvet, I, Goizet, C, Votruba, M, Jurkute, N, Yu-Wai-Man, P, Tagliavini, F, Caporali, L, La Morgia, C, Carelli, V, Procaccio, V, Zanlonghi, X, Meunier, I, Reynier, P, Bonneau, D, Amati-Bonneau, P, Lenaers, G
المصدر: Neurology Genetics , 6 (3) , Article e428. (2020)
مصطلحات موضوعية: Optic nerve, Mitochondrial disorders, Spinocerebellar ataxia, Visual loss
الوصف: Objective: To improve the genetic diagnosis of dominant optic atrophy (DOA), the most frequently inherited optic nerve disease, and infer genotype-phenotype correlations. Methods: Exonic sequences of 22 genes were screened by new-generation sequencing in patients with DOA who were investigated for ophthalmology, neurology, and brain MRI. Results: We identified 7 and 8 new heterozygous pathogenic variants in SPG7 and AFG3L2. Both genes encode for mitochondrial matricial AAA (m-AAA) proteases, initially involved in recessive hereditary spastic paraplegia type 7 (HSP7) and dominant spinocerebellar ataxia 28 (SCA28), respectively. Notably, variants in AFG3L2 that result in DOA are located in different domains to those reported in SCA28, which likely explains the lack of clinical overlap between these 2 phenotypic manifestations. In comparison, the SPG7 variants identified in DOA are interspersed among those responsible for HSP7 in which optic neuropathy has previously been reported. Conclusions: Our results position SPG7 and AFG3L2 as candidate genes to be screened in DOA and indicate that regulation of mitochondrial protein homeostasis and maturation by m-AAA proteases are crucial for the maintenance of optic nerve physiology.
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10103658/1/Mutations%20in%20the%20m-AAA%20proteases%20AFG3L2%20and%20SPG7%20are%20causing%20isolated%20dominant%20optic%20atrophy.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10103658Test/
