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1. Was the GLE on May 17, 2012 linked with the M5.1-class flare the first in the 24th solar cycle?

Author

Augusto, C. R. A., Kopenkin, V., Navia, C. E., Felicio, A. C. S., Freire, F., Pinto, A. C. S., Pimentel, B., Paulista, M., Vianna, J., Fauth, C., and Sinzi, T.

Subjects
Astrophysics - Solar and Stellar Astrophysics
Abstract

On May 17, 2012 an M5.1-class flare exploded from the sun. An O-type coronal mass ejection (CME) was also associated with this flare. There was an instant increase in proton flux with peak at $\geq 100$ MeV, leading to S2 solar radiation storm level. In about 20 minutes after the X-ray emission, the solar particles reached the Earth.It was the source of the first (since December 2006) ground level enhancement (GLE) of the current solar cycle 24. The GLE was detected by neutron monitors (NM) and other ground based detectors. Here we present an observation by the Tupi muon telescopes (Niteroi, Brazil, $22^{0}.9 S$, $43^{0}.2 W$, 3 m above sea level) of the enhancement of muons at ground level associated with this M5.1-class solar flare. The Tupi telescopes registered a muon excess over background $\sim 20\%$ in the 5-min binning time profile. The Tupi signal is studied in correlation with data obtained by space-borne detectors (GOES, ACE), ground based neutron monitors (Oulu) and air shower detectors (the IceTop surface component of the IceCube neutrino observatory). We also report the observation of the muon signal possibly associated with the CME/sheath striking the Earth magnetosphere on May 20, 2012. We show that the observed temporal correlation of the muon excess observed by the Tupi muon telescopes with solar transient events suggests a real physical connection between them. Our observation indicates that combination of two factors, the low energy threshold of the Tupi muon telescopes and the location of the Tupi experiment in the South Atlantic Anomaly region, can be favorable in the study and detection of the solar transient events. Our experiment provides new data complementary to other techniques (space and ground based) in the study of solar physics., Comment: 9 pages, 10 figures

Published
2013

11. Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1

Author

Koczkowska, M, Callens, T, Chen, Y, Gomes, A, Hicks, AD, Sharp, A, Johns, E, Uhas, KA, Armstrong, L, Bosanko, KA, Babovic-Vuksanovic, D, Baker, L, Basel, DG, Bengala, M, Bennett, JT, Chambers, C, Clarkson, LK, Clementi, M, Cortes, FM, Cunningham, M, D'Agostino, MD, Delatycki, MB, Digilio, MC, Dosa, L, Esposito, S, Fox, S, Freckmann, M-L, Fauth, C, Giugliano, T, Giustini, S, Goetsch, A, Goldberg, Y, Greenwood, RS, Griffis, C, Gripp, KW, Gupta, P, Haan, E, Hachen, RK, Haygarth, TL, Hernandez-Chico, C, Hodge, K, Hopkin, RJ, Hudgins, L, Janssens, S, Keller, K, Kelly-Mancuso, G, Kochhar, A, Korf, BR, Lewis, AM, Liebelt, J, Lichty, A, Listernick, RH, Lyons, MJ, Maystadt, I, Ojeda, MM, McDougall, C, McGregor, LK, Melis, D, Mendelsohn, N, Nowaczyk, MJM, Ortenberg, J, Panzer, K, Pappas, JG, Pierpont, ME, Piluso, G, Pinna, V, Pivnick, EK, Pond, DA, Powell, CM, Rogers, C, Shahar, NR, Rutledge, SL, Saletti, V, Sandaradura, SA, Santoro, C, Schatz, UA, Schreiber, A, Scott, DA, Sellars, EA, Sheffer, R, Siqveland, E, Slopis, JM, Smith, R, Spalice, A, Stockton, DW, Streff, H, Theos, A, Tomlinson, GE, Tran, G, Trapane, PL, Trevisson, E, Ullrich, NJ, Van den Ende, J, Vergano, SAS, Wallace, SE, Wangler, MF, Weaver, DD, Yohay, KH, Zackai, E, Zonana, J, Zurcher, V, Claes, KBM, Eoli, M, Martin, Y, Wimmer, K, De Luca, A, Legius, E, Messiaen, LM, Koczkowska, M, Callens, T, Chen, Y, Gomes, A, Hicks, AD, Sharp, A, Johns, E, Uhas, KA, Armstrong, L, Bosanko, KA, Babovic-Vuksanovic, D, Baker, L, Basel, DG, Bengala, M, Bennett, JT, Chambers, C, Clarkson, LK, Clementi, M, Cortes, FM, Cunningham, M, D'Agostino, MD, Delatycki, MB, Digilio, MC, Dosa, L, Esposito, S, Fox, S, Freckmann, M-L, Fauth, C, Giugliano, T, Giustini, S, Goetsch, A, Goldberg, Y, Greenwood, RS, Griffis, C, Gripp, KW, Gupta, P, Haan, E, Hachen, RK, Haygarth, TL, Hernandez-Chico, C, Hodge, K, Hopkin, RJ, Hudgins, L, Janssens, S, Keller, K, Kelly-Mancuso, G, Kochhar, A, Korf, BR, Lewis, AM, Liebelt, J, Lichty, A, Listernick, RH, Lyons, MJ, Maystadt, I, Ojeda, MM, McDougall, C, McGregor, LK, Melis, D, Mendelsohn, N, Nowaczyk, MJM, Ortenberg, J, Panzer, K, Pappas, JG, Pierpont, ME, Piluso, G, Pinna, V, Pivnick, EK, Pond, DA, Powell, CM, Rogers, C, Shahar, NR, Rutledge, SL, Saletti, V, Sandaradura, SA, Santoro, C, Schatz, UA, Schreiber, A, Scott, DA, Sellars, EA, Sheffer, R, Siqveland, E, Slopis, JM, Smith, R, Spalice, A, Stockton, DW, Streff, H, Theos, A, Tomlinson, GE, Tran, G, Trapane, PL, Trevisson, E, Ullrich, NJ, Van den Ende, J, Vergano, SAS, Wallace, SE, Wangler, MF, Weaver, DD, Yohay, KH, Zackai, E, Zonana, J, Zurcher, V, Claes, KBM, Eoli, M, Martin, Y, Wimmer, K, De Luca, A, Legius, E, and Messiaen, LM

Abstract

We report 281 individuals carrying a pathogenic recurrent NF1 missense variant at p.Met1149, p.Arg1276, or p.Lys1423, representing three nontruncating NF1 hotspots in the University of Alabama at Birmingham (UAB) cohort, together identified in 1.8% of unrelated NF1 individuals. About 25% (95% confidence interval: 20.5-31.2%) of individuals heterozygous for a pathogenic NF1 p.Met1149, p.Arg1276, or p.Lys1423 missense variant had a Noonan-like phenotype, which is significantly more compared with the "classic" NF1-affected cohorts (all p < .0001). Furthermore, p.Arg1276 and p.Lys1423 pathogenic missense variants were associated with a high prevalence of cardiovascular abnormalities, including pulmonic stenosis (all p < .0001), while p.Arg1276 variants had a high prevalence of symptomatic spinal neurofibromas (p < .0001) compared with "classic" NF1-affected cohorts. However, p.Met1149-positive individuals had a mild phenotype, characterized mainly by pigmentary manifestations without externally visible plexiform neurofibromas, symptomatic spinal neurofibromas or symptomatic optic pathway gliomas. As up to 0.4% of unrelated individuals in the UAB cohort carries a p.Met1149 missense variant, this finding will contribute to more accurate stratification of a significant number of NF1 individuals. Although clinically relevant genotype-phenotype correlations are rare in NF1, each affecting only a small percentage of individuals, together they impact counseling and management of a significant number of the NF1 population.

Published
2020

16. Phenotype and genotype in Nicolaides-Baraitser syndrome

Author

Sousa, S. B., Hennekam, R. C., Abdul-Rahman, O., Alders, M., Azzarello-Burri, S., Bottani, A., Bowdin, S., Castori, M., Cormier-Daire, V., Deardorff, M., Del Campo Casanelles, M., Devriendt, K., Fauth, C., Filges, I., Fryer, A., Garavelli, L., Gillessen-Kaesback, G., Hall, B., Hirofumi, O., Holder, S., Hoyer, J., Jenkins, L., Klapeki, J., Krajewska-Walasek, M., Kosho, T., Kuechler, A., Macdermot, K., Magee, A., Mari, F., Mathieu-Dramard, M., Napier, M., Perez-Jurado, L. A., Picard, F. M., Morin, G., Murday, V., Pilch, J., Ronan, A., Rosser, E., Santen, G. W. E., Scott, R., Selicorni, A., Shannon, N., Santos-Simarro, F., Stewart, H., van den Boogaard, M. -J., Vilain, C., Vermeesch, J., Vogels, A., Wakeling, E., Wieczorek, D., Yesil, G., Zuffardi, O., and Zweier, C.

Subjects
Foot Deformities, Adult, Nicolaides-baraitser syndrome, Genotype, Adolescent, Foot Deformities, Congenital, Natural history, Hypotrichosis, Congenital, Young Adult, Intellectual Disability, SMARCA2, Humans, Abnormalities, Multiple, Preschool, Child, Genetic Association Studies, Epilepsy, BAF (SWI/SNF) complex, Intellectual disability, Phenotype, Child, Preschool, Face, Facies, Hair, Skin Abnormalities, Transcription Factors, Mutation, Abnormalities, Multiple
Abstract

Nicolaides-Baraitser syndrome (NCBRS) is an intellectual disability (ID)/multiple congenital anomalies syndrome caused by non-truncating mutations in the ATPase region of SMARCA2, which codes for one of the two alternative catalytic subunits of the BAF chromatin remodeling complex. We analyzed 61 molecularly confirmed cases, including all previously reported patients (n = 47) and 14 additional unpublished individuals. NCBRS is clinically and genetically homogeneous. The cardinal features (ID, short stature, microcephaly, typical face, sparse hair, brachydactyly, prominent interphalangeal joints, behavioral problems and seizures), are almost universally present. There is variability however, as ID can range from severe to mild, and sparse hair may be present only in certain age groups. There may be a correlation between the severity of the ID and presence of seizures, absent speech, short stature and microcephaly. SMARCA2 mutations causing NCBRS are likely to act through a dominant-negative effect. There may be some genotype-phenotype correlations (mutations at domain VI with severe ID and seizures; mutations affecting residues Pro883, Leu946, and Ala1201 with mild phenotypes) but numbers are still too small to draw definitive conclusions.

Published
2014

18. Designing a Bilingual Speech Corpus for French and German Language Learners: a Two-Step Process

Author

Fauth, C., Bonneau, A., Zimmerer, F., Trouvain, J., Bistra Andreeva, Colotte, V., Fohr, D., Jouvet, D., Jügler, J., Laprie, Y., Mella, O., Möbius, B., Fauth, Camille, apprentissage des langues assisté par ordinateur - - IFCASL2012 - ANR-12-FRAL-0007 - Programme franco-allemand en SHS - VALID, Analysis, perception and recognition of speech (PAROLE), Inria Nancy - Grand Est, Institut National de Recherche en Informatique et en Automatique (Inria)-Institut National de Recherche en Informatique et en Automatique (Inria)-Department of Natural Language Processing & Knowledge Discovery (LORIA - NLPKD), Laboratoire Lorrain de Recherche en Informatique et ses Applications (LORIA), Centre National de la Recherche Scientifique (CNRS)-Université de Lorraine (UL)-Institut National de Recherche en Informatique et en Automatique (Inria)-Centre National de la Recherche Scientifique (CNRS)-Université de Lorraine (UL)-Institut National de Recherche en Informatique et en Automatique (Inria)-Laboratoire Lorrain de Recherche en Informatique et ses Applications (LORIA), Centre National de la Recherche Scientifique (CNRS)-Université de Lorraine (UL)-Institut National de Recherche en Informatique et en Automatique (Inria)-Centre National de la Recherche Scientifique (CNRS)-Université de Lorraine (UL), Allgemeine Linguistik Computational Linguistics and phonetics (Allgemeine Linguistik), Saarland University [Saarbrücken], The European Language Resources Association, ANR-12-FRAL-0007,IFCASL,apprentissage des langues assisté par ordinateur(2012), Institut National de Recherche en Informatique et en Automatique (Inria)-Université de Lorraine (UL)-Centre National de la Recherche Scientifique (CNRS)-Institut National de Recherche en Informatique et en Automatique (Inria)-Université de Lorraine (UL)-Centre National de la Recherche Scientifique (CNRS)-Laboratoire Lorrain de Recherche en Informatique et ses Applications (LORIA), and Institut National de Recherche en Informatique et en Automatique (Inria)-Université de Lorraine (UL)-Centre National de la Recherche Scientifique (CNRS)-Université de Lorraine (UL)-Centre National de la Recherche Scientifique (CNRS)

Subjects
phonetics, [SCCO.LING]Cognitive science/Linguistics, [SCCO.LING] Cognitive science/Linguistics, speech corpus, language learning
Abstract

International audience; We present the design of a corpus of native and non-native speech for the language pair French-German, with a special emphasis on phonetic and prosodic aspects. To our knowledge there is no suitable corpus, in terms of size and coverage, currently available for the target language pair. To select the target L1-L2 interference phenomena we prepare a small preliminary corpus (corpus1), which is analyzed for coverage and cross-checked jointly by French and German experts. Based on this analysis, target phenomena on the phonetic and phonological level are selected on the basis of the expected degree of deviation from the native performance and the frequency of occurrence. 14 speakers performed both L2 (either French or German) and L1 material (either German or French). This allowed us to test, recordings duration, recordings material, the performance of our automatic aligner software. Then, we built corpus2 taking into account what we learned about corpus1. The aims are the same but we adapted speech material to avoid too long recording sessions. 100 speakers will be recorded. The corpus (corpus1 and corpus2) will be prepared as a searchable database, available for the scientific community after completion of the project.

Published
2014

19. Congenital myopathy Ehlers-Danlos overlap syndrome caused by the deficiency of an enzyme involved in protein folding in the endoplasmic reticulum: identification and characterization of a novel disorder

Author

Fauth, C., Baumann, M., Giunta, C., Krabichler, B., Rüschendorf, F., Bönnemann, C. G., Bittner, R. E., Colombi, Marina, Zoppi, Nicoletta, Quijano Roy, S., Romero, N. B., Carlier, R. Y., Muntoni, F., Cirak, S., Schreiber, G., Amberger, A., Deutschmann, A., Straub, V., Rohrbach, M., Rostásy, K., Karall, D., and Zschockej

Subjects
Myopathy, Ehlers-Danlos syndrome
Published
2011

20. A spatiotemporal prospective study of speech in patients with or without recurrent laryngeal nerve paralysis after thyroid surgery

Author

Fauth, C., Vaxelaire, B., Rodier, J. -F, Volkmar, P. -P, Bouarourou, F., Hirsch, F., Rudolph Sock, Fauth, Camille, Linguistique, Langues et Parole (LILPA), Université de Strasbourg (UNISTRA), Surgery Department, CRLCC Paul Strauss, Praxiling (Praxiling), and Université Paul-Valéry - Montpellier 3 (UPVM)-Centre National de la Recherche Scientifique (CNRS)

Subjects
larynx, vocal folds, perturbations, otorhinolaryngologic diseases, Clinical Phonetics, [SCCO.LING]Cognitive science/Linguistics, [SCCO.LING] Cognitive science/Linguistics
Abstract

8 pages; International audience; Abstract. This work is an acoustic investigation on some spectral and temporal characteristics of the speech of patients with recurrent paralyses, and also of patients without diagnosed paralyses but with alteration of their voice after thyroid surgery. Speech is evaluated during two tasks: producing sustained vowels and also a sequence of nonsense words. Consequences of surgery on the voice of patients are evaluated in order to identify the different perturbations that such a surgery may provoke, and also to uncover probable compensatory or readjustment strategies which a patient might deploy, alone or with the help of speech therapy. Globally, results show that due to surgery, some aspects of the speech production system are perturbed, as highlighted by the spatial and temporal parameters measured. However, these parameters tend to become normal as the patient recovers, in time and with the help of speech therapy. This is a longitudinal study.

Published
2011

21. ALG8-CDG: novel patients and review of the literature

Author

Hock, M., Wegleiter, K., Ralser, E., Kiechl-Kohlendorfer, U., Scholl-Burgi, S., Fauth, C., Steichen, E., Pichler, K., Lefeber, D.J., Matthjis, G., Keldermans, L., Maurer, K., Zschocke, J., Karall, D., Hock, M., Wegleiter, K., Ralser, E., Kiechl-Kohlendorfer, U., Scholl-Burgi, S., Fauth, C., Steichen, E., Pichler, K., Lefeber, D.J., Matthjis, G., Keldermans, L., Maurer, K., Zschocke, J., and Karall, D.

Abstract

Contains fulltext : 153189.pdf (publisher's version ) (Open Access), BACKGROUND: Since 1980, about 100 types of congenital disorders of glycosylation (CDG) have been reported representing an expanding group of inherited disorders. ALG8-CDG (= CDG-Ih) is one of the less frequently reported types of CDG, maybe due to its severe multi-organ involvement with coagulation disturbances, edema, massive gastrointestinal protein loosing enteropathy, cataracts, and often early death. We report three additional patients, provide an update on two previously reported, and summarize features of ten patients reported in literature. RESULTS: Of 15 ALG8-CDG patients, three were homozygous and 12 compound heterozygous. There were multiple prenatal abnormalities in 6/12 patients. In 13/15, there were symptoms at birth, 9/15 died within 12 months. Birth weight was appropriate in 11/12, only one was small for gestational age. Prematurity was reported in 7/12. Hydrops fetalis was noticed in 3, edemas in 11/13; gastrointestinal symptoms in 9/14; structural brain pathology, psychomental retardation, seizures, ataxia in 12/13, muscle hypotonia in 13/14. Common dysmorphic signs were: low set ears, macroglossia, hypertelorism, pes equinovarus, campto- and brachydactyly (13/15). In 10/11, there was coagulopathy, in 8/11 elevated transaminases; thrombocytopenia was present in 9/9. Eye involvement was reported in 9/14. CDG typical skin involvement was reported in 8/13. CONCLUSION: In ALG8-CDG, isoelectric focusing of transferrin in serum or plasma shows an abnormal sialotransferrin pattern. The diagnosis is confirmed by mutation analysis in ALG8; all patients reported so far had point mutations or small deletions. The prognosis is generally poor. Thus, a timely and correct diagnosis is important for counselling.

Published
2015

25. Chromosomal microaberrations in patients with epilepsy, intellectual disability, and congenital anomalies

Author

Spreiz, A., primary, Haberlandt, E., additional, Baumann, M., additional, Baumgartner Sigl, S., additional, Fauth, C., additional, Gautsch, K., additional, Karall, D., additional, Janetschek, C., additional, Rostasy, K., additional, Scholl-Bürgi, S., additional, Zotter, S., additional, Utermann, G., additional, Zschocke, J., additional, and Kotzot, D., additional

Published
2013
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27. Epileptic seizures and chromosomal microdeletions/duplications

Author

Spreiz, A, primary, Baumann, M, additional, Baumgartner Sigl, S, additional, Fauth, C, additional, Gautsch, K, additional, Karall, D, additional, Janetschek, C, additional, Rostásy, K, additional, Scholl Bürgi, S, additional, Zotter, S, additional, Utermann, G, additional, Zschocke, J, additional, Kotzot, D, additional, and Haberlandt, E, additional

Published
2013
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29. A novel variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy and hearing loss - a differential diagnosis in floppy infant syndrome

Author

Baumann, M, primary, Giunta, C, additional, Bönnemann, C, additional, Quijano-Roy, S, additional, Muntoni, F, additional, Cirak, S, additional, Schreiber, G, additional, Bittner, R, additional, Colombi, M, additional, Rohrbach, M, additional, Steinmann, B, additional, Rostásy, K, additional, Krabichler, B, additional, Zschocke, J, additional, and Fauth, C, additional

Published
2012
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30. Parental Origin of de novo Cytogenetically Balanced Reciprocal Non-Robertsonian Translocations

Author

Höckner, M., primary, Spreiz, A., additional, Frühmesser, A., additional, Tzschach, A., additional, Dufke, A., additional, Rittinger, O., additional, Kalscheuer, V., additional, Singer, S., additional, Erdel, M., additional, Fauth, C., additional, Grossmann, V., additional, Utermann, G., additional, Zschocke, J., additional, and Kotzot, D., additional

Published
2012
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32. Partial 7q11.23 deletions further implicate GTF2I and GTF2IRD1 as the main genes responsible for the Williams-Beuren syndrome neurocognitive profile

Author

Antonell, A., primary, Del Campo, M., additional, Magano, L. F., additional, Kaufmann, L., additional, Martinez de la Iglesia, J., additional, Gallastegui, F., additional, Flores, R., additional, Schweigmann, U., additional, Fauth, C., additional, Kotzot, D., additional, and Perez-Jurado, L. A., additional

Published
2009
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33. First non-mosaic case of isopseudodicentric chromosome 18 (psu idic(18)(pter → q22.1::q22.1 → pter) Is associated with multiple congenital anomalies reminiscent of trisomy 18 and 18q− syndrome

Author

Meins, M., primary, Böhm, D., additional, Großmann, A., additional, Herting, E., additional, Fleckenstein, B., additional, Fauth, C., additional, Speicher, M.R., additional, Schindler, R., additional, Zoll, B., additional, Bartels, I., additional, and Burfeind, Peter, additional

Published
2003
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38. Classifying by colors: FISH-based genome analysis.

Author

Fauth, C. and Speicher, M. R.

Subjects
*GENETICS, *IN situ hybridization, *CHROMOSOMES, *CHROMOSOME analysis, *TECHNOLOGY, *DNA probes
Abstract

In recent years a fascinating evolution of different multicolor fluorescence in situ hybridization (FISH) technologies could be witnessed. The various approaches to cohybridize multiple DNA probes in different colors opened new avenues for FISH-based automated karyotyping or the simultaneous analysis of multiple defined regions within the genome. These developments had a remarkable impact on microscopy design and the usage of highly sensitive area imagers. In addition, they led to the introduction of new fluorochromes with appropriate filter combinations, refinements of hybridization protocols, novel probe sets, and innovative software for automated chromosome analysis. This paper attempts to summarize the various multicolor approaches and discusses the application of the individual technologies. Copyright © 2001 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]

Published
2001
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39. First non‐mosaic case of isopseudodicentric chromosome 18 (psu idic(18)(pter → q22.1::q22.1 → pter) Is associated with multiple congenital anomalies reminiscent of trisomy 18 and 18q− syndrome

Author

Meins, M., Böhm, D., Großmann, A., Herting, E., Fleckenstein, B., Fauth, C., Speicher, M.R., Schindler, R., Zoll, B., Bartels, I., and Burfeind, Peter

Abstract

Isopseudodicentric chromosome 18 is very rare and results in a combination of partial trisomy and partial monosomy of chromosome 18. We report here a hypotrophic newborn with a lateral cleft lip and palate and multiple craniofacial dysmorphisms, a combined heart defect, unilateral hypoplasia of the kidney, bilateral aplasia of thumbs, and generalized contractures. Cytogenetic analysis revealed an isopseudodicentric chromosome 18 with breakpoint in 18q (46,XX,psu idic(18)(pter → q22.1::q22.1 → pter)). The isopseudodicentric chromosome 18 was observed in 100% of blood lymphocytes and umbilical cord fibroblasts, thus indicating a non‐mosaic finding of the isopseudodicentric chromosome in the child. An elongated derivative chromosome 18 had also been found prenatally in amniotic cells. In contrast, a terminal deletion (18q−) was detected in placental cell cultures. The breakpoint was mapped to a 0.9 Mb region on 18q22.1 (located 64.8–65.7 Mb from the telomere of the p‐arm) by a novel quantitative PCR approach with SYBR green detection. The results indicate an identical breakpoint of the isopseudodicentric chromosome 18 in the child and the 18q− chromosome in the placenta. To our knowledge this is the first report that a fetus carrying an isopseudodicentric chromosome 18 with breakpoint in 18q (46,XX,psu idic(18)(pter → q22.1::q22.1 → pter)) in non‐mosaic form can be viable, but is associated with severe congenital malformations of the child. © 2003 Wiley‐Liss, Inc.

Published
2004
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40. Transport of organic cations by kidney epithelial cell line LLC-PK1.

Author

Fouda, A K, Fauth, C, and Roch-Ramel, F

Abstract

Transport of two organic cations, N1-methylnicotinamide (NMN) and tetraethylammonium (TEA), was investigated in LLC-PK1 cells grown on Transwell collagen coated Nuclepore filters. Two min NMN or TEA unidirectional transepithelial flux and simultaneous cellular uptake were measured. Transport of NMN and TEA from basolateral to apical side was temperature-dependent, saturable and competitively inhibited by each other or by mepiperphenidol. NMN and TEA transport from the apical to the basolateral side was very slow, only slightly faster than that of mannitol. Apparent kinetic parameters of basolateral to apical transcellular flux were measured. For NMN apparent Km = 133.6 +/- 35.4 microM, Vmax = 48.3 +/- 5.6 pmol/cm2.2 min. For TEA apparent Km = 11.4 +/- 2.2 microM, Vmax = 42.1 +/- 1.8 pmol/cm2.2 min. Kinetic parameters of cellular uptake were also estimated. For NMN apparent Km = 436.9 +/- 139.8 microM, Vmax = 143.7 +/- 30.5 pmol/micrograms DNA. For TEA apparent Km = 50.3 +/- 7.2 microM, Vmax = 26.5 +/- 2.5 pmol/micrograms DNA. It is concluded that LLC-PK1 cells transport NMN and TEA from the basolateral to the apical side; this flux corresponds to the secretory transport of the renal proximal tubule. NMN and TEA share the same transport system, but NMN has a lower affinity.

Published
1990

42. Ébauche d'une organisation des constructions verbales en wolof

Author

Guérin, Maximilien, Mondes Iranien et Indien - UMR 7528, Université Sorbonne Nouvelle - Paris 3-École pratique des hautes études (EPHE), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Institut National des Langues et Civilisations Orientales (Inalco)-Centre National de la Recherche Scientifique (CNRS), Langage, LAngues et Cultures d'Afrique Noire (LLACAN), Institut National des Langues et Civilisations Orientales (Inalco)-Université Paris Diderot - Paris 7 (UPD7)-Centre National de la Recherche Scientifique (CNRS), Aleksandrova A., Assani N., Fauth C., Gemicioglu S., Hennecke I., Jakobs R., Jauriberry T., and Longo L.

Subjects
Morphosyntactic pattern, Patron morphosyntaxique, Aspect, Structure argumentale, Wolof, Pronom personnel, Perfect, Clitique, Clitic, Aspect grammatical, Argument structure, [SHS.LANGUE]Humanities and Social Sciences/Linguistics, Personnal pronouns, Parfait
Abstract

International audience; The aim of my presentation is to lay the foundations of a syntactic analysis of verbal constructions in Wolof. I will focus more specificaly on syntactic organization of elements in Wolof clauses. In this study I will classify and organize the various syntactic positions in these constructions, to reveal the inner structure of clauses. First, I briefly expose the Wolof verbal system, focusing on the various "conjugations", tense, aspect and polarity. Secondly, I will present the organization of Wolof verbal constructions. In order to do this, I will highlight several syntactic patterns which match the whole of simple constructions of Wolof. Afterwards, I will deal with the predicative marker. I will analyse it as the sentence head. Then, I will study the distribution of object and subject, and also the exact status of subject and object "pronouns" in Wolof. Finally, I will show that the aspect morpheme must be analysed as an auxiliary verb. I will hypothesize that construction of perfect in modern Wolof was used to outline a verb focus in an ancient state of the language.; L'objectif de notre présentation est de poser les bases d'une analyse syntaxique des constructions verbales du wolof. Nous nous intéresserons plus particulièrement à l'organisation syntaxique des unités au sein des propositions en wolof. Ce travail nous amènera à classer et organiser les différentes positions syntaxiques présentes dans ces constructions afin de mettre en évidence la structure interne des propositions. Nous commencerons par présenter brièvement le système verbal du wolof, en nous concentrant sur les différentes "conjugaisons" ainsi que sur l'expression du temps, de l'aspect et de la polarité. Nous présenterons ensuite l'organisation des constructions verbales du wolof. Pour ce faire, nous dégagerons plusieurs patrons syntaxiques qui permettent de rendre compte de l'ensemble des constructions simples de la langue. Nous nous pencherons ensuite sur le marqueur prédicatif, que nous considérerons comme la tête de la phrase. Ensuite, nous étudierons la distribution de l'objet et du sujet, ce qui nous amènera à préciser le statut exact des "pronoms" sujets et objets en wolof. Enfin, nous montrerons que le morphème de l'aspect doit être analysé comme un verbe auxiliaire, et nous poserons l'hypothèse selon laquelle la construction du parfait dans le wolof moderne servait à noter une focalisation du verbe dans un état antérieur de la langue.

Published
2012

43. Acquisition atypique du langage : une étude de cas du babillage d’un enfant ultérieurement diagnostiqué autiste

Author

Caroline Masson, Modèles, Dynamiques, Corpus (MoDyCo), Université Paris Nanterre (UPN)-Centre National de la Recherche Scientifique (CNRS), Sock, R. Vaxelaire, B. & Fauth, C., Masson, Caroline, and Sock, R. Vaxelaire, B. & Fauth, C.

Subjects
autisme, [SHS] Humanities and Social Sciences, prosodie, acquisition du langage, [SHS]Humanities and Social Sciences
Abstract

L’autisme, trouble envahissant du développement, perturbe plusieurs aspects du développement de l’enfant tels que les interactions sociales et le langage. Ce dernier présente d’ailleurs un ensemble de particularités : écholalies, inversions pronominales, troubles pragmatiques, anomalies du rythme, de l’intonation et de l’intensité de la voix (Tager-Flusberg, 1994 ; Tager-Flusberg et al, 2005 ; Courtois-Du-Passage & Galloux, 2004). Les spécificités du langage de l’enfant autiste après trois ans ont été largement décrites. En revanche, peu d’études se sont intéressées au développement vocal précoce de ces enfants en raison, notamment, de la variabilité dans la sévérité du syndrome. A travers cet article, nous proposons de contribuer à l’étude des caractéristiques du prélangage de l’enfant autiste. A l’instar de Oller (1994, 1999, 2010), Vinter (1995, 2005) et Sheinkopf et al (2000), nous considérons que les particularités vocales précoces des enfants autistes aux niveaux syllabique et prosodique pourraient être considérées comme des signes avant-coureurs de la perturbation profonde du langage. Ce sont précisément les atypies qui sont examinées dans la description du babillage de l’enfant autiste étudié. A travers des analyses qualitatives de la forme des productions vocales de cet enfant, nous montrerons que :1°) Les constructions de son babillage sont différentes de celles des enfants tout-venant. Les dysfonctionnements précoces expliqueraient alors le trouble massif ultérieur ;2°) Le prélangage de cet enfant ne s’adapte pas à la situation de communication, alors que cet ajustement représente l’une des conditions d’entrée dans le langage (Konopczynski, 1991, 1995).Nous supposons à l’issue de cet article que c’est parce que les bases du langage sont fortement perturbées que celui-ci ne peut émerger.

44. The use of a woman's own eggs in her first IVF treatment at the age of 48 years and 10 months with successful live birth after PGT-A: a case report.

Author

Gomes C, Barreto MN, Sousa AS, Reis DG, Beirigo P, Reis I, Fauth C, Belo A, Park H, Tavares AL, Munhoz L, Alegretti JR, Chéles DS, and Lorenzon AR

Abstract

Natural conception in women after the age of 45 years is rare. The probability of successful pregnancy in this specific group of women after IVF and embryo transfer with autologous oocytes is also reduced. In addition, advanced maternal age is associated with an increased risk of aneuploidies and other associated complications during pregnancy. Generally, women who are over 44 years old are advised to receive IVF treatment with donated oocytes due to poor oocyte quality and low ovarian reserve. Although IVF outcomes in women of advanced age can be associated with the best prognosis when donated oocytes are used, IVF is not always well accepted by infertile couples. This is a case report of a woman who achieved a clinical pregnancy and live birth in her first attempt at IVF treatment with her own eggs and a euploid embryo at 48 years and 10 months, respectively, at the time of oocyte retrieval. This case demonstrates that limited attempts at assisted reproductive technology with older women's own eggs may be an option in specific cases.

Published
2024
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45. Loss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosis.

Author

Dentici ML, Niceta M, Lepri FR, Mancini C, Priolo M, Bonnard AA, Cappelletti C, Leoni C, Ciolfi A, Pizzi S, Cordeddu V, Rossi C, Ferilli M, Mucciolo M, Colona VL, Fauth C, Bellini M, Biasucci G, Sinibaldi L, Briuglia S, Gazzin A, Carli D, Memo L, Trevisson E, Schiavariello C, Luca M, Novelli A, Michot C, Sweertvaegher A, Germanaud D, Scarano E, De Luca A, Zampino G, Zenker M, Mussa A, Dallapiccola B, Cavé H, Digilio MC, and Tartaglia M

Subjects
Humans, Female, Male, Child, Child, Preschool, Infant, Loss of Function Mutation, Adolescent, Repressor Proteins genetics, Adult, Craniosynostoses genetics, Craniosynostoses pathology, Noonan Syndrome genetics, Noonan Syndrome pathology, Phenotype
Abstract

Pathogenic, largely truncating variants in the ETS2 repressor factor (ERF) gene, encoding a transcriptional regulator negatively controlling RAS-MAPK signaling, have been associated with syndromic craniosynostosis involving various cranial sutures and Chitayat syndrome, an ultrarare condition with respiratory distress, skeletal anomalies, and facial dysmorphism. Recently, a single patient with craniosynostosis and a phenotype resembling Noonan syndrome (NS), the most common disorder among the RASopathies, was reported to carry a de novo loss-of-function variant in ERF. Here, we clinically profile 26 individuals from 15 unrelated families carrying different germline heterozygous variants in ERF and showing a phenotype reminiscent of NS. The majority of subjects presented with a variable degree of global developmental and/or language delay. Their shared facial features included absolute/relative macrocephaly, high forehead, hypertelorism, palpebral ptosis, wide nasal bridge, and low-set/posteriorly angulated ears. Stature was below the 3rd centile in two-third of the individuals, while no subject showed typical NS cardiac involvement. Notably, craniosynostosis was documented only in three unrelated individuals, while a dolichocephalic aspect of the skull in absence of any other evidence supporting a premature closing of sutures was observed in other 10 subjects. Unilateral Wilms tumor was diagnosed in one individual. Most cases were familial, indicating an overall low impact on fitness. Variants were nonsense and frameshift changes, supporting ERF haploinsufficiency. These findings provide evidence that heterozygous loss-of-function variants in ERF cause a "RASopathy" resembling NS with or without craniosynostosis, and allow a first dissection of the molecular circuits contributing to MAPK signaling pleiotropy., (© 2024. The Author(s), under exclusive licence to European Society of Human Genetics.)

Published
2024
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46. PSMF1 variants cause a phenotypic spectrum from early-onset Parkinson's disease to perinatal lethality by disrupting mitochondrial pathways.

Author

Magrinelli F, Tesson C, Angelova PR, Salazar-Villacorta A, Rodriguez JA, Scardamaglia A, Chung BH, Jaconelli M, Vona B, Esteras N, Kwong AK, Courtin T, Maroofian R, Alavi S, Nirujogi R, Severino M, Lewis PA, Efthymiou S, O'Callaghan B, Buchert R, Sofan L, Lis P, Pinon C, Breedveld GJ, Chui MM, Murphy D, Pitz V, Makarious MB, Cassar M, Hassan BA, Iftikhar S, Rocca C, Bauer P, Tinazzi M, Svetel M, Samanci B, Hanağası HA, Bilgiç B, Obeso JA, Kurtis MM, Cogan G, Başak AN, Kiziltan G, Gül T, Yalçın G, Elibol B, Barišić N, Ng EW, Fan SS, Hershkovitz T, Weiss K, Raza Alvi J, Sultan T, Azmi Alkhawaja I, Froukh T, E Alrukban HA, Fauth C, Schatz UA, Zöggeler T, Zech M, Stals K, Varghese V, Gandhi S, Blauwendraat C, Hardy JA, Lesage S, Bonifati V, Haack TB, Bertoli-Avella AM, Steinfeld R, Alessi DR, Steller H, Brice A, Abramov AY, Bhatia KP, and Houlden H

Abstract

Dissecting biological pathways highlighted by Mendelian gene discovery has provided critical insights into the pathogenesis of Parkinson's disease (PD) and neurodegeneration. This approach ultimately catalyzes the identification of potential biomarkers and therapeutic targets. Here, we identify PSMF1 as a new gene implicated in PD and childhood neurodegeneration. We find that biallelic PSMF1 missense and loss-of-function variants co-segregate with phenotypes from early-onset PD and parkinsonism to perinatal lethality with neurological manifestations across 15 unrelated pedigrees with 22 affected subjects, showing clear genotype-phenotype correlation. PSMF1 encodes the proteasome regulator PSMF1/PI31, a highly conserved, ubiquitously expressed partner of the 20S proteasome and neurodegeneration-associated F-box-O 7 and valosin-containing proteins. We demonstrate that PSMF1 variants impair mitochondrial membrane potential, dynamics and mitophagy in patient-derived fibroblasts. Additionally, we develop models of psmf1 knockdown Drosophila and Psmf1 conditional knockout mouse exhibiting age-dependent motor impairment, with diffuse gliosis in mice. These findings unequivocally link defective PSMF1 to early-onset PD and neurodegeneration and suggest mitochondrial dysfunction as a mechanistic contributor.

Published
2024
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48. Treatment of psychiatric comorbidities and interaction patterns in Coffin-Siris syndrome: A case report of a 4-year-old girl.

Author

Jahnke-Majorkovits AC, Fauth C, Gander M, and Sevecke K

Abstract

Coffin-Siris syndrome (CSS) is a rare genetic disorder and often co-occurs with attention-deficit hyperactivity disorder (ADHD) and autism spectrum (ASD). The present case study illustrates possible therapeutic interventions of these common psychiatric comorbidities taking into account the family interaction patterns. This can contribute to improve holistic management and overall level of functionality., Competing Interests: No conflicts of interest., (© 2024 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd.)

Published
2024
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49. Generation of the human induced pluripotent stem cell line (IBKMOLi002-A) from PBMCs of a patient carrying the heterozygous L271H mutation of the voltage-gated calcium channel subunit Ca v 1.3-encoding CACNA1D gene.

Author

Tisch M, Carmen De Mingo Alemany M, Suarez-Cubero M, Fauth C, Defrancesco M, Zschocke J, Günther K, and Edenhofer F

Subjects
Blood Cells, Calcium Channels metabolism, Calcium Channels, L-Type genetics, Calcium Channels, L-Type metabolism, Humans, Mutation genetics, Hypoglycemia metabolism, Induced Pluripotent Stem Cells metabolism
Abstract

Congenital hyperinsulinemic hypoglycemia (HH) is the most frequent cause of persistent and recurrent hypoglycemia. Peripheral mononuclear blood cells (PBMCs) from a patient diagnosed with HH, alongside autism-spectrum-disorder (ASD), carrying a heterozygous c.812 T>A (L271H) mutation in the voltage-gated calcium channel subunit Ca v 1.3-encoding gene CACNA1D, were reprogrammed into induced pluripotent stem cells (iPSC). The CACNA1D L271H iPSC (IBKMOLi002-A) exhibit a normal karyotype, high expression of pluripotency-associated markers and the capacity to differentiate into cells of all three germ layers. We provide a novel patient-specific iPSC line, allowing to study HH, ASD, the associated neurodevelopmental disorder as well as CACNA1D-associated channelopathies in general., (Copyright © 2022. Published by Elsevier B.V.)

Published
2022
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50. Fundamental Aspects of Ceria Supported Au Catalysts Probed by In Situ/Operando Spectroscopy and TAP Reactor Studies.

Author

Abdel-Mageed AM, Chen S, Fauth C, Häring T, and Bansmann J

Abstract

The discovery of the activity of dispersed gold nanoparticles three decades ago paved the way for a new era in catalysis. The unusual behavior of these catalysts sparked many questions about their working mechanism. In particular, Au/CeO 2 proved to be an efficient catalyst in several reactions such as CO oxidation, water gas shift, and CO 2 reduction. Here, by employing findings from operando X-ray absorption spectroscopy at the near and extended Au and Ce L III energy edges, we focus on the fundamental aspects of highly active Au/CeO 2 catalysts, mainly in the CO oxidation for understanding their complex structure-reactivity relationship. These results were combined with findings from in situ diffuse reflectance FTIR and Raman spectroscopy, highlighting the changes of adlayer and ceria defects. For a comprehensive understanding, the spectroscopic findings will be supplemented by results of the dynamics of O 2 activation obtained from Temporal Analysis of Products (TAP). Merging these results illuminates the complex relationship among the oxidation state, size of the Au nanoparticles, the redox properties of CeO 2 support, and the dynamics of O 2 activation., (© 2021 The Authors. ChemPhysChem published by Wiley-VCH GmbH.)

Published
2021
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