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6 results on '"Good, J.M."'

1. Syndrome des télomères courts chez l’adulte : une entité rare qu’il faut savoir évoquer [Short telomere syndrome in adults: a rare entity that should be evoked]

Author

Coukos, A., Daccord, C., Lazor, R., Blum, S., Naveiras, O., Unger, S., Vionnet, J., Gaide, O., Koutsokera, A., Moschouri, E., Sempoux, C., Good, J.M., Moradpour, D., Baerlocher, G.M., and Fraga, M.

Abstract

Short telomere syndrome (STS) is a group of rare, often underrecognized, diseases caused by defects in telomere-maintenance genes, leading to abnormal telomere shortening and associated with diverse multi-organ manifestations. In pediatric patients, STS typically presents with mucocutaneous or gastrointestinal lesions, bone marrow failure and neoplasia. In adulthood, aplastic bone marrow disease, liver disease and pulmonary fibrosis are classic clinical manifestations. At present, medical treatment options for STS remain limited. Danazol, a synthetic androgenic hormone, can slow down telomere shortening and thus limit the progression of the disease. Finally, hematopoietic, hepatic and pulmonary transplantation, sometimes combined, may be discussed in a multidisciplinary setting in certain situations.

Published
2022

2. De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus

Author

Galosi, S., Edani, B.H., Martinelli, S., Hansikova, H., Eklund, E.A., Caputi, C., Masuelli, L., Corsten-Janssen, N., Srour, M., Oegema, R., Bosch, D.G.M., Ellis, C.A., Amlie-Wolf, L., Accogli, A., Atallah, I., Averdunk, L., Barañano, K.W., Bei, R., Bagnasco, I., Brusco, A., Demarest, S., Alaix, A.S., Bonaventura, C. Di, Distelmaier, F., Elmslie, F., Gan-Or, Z., Good, J.M., Gripp, K., Kamsteeg, E.J., Macnamara, E., Marcelis, C.L.M., Mercier, N., Peeden, J., Pizzi, S., Pannone, L., Shinawi, M., Toro, C., Verbeek, N.E., Venkateswaran, S., Wheeler, P.G., Zdrazilova, L., Zhang, R., Zorzi, G., Guerrini, R., Sessa, W.C., Lefeber, D.J., Tartaglia, M., Hamdan, F.F., Grabińska, K.A., Leuzzi, V., Galosi, S., Edani, B.H., Martinelli, S., Hansikova, H., Eklund, E.A., Caputi, C., Masuelli, L., Corsten-Janssen, N., Srour, M., Oegema, R., Bosch, D.G.M., Ellis, C.A., Amlie-Wolf, L., Accogli, A., Atallah, I., Averdunk, L., Barañano, K.W., Bei, R., Bagnasco, I., Brusco, A., Demarest, S., Alaix, A.S., Bonaventura, C. Di, Distelmaier, F., Elmslie, F., Gan-Or, Z., Good, J.M., Gripp, K., Kamsteeg, E.J., Macnamara, E., Marcelis, C.L.M., Mercier, N., Peeden, J., Pizzi, S., Pannone, L., Shinawi, M., Toro, C., Verbeek, N.E., Venkateswaran, S., Wheeler, P.G., Zdrazilova, L., Zhang, R., Zorzi, G., Guerrini, R., Sessa, W.C., Lefeber, D.J., Tartaglia, M., Hamdan, F.F., Grabińska, K.A., and Leuzzi, V.

Abstract

Item does not contain fulltext

Published
2022

4. A draft sequence and preliminary analysis of the Neandertal genome

Author

Green, R.E., Krause, J., Briggs, A.W., Maricic, T., Stenzel, U., Kircher, M., Patterson, N., Li, H., Zhai, W., M. Hsi-Yang, Fritz, Hansen, N.F., Durand, E.Y., Malaspinas, A.-S., Jensen, J.D., Marques-Bonet, T., Alkan, C., Prüfer, K., Meyer, M., Burbano, H.A., Good, J.M., Schultz, R., Aximu-Petri, A., Butthof, A., Höber, B., Höffner, B., Siegemund, M., Weihmann, A., Nusbaum, C., Lander, E.S., Russ, C., Novod, N., Affourtit, J., Egholm, M., Verna, C., Rudan, P., Brajković, D., Kućan, Z., Gušić, I., Doronichev, V.B., Golovanova, L.V., Lalueza-Fox, C., Rasilla M. De, La, Fortea, J., Rosas, A., Schmitz, R., Johnson, P., Eichler, E.E., Falush, D., Birney, E., Mullikin, J.C., Slatkin, M., Nielsen, R., Kelso, J., Lachmann, M., Reich, D., Pääbo, S., Laboratoire de mécanique des sols, structures et matériaux (MSSMat), CentraleSupélec-Centre National de la Recherche Scientifique (CNRS), Institut de biologie et chimie des protéines [Lyon] (IBCP), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Centre National de la Recherche Scientifique (CNRS), Origine, structure et évolution de la biodiversité (OSEB), and Muséum national d'Histoire naturelle (MNHN)-Centre National de la Recherche Scientifique (CNRS)

Subjects
[SHS.ANTHRO-BIO]Humanities and Social Sciences/Biological anthropology, ComputingMilieux_MISCELLANEOUS
Abstract

International audience

Published
2010

5. On characterizing adaptive events unique to modern humans

Author

Crisci, J.L. (Jessica L.), Wong, A. (Alex), Good, J.M. (Jeffrey M.), Jensenf, J.D. (Jeffrey D.), Crisci, J.L. (Jessica L.), Wong, A. (Alex), Good, J.M. (Jeffrey M.), and Jensenf, J.D. (Jeffrey D.)

Abstract

Ever since the first draft of the human genome was completed in 2001, there has been increased interest in identifying genetic changes that are uniquely human, which could account for our distinct morphological and cognitive capabilities with respect to other apes. Recently, draft sequences of two extinct hominin genomes, a Neanderthal and Denisovan, have been released. These two genomes provide a much greater resolution to identify human-specific genetic differences than the chimpanzee, our closest extant relative. The Neanderthal genome paper presented a list of regions putatively targeted by positive selection around the time of the human-Neanderthal split. We here seek to characterize the evolutionary history of these candidate regions-examining evidence for selective sweeps in modern human populations as well as for accelerated adaptive evolution across apes. Results indicate that 3 of the top 20 candidate regions show evidence of selection in at least one modern human population (P < 5 × 10 5). Additionally, four genes within the top 20 regions show accelerated amino acid substitutions across multiple apes (P < 0.01), suggesting importance across deeper evolutionary time. These results highlight the importance of evaluating evolutionary processes across both recent and ancient evolutionary timescales and intriguingly suggest a list of candidate genes that may have been uniquely important around the time of the human-Neanderthal split.

Published
2011
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6. Genetic history of an archaic hominin group from Denisova Cave in Siberia

Author

Heng Li, Michael P. Richards, Adrian W. Briggs, Richard E. Green, Michael V. Shunkov, Bence Viola, Eric Durand, Can Alkan, Mark Stoneking, A.P. Derevianko, Svante Pääbo, Jeffrey M. Good, Udo Stenzel, Montgomery Slatkin, Jean-Jacques Hublin, Tomislav Maricic, Janet Kelso, Tomas Marques-Bonet, Johannes Krause, Nick Patterson, Sahra Talamo, Swapan Mallick, Martin Kircher, Philip L. F. Johnson, Qiaomei Fu, Evan E. Eichler, Matthias Meyer, David Reich, Reich D., Green R.E., Kircher M., Krause J., Patterson N., Durand E.Y., Viola B., Briggs A.W., Stenzel U., Johnson P.L.F., Maricic T., Good J.M., Marques-Bonet T., Alkan C., Fu Q., Mallick S., Li H., Meyer M., Eichler E.E., Stoneking M., Richards M., Talamo S., Shunkov M.V., Derevianko A.P., Hublin J.-J., Kelso J., Slatkin M., and Paabo S.

Subjects
Gene Flow, Asia, Neanderthal, Homínids, Molecular Sequence Data, education, Population, Zoology, Archaic humans, Neanderthal genome project, DNA, Mitochondrial, Article, Finger Phalanges, biology.animal, ADN mitocondrial -- Genètica, Animals, Humans, Denisovan, Phylogeny, education.field_of_study, Genome, Multidisciplinary, biology, Animal, Fossils, Recent African origin of modern humans, Finger Phalange, Fossil, Hominidae, biology.organism_classification, Europe, Siberia, Homo sapiens, Anatomically modern human, Melanesia, Tooth, Human
Abstract

8 páginas, 4 figuras, 1 tabla.-- Artículo Open Access.-- et al., Using DNA extracted from a finger bone found in Denisova Cave in southern Siberia, we have sequenced the genome of an archaic hominin to about 1.9-fold coverage. This individual is from a group that shares a common origin with Neanderthals. This population was not involved in the putative gene flow from Neanderthals into Eurasians; however, the data suggest that it contributed 4–6% of its genetic material to the genomes of present-day Melanesians. We designate this hominin population ‘Denisovans’ and suggest that it may have been widespread in Asia during the Late Pleistocene epoch. A tooth found in Denisova Cave carries a mitochondrial genome highly similar to that of the finger bone. This tooth shares no derived morphological features with Neanderthals or modern humans, further indicating that Denisovans have an evolutionary history distinct from Neanderthals and modern humans., The Presidential Innovation Fund of the Max Planck Society and the Krekeler Foundation provided financial support. M.S. was supported by a US National Institutes of Health grant (R01-GM40282). The National Science Foundation provided an International Postdoctoral Fellowship (OISE-0754461) to J.M.G., a Fellowship in Biological Informatics to P.L.F.J. and a HOMINID grant (1032255) to D.R.

Published
2010

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