Zobrazeno 1 - 10
of 11
pro vyhledávání: '"Megan E. Grout"'
Publikováno v:
eLife, Vol 4 (2015)
Changes in gene activity are essential for evolutionary diversification. Yet, elucidating the cellular behaviors that underlie modifications to adult form remains a profound challenge. We use neural crest-derived adult pigmentation of zebrafish and p
Externí odkaz:
https://doaj.org/article/d57613a38a48462ca9ccd78f3cc5803a
Autor:
Sylvia E. C. van Beersum, Stephan C.F. Neuhauss, Jeroen van Reeuwijk, Fowzan S. Alkuraya, Mostafa Asadollahi, Julie C. Van De Weghe, Marius Ueffing, Manali Chitre, Dan Doherty, Arezou Karamzade, Caitlin V. Miller, Stef J.F. Letteboer, Tamara D.S. Rusterholz, Michael J. Bamshad, Megan E. Grout, Ruxandra Bachmann-Gagescu, Matthias Gesemann, Heba Morsy, Karsten Boldt, Ronald Roepman, John A. Sayer, Miguel Barroso-Gil, Jennifer C. Dempsey, Ranad Shaheen, Arianna Gomez, Brooke L. Latour, Mohammad Keramatipour, Deborah A. Nickerson
Publikováno v:
Journal of Clinical Investigation, 130, 8, pp. 4423-4439
J Clin Invest
Journal of Clinical Investigation, 130, 4423-4439
J Clin Invest
Journal of Clinical Investigation, 130, 4423-4439
Contains fulltext : 225431.pdf (Publisher’s version ) (Closed access) Joubert syndrome (JBTS) is a recessive neurodevelopmental ciliopathy characterized by a pathognomonic hindbrain malformation. All known JBTS genes encode proteins involved in the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aa7189d0e48e47effe94af8b9a01c7cf
Autor:
Michael Sacher, Avraham Shaag, Michael O. Dorschner, Miroslav P. Milev, David S. Hanna, Christopher J. Hale, Ian A. Glass, Yong-Han Hank Cheng, Dan Doherty, Keshika Prematilake, Simon Edvardson, Megan E. Grout, Djenann Saint-Dic, Orly Elpeleg
Publikováno v:
The American Journal of Human Genetics. 101:291-299
Progressive childhood encephalopathy is an etiologically heterogeneous condition characterized by progressive central nervous system dysfunction in association with a broad range of morbidity and mortality. The causes of encephalopathy can be either
Autor:
Marius Ueffing, Arianna Gomez, Ranad Shaheen, Karsten Boldt, Matthias Gesemann, Stephan C.F. Neuhauss, Ronald Roepman, Tamara D.S. Rusterholz, Julie C. Van De Weghe, Deborah A. Nickerson, Brooke L. Latour, Stef J.F. Letteboer, Fowzan S. Alkuraya, Sylvia E. C. van Beersum, Heba Morsy, Jennifer C. Dempsey, Ruxandra Bachmann-Gagescu, Caitlin V. Miller, Michael J. Bamshad, Megan E. Grout, Jeroen van Reeuwijk, Dan Doherty
Joubert syndrome (JBTS) is a recessive neurodevelopmental ciliopathy, characterized by a pathognomonic hindbrain malformation. All known JBTS-genes encode proteins involved in the structure or function of primary cilia, ubiquitous antenna-like organe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f3ff3bec0b33061a35d6e48edf26e7fe
https://doi.org/10.1101/817213
https://doi.org/10.1101/817213
Autor:
Rachel Schot, Soma Das, Gisele E. Ishak, Andrea Hanson-Kahn, Marjon van Slegtenhorst, Arthur Lee, William B. Dobyns, Jonathan A. Bernstein, Kimberly A. Aldinger, Frans W. Verheijen, Felice D'Arco, Dan Doherty, Martina Wilke, Laura Vandervore, Esmee Kasteleijn, Ghayda M. Mirzaa, Joyce Kobori, Marsha M. Wheeler, Katherine R. Chao, Lucinda Carr, Elizabeth C. Engle, Tetsuya Okazaki, Yoshiaki Saito, Andrew E. Timms, Marjolein H G Dremmen, Krzysztof Szczałuba, Michael J. Bamshad, Megan E. Grout, Kaori Miyana, Grazia M.S. Mancini, Brenda J. Barry, Deborah A. Nickerson, Masayuki Sasaki
Publikováno v:
American Journal of Human Genetics, 103(6), 1009-1021. Cell Press
To date, mutations in 15 actin- or microtubule-associated genes have been associated with the cortical malformation lissencephaly and variable brainstem hypoplasia. During a multicenter review, we recognized a rare lissencephaly variant with a comple
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fffbb3be6c1c17f6f2b8ba4840be27cc
https://biblio.vub.ac.be/vubir/macf1-mutations-encoding-highly-conserved-zincbinding-residues-of-the-gar-domain-cause-defects-in-neuronal-migration-and-axon-guidance(75507f8c-20c7-4001-9b37-f7506e94c546).html
https://biblio.vub.ac.be/vubir/macf1-mutations-encoding-highly-conserved-zincbinding-residues-of-the-gar-domain-cause-defects-in-neuronal-migration-and-axon-guidance(75507f8c-20c7-4001-9b37-f7506e94c546).html
Autor:
Jennifer C. Dempsey, Hannah M. Tully, Kimberly A. Aldinger, Megan E. Grout, Dan Doherty, Michele G. Mehaffey, William B. Dobyns
Rhombencephalosynapsis (RES) is a unique cerebellar malformation characterized by fusion of the cerebellar hemispheres with partial or complete absence of a recognizable cerebellar vermis. Subsets of patients also have other brain malformations such
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::37cfed5b9b3b24ae33d268168efd17f0
https://europepmc.org/articles/PMC6540982/
https://europepmc.org/articles/PMC6540982/
Autor:
Deborah A. Nickerson, Yong-Han H. Cheng, Talal AlAnzi, Matthias Gesemann, Tamara D.S. Rusterholz, Ranad Shaheen, Ruxandra Bachmann-Gagescu, Michael J. Bamshad, Ian G. Phelps, Megan E. Grout, Arif O. Khan, Kimberly A. Aldinger, Julie C. Van De Weghe, Stephan C.F. Neuhauss, Rifaat Rawashdeh, Jennifer C. Dempsey, Ronald Roepman, Fowzan S. Alkuraya, Sateesh Maddirevula, Dan Doherty, Himanshu Goel, Brooke L. Latour, Ohad S. Birk, William B. Dobyns
Publikováno v:
American Journal of Human Genetics, 101, 23-36
American Journal of Human Genetics, 101, 1, pp. 23-36
American Journal of Human Genetics, 101, 1, pp. 23-36
Item does not contain fulltext Joubert syndrome (JS) is a recessive neurodevelopmental disorder characterized by hypotonia, ataxia, abnormal eye movements, and variable cognitive impairment. It is defined by a distinctive brain malformation known as
Autor:
Christine R. Isabella, Hannah M. Tully, Dan Doherty, Ian G. Phelps, Ruxandra Bachmann-Gagescu, Megan E. Grout, Jennifer C. Dempsey
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics
PurposeNext-generation sequencing (NGS) often identifies multiple rare predicted-deleterious variants (RDVs) in different genes associated with a recessive disorder in a given patient. Such variants have been proposed to contribute to digenicity/olig
Publikováno v:
Eom, Dae Seok; Bain, Emily J; Patterson, Larissa B; Grout, Megan E; & Parichy, David M. (2015). Long-distance communication by specialized cellular projections during pigment pattern development and evolution. ELIFE, 4. doi: 10.7554/eLife.12401. UC Irvine: Retrieved from: http://www.escholarship.org/uc/item/63k0j2wc
eLife, Vol 4 (2015)
eLife
eLife, Vol 4 (2015)
eLife
Animals have very different patterns of skin pigmentation, and these patterns can be important for survival and reproduction. Zebrafish, for example, have horizontal dark and light stripes along their bodies, while a closely related fish called the p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3532bdf624582b143b4b291124001781
http://www.escholarship.org/uc/item/63k0j2wc
http://www.escholarship.org/uc/item/63k0j2wc