Zobrazeno 1 - 10
of 349
pro vyhledávání: '"Stephen P, Robertson"'
Autor:
Sadegheh Haghshenas, Hidde J. Bout, Josephine M. Schijns, Michael A. Levy, Jennifer Kerkhof, Pratibha Bhai, Haley McConkey, Zandra A. Jenkins, Ella M. Williams, Benjamin J. Halliday, Sylvia A. Huisman, Peter Lauffer, Vivian de Waard, Laura Witteveen, Siddharth Banka, Angela F. Brady, Elena Galazzi, Julien van Gils, Anna C.E. Hurst, Frank J. Kaiser, Didier Lacombe, Antonio F. Martinez-Monseny, Patricia Fergelot, Fabíola P. Monteiro, Ilaria Parenti, Luca Persani, Fernando Santos-Simarro, Brittany N. Simpson, Mariëlle Alders, Stephen P. Robertson, Bekim Sadikovic, Leonie A. Menke
Publikováno v:
HGG Advances, Vol 5, Iss 4, Pp 100337- (2024)
Externí odkaz:
https://doaj.org/article/517d9e08a39d40259779aac3fa7232af
Metformin rescues migratory deficits of cells derived from patients with periventricular heterotopia
Autor:
Cedric Bressan, Marta Snapyan, Marina Snapyan, Johannes Klaus, Francesco diMatteo, Stephen P Robertson, Barbara Treutlein, Martin Parent, Silvia Cappello, Armen Saghatelyan
Publikováno v:
EMBO Molecular Medicine, Vol 15, Iss 10, Pp n/a-n/a (2023)
Abstract Periventricular neuronal heterotopia (PH) is one of the most common forms of cortical malformation in the human cortex. We show that human neuronal progenitor cells (hNPCs) derived from PH patients with a DCHS1 or FAT4 mutation as well as is
Externí odkaz:
https://doaj.org/article/483f0acdbe1542c6be59dca176929910
Publikováno v:
PeerJ, Vol 11, p e15740 (2023)
Reason for doing the work Plant biomass is a commonly used metric to assess agricultural health and productivity. Removing plant material is the most accurate method to estimate plant biomass, but this approach is time consuming, labor intensive, and
Externí odkaz:
https://doaj.org/article/39058f80adfe4834af194b67ef14349f
Autor:
Emma M. Wade, Elizabeth A. Goodin, Yongqiang Wang, Tim Morgan, Karen E. Callon, Maureen Watson, Philip B. Daniel, Jillian Cornish, Christopher A. McCulloch, Stephen P. Robertson
Publikováno v:
Bone Reports, Vol 18, Iss , Pp 101668- (2023)
Mutations in FLNA, which encodes the cytoskeletal protein FLNA, cause a spectrum of sclerosing skeletal dysplasias. Although many of these genetic variants are recurrent and cluster within the gene, the pathogenic mechanism that underpins the develop
Externí odkaz:
https://doaj.org/article/e1d3a0ee7c5846fd9b88d82042cd0969
Autor:
Jennifer Zieba, Kimberly N. Forlenza, Kelly Heard, Jorge H. Martin, Michaela Bosakova, Daniel H. Cohn, Stephen P. Robertson, Pavel Krejci, Deborah Krakow
Publikováno v:
Bone Research, Vol 10, Iss 1, Pp 1-12 (2022)
Abstract Spondylocarpotarsal syndrome (SCT) is a rare musculoskeletal disorder characterized by short stature and vertebral, carpal, and tarsal fusions resulting from biallelic nonsense mutations in the gene encoding filamin B (FLNB). Utilizing a FLN
Externí odkaz:
https://doaj.org/article/2c85424b96dc4b149215266a597c829b
Extracellular LGALS3BP regulates neural progenitor position and relates to human cortical complexity
Autor:
Christina Kyrousi, Adam C. O’Neill, Agnieska Brazovskaja, Zhisong He, Pavel Kielkowski, Laure Coquand, Rossella Di Giaimo, Pierpaolo D’ Andrea, Alexander Belka, Andrea Forero Echeverry, Davide Mei, Matteo Lenge, Cristiana Cruceanu, Isabel Y. Buchsbaum, Shahryar Khattak, Guimiot Fabien, Elisabeth Binder, Frances Elmslie, Renzo Guerrini, Alexandre D. Baffet, Stephan A. Sieber, Barbara Treutlein, Stephen P. Robertson, Silvia Cappello
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-22 (2021)
Basal progenitors are enriched in gyrencephalic species like humans contributing to neuronal expansion. Here the authors show that LGALS3BP de novo variants are related to reduced cortical complexity and area in humans and that LGALS3BP regulates neu
Externí odkaz:
https://doaj.org/article/8ef84fb2a10e47ca9c3467c7a2d8e981
Publikováno v:
Endocrinology, Diabetes & Metabolism Case Reports, Vol 1, Iss 1, Pp 1-5 (2019)
Cantu syndrome, or hypertrichotic osteochondrodysplasia, is a rare, autosomal dominant genetically heterogeneous disorder. It is characterized by hypertrichosis, cardiac and skeletal anomalies and distinctive coarse facial features. We report a case
Externí odkaz:
https://doaj.org/article/ee8a45572b9e4043b254c4d99eb8d93a
Autor:
Sheila Unger, Carlos R. Ferreira, Geert R. Mortier, Houda Ali, Débora R. Bertola, Alistair Calder, Daniel H. Cohn, Valerie Cormier‐Daire, Katta M. Girisha, Christine Hall, Deborah Krakow, Outi Makitie, Stefan Mundlos, Gen Nishimura, Stephen P. Robertson, Ravi Savarirayan, David Sillence, Marleen Simon, V. Reid Sutton, Matthew L. Warman, Andrea Superti‐Furga
Publikováno v:
American Journal of Medical Genetics Part A. 191:1164-1209
ispartof: AMERICAN JOURNAL OF MEDICAL GENETICS PART A status: Published online
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b5b2aee4ca9842fa7a86142459840bbe
https://doi.org/10.1002/ajmg.a.63132
https://doi.org/10.1002/ajmg.a.63132
Autor:
Sophia R. Cameron-Christie, Justin Wilde, Andrew Gray, Rick Tankard, Melanie Bahlo, David Markie, Helen M. Evans, Stephen P. Robertson
Publikováno v:
BMC Medical Genomics, Vol 11, Iss 1, Pp 1-13 (2018)
Abstract Background Biliary atresia (BA), a fibrosing disorder of the developing biliary tract leading to liver failure in infancy, has an elevated incidence in indigenous New Zealand (NZ) Māori. We investigated a high rate of BA in a group of child
Externí odkaz:
https://doaj.org/article/436c2a063e124801918e23593d59fa54
Autor:
Thomas Lind, Roberta Lugano, Ann-Marie Gustafson, Maria Norgård, Arie van Haeringen, Anna Dimberg, Håkan Melhus, Stephen P. Robertson, Göran Andersson
Publikováno v:
Bone Reports, Vol 9, Iss , Pp 27-36 (2018)
Angulated femurs are present prenatally both in CYP26B1 deficient humans with a reduced capacity to degrade retinoic acid (RA, the active metabolite of vitamin A), and mice overexpressing vascular endothelial growth factor a (Vegfa). Since excessive
Externí odkaz:
https://doaj.org/article/e921980d7dc6419ab3fd477d660b6150