Zobrazeno 1 - 10
of 26
pro vyhledávání: '"Lorida Llaci"'
Autor:
Eric Frankel, Avijit Podder, Megan Sharifi, Roshan Pillai, Newell Belnap, Keri Ramsey, Julius Dodson, Pooja Venugopal, Molly Brzezinski, Lorida Llaci, Brittany Gerald, Gabrielle Mills, Meredith Sanchez-Castillo, Chris D. Balak, Szabolcs Szelinger, Wayne M. Jepsen, Ashley L. Siniard, Ryan Richholt, Marcus Naymik, Isabelle Schrauwen, David W. Craig, Ignazio S. Piras, Matthew J. Huentelman, Nicholas J. Schork, Vinodh Narayanan, Sampathkumar Rangasamy
Publikováno v:
Cells, Vol 12, Iss 10, p 1437 (2023)
Mutations of the X-linked gene encoding methyl-CpG-binding protein 2 (MECP2) cause classical forms of Rett syndrome (RTT) in girls. A subset of patients who are recognized to have an overlapping neurological phenotype with RTT but are lacking a mutat
Externí odkaz:
https://doaj.org/article/20acec46706042719162109c33744bd6
Autor:
Kristina Sakers, Yating Liu, Lorida Llaci, Scott M. Lee, Michael J. Vasek, Michael A. Rieger, Sean Brophy, Eric Tycksen, Renate Lewis, Susan E. Maloney, Joseph D. Dougherty
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-14 (2021)
Quaking RNA binding protein (QKI) is known for its role in oligodendrocyte maturation. Here, the authors define the QKI targets in the mouse brain and show that loss of QKI disrupts the expression of cell maturation-associated genes in astrocytes in
Externí odkaz:
https://doaj.org/article/4e48d16143194a59a45f452f5de15b87
Autor:
Ignazio S. Piras, Christiane Bleul, Isabelle Schrauwen, Joshua Talboom, Lorida Llaci, Matthew D. De Both, Marcus A. Naymik, Glenda Halliday, Conceicao Bettencourt, Janice L. Holton, Geidy E. Serrano, Lucia I. Sue, Thomas G. Beach, Nadia Stefanova, Matthew J. Huentelman
Publikováno v:
Acta Neuropathologica Communications, Vol 8, Iss 1, Pp 1-20 (2020)
Abstract Multiple system atrophy (MSA) is a rare adult-onset neurodegenerative disease of unknown cause, with no effective therapeutic options, and no cure. Limited work to date has attempted to characterize the transcriptional changes associated wit
Externí odkaz:
https://doaj.org/article/802f2088948d4fdeaa8617526511b565
Autor:
Elina Kari, Lorida Llaci, John L. Go, Marcus Naymik, James A. Knowles, Suzanne M. Leal, Sampath Rangasamy, Matthew J. Huentelman, Rick A. Friedman, Isabelle Schrauwen
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 7, Iss 12, Pp n/a-n/a (2019)
Abstract Background Childhood hearing impairment affects language and cognitive development. Profound congenital sensorineural hearing impairment can be due to an abnormal cochleovestibular nerve (CVN) and cochleovestibular malformations, however, th
Externí odkaz:
https://doaj.org/article/9b80457c15074a4ebf1c72b9e4f78736
Autor:
Glenn S. Gerhard, Ivana Malenica, Lorida Llaci, Xin Chu, Anthony T. Petrick, Christopher D. Still, Johanna K. DiStefano
Publikováno v:
Clinical Epigenetics, Vol 10, Iss 1, Pp 1-9 (2018)
Abstract Altered DNA methylation events contribute to the pathogenesis and progression of metabolic disorders, including nonalcoholic fatty liver disease (NAFLD). Investigations of global DNA methylation patterns in liver biopsies representing severe
Externí odkaz:
https://doaj.org/article/f830017fc9df469fad54b8c859e09386
Publikováno v:
Neuro-Oncology. 24:vii120-vii121
Males have a higher incidence and mortality in certain cancers compared to females. The same is true in glioblastoma (GBM) regardless of age, suggesting that cell-intrinsic factors rather than extrinsic factors such as circulating sex hormones are ca
Autor:
Conceição Bettencourt, Marcus Naymik, Glenda M. Halliday, Nadia Stefanova, Christiane Bleul, Matthew D. De Both, Lorida Llaci, Isabelle Schrauwen, Matthew J. Huentelman, Joshua S. Talboom, Geidy E. Serrano, Thomas G. Beach, Janice L. Holton, Lucia I. Sue, Ignazio S. Piras
Publikováno v:
Acta Neuropathologica Communications, Vol 8, Iss 1, Pp 1-20 (2020)
Acta Neuropathologica Communications
Acta Neuropathologica Communications
Multiple system atrophy (MSA) is a rare adult-onset neurodegenerative disease of unknown cause, with no effective therapeutic options, and no cure. Limited work to date has attempted to characterize the transcriptional changes associated with the dis
Autor:
Rick A. Friedman, Lorida Llaci, Marcus Naymik, Elina Kari, Suzanne M. Leal, John L. Go, Isabelle Schrauwen, Winnie S. Liang, James A. Knowles, Matthew J. Huentelman, Sampath Rangasamy
Publikováno v:
Ear Hear
Objective A small subset of children with congenital hearing loss have abnormal cochleovestibular nerves (i.e., absent, aplastic, or deficient cochlear nerves), with largely unknown etiology. Our objective was to investigate the underlying pathways a
Autor:
Anni Saarela, Suzanne M. Leal, Juha Leppälä, Lorida Llaci, Minna Kankuri-Tammilehto, Anushree Acharya, Tuomo Määttä, Jennifer E. Posey, Diana M Cornejo-Sanchez, Irma Järvelä, James R. Lupski, Auli Siren, Ritva Paetau, Angad Jolly, Tarja Linnankivi, Shalini N. Jhangiani, Teppo Varilo, Jan Olme, Liz M Nouel-Saied, Trevor D. Hadley, Isabelle Schrauwen, Hannaleena Kokkonen, Reetta Kälviäinen, Maarit Palomäki, Mary Fang, Maria Arvio
Publikováno v:
Human Genetics
The genetics of autosomal recessive intellectual disability (ARID) has mainly been studied in consanguineous families, however, founder populations may also be of interest to study intellectual disability (ID) and the contribution of ARID. Here, we u
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c8475d41092b52fce48df5ff7c780b5d
https://trepo.tuni.fi/handle/10024/132380
https://trepo.tuni.fi/handle/10024/132380
Autor:
Sean Brophy, Scott M. Lee, Michael J. Vasek, Lorida Llaci, Renate M. Lewis, Joseph D. Dougherty, Susan E. Maloney, Yating Liu, Michael A. Rieger, Eric Tycksen, Kristina Sakers
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-14 (2021)
Nature Communications
Nature Communications
Quaking RNA binding protein (QKI) is essential for oligodendrocyte development as myelination requires myelin basic protein mRNA regulation and localization by the cytoplasmic isoforms (e.g., QKI-6). QKI-6 is also highly expressed in astrocytes, whic