Results 181 to 190 of about 3,001,295 (296)

MeCP2 gene dosage-dependent neurodevelopmentally restricted defects arise by aberrant activation of cell fate-determining bivalent genes. [PDF]

Nat Commun
Luoni M, Kubacki M, Giannelli SG, Morosi F, Di Berardino C, Iannielli A, Sessa A, Colasante G, Di Patrizio Soldateschi E, Lanzuolo C, Broccoli V.   +10 more
europepmc   +1 more source

Onasemnogene Abeparvovec in Patients With SMA: Interim Results of the RESTORE Registry in Japan

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective There are limited real‐world data regarding the safety and effectiveness of onasemnogene abeparvovec (OA; Zolgensma) infusion, a one‐time gene replacement therapy, for Japanese patients with spinal muscular atrophy (SMA). We aimed to improve understanding of the real‐world outcomes for OA in Japan.
Kayoko Saito, Kamal Benguerba, Ken Tsuchida, Kazushige Yazawa, Isao Tsumiyama, Hiromitsu Kayama, Sandra P. Reyna, Farid Khan, Richard S. Finkel   +8 more
wiley   +1 more source

GENE DOSAGE AND GALACTOSE UTILIZATION BY SACCHAROMYCES TETRAPLOIDS [PDF]

Genetics, 1963
N M, NELSON, H C, DOUGLAS
openaire   +2 more sources

Gene dosage effects of 22q11.2 copy number variants on in-vivo measures of white matter axonal density and dispersion. [PDF]

Mol Psychiatry
Boen R, Villalón-Reina JE, Kushan L, O'Hora KP, Fung H, Parker N, Akkouh IA, Alnæs D, O'Hara R, Marzelli MJ, Foland-Ross L, Chick CF, Cotto I, Reiss AL, Hallmayer J, Thompson PM, Andreassen OA, Sønderby IE, Bearden CE.   +18 more
europepmc   +1 more source

TCF3 haploinsufficiency defined by immune, clinical, gene-dosage, and murine studies. [PDF]

J Allergy Clin Immunol, 2023
Boast B, Goel S, González-Granado LI, Niemela J, Stoddard J, Edwards ESJ, Seneviratne S, Spensberger D, Quesada-Espinosa JF, Allende LM, McDonnell J, Haseley A, Lesmana H, Walkiewicz MA, Muhammad E, Bosco JJ, Fleisher TA, Cohen S, Holland SM, van Zelm MC, Enders A, Kuehn HS, Rosenzweig SD.   +22 more
europepmc   +1 more source

White Matter Microstructural Abnormalities in Neonatal Onset Genetic Epilepsy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Recent evidence indicates that epilepsy is associated with abnormal white matter. If seizures alter white matter, then the impact upon network function, epileptogenesis, and cognition could be pronounced in neonates undergoing rapid developmental myelination. Neonates with epilepsy due to nonstructural genetic causes provide a unique
Amanda G. Sandoval Karamian, Tianjia Zhu, Hao Huang, Shavonne L. Massey, Mark P. Fitzgerald, Darshana Parikh, Arastoo Vossough, Ingo Helbig, Nicholas S. Abend   +8 more
wiley   +1 more source

<i>Fgf10</i> Gene Dosage from a Single Allele Is Insufficient for Forming Multilayered Epithelial Cells in the Murine Lacrimal Gland. [PDF]

Int J Mol Sci
Ikeda S, Sato K, Tajika Y, Fujita H, Bando T, Nohno T, Miyaishi S, Ohuchi H.   +7 more
europepmc   +1 more source

No Transcriptional Compensation for Extreme Gene Dosage Imbalance in Fragmented Bacterial Endosymbionts of Cicadas. [PDF]

Genome Biol Evol, 2023
Spencer N, Łukasik P, Meyer M, Veloso C, McCutcheon JP.   +4 more
europepmc   +1 more source

Predictive Value of Composite Inflammatory Markers for Stroke Prognosis: A Prospective Cohort Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Novel composite inflammatory markers' role in stroke prognosis is understudied, and the best predictor is unclear, requiring further exploration. Objectives This study aimed to systematically evaluate the associations of 6 novel composite inflammatory markers on stroke prognosis.
Bing Wu, Jie‐Jie Li, Jing Jing, Jin‐Xi Lin, Xia Meng, Yong Jiang, Yong‐Jun Wang, Hong‐Qiu Gu   +7 more
wiley   +1 more source

Gene dosage and protein valency impact phase separation and fungal cell fate. [PDF]

PLoS Genet
Ganser C, He P, Frazer C, Krysan DJ, Bennett RJ.   +4 more
europepmc   +1 more source