Results 11 to 20 of about 251,897 (214)

Brain region and gene dosage-differential transcriptomic changes in Shank2-mutant mice

Frontiers in Molecular Neuroscience, 2022
Shank2 is an abundant excitatory postsynaptic scaffolding protein that has been implicated in various neurodevelopmental and psychiatric disorders, including autism spectrum disorder (ASD), intellectual disability, attention-deficit/hyperactivity ...
Ye-Eun Yoo, Taesun Yoo, Hyojin Kang, Eunjoon Kim, Eunjoon Kim   +4 more
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A History of the Discovery of Random X Chromosome Inactivation in the Human Female and its Significance

Rambam Maimonides Medical Journal, 2011
Genetic determinants of sex in placental mammals developed by the evolution of primordial autosomes into the male and female sex chromosomes. The Y chromosome determines maleness by the action of the gene SRY, which encodes a protein that initiates a ...
Sophia Balderman, Marshall A. Lichtman
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FOXG1 Dose in Brain Development

Frontiers in Pediatrics, 2019
Brain development is a highly regulated process that involves the precise spatio-temporal activation of cell signaling cues. Transcription factors play an integral role in this process by relaying information from external signaling cues to the genome ...
Nuwan C. Hettige, Nuwan C. Hettige, Carl Ernst, Carl Ernst, Carl Ernst, Carl Ernst   +5 more
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Genetic Analysis of RAB39B in an Early-Onset Parkinson's Disease Cohort

Frontiers in Neurology, 2020
Pathogenic variants in the gene encoding RAB39B, resulting in the loss of protein function, lead to the development of X-linked early-onset parkinsonism.
Yujing Gao, Yujing Gao, Gabrielle R. Wilson, Gabrielle R. Wilson, Nicholas Salce, Alexandra Romano, George D. Mellick, Sarah E. M. Stephenson, Sarah E. M. Stephenson, Paul J. Lockhart, Paul J. Lockhart   +10 more
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Combination of Genetic Manipulation Improved Saccharomycopsis fibuligera α-Amylase Secretion by Pichia pastoris

Indonesian Journal of Chemistry, 2019
This study assessed the combinations of genetic manipulation; signal peptide modification, gene dosage increment and co-expression of folding component, to increase Saccharomycopsis fibuligera R64 α-amylase (Sfamy) secretion in Pichia pastoris.
Shabarni Gaffar, Dessy Natalia, Toto Subroto, Oo Suprijana, Soetijoso Soemitro   +4 more
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Gene dosage effects of poly(A) track-engineered hypomorphs

Molecular Therapy: Nucleic Acids, 2021
Manipulation of gene activity through creation of hypomorphic mutants has been a long-standing tool in examining gene function. Our previous studies have indicated that hypomorphic mutants could be created by inserting cis-regulatory sequences composed ...
Geralle Powell, Slavica Pavlovic Djuranovic, Sergej Djuranovic   +2 more
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Transfer learning reveals sequence determinants of the quantitative response to transcription factor dosage

Cell Genomics
Summary: Deep learning models have advanced our ability to predict cell-type-specific chromatin patterns from transcription factor (TF) binding motifs, but their application to perturbed contexts remains limited.
Sahin Naqvi, Seungsoo Kim, Saman Tabatabaee, Anusri Pampari, Anshul Kundaje, Jonathan K. Pritchard, Joanna Wysocka   +6 more
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Multiple strategies were adopted to optimize the enzymatic characteristics and improve the expression of bovine chymosin BtChy in Kluyveromyces lactis for cheese production

Frontiers in Microbiology
Chymosin (EC3.4.23.4), primarily sourced from calf abomasum, serves as a conventional coagulant in milk curdling during cheese production. To improve the enzymatic properties and enhance the expression of calf chymosin (BtChy) in Kluyveromyces lactis to ...
Ying Han, Liu-Qun Zhang, De-Ming Rao, Lei Lei, Jiang-Ke Yang   +4 more
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Modulation of Aneuploidy in Leishmania donovani during Adaptation to Different In Vitro and In Vivo Environments and Its Impact on Gene Expression

mBio, 2017
Aneuploidy is usually deleterious in multicellular organisms but appears to be tolerated and potentially beneficial in unicellular organisms, including pathogens. Leishmania, a major protozoan parasite, is emerging as a new model for aneuploidy, since in
F. Dumetz, H. Imamura, M. Sanders, V. Seblova, J. Myskova, P. Pescher, M. Vanaerschot, C. J. Meehan, B. Cuypers, G. De Muylder, G. F. Späth, G. Bussotti, J. R. Vermeesch, M. Berriman, J. A. Cotton, P. Volf, J. C. Dujardin, M. A. Domagalska   +17 more
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Rare dosage abnormalities flanking the SHOX gene

Egyptian Journal of Medical Human Genetics, 2021
Background Transcriptional regulation of the SHOX gene is highly complex. Much of our understanding has come from the study of copy number changes of conserved non-coding sequences both upstream and downstream of the gene.
David J. Bunyan, Evelien Gevers, James I. Hobbs, Philippa J. Duncan-Flavell, Rachel J. Howarth, Muriel Holder-Espinasse, Philippe Klee, Roxane Van-Heurk, Laure Lemmens, Maria Teresa Carminho-Rodrigues, Zainaba Mohamed, Aruna Goturu, Claire R. Hughes, Michal Ajzensztejn, N. Simon Thomas   +14 more
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