Functional genetics of cancer and congenital disorders by Zak, J

“…We further identify candidate pathogenic <em>TP53BP2</em> duplications, implicating <em>TP53BP2</em> dosage sensitivity in the ganglionic eminences of the developing brain, manifested by structural abnormalities in the striatum and lateral ventricles of both deletion and duplication patients. …”

Asymmetric syntheses of polyhydroxylated 1-hydroxymethylpyrrolizidines by Brambilla, M

“…</p> <p><b>Chapter 4</b> discusses studies into the aldol reaction of β-amino enolates derived from two differently substituted α,β-unsaturated esters culminating in the asymmetric syntheses of the four 1-hydroxymethyl-2-hydroxypyrrolizidines, (-)-macronecine, (-)-1-<em>epi</em>-macronecine, (-)-petasinecine and (-)-1-<em>epi</em>-petasinecine, and the 1-hydroxymethyl-2,7-dihydroxypyrrolizidine (-)-2-<em>epi</em>-rosmarinecine. …”

Spatial and subcellular gene expression patterns in myogenic differentiation and muscle pathology by Chwalenia, KM

“…Non-uniform dystrophin localisation along myofibres of <em>mdx52-XistΔhs</em> animals mirrors the pattern observed in CRISPR-Cas9-treated animals. …”

The Svanbergfjellet Formation: Eukaryotic life in a Tonian sea by Mughal, S, Millikin, AEG, Zhang, T, Gibson, TM, Rooney, AD, Tosca, NJ, Bergmann, KD, Strauss, JV, Anderson, RP

“…It notably preserves the green alga <em>Proterocladus</em> and the possible green alga <em>Palaeastrum</em>. …”

Cultural transmission of fitness in mathematical population genetics by Kvasznicza, I

“…Indeed, in the limit of infinite population size, the coalescent dual of our model converges weakly to a constant scaled <em>n</em>-coalescent.</p> <p>Second, we present results of numerical simulations of the extended Wright- Fisher model with strictly increasing weight sequences of the form <em>w</em> = (<em>j</em>^α), α &amp;GE; 0. …”

Increased chloroplast occupancy in bundle sheath cells of rice hap3H mutants revealed by Chloro-Count: a new deep learning–based tool by Lambret Frotte, J, Buarque de Gusmão, PP, Smith, G, Lo, S-F, Yu, S-M, Hendron, RW, Kelly, S, Langdale, JA

“…That mechanism is unperturbed in&nbsp;<em>Oshap3H</em>&nbsp;mutants but loss of&nbsp;<em>OsHAP3H</em>&nbsp;function leads to an increase in chloroplast numbers. …”

Engineering control of rhizobacteria for plant growth promotion by Green, PWL

“…The rhizopine system was used to demonstrate tight transcriptional control of the NifA master transcriptional regulator of <em>nif</em> genes for nitrogen fixation <em>in vitro</em>, thereby developing a rhizopine responsive diazotrophic strain which can be assayed for plant growth promotion on rhizopine producing barley lines. …”

Estimating parameter distributions and developing epidemiological methods and tools to support gastrointestinal outbreak investigation by Awofisayo-Okuyelu, A

“…</p> <p>I conducted systematic reviews on the incubation period of <em>Campylobacter</em>, STEC and <em>Salmonella</em> Typhi. …”

Functional integrity of visual coding following advanced photoreceptor degeneration by Rodgers, J, Hughes, S, Lindner, M, Allen, AE, Ebrahimi, AS, Storchi, R, Peirson, S, Lucas, RJ, Hankins, MW

“…The ReaChR-driven responses in <em>rd1</em> animals showed low photosensitivity, but in other respects generated a visual code that was very similar to the WT. …”

Targeting TFEB and TFE3 in iPSC-derived dopaminergic neurons to correct autophagic/lysosomal deficits in Parkinson's disease by McGuinness, W

“…Mutations in PD-related genes such as <em>GBA</em>, <em>LRRK2</em> and <em>SNCA</em> have all been implicated to present deficits in lysosomal catabolic pathways.…”

Indo-European youth priesthoods and the Männerbund theory: a study of the Vedic Vrātyas and their ancient Indo-European analogues by Elby, T

“…This study assesses the plausibility of a German ethnographic concept known as the <em>Männerbund</em>, a social institution among tribal societies, when applied to aspects of religion in ancient societies, particularly those of Greece, Germany, India, Iran, Ireland, Rome, and Scandinavia. …”

Fictions of youth: childness in selected West African novels, 1991-2009 by Moellenberg, T

“…A "child" here is defined as a human person under age 18 and is referred to using the term <em>childness</em>, drawing from the work of children's literature scholar Peter Hollindale. …”

Accelerating black objects and their holographic duals by Boido, A

“…In particular, these are AdS3 × <em>Y</em>7 solutions of type IIB supergravity, sourced by D3-branes, and AdS2×<em>Y</em>9 solutions of 11d supergravity, sourced by M2-branes. …”

Synthesis of furanocycloalkanes from furans and non-aromatic precursors by Li, S

“…<p>This thesis describes synthetic studies toward furano[<em>b</em>]cycloalkanes from both furans and nonaromatic ring systems, with the aim of establishing short and efficient synthetic methods from inexpensive starting materials.…”

Mobilizing bodies: unsettling sustainable mobility through cycling in Los Angeles by Davidson, AC

“…This dissertation considers cycling practices in Los Angeles as a 'case' to ask how <em>conceptions</em> of human bodies - the intertwined ideas and materials that constitute them –need reconsidering. …”

Characterization of ubiquitin-activated DNA-protein crosslink repair in vitro by Zhu, X

“…<p><strong><em>Introduction:</em></strong> DNA-Protein Crosslinks (DPCs) are a form of DNA damage caused by covalent attachment between proteins and DNA, which can lead to replication fork stalling, disruption of cell division, and ultimately cell death. …”

Subretinal timrepigene emparvovec in adult men with choroideremia: a randomized phase 3 trial by MacLaren, RE, Fischer, MD, Gow, JA, Lam, BL, Sankila, E-MK, Girach, A, Panda, S, Yoon, D, Zhao, G, Pennesi, ME

“…A randomized, masked, phase 3 clinical trial evaluated the safety and efficacy over 12&thinsp;months of follow-up in adult males with choroideremia randomized to receive a high-dose (1.0&thinsp;&times;&thinsp;10¹¹&nbsp;vector genomes (vg);&nbsp;<em>n</em>&thinsp;=&thinsp;69) or low-dose (1.0&thinsp;&times;&thinsp;10¹⁰&nbsp;vg;&nbsp;<em>n</em>&thinsp;=&thinsp;34) subretinal injection of the AAV2-vector-based gene therapy timrepigene emparvovec versus non-treated control (<em>n</em>&thinsp;=&thinsp;66). …”

DEWP: deep expansion learning for wind power forecasting by Fan, W, Fu, Y, Zheng, S, Bian, J, Zhou, Y, Xiong, H

“…To this end, we propose&nbsp;<em>DEWP</em>, a novel&nbsp;<em><span data-="">D</span>eep&nbsp;<span data-="">E</span>xpansion learning for&nbsp;<span data-="">W</span>ind&nbsp;<span data-="">P</span>ower forecasting</em>&nbsp;framework to carefully model the complicated dependencies with adequate expressiveness. …”

Pneumococcal genomics and evolution by van Tonder, A

“…<p><em>Streptococcus pneumoniae</em> (the “pneumococcus”) is a global pathogen responsible for nearly a million deaths each year in children under the age of five. …”

New measurements of neutrino oscillation parameters and development of novel interaction uncertainties at current and future long-baseline experiments by Holvey, T

“…<p>T2K is a long-baseline neutrino oscillation experiment designed to perform precision measurements of the neutrino oscillation parameters sin²θ₂₃, sin²θ₁₃, and ∆<em>m</em>²₃₂, as well as constrain the CP-violating phase δ_<em>CP</em>. …”