Search Results - "Pearce, David"

The history of the international rare diseases research consortium (IRDiRC) and its conferences by Pearce, David A.

“…Individual researchers and consortia have been studying rare diseases for several decades. However, the rare disease community can be very fragmented mainly…”
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Nonsense-mediated decay in genetic disease: Friend or foe? by Miller, Jake N., Pearce, David A.

“…Eukaryotic cells utilize various RNA quality control mechanisms to ensure high fidelity of gene expression, thus protecting against the accumulation of…”
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Regulation of the epithelial Na+ channel by the mTORC2/SGK1 pathway by Lang, Florian, Pearce, David

“…The epithelial Na(+) channel (ENaC) is decisive for sodium reabsorption by the aldosterone-sensitive distal nephron (ASDN) of the kidney. ENaC is regulated by…”
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Demystifying gene(tic) therapies by Chan, Chun-Hung, Pearce, David A.

“…This article summarizes the discussion from a session entitled “Demystifying gene therapies” that was held at the joint RE(ACT) congress and IRDiRC conference,…”
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Microbial diversity and biogeography in Arctic soils by Malard, Lucie A., Pearce, David A.

“…Summary Microorganisms dominate terrestrial environments in the polar regions and Arctic soils are known to harbour significant microbial diversity, far more…”
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Erasing stigma around rare diseases by Pearce, David A, Baynam, Gareth

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Therapeutic landscape for Batten disease: current treatments and future prospects by Johnson, Tyler B., Cain, Jacob T., White, Katherine A., Ramirez-Montealegre, Denia, Pearce, David A., Weimer, Jill M.

“…Batten disease (also known as neuronal ceroid lipofuscinoses) constitutes a family of devastating lysosomal storage disorders that collectively represent the…”
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Cell biology of the NCL proteins: What they do and don't do by Cárcel-Trullols, Jaime, Kovács, Attila D., Pearce, David A.

“…The fatal, primarily childhood neurodegenerative disorders, neuronal ceroid lipofuscinoses (NCLs), are currently associated with mutations in 13 genes. The…”
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Biogeographical patterns in soil bacterial communities across the Arctic region by Malard, Lucie A, Anwar, Muhammad Z, Jacobsen, Carsten S, Pearce, David A

“…ABSTRACT The considerable microbial diversity of soils and key role in biogeochemical cycling have led to growing interest in their global distribution and the…”
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Bacteria in the lakes of the Tibetan Plateau and polar regions by Liu, Keshao, Yao, Tandong, Pearce, David A., Jiao, Nianzhi, Zeng, Yonghui, Guo, Bixi, Liu, Yongqin

“…The Tibetan Plateau, also termed ‘the Third Pole’ harbors the largest number of high-altitude lakes in the world. Due to the presence of extreme conditions…”
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Bacterial Colonisation: From Airborne Dispersal to Integration Within the Soil Community by Malard, Lucie A, Pearce, David A

“…The deposition of airborne microorganisms into new ecosystems is the first stage of colonisation. However, how and under what circumstances deposited…”
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Verifying Whiley Programs with Boogie by Pearce, David J., Utting, Mark, Groves, Lindsay

“…The quest to develop increasingly sophisticated verification systems continues unabated. Tools such as Dafny, Spec#, ESC/Java, SPARK Ada and Whiley attempt to…”
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A DYNAMIC REINTERPRETATION OF NASH BARGAINING WITH ENDOGENOUS THREATS by Abreu, Dilip, Pearce, David

“…This paper concerns the two-stage game introduced in Nash (1953). It formalizes a suggestion made (but not pursued) by Nash regarding equilibrium selection in…”
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Distinguishing attributes of high-growth ventures by Pearce, David D., Pearce, John A.

“…Since the late 1990s, executives have been warned that explosive company growth is essential to producing superior financial performance. For executives who…”
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Regulation of distal tubule sodium transport: mechanisms and roles in homeostasis and pathophysiology by Pearce, David, Manis, Anna D., Nesterov, Viatcheslav, Korbmacher, Christoph

“…Regulated Na + transport in the distal nephron is of fundamental importance to fluid and electrolyte homeostasis. Further upstream, Na + is the principal…”
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Interpreting unusual imagery: a rare rock art depiction of a bushbuck in the southeastern mountains of South Africa by Pearce, David G.

“…A rare, painted depiction of a bushbuck (Tragelaphus scriptus) is reported from the Drakensberg Mountains of the Eastern Cape Province, South Africa. The…”
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Evaluation of DNA yield from various tissue and sampling sources for use in single nucleotide polymorphism panels by Pearce, David L., Edson, Jessie E., Jennelle, Chris S., Walter, W. David

“…Genetics studies are used by wildlife managers and researchers to gain inference into a population of a species of interest. To gain these insights,…”
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Access in the rare diseases landscape by Jonker, Anneliene H, Cavaller-Bellaubi, Maria, Nishimura, Yukiko, Pearce, David A

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The acidified drinking water-induced changes in the behavior and gut microbiota of wild-type mice depend on the acidification mode by Whipple, Brandon, Agar, Jennifer, Zhao, Jing, Pearce, David A., Kovács, Attila D.

“…Acidification of drinking water to a pH between 2.5 and 3.0 is widely used to prevent the spread of bacterial diseases in animal colonies. Besides hydrochloric…”
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Trait analysis in a population of the Greater Butterfly-orchid observed through a 16-year period by Bateman, Richard M., Stott, Katherine M., Pearce, David F.

“…A large English population of the temperate tuberous Greater Butterfly-orchid, Platanthera chlorantha , was monitored through a 16-year period. Each June the…”
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