Thematische Bibliographien / O'roarke

Auswahl der wissenschaftlichen Literatur zum Thema „O'roarke“

Autor: Grafiati
Veröffentlicht am 25. Juli 2024
Zuletzt aktualisiert am 31. Juli 2024

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Zeitschriftenartikel zum Thema "O'roarke"

1

Stevenson, Deborah. „The Class by Frances O'Roark Dowell“. Bulletin of the Center for Children's Books 73, Nr. 2 (2019): 63. http://dx.doi.org/10.1353/bcc.2019.0648.

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2

Stevenson, Deborah. „Sam the Man & the Dragon Van Plan by Frances O'Roark Dowell“. Bulletin of the Center for Children's Books 71, Nr. 6 (2018): 246. http://dx.doi.org/10.1353/bcc.2018.0096.

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3

Stevenson, Deborah. „The Sound of Your Voice, Only Really Far Away by Frances O'Roark Dowell“. Bulletin of the Center for Children's Books 67, Nr. 1 (2013): 14–15. http://dx.doi.org/10.1353/bcc.2013.0579.

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4

Stevenson, Deborah. „How to Build a Story … or, the Big What If by Frances O'Roark Dowell“. Bulletin of the Center for Children's Books 73, Nr. 11 (2020): 470. http://dx.doi.org/10.1353/bcc.2020.0449.

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5

Fang, Liang, Dimin Li und Paul A. Welling. „Hypertension resistance polymorphisms in ROMK (Kir1.1) alter channel function by different mechanisms“. American Journal of Physiology-Renal Physiology 299, Nr. 6 (Dezember 2010): F1359—F1364. http://dx.doi.org/10.1152/ajprenal.00257.2010.

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The renal outer medullary K+ (ROMK) channel plays a critical role in renal sodium handling. Recent genome sequencing efforts in the Framingham Heart Study offspring cohort (Ji W, Foo JN, O'Roak BJ, Zhao H, Larson MG, Simon DB, Newton-Cheh C, State MW, Levy D, and Lifton RP. Nat Genet 40: 592–599, 2008) recently revealed an association between suspected loss-of-function polymorphisms in the ROMK channel and resistance to hypertension, suggesting that ROMK activity may also be a determinant of blood pressure control in the general population. Here we examine whether these sequence variants do, in fact, alter ROMK channel function and explore the mechanisms. As assessed by two-microelectrode voltage clamp in Xenopus oocytes, 3/5 of the variants (R193P, H251Y, and T313FS) displayed an almost complete attenuation of whole cell ROMK channel activity. Surface antibody binding measurements of external epitope-tagged channels and analysis of glycosylation-state maturation revealed that these variants prevent channel expression at the plasmalemma, likely as a consequence of retention in the endoplasmic reticulum. The other variants (P166S, R169H) had no obvious effects on the basal channel activity or surface expression but, instead, conferred a gain in regulated-inhibitory gating. As assessed in giant excised patch-clamp studies, apparent phosphotidylinositol 4,5-bisphosphate (PIP2) binding affinity of the variants was reduced, causing channels to be more susceptible to inhibition upon PIP2 depletion. Unlike the protein product of the major ROMK allele, these two variants are sensitive to the inhibitory affects of a G protein-coupled receptor, which stimulates PIP2 hydrolysis. In summary, we have found that hypertension resistance sequence variants inhibit ROMK channel function by different mechanisms, providing new insights into the role of the channel in the maintenance of blood pressure.
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6

Monette, Michelle Y., Jesse Rinehart, Richard P. Lifton und Biff Forbush. „Rare mutations in the human Na-K-Cl cotransporter (NKCC2) associated with lower blood pressure exhibit impaired processing and transport function“. American Journal of Physiology-Renal Physiology 300, Nr. 4 (April 2011): F840—F847. http://dx.doi.org/10.1152/ajprenal.00552.2010.

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The Na-K-Cl cotransporter (NKCC2) is the major salt transport pathway in the thick ascending limb of Henle's loop and is part of the molecular mechanism for blood pressure regulation. Recent screening of ∼3,000 members of the Framingham Heart Study identified nine rare independent mutations in the gene encoding NKCC2 (SLC12A1) associated with clinically reduced blood pressure and protection from hypertension (Ji WZ, Foo JN, O'Roak BJ, Zhao H, Larson MG, Simon DB, Newton-Cheh C, State M, Levy D, Lifton RP. Nat Genet 40: 592–599, 2008). To investigate their functional consequences, we introduced the nine mutations in human NKCC2A and examined protein function, expression, localization, regulation, and ion transport kinetics using heterologous expression in Xenopus laevis oocytes and HEK-293 cells. When expressed in oocytes, four of the mutants (T235M, R302W, L505V, and P569H) exhibited reduced transport function compared with wild-type. In HEK-293 cells, the same four mutants exhibited reduced function, and in addition N399S and P1083A had significantly lower activity than wild-type. The two most functionally impaired mutants (R302W and L505V) exhibited dramatically diminished production of complex-glycosylated protein and a decrease in or absence of plasma membrane localization, indicative of a processing defect. All of the functional human (h) NKCC2A variants were regulated by changes in oocyte volume and intracellular chloride in HEK cells, but P254A and N399S exhibited a lower constitutive activity in HEK cells. The P569H mutant exhibited a 50% reduction in sodium affinity compared with wild-type, predicting lower transport activity at lower intratubular salt concentrations, while the P254A mutant exhibited a 35% increase in rubidium affinity. We conclude that defects in NKCC2 processing, transport turnover rate, regulation, and ion affinity contribute to impaired transport function in six of the nine identified mutants, providing support for the predictive approach of Ji et al. to identify functionally important residues by sequence conservation. Such mutations in hNKCC2A are likely to reduce renal salt reabsorption, providing a mechanism for lower blood pressure.
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7

Celen, Cemre, Jen-Chieh Chuang, Xin Luo, Nadine Nijem, Angela K. Walker, Fei Chen, Shuyuan Zhang et al. „Arid1b haploinsufficient mice reveal neuropsychiatric phenotypes and reversible causes of growth impairment“. eLife 6 (11.07.2017). http://dx.doi.org/10.7554/elife.25730.

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Sequencing studies have implicated haploinsufficiency of ARID1B, a SWI/SNF chromatin-remodeling subunit, in short stature (Yu et al., 2015), autism spectrum disorder (O'Roak et al., 2012), intellectual disability (Deciphering Developmental Disorders Study, 2015), and corpus callosum agenesis (Halgren et al., 2012). In addition, ARID1B is the most common cause of Coffin-Siris syndrome, a developmental delay syndrome characterized by some of the above abnormalities (Santen et al., 2012; Tsurusaki et al., 2012; Wieczorek et al., 2013). We generated Arid1b heterozygous mice, which showed social behavior impairment, altered vocalization, anxiety-like behavior, neuroanatomical abnormalities, and growth impairment. In the brain, Arid1b haploinsufficiency resulted in changes in the expression of SWI/SNF-regulated genes implicated in neuropsychiatric disorders. A focus on reversible mechanisms identified Insulin-like growth factor (IGF1) deficiency with inadequate compensation by Growth hormone-releasing hormone (GHRH) and Growth hormone (GH), underappreciated findings in ARID1B patients. Therapeutically, GH supplementation was able to correct growth retardation and muscle weakness. This model functionally validates the involvement of ARID1B in human disorders, and allows mechanistic dissection of neurodevelopmental diseases linked to chromatin-remodeling.
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Bücher zum Thema "O'roarke"

1

Dentinger, Jane. Death mask: A Jocelyn O'Roarke mystery. New York, N.Y: Penguin Books, 1994.

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2

Dentinger, Jane. Death mask: A Jocelyn O'Roarke mystery. New York: Scribner's, 1988.

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3

Dentinger, Jane. First hit of the season. South Yarmouth, Ma: J. Curley & Associates, 1985.

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4

Armentrout, Georgie Carrier Early. Carrier-Carryer and allied lines: Lincoln, Harrison, Rhodes, Holsinger, Thomas, Bowman, Early, Summers, O'Roark, Phillips, and others. Baltimore (1001 N. Calvert St., Baltimore 21202): Gateway Press, 1985.

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5

o'Roarke Affair. Nancy Yost Literary Agency, 2024.

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6

Dentinger, Jane. Dead Pan: A Jocelyn O'Roarke Mystery. Viking Adult, 1992.

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7

Dead Pan: A Jocelyn O'Roarke Mystery. Penguin (Non-Classics), 1994.

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8

Kassy O'Roarke Pet Detective Activities Book. Kaos Press, 2020.

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9

Death mask: A Jocelyn O'Roarke mystery. New York, N.Y: Penguin Books, 1994.

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10

Dentinger, Jane. Murder on Cue (Jocelyn O'Roarke Mystery). Penguin (Non-Classics), 1992.

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