Publications by authors named "Ann Stepanchick"

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Large scale clinical exome sequencing uncovers the scope and severity of skin disorders associated with MC1R genetic variants.
Bryn S Moore, Jonathan Z Luo, Ann N Stepanchick, Tooraj Mirshahi

Genet Med· December 2021

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A Protein-Truncating HSD17B13 Variant and Protection from Chronic Liver Disease.
Noura S Abul-Husn, Xiping Cheng, Alexander H Li, Yurong Xin, Claudia Schurmann, Ann N Stepanchick

N Engl J Med· March 2018

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Cilia have high cAMP levels that are inhibited by Sonic Hedgehog-regulated calcium dynamics.
Bryn S Moore, Ann N Stepanchick, Paul H Tewson, Cassandra M Hartle, Jin Zhang

Proc Natl Acad Sci U S A· November 2016

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Long-term weight-loss in gastric bypass patients carrying melanocortin 4 receptor variants.
Bryn S Moore, Uyenlinh L Mirshahi, Evan A Yost, Ann N Stepanchick, Michael D Bedrin

PLoS One· June 2015

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DNA binding by the ribosomal DNA transcription factor rrn3 is essential for ribosomal DNA transcription.
Ann Stepanchick, Huijun Zhi, Alice H Cavanaugh, Katrina Rothblum, David A Schneider

J Biol Chem· March 2013

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Calcium signaling regulates trafficking of familial hypocalciuric hypercalcemia (FHH) mutants of the calcium sensing receptor.
Michael P Grant, Ann Stepanchick, Gerda E Breitwieser

Mol Endocrinol· December 2012

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Agonist-driven maturation and plasma membrane insertion of calcium-sensing receptors dynamically control signal amplitude.
Michael P Grant, Ann Stepanchick, Alice Cavanaugh, Gerda E Breitwieser

Sci Signal· November 2011

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Calcium sensing receptor mutations implicated in pancreatitis and idiopathic epilepsy syndrome disrupt an arginine-rich retention motif.
Ann Stepanchick, Jennifer McKenna, Olivia McGovern, Ying Huang, Gerda E Breitwieser

Cell Physiol Biochem· December 2010

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Calcium-sensing receptor biosynthesis includes a cotranslational conformational checkpoint and endoplasmic reticulum retention.
Alice Cavanaugh, Jennifer McKenna, Ann Stepanchick, Gerda E Breitwieser

J Biol Chem· June 2010

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The cargo receptor p24A facilitates calcium sensing receptor maturation and stabilization in the early secretory pathway.
Ann Stepanchick, Gerda E Breitwieser

Biochem Biophys Res Commun· April 2010

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