Search Results - "Lao, Qizong"

Molecular genetic testing of congenital adrenal hyperplasia due to 21-hydroxylase deficiency should include CAH-X chimeras by Lao, Qizong, Merke, Deborah P

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Cannabinoids Inhibit Insulin Receptor Signaling in Pancreatic β-Cells by KIM, Wook, DOYLE, Maire E, MOADDEL, Ruin, YAN WANG, MAUDSLEY, Stuart, MARTIN, Bronwen, KULKARNI, Rohit N, EGAN, Josephine M, ZHUO LIU, QIZONG LAO, SHIN, Yu-Kyong, CARLSON, Olga D, HEE SEUNG KIM, THOMAS, Sam, NAPORA, Joshua K, EUN KYUNG LEE

“…Optimal glucose homeostasis requires exquisitely precise adaptation of the number of insulin-secreting β-cells in the islets of Langerhans. Insulin itself…”
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Congenital adrenal hyperplasia due to two rare CYP21A2 variant alleles, including a novel attenuated CYP21A1P/CYP21A2 chimera by Lao, Qizong, Burkardt, Deepika D., Kollender, Sarah, Faucz, Fabio R., Merke, Deborah P.

“…Background Congenital adrenal hyperplasia (CAH) due to 21‐hydroxylase (21OH) deficiency is an autosomal recessive inborn error of cortisol biosynthesis, with…”
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Measurement of serum tenascin-X in patients with congenital adrenal hyperplasia at risk for Ehlers-Danlos contiguous gene deletion syndrome CAH-X by Kolli, Vipula, Kim, Hannah, Rao, Hamsini, Lao, Qizong, Gaynor, Alison, Milner, Joshua D, Merke, Deborah P

“…Approximately 10% of patients with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency carry a mutation that disrupts CYP21A2 and the…”
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A TNXB splice donor site variant as a cause of hypermobility type Ehlers–Danlos syndrome in patients with congenital adrenal hyperplasia by Lao, Qizong, Mallappa, Ashwini, Rueda Faucz, Fabio, Joyal, Elizabeth, Veeraraghavan, Padmasree, Chen, Wuyan, Merke, Deborah P.

“…Background Congenital adrenal hyperplasia (CAH) due to 21‐hydroxylase deficiency is an autosomal recessive disease of steroidogenesis that affects 1 in 15,000…”
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Insulin and glucagon regulate pancreatic α-cell proliferation by Liu, Zhuo, Kim, Wook, Chen, Zhike, Shin, Yu-Kyong, Carlson, Olga D, Fiori, Jennifer L, Xin, Li, Napora, Joshua K, Short, Ryan, Odetunde, Juliana O, Lao, Qizong, Egan, Josephine M

“…Type 2 diabetes mellitus (T2DM) results from insulin resistance and β-cell dysfunction, in the setting of hyperglucagonemia. Glucagon is a 29 amino acid…”
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Letter to the Editor from Lao and Merke: "Ehlers-Danlos Syndrome: Molecular and Clirnical Characterization of TNXA/TNXB Chimeras in Congenital Adrenal Hyperplasia" by Lao, Qizong, Merke, Deborah P

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Letter to the Editor from Lao and Merke: “Ehlers–Danlos Syndrome: Molecular and Clinical Characterization of TNXA/TNXB Chimeras in Congenital Adrenal Hyperplasia” by Lao, Qizong, Merke, Deborah P

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High-Throughput Screening for CYP21A1P-TNXA/TNXB Chimeric Genes Responsible for Ehlers-Danlos Syndrome in Patients with Congenital Adrenal Hyperplasia by Lao, Qizong, Brookner, Brittany, Merke, Deborah P.

“…Many patients with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency have CAH-X syndrome, a connective tissue dysplasia consistent with…”
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Response to Letter to the Editor: “Characterization of the CYP11A1 Nonsynonymous Variant p.E314K in Children Presenting With Adrenal Insufficiency” by Kolli, Vipula, Lao, Qizong, Merke, Deborah P

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Characterization of the CYP11A1 Nonsynonymous Variant p.E314K in Children Presenting With Adrenal Insufficiency by Kolli, Vipula, Kim, Hannah, Torky, Ahmed, Lao, Qizong, Tatsi, Christina, Mallappa, Ashwini, Merke, Deborah P

“…Abstract Context Cholesterol side-chain cleavage enzyme (P450scc), encoded by CYP11A1, catalyzes the first step of steroidogenesis. Complete P450scc deficiency…”
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Switching of the relative dominance between feedback mechanisms in lipopolysaccharide-induced NF-κB signaling by Sung, Myong-Hee, Li, Ning, Lao, Qizong, Gottschalk, Rachel A, Hager, Gordon L, Fraser, Iain D C

“…A fundamental goal in biology is to gain a quantitative understanding of how appropriate cell responses are achieved amid conflicting signals that work in…”
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Pseudogene ITNXA/I Variants May Interfere with the Genetic Testing of CAH-X by Lao, Qizong, Zhou, Kiet, Parker, Megan, Faucz, Fabio R, Merke, Deborah P

“…CAH-X is a hypermobility-type Ehlers–Danlos syndrome connective tissue dysplasia affecting approximately 15% of patients with 21-hydroxylase deficiency…”
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Pseudogene TNXA Variants May Interfere with the Genetic Testing of CAH-X by Lao, Qizong, Zhou, Kiet, Parker, Megan, Faucz, Fabio R, Merke, Deborah P

“…CAH-X is a hypermobility-type Ehlers-Danlos syndrome connective tissue dysplasia affecting approximately 15% of patients with 21-hydroxylase deficiency…”
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Complement component 4 variations may influence psychopathology risk in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency by Lao, Qizong, Jardin, Marcia Des, Jayakrishnan, Rahul, Ernst, Monique, Merke, Deborah P.

“…CYP21A2 defects result in congenital adrenal hyperplasia (CAH), an autosomal recessive disorder characterized by impaired adrenal steroidogenesis. CYP21A2 lies…”
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Cannabinoids induce pancreatic β-cell death by directly inhibiting insulin receptor activation by Kim, Wook, Lao, Qizong, Shin, Yu-Kyong, Carlson, Olga D, Lee, Eun Kyung, Gorospe, Myriam, Kulkarni, Rohit N, Egan, Josephine M

“…Cannabinoid 1 (CB1) receptors have been previously detected in pancreatic β cells, where they attenuate insulin action. We now report that CB1 receptors form a…”
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Revisiting the association of HLA alleles and haplotypes with CYP21A2 mutations in a large cohort of patients with congenital adrenal hyperplasia by Jayakrishnan, Rahul, Lao, Qizong, Adams, Sharon D., Ward, William W., Merke, Deborah P.

“…The CYP21A2 gene encoding 21‑hydroxylase is on chromosome 6p21.3 within the human leukocyte antigen (HLA) class III major histocompatibility complex and an…”
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8644 Dynamic Insights into Glucocorticoid Receptor Dysfunction: Novel patient-derived T437I Mutation and Its Impact on Glucocorticoid Receptor Function by Tettey, Theophilus, Kim, Sohyoung, Wagh, Kaustubh, Lao, Qizong, Schiltz, Louis R, Lafuente, Agustina, Stavreva, Diana A, Presman, Diego Martin, Merke, Deborah P, Hager, Gordon L

“…Disclosure: T. Tettey: None. S. Kim: None. K. Wagh: None. Q. Lao: None. L.R. Schiltz: None. D.A. Stavreva: None. D.M. Presman: None. D.P. Merke: None. G.L…”
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Abstract 3352: Genome-wide enhancer identify signature predictive of metastatic phenotypes in bladder cancers by Kim, Sohyoung, Varticovski, Lyuba, Lao, Qizong, Baek, Songjoon, Nickerson, Michael L., Sung, Myong-Hee, Grontved, Lars, Bethtrice, Thompson, Theodorescu, Dan, Agarwal, Piyush K., Dean, Michael, Hager, Gordon

“…In urothelial bladder cancer accurate identification of grade and stage is critical for optimal treatment to achieve robust disease control and long-term…”
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SAT-069 A Case of Congenital Hypoaldosteronism Due to Aldosterone Synthase Deficiency Misdiagnosed as Classic Congenital Adrenal Hyperplasia by Mallappa, Ashwini, Lao, Qizong, Lokhmatova, Kira, Veeraraghavan, Padmasree, Merke, Deborah

“…Background: The clinical presentation of congenital hypoaldosteronism due to aldosterone synthase (aka corticosterone methyloxidase; CMO) deficiency varies…”
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