Search Results - "Krock, Bryan"

Diagnostic gene sequencing panels: from design to report—a technical standard of the American College of Medical Genetics and Genomics (ACMG) by Bean, Lora, Funke, Birgit, Carlston, Colleen M., Gannon, Jennifer L., Kantarci, Sibel, Krock, Bryan L., Zhang, Shulin, Bayrak-Toydemir, Pinar

“…Gene sequencing panels are a powerful diagnostic tool for many clinical presentations associated with genetic disorders. Advances in DNA sequencing technology…”
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Impaired PIEZO1 function in patients with a novel autosomal recessive congenital lymphatic dysplasia by Lukacs, Viktor, Mathur, Jayanti, Mao, Rong, Bayrak-Toydemir, Pinar, Procter, Melinda, Cahalan, Stuart M., Kim, Helen J., Bandell, Michael, Longo, Nicola, Day, Ronald W., Stevenson, David A., Patapoutian, Ardem, Krock, Bryan L.

“…Piezo1 ion channels are mediators of mechanotransduction in several cell types including the vascular endothelium, renal tubular cells and erythrocytes…”
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Hypoxia-induced angiogenesis: good and evil by Krock, Bryan L, Skuli, Nicolas, Simon, M Celeste

“…The vascular network delivers oxygen (O(2)) and nutrients to all cells within the body. It is therefore not surprising that O(2) availability serves as a…”
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Alagille syndrome mutation update: Comprehensive overview of JAG1 and NOTCH2 mutation frequencies and insight into missense variant classification by Gilbert, Melissa A., Bauer, Robert C., Rajagopalan, Ramakrishnan, Grochowski, Christopher M., Chao, Grace, McEldrew, Deborah, Nassur, James A., Rand, Elizabeth B., Krock, Bryan L., Kamath, Binita M., Krantz, Ian D., Piccoli, David A., Loomes, Kathleen M., Spinner, Nancy B.

“…Alagille syndrome is an autosomal dominant disease with a known molecular etiology of dysfunctional Notch signaling caused primarily by pathogenic variants in…”
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Recessive DNAH9 Loss-of-Function Mutations Cause Laterality Defects and Subtle Respiratory Ciliary-Beating Defects by Loges, Niki T., Antony, Dinu, Maver, Ales, Deardorff, Matthew A., Güleç, Elif Yýlmaz, Gezdirici, Alper, Nöthe-Menchen, Tabea, Höben, Inga M., Jelten, Lena, Frank, Diana, Werner, Claudius, Tebbe, Johannes, Wu, Kaman, Goldmuntz, Elizabeth, Čuturilo, Goran, Krock, Bryan, Ritter, Alyssa, Hjeij, Rim, Bakey, Zeineb, Pennekamp, Petra, Dworniczak, Bernd, Brunner, Han, Peterlin, Borut, Tanidir, Cansaran, Olbrich, Heike, Omran, Heymut, Schmidts, Miriam

“…Dysfunction of motile monocilia, altering the leftward flow at the embryonic node essential for determination of left-right body asymmetry, is a major cause of…”
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The Par-PrkC polarity complex is required for cilia growth in zebrafish photoreceptors by Krock, Bryan L, Perkins, Brian D

“…Specification and development of the apical membrane in epithelial cells requires the function of polarity proteins, including Pard3 and an atypical protein…”
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Endothelial HIF-2α regulates murine pathological angiogenesis and revascularization processes by Skuli, Nicolas, Majmundar, Amar J, Krock, Bryan L, Mesquita, Rickson C, Mathew, Lijoy K, Quinn, Zachary L, Runge, Anja, Liu, Liping, Kim, Meeri N, Liang, Jiaming, Schenkel, Steven, Yodh, Arjun G, Keith, Brian, Simon, M Celeste

“…Localized tissue hypoxia is a consequence of vascular compromise or rapid cellular proliferation and is a potent inducer of compensatory angiogenesis. The…”
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intraflagellar transport protein IFT57 is required for cilia maintenance and regulates IFT-particle-kinesin-II dissociation in vertebrate photoreceptors by Krock, Bryan L, Perkins, Brian D

“…Defects in protein transport within vertebrate photoreceptors can result in photoreceptor degeneration. In developing and mature photoreceptors, proteins…”
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Endothelial HIF-2α regulates murine pathological angiogenesis and revascularization processes by Skuli, Nicolas, Majmundar, Amar J, Krock, Bryan L, Mesquita, Rickson C, Mathew, Lijoy K, Quinn, Zachary L, Runge, Anja, Liu, Liping, Kim, Meeri N, Liang, Jiaming, Schenkel, Steven, Yodh, Arjun G, Keith, Brian, Simon, M Celeste

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The aryl hydrocarbon receptor promotes IL-10 production by NK cells by Wagage, Sagie, John, Beena, Krock, Bryan L, Hall, Aisling O'Hara, Randall, Louise M, Karp, Christopher L, Simon, M Celeste, Hunter, Christopher A

“…The cytokine IL-10 has an important role in limiting inflammation in many settings, including toxoplasmosis. In the present studies, an IL-10 reporter mouse…”
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Automated Clinical Exome Reanalysis Reveals Novel Diagnoses by Baker, Samuel W., Murrell, Jill R., Nesbitt, Addie I., Pechter, Kieran B., Balciuniene, Jorune, Zhao, Xiaonan, Yu, Zhenming, Denenberg, Elizabeth H., DeChene, Elizabeth T., Wilkens, Alisha B., Bhoj, Elizabeth J., Guan, Qiaoning, Dulik, Matthew C., Conlin, Laura K., Abou Tayoun, Ahmad N., Luo, Minjie, Wu, Chao, Cao, Kajia, Sarmady, Mahdi, Bedoukian, Emma C., Tarpinian, Jennifer, Medne, Livija, Skraban, Cara M., Deardorff, Matthew A., Krantz, Ian D., Krock, Bryan L., Santani, Avni B.

“…Clinical exome sequencing (CES) has a reported diagnostic yield of 20% to 30% for most clinical indications. The ongoing discovery of novel gene–disease and…”
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Congenital Hyperinsulinism and Hypopituitarism Attributable to a Mutation in FOXA2 by Vajravelu, Mary Ellen, Chai, Jinghua, Krock, Bryan, Baker, Samuel, Langdon, David, Alter, Craig, De León, Diva D

“…Persistent hypoglycemia in the newborn period most commonly occurs as a result of hyperinsulinism. The phenotype of hypoketotic hypoglycemia can also result…”
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BRAT1-related disease-identification of a patient without early lethality by Mundy, Sheraden A., Krock, Bryan L., Mao, Rong, Shen, Joseph J.

“…We present a patient with neonatal onset of hypertonia and seizures identified through whole exome sequencing to have compound heterozygous variants, c.294dupA…”
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The aryl hydrocarbon receptor nuclear translocator is an essential regulator of murine hematopoietic stem cell viability by Krock, Bryan L., Eisinger-Mathason, Tzipora S., Giannoukos, Dionysios N., Shay, Jessica E., Gohil, Mercy, Lee, David S., Nakazawa, Michael S., Sesen, Julie, Skuli, Nicolas, Simon, M. Celeste

“…Hypoxia-inducible factors (HIFs) are master regulators of the transcriptional response to low oxygen and play essential roles in embryonic development, tissue…”
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Retrograde Intraflagellar Transport by Cytoplasmic Dynein-2 Is Required for Outer Segment Extension in Vertebrate Photoreceptors but Not Arrestin Translocation by Krock, Bryan L, Mills-Henry, Ishara, Perkins, Brian D

“…Anterograde intraflagellar transport (IFT) is essential for photoreceptor outer segment formation and maintenance, as well as for opsin trafficking. However,…”
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Natural and inducible TH17 cells are regulated differently by Akt and mTOR pathways by Kim, Jiyeon S, Sklarz, Tammarah, Banks, Lauren B, Gohil, Mercy, Waickman, Adam T, Skuli, Nicolas, Krock, Bryan L, Luo, Chong T, Hu, Weihong, Pollizzi, Kristin N, Li, Ming O, Rathmell, Jeffrey C, Birnbaum, Morris J, Powell, Jonathan D, Jordan, Martha S, Koretzky, Gary A

“…The Akt-mTOR axis influences cell activation, differentiation and metabolism. Jordan and colleagues show that thymic and inducible T H 17 cells exhibit…”
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A Framework of Critical Considerations in Clinical Exome Reanalyses by Clinical and Laboratory Standards Institute by Leung, Marco L., Ji, Jianling, Baker, Samuel, Buchan, Jillian G., Sivakumaran, Theru A., Krock, Bryan L., Hutchins, Rebecca, Bayrak-Toydemir, Pinar, Pfeifer, John, Cremona, Maria Laura, Funke, Birgit, Santani, Avni B.

“…Exome reanalysis is useful for providing molecular diagnoses for previously uninformative samples. However, challenges exist in implementing a practical…”
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Sequencing-based diagnostics for pediatric genetic diseases: progress and potential by Abou Tayoun, Ahmad N, Krock, Bryan, Spinner, Nancy B

“…The last two decades have witnessed revolutionary changes in clinical diagnostics, fueled by the Human Genome Project and advances in high throughput, Next…”
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Inhibition of hypoxia-inducible factors limits tumor progression in a mouse model of colorectal cancer by Shay, Jessica E.S., Imtiyaz, Hongxia Z., Sivanand, Sharanya, Durham, Amy C., Skuli, Nicolas, Hsu, Sarah, Mucaj, Vera, Eisinger-Mathason, T.S.Karin, Krock, Bryan L., Giannoukos, Dionysios N., Simon, M.Celeste

“…Summary Acriflavine, a known HIF inhibitor, limits murine colorectal cancer progression through HIF-specific effects on both colonic epithelial cells and…”
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Rapid and accurate interpretation of clinical exomes using Phenoxome: a computational phenotype-driven approach by Wu, Chao, Devkota, Batsal, Evans, Perry, Zhao, Xiaonan, Baker, Samuel W, Niazi, Rojeen, Cao, Kajia, Gonzalez, Michael A, Jayaraman, Pushkala, Conlin, Laura K, Krock, Bryan L, Deardorff, Matthew A, Spinner, Nancy B, Krantz, Ian D, Santani, Avni B, Tayoun, Ahmad N Abou, Sarmady, Mahdi

“…Clinical exome sequencing (CES) has become the preferred diagnostic platform for complex pediatric disorders with suspected monogenic etiologies. Despite rapid…”
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