Search Results - "Misra, Vinod K"

Maternal Serum Lipids During Pregnancy and Infant Birth Weight: The Influence of Prepregnancy BMI by Misra, Vinod K., Trudeau, Sheri, Perni, Uma

“…Maternal obesity may be associated with metabolic factors that affect the intrauterine environment, fetal growth, and the offspring's long‐term risk for…”
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Functional insight into a neurodevelopmental disorder caused by missense variants in an RNA-binding protein, RBM10 by Imagawa, Eri, Moreta, Latisha, Misra, Vinod K, Newman, Claire, Konuma, Tsuyoshi, Oishi, Kimihiko

“…The RNA-binding motif protein 10, RBM10, is an RNA splicing regulator essential for development. Loss-of-function RBM10 variants are associated with TARP…”
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Dermal Melanocytosis: More than Meets the Eye by Sidhu, Alpa, MD, PhD, Misra, Vinod K., MD PhD

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Declining School Performance as a Harbinger of a Treatable Neurodegenerative Condition by Prasun, Pankaj, MD, Misra, Vinod K., MD, PhD

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Single-Molecule Transition-State Analysis of RNA Folding by Bokinsky, Gregory, Rueda, David, Misra, Vinod K., Rhodes, Maria M., Gordus, Andrew, Babcock, Hazen P., Walter, Nils G., Zhuang, Xiaowei

“…How RNA molecules fold into functional structures is a problem of great significance given the expanding list of essential cellular RNA enzymes and the…”
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A Thermodynamic Framework for Mg2+Binding to RNA by Misra, Vinod K., Draper, David E.

“…We present a model describing how Mg2+binds and stabilizes specific RNA structures. In this model, RNA stabilization arises from two energetically distinct…”
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The Influence of Overweight and Obesity on Longitudinal Trends in Maternal Serum Leptin Levels During Pregnancy by Misra, Vinod K., Trudeau, Sheri

“…Maternal obesity influences a number of metabolic factors that can affect the course of pregnancy. Among these factors, leptin plays an important role in…”
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A Compact RNA Tertiary Structure Contains a Buried Backbone–K + Complex by Conn, Graeme L, Gittis, Apostolos G, Lattman, Eaton E, Misra, Vinod K, Draper, David E

“…The structure of a 58 nucleotide ribosomal RNA fragment buries several phosphate groups of a hairpin loop within a large tertiary core. During refinement of an…”
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A 3′-truncating FTL mutation associated with hypoferritinemia without neuroferritinopathy by Turner, Stefanie, Dress, Carolyn, Misra, Vinod K.

“…Mutations in the gene for the ferritin light chain (FTL) often present with hypoferritinemia associated with progressive, late onset extrapyramidal…”
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Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism by Gunning, Adam C., Strucinska, Klaudia, Muñoz Oreja, Mikel, Parrish, Andrew, Caswell, Richard, Stals, Karen L., Durigon, Romina, Durlacher-Betzer, Karina, Cunningham, Mitchell H., Grochowski, Christopher M., Baptista, Julia, Tysoe, Carolyn, Baple, Emma, Lahiri, Nayana, Homfray, Tessa, Scurr, Ingrid, Armstrong, Catherine, Dean, John, Fernandez Pelayo, Uxoa, Jones, Aleck W.E., Taylor, Robert W., Misra, Vinod K., Yoon, Wan Hee, Wright, Caroline F., Lupski, James R., Spinazzola, Antonella, Harel, Tamar, Holt, Ian J., Ellard, Sian

“…Recent studies have identified both recessive and dominant forms of mitochondrial disease that result from ATAD3A variants. The recessive form includes…”
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Prepregnancy Body Mass Index and Gestational Age-Dependent Changes in Lipid Levels During Pregnancy by Vahratian, Anjel, Misra, Vinod K., Trudeau, Sheri, Misra, Dawn P.

“…To examine the effect of maternal prepregnancy overweight and obesity on gestational age-dependent variation in lipid levels during pregnancy. Women between 6…”
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Ornithine Transcarbamylase Deficiency Presenting With Acute Reversible Cortical Blindness by Prasun, Pankaj, Altinok, Deniz, Misra, Vinod K.

“…Acute focal neurologic deficits are a rare but known presentation of ornithine transcarbamylase deficiency, particularly in females. We describe here a…”
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Maternal serum leptin during pregnancy and infant birth weight: The influence of maternal overweight and obesity by Misra, Vinod K., Straughen, Jennifer K., Trudeau, Sheri

“…Objective: Few studies have examined whether the distinct metabolic patterns found in obese and nonobese pregnant women have different effects on the growing…”
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A Case of 45,X/46,XY Mosaicism Presenting as Swyer Syndrome by Chand, Momal T., Turner, Stefanie, Solomon, Leigh Ann, Jay, Allison, Rabah, Raja, Misra, Vinod K.

“…Swyer syndrome is a difference of sex development that is typically associated with mutations in genes responsible for testicular development. It is speculated…”
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Biallelic variants in SLC4A10 encoding a sodium-dependent bicarbonate transporter lead to a neurodevelopmental disorder by Maroofian, Reza, Zamani, Mina, Kaiyrzhanov, Rauan, Liebmann, Lutz, Karimiani, Ehsan Ghayoor, Vona, Barbara, Huebner, Antje K., Calame, Daniel G., Misra, Vinod K., Sadeghian, Saeid, Azizimalamiri, Reza, Mohammadi, Mohammad Hasan, Zeighami, Jawaher, Heydaran, Sogand, Toosi, Mehran Beiraghi, Akhondian, Javad, Babaei, Meisam, Hashemi, Narges, Schnur, Rhonda E., Suri, Mohnish, Setzke, Jonas, Wagner, Matias, Brunet, Theresa, Grochowski, Christopher M., Emrick, Lisa, Chung, Wendy K., Hellmich, Ute A., Schmidts, Miriam, Lupski, James R., Galehdari, Hamid, Severino, Mariasavina, Houlden, Henry, Hübner, Christian A.

“…SLC4A10 encodes a plasma membrane-bound transporter, which mediates Na+-dependent HCO3− import, thus mediating net acid extrusion. Slc4a10 knockout mice show…”
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Ethnic heterogeneity in the longitudinal effects of placental vascular blood flow on birthweight by Misra, Vinod K., MD, PhD, Hobel, Calvin J., MD, Sing, Charles F., PhD

“…Objective Our goals were: (1) to estimate the longitudinal trends in uterine artery (UtArt) and umbilical artery (UmArt) resistance indices (RIs) in different…”
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Infantile Adrenocortical Tumor with an Activating GNAS1 Mutation by Sidhu, Alpa, Debelenko, Larisa, Misra, Vinod K

“…Context: Pediatric adrenocortical tumors (ACTs) are rare and are frequently associated with tumor predisposition syndromes. Somatic GNAS1 mutations are…”
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Preterm Delivery as a Unique Pathophysiologic State Characterized by Maternal Soluble FMS-Like Tyrosine Kinase 1 and Uterine Artery Resistance During Pregnancy: A Longitudinal Cohort Study by Straughen, Jennifer K, Misra, Dawn P, Helmkamp, Laura, Misra, Vinod K

“…Preterm delivery (PTD) may be characterized by altered interrelationships among angiogenic factors and measures of placental function. We analyzed the…”
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Rib Fracture in a Term Newborn with Respiratory Distress by Doctor, Pezad N., Sood, Beena G., Natarajan, Girija, Misra, Vinod K.

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Case 3: A 10-year-old Boy with Saber Shins by Fabie, Noelle Andrea V, Misra, Vinod K

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