Search Results - "Millonig, James H"

Autism-relevant social abnormalities and cognitive deficits in engrailed-2 knockout mice by Brielmaier, Jennifer, Matteson, Paul G, Silverman, Jill L, Senerth, Julia M, Kelly, Samantha, Genestine, Matthieu, Millonig, James H, DiCicco-Bloom, Emanuel, Crawley, Jacqueline N

“…ENGRAILED 2 (En2), a homeobox transcription factor, functions as a patterning gene in the early development and connectivity of rodent hindbrain and…”
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mTORC1 activity oscillates throughout the cell cycle, promoting mitotic entry and differentially influencing autophagy induction by Joshi, Jay N., Lerner, Ariel D., Scallo, Frank, Grumet, Alexandra N., Matteson, Paul, Millonig, James H., Valvezan, Alexander J.

“…Mechanistic Target of Rapamycin Complex 1 (mTORC1) is a master metabolic regulator that is active in nearly all proliferating eukaryotic cells; however, it is…”
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Celf4 controls mRNA translation underlying synaptic development in the prenatal mammalian neocortex by Salamon, Iva, Park, Yongkyu, Miškić, Terezija, Kopić, Janja, Matteson, Paul, Page, Nicholas F., Roque, Alfonso, McAuliffe, Geoffrey W., Favate, John, Garcia-Forn, Marta, Shah, Premal, Judaš, Miloš, Millonig, James H., Kostović, Ivica, De Rubeis, Silvia, Hart, Ronald P., Krsnik, Željka, Rasin, Mladen-Roko

“…Abnormalities in neocortical and synaptic development are linked to neurodevelopmental disorders. However, the molecular and cellular mechanisms governing…”
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Dysregulation of mTOR signaling mediates common neurite and migration defects in both idiopathic and 16p11.2 deletion autism neural precursor cells by Prem, Smrithi, Dev, Bharati, Peng, Cynthia, Mehta, Monal, Alibutud, Rohan, Connacher, Robert J, St Thomas, Madeline, Zhou, Xiaofeng, Matteson, Paul, Xing, Jinchuan, Millonig, James H, DiCicco-Bloom, Emanuel

“…Autism spectrum disorder (ASD) is defined by common behavioral characteristics, raising the possibility of shared pathogenic mechanisms. Yet, vast clinical and…”
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Specific and integrated roles of Lmx1a, Lmx1b and Phox2a in ventral midbrain development by Deng, Qiaolin, Andersson, Elisabet, Hedlund, Eva, Alekseenko, Zhanna, Coppola, Eva, Panman, Lia, Millonig, James H, Brunet, Jean-Francois, Ericson, Johan, Perlmann, Thomas

“…The severe disorders associated with a loss or dysfunction of midbrain dopamine neurons (DNs) have intensified research aimed at deciphering developmental…”
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Autism NPCs from both idiopathic and CNV 16p11.2 deletion patients exhibit dysregulation of proliferation and mitogenic responses by Connacher, Robert, Williams, Madeline, Prem, Smrithi, Yeung, Percy L., Matteson, Paul, Mehta, Monal, Markov, Anna, Peng, Cynthia, Zhou, Xiaofeng, McDermott, Courtney R., Pang, Zhiping P., Flax, Judy, Brzustowicz, Linda, Lu, Che-Wei, Millonig, James H., DiCicco-Bloom, Emanuel

“…Neural precursor cell (NPC) dysfunction has been consistently implicated in autism. Induced pluripotent stem cell (iPSC)-derived NPCs from two autism groups…”
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En2 knockout mice display neurobehavioral and neurochemical alterations relevant to autism spectrum disorder by Cheh, Michelle A., Millonig, James H., Roselli, Lauren M., Ming, Xue, Jacobsen, Erin, Kamdar, Silky, Wagner, George C.

“…Autism spectrum disorder (ASD) is a prevalent and inheritable neurodevelopmental disorder. Recent human genetic studies are consistent with the homeobox…”
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Congenital Cataract in Gpr161vl/vl Mice Is Modified by Proximal Chromosome 15 by Li, Bo I, Ababon, Myka R, Matteson, Paul G, Lin, Yong, Nanda, Vikas, Millonig, James H

“…The morphology and severity of human congenital cataract varies even among individuals with the same mutation, suggesting that genetic background modifies…”
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Autism associated gene, engrailed2, and flanking gene levels are altered in post-mortem cerebellum by Choi, Jiyeon, Ababon, Myka R, Soliman, Mai, Lin, Yong, Brzustowicz, Linda M, Matteson, Paul G, Millonig, James H

“…Previous genetic studies demonstrated association between the transcription factor engrailed2 (EN2) and Autism Spectrum Disorder (ASD). Subsequent molecular…”
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274 Early life antibiotic exposure and genetic risk in neurodevelopmental disorders: effects on neurogenesis, the gut microbiome, and behavior by McDermott, Courtney R., Mirmaglesi, Anya, Gao, Zhan, Kimbark, Katherine, Ntim, Christiana, Zhang, Xuesong, Zhou, Xiaofeng, Millonig, James H., DiCicco-Bloom, Emanuel

“…OBJECTIVES/GOALS: Our long-term goal is to understand how both genetic and environmental (GxE) factors contribute to neurodevelopmental disorders (NDDs) so…”
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Cut-like homeobox 1 and nuclear factor I/B mediate ENGRAILED2 autism spectrum disorder-associated haplotype function by Choi, Jiyeon, Ababon, Myka R., Matteson, Paul G., Millonig, James H.

“…Both common and rare variants contribute to autism spectrum disorder (ASD) risk, but few variants have been established as functional. Previously we…”
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Support for the Homeobox Transcription Factor Gene ENGRAILED 2 as an Autism Spectrum Disorder Susceptibility Locus by Benayed, Rym, Gharani, Neda, Rossman, Ian, Mancuso, Vincent, Lazar, Gloria, Kamdar, Silky, Bruse, Shannon E., Tischfield, Samuel, Smith, Brett J., Zimmerman, Raymond A., DiCicco-Bloom, Emanuel, Brzustowicz, Linda M., Millonig, James H.

“…Our previous research involving 167 nuclear families from the Autism Genetic Resource Exchange (AGRE) demonstrated that two intronic SNPs, rs1861972 and…”
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Identification of a Schizophrenia-Associated Functional Noncoding Variant in NOS1AP by Wratten, Naomi S., Memoli, Holly, Huang, Yungui, Dulencin, Anna M., Matteson, Paul G., Cornacchia, Michelle A., Azaro, Marco A., Messenger, Jaime, Hayter, Jared E., Bassett, Anne S., Buyske, Steven, Millonig, James H., Vieland, Veronica J., Brzustowicz, Linda M.

“…Objective: The authors previously demonstrated significant association between markers within NOS1AP and schizophrenia in a set of Canadian families of…”
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orphan G protein-coupled receptor, Gpr161, encodes the vacuolated lens locus and controls neurulation and lens development by Matteson, Paul G, Desai, Jigar, Korstanje, Ron, Lazar, Gloria, Borsuk, Tanya E, Rollins, Jarod, Kadambi, Sindhuja, Joseph, Jamie, Rahman, Taslima, Wink, Jason, Benayed, Rym, Paigen, Beverly, Millonig, James H

“…The vacuolated lens (vl) mouse mutant causes congenital cataracts and neural tube defects (NTDs), with the NTDs being caused by abnormal neural fold apposition…”
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Chronic Enzyme Replacement to the Brain of a Late Infantile Neuronal Ceroid Lipofuscinosis Mouse Has Differential Effects on Phenotypes of Disease by Wiseman, Jennifer A, Meng, Yu, Nemtsova, Yuliya, Matteson, Paul G, Millonig, James H, Moore, Dirk F, Sleat, David E, Lobel, Peter

“…Late infantile neuronal ceroid lipofuscinosis (LINCL) is a fatal inherited neurodegenerative disease caused by loss of lysosomal protease tripeptidyl peptidase…”
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Engrailed2 modulates cerebellar granule neuron precursor proliferation, differentiation and insulin-like growth factor 1 signaling during postnatal development by Rossman, Ian T, Lin, Lulu, Morgan, Katherine M, Digiovine, Marissa, Van Buskirk, Elise K, Kamdar, Silky, Millonig, James H, Dicicco-Bloom, Emanuel

“…The homeobox transcription factor Engrailed2 (En2) has been studied extensively in neurodevelopment, particularly in the midbrain/hindbrain region and…”
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Medium chain acyl-CoA dehydrogenase deficiency detected among Hispanics by New Jersey newborn screening by Anderson, Sharon, Botti, Christina, Li, Bo, Millonig, James H., Lyon, Elaine, Millson, Alison, Karabin, Suzanne S.M., Brooks, Susan Sklower

“…In the follow‐up of New Jersey newborn screens suggestive of medium chain acyl‐CoA dehydrogenase deficiency (MCADD) during a 30‐month period, we identified…”
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Engrailed-2 (En2) deletion produces multiple neurodevelopmental defects in monoamine systems, forebrain structures and neurogenesis and behavior by Genestine, Matthieu, Lin, Lulu, Durens, Madel, Yan, Yan, Jiang, Yiqin, Prem, Smrithi, Bailoor, Kunal, Kelly, Brian, Sonsalla, Patricia K, Matteson, Paul G, Silverman, Jill, Crawley, Jacqueline N, Millonig, James H, DiCicco-Bloom, Emanuel

“…Many genes involved in brain development have been associated with human neurodevelopmental disorders, but underlying pathophysiological mechanisms remain…”
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Functional Analysis of the weaver Mutant GIRK2 K + Channel and Rescue of weaver Granule Cells by Kofuji, Paulo, Hofer, Magdalena, Millen, Kathleen J, Millonig, James H, Davidson, Norman, Lester, Henry A, Hatten, Mary E

“…In the neurological mutant mouse weaver, granule cell precursors proliferate normally in the external germinal layer of the cerebellar cortex, but fail to…”
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The orphan GPCR, Gpr161, regulates the retinoic acid and canonical Wnt pathways during neurulation by Li, Bo I., Matteson, Paul G., Ababon, Myka F., Nato, Alejandro Q., Lin, Yong, Nanda, Vikas, Matise, Tara C., Millonig, James H.

“…The vacuolated lens (vl) mouse mutation arose on the C3H/HeSnJ background and results in lethality, neural tube defects (NTDs) and cataracts. The vl phenotypes…”
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