Search Results - "Lacaria, Melanie"

The Dystrophin Glycoprotein Complex Regulates the Epigenetic Activation of Muscle Stem Cell Commitment by Chang, Natasha C., Sincennes, Marie-Claude, Chevalier, Fabien P., Brun, Caroline E., Lacaria, Melanie, Segalés, Jessica, Muñoz-Cánoves, Pura, Ming, Hong, Rudnicki, Michael A.

“…Asymmetrically dividing muscle stem cells in skeletal muscle give rise to committed cells, where the myogenic determination factor Myf5 is transcriptionally…”
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Enriched rearing improves behavioral responses of an animal model for CNV-based autistic-like traits by LACARIA, Melanie, SPENCER, Corinne, WENLI GU, PAYLOR, Richard, LUPSKI, James R

“…Potocki-Lupski syndrome (PTLS; MIM #610883), characterized by neurobehavioral abnormalities, intellectual disability and congenital anomalies, is caused by a…”
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Notch Signaling Rescues Loss of Satellite Cells Lacking Pax7 and Promotes Brown Adipogenic Differentiation by Pasut, Alessandra, Chang, Natasha C., Gurriaran-Rodriguez, Uxia, Faulkes, Sharlene, Yin, Hang, Lacaria, Melanie, Ming, Hong, Rudnicki, Michael A.

“…Pax7 is a nodal transcription factor that is essential for regulating the maintenance, expansion, and myogenic identity of satellite cells during both neonatal…”
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P619: Three years of newborn screening for MPS1 in Ontario: Challenges of screening for the severe end of a disease continuum by Lacaria, Melanie, Henderson, Matthew, Yeh, Ed, Fernandez, Sara, Kalbfleisch, Kelsey, Kernohan, Kristin, Chakraborty, Pranesh

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Circadian abnormalities in mouse models of smith-magenis syndrome: Evidence for involvement of RAI1 by Lacaria, Melanie, Gu, Wenli, Lupski, James R

“…Smith–Magenis syndrome (SMS; OMIM 182290) is a genomic disorder characterized by multiple congenital anomalies, intellectual disability, behavioral…”
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A duplication CNV that conveys traits reciprocal to metabolic syndrome and protects against diet-induced obesity in mice and men by Lacaria, Melanie, Saha, Pradip, Potocki, Lorraine, Bi, Weimin, Yan, Jiong, Girirajan, Santhosh, Burns, Brooke, Elsea, Sarah, Walz, Katherina, Chan, Lawrence, Lupski, James R, Gu, Wenli

“…The functional contribution of CNV to human biology and disease pathophysiology has undergone limited exploration. Recent observations in humans indicate a…”
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Next generation sequencing reveals novel compound heterozygous deletions in NDUFAF2 in a child with mitochondrial complex I deficiency, nuclear type 10 by Marshall, Aren E., Brady, Lauren, Yeh, Ed, Mears, Alan J., Lacaria, Melanie, Chakraborty, Pranesh, Tarnopolsky, Mark A., Kernohan, Kristin D.

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Frequency of Nonallelic Homologous Recombination Is Correlated with Length of Homology: Evidence that Ectopic Synapsis Precedes Ectopic Crossing-Over by Liu, Pengfei, Lacaria, Melanie, Zhang, Feng, Withers, Marjorie, Hastings, P.J., Lupski, James R.

“…Genomic disorders constitute a class of diseases that are associated with DNA rearrangements resulting from region-specific genome instability, that is, genome…”
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A rare case of pediatric lipoma with t(9;12)(p22;q14) and evidence of HMGA2-NFIB gene fusion by Lacaria, Melanie, El Demellawy, Dina, McGowan-Jordan, Jean

“…Lipoma is a benign tumor, typically of adulthood, with characteristic cytogenetic findings, including rearrangement of 12q13-15; these rearrangements often…”
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Expansion of the clinical phenotype of the distal 10q26.3 deletion syndrome to include ataxia and hyperemia of the hands and feet by Lacaria, Melanie, Srour, Myriam, Michaud, Jacques L., Doja, Asif, Miller, Elka, Schwartzentruber, Jeremy, Goldsmith, Claire, Majewski, Jacek, Boycott, Kym M.

“…Distal deletion of the long arm of chromosome 10 is associated with a dysmorphic craniofacial appearance, microcephaly, behavioral issues, developmental delay,…”
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Opposing phenotypes in mice with Smith-Magenis deletion and Potocki-Lupski duplication syndromes suggest gene dosage effects on fluid consumption behavior by Heck, Detlef H., Gu, Wenli, Cao, Ying, Qi, Shuhua, Lacaria, Melanie, Lupski, James R.

“…A quantitative long‐term fluid consumption and fluid‐licking assay was performed in two mouse models with either an ∼2 Mb genomic deletion, Df(11)17, or the…”
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A functional role for structural variation in metabolism by Lacaria, Melanie, Gu, Wenli, Lupski, James R.

“…A contribution of structural genomic variation to the heritability of complex metabolic phenotypes was illuminated by the recent characterization of…”
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A functional role for structural variation in metabolism by Melanie Lacaria, Wenli Gu, James R. Lupski

“…A contribution of structural genomic variation to the heritability of complex metabolic phenotypes was illuminated by the recent characterization of…”
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A functional role for structural variation in metabolism by Melanie Lacaria, Wenli Gu, James R. Lupski

“…A contribution of structural genomic variation to the heritability of complex metabolic phenotypes was illuminated by the recent characterization of…”
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A functional role for structural variation in metabolism by Melanie Lacaria, Wenli Gu, James R. Lupski

“…A contribution of structural genomic variation to the heritability of complex metabolic phenotypes was illuminated by the recent characterization of…”
Get full text