Search Results - "Hamel, Paul A"

Neuronal transcription of autism gene PTCHD1 is regulated by a conserved downstream enhancer sequence by Pastore, Stephen F., Muhammad, Tahir, Stan, Cassandra, Frankland, Paul W., Hamel, Paul A., Vincent, John B.

“…Patched domain-containing 1 ( PTCHD1 ) is a well-established susceptibility gene for autism spectrum disorder (ASD) and intellectual disability (ID). Previous…”
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Nonsynonymous Mutations in Intellectual Disability and Autism Spectrum Disorder Gene PTCHD1 Disrupt N -Glycosylation and Reduce Protein Stability by Xie, Connie T Y, Pastore, Stephen F, Vincent, John B, Frankland, Paul W, Hamel, Paul A

“…has been implicated in Autism Spectrum Disorders (ASDs) and/or intellectual disability, where copy-number-variant losses or loss-of-function coding mutations…”
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Distinct epithelial-to-mesenchymal transitions induced by PIK3CA H1047R and PIK3CB by Gjelaj, Ersa, Hamel, Paul A

“…The most common mutation, producing the H1047R mutant of p110α, arises in myriad malignancies and is typically observed in low-grade breast tumours. In…”
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Ptch1 is required locally for mammary gland morphogenesis and systemically for ductal elongation by Moraes, Ricardo C, Chang, Hong, Harrington, Nikesha, Landua, John D, Prigge, Jonathan T, Lane, Timothy F, Wainwright, Brandon J, Hamel, Paul A, Lewis, Michael T

“…Systemic hormones and local growth factor-mediated tissue interactions are essential for mammary gland development. Using phenotypic and transplantation…”
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The protein-specific activities of the transmembrane modules of Ptch1 and Ptch2 are determined by their adjacent protein domains by Fleet, Andrew J., Hamel, Paul A.

“…Signaling through the Hedgehog (Hh) pathway is mediated by the Patched (Ptch) family of proteins. Although the vertebrate Ptch proteins Ptch1 and Ptch2 harbor…”
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Alx4 Binding to LEF-1 Regulates N-CAM Promoter Activity by Boras, Kata, Hamel, Paul A

“…During murine embryogenesis, expression of the paired-like homeodomain protein Alx4 is restricted to tissues whose development depends on the expression of…”
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Wnt-Signalling in the Embryonic Mammary Gland by Boras-Granic, Kata, Hamel, Paul A.

“…The first member of the Wnt-family ligands was identified 30 years ago as a factor in mouse mammary tumours whose expression was deregulated due to the…”
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Oestrogen receptor-alpha regulates non-canonical Hedgehog-signalling in the mammary gland by Okolowsky, Nadia, Furth, Priscilla A., Hamel, Paul A.

“…Mesenchymal dysplasia (mes) mice harbour a truncation in the C-terminal region of the Hh-ligand receptor, Patched-1 (mPtch1). While the mes variant of mPtch1…”
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Distinct Effects of the mesenchymal dysplasia Gene Variant of Murine Patched-1 Protein on Canonical and Non-canonical Hedgehog Signaling Pathways by Harvey, Malcolm C., Fleet, Andrew, Okolowsky, Nadia, Hamel, Paul A.

“…Hedgehog (Hh) signaling requires regulation of the receptor Patched-1 (Ptch1), which, in turn, regulates Smoothened activity (canonical Hh signaling) as well…”
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Lef1 is required for the transition of Wnt signaling from mesenchymal to epithelial cells in the mouse embryonic mammary gland by Boras-Granic, Kata, Chang, Hong, Grosschedl, Rudolf, Hamel, Paul A.

“…Inductive reciprocal signaling between mesenchymal and adjacent epithelia gives rise to skin appendages such as hair follicles and mammary glands…”
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Activities of the Cytoplasmic Domains of Patched-1 Modulate but Are Not Essential for the Regulation of Canonical Hedgehog Signaling by Fleet, Andrew, Lee, Jennifer P.Y., Tamachi, Aaliya, Javeed, Imaan, Hamel, Paul A.

“…The Hedgehog (Hh) pathway is a highly conserved signaling cascade crucial for cell fate determination during embryogenesis. Response to the Hh ligands is…”
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Pax3 induces cell aggregation and regulates phenotypic mesenchymal-epithelial interconversion by Wiggan, O'Neil, Fadel, Marc P, Hamel, Paul A

“…Paired box-containing transcription factors play fundamental roles in pattern formation during embryonic development of diverse organisms ranging from…”
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PTCHD1 : Identification and Neurodevelopmental Contributions of an Autism Spectrum Disorder and Intellectual Disability Susceptibility Gene by Pastore, Stephen F, Ko, Sangyoon Y, Frankland, Paul W, Hamel, Paul A, Vincent, John B

“…Over the last one and a half decades, copy number variation and whole-genome sequencing studies have illuminated the considerable genetic heterogeneity that…”
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Activation of Erk by sonic hedgehog independent of canonical hedgehog signalling by Chang, Hong, Li, Qing, Moraes, Ricardo C., Lewis, Michael T., Hamel, Paul A.

“…Hedgehog (Hh) signalling is mediated through the Patched-1 (Ptch1) receptor. Hh-binding to Ptch1 blocks the inhibitory effects of Ptch1 on the activity of the…”
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Genetic interaction between Lef1 and Alx4 is required for early embryonic development by Boras-Granic, Kata, Grosschedl, Rudolf, Hamel, Paul A

“…Lymphoid Enhancer Factor-1 (Lef1) facilitates the assembly of transcriptional regulatory complexes and mediates nuclear responses to Wnt signals. We determined…”
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Mammary epithelial-restricted expression of activated c-src rescues the block to mammary gland morphogenesis due to the deletion of the C-terminus of Patched-1 by Chang, Hong, Balenci, Laurent, Okolowsky, Nadia, Muller, William J., Hamel, Paul A.

“…Mesenchymal dysplasia (mes) mice expressing a C-terminally truncated version of the Hedgehog (Hh)-ligand receptor, Patched-1 (Ptch1), exhibit a limited…”
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Lymphoid enhancer factor-1 mediates loading of Pax3 to a promoter harbouring lymphoid enhancer factor-1 binding sites resulting in enhancement of transcription by Christova, Tania, Mojtahedi, Golnessa, Hamel, Paul A.

“…The transcription factor, Pax3, alters transcription by binding directly to promoter regions harbouring sequences recognized by either its paired domain or its…”
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The E2F-family proteins induce distinct cell cycle regulatory factors in p16-arrested, U343 astrocytoma cells by DIRKS, P. B, RUTKA, J. T, HUBBARD, S. L, MONDAL, S, HAMEL, P. A

“…We previously demonstrated that P16Ink4a (p16) expression in p16-deficient U343 astrocytoma cells causes a G1 cell cycle arrest, profound changes in…”
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Regulation of Expression and Activity of Distinct pRB, E2F, D-Type Cyclin, and CKI Family Members during Terminal Differentiation of P19 Cells by Gill, R.Montgomery, Slack, Ruth, Kiess, Markus, Hamel, Paul A

“…The cell cycle regulatory proteins, which include cyclin-dependent kinases (cdks), cdk inhibitors (CKIs), cyclins, and the pRB, and E2F families of proteins,…”
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Cell-type-specific regulation of distinct sets of gene targets by Pax3 and Pax3 FKHR by BEGUM, Salma, EMANI, Nashmil, CHEUNG, Albert, WILKINS, Olivia, DER, Sandy, HAMEL, Paul A

“…The oncogenic fusion protein, Pax3/FKHR, is a more potent transcription factor relative to its normal counterpart, Pax3. Since Pax3 induced a mesenchymal to…”
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