Paul A Hamel
Overview
Explore the profile of Paul A Hamel including associated specialties, affiliations and a list of published articles.
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Articles
23
Citations
334
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0
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Recent Articles
1.
Xie C, Pastore S, Vincent J, Frankland P, Hamel P
Cells
. 2024 Jan;
13(2).
PMID: 38275824
has been implicated in Autism Spectrum Disorders (ASDs) and/or intellectual disability, where copy-number-variant losses or loss-of-function coding mutations segregate with disease in an X-linked recessive fashion. Missense variants of have...
2.
Pastore S, Muhammad T, Stan C, Frankland P, Hamel P, Vincent J
Sci Rep
. 2023 Nov;
13(1):20391.
PMID: 37990104
Patched domain-containing 1 (PTCHD1) is a well-established susceptibility gene for autism spectrum disorder (ASD) and intellectual disability (ID). Previous studies have suggested that alterations in the dosage of PTCHD1 may...
3.
Pastore S, Ko S, Frankland P, Hamel P, Vincent J
Genes (Basel)
. 2022 Mar;
13(3).
PMID: 35328080
Over the last one and a half decades, copy number variation and whole-genome sequencing studies have illuminated the considerable genetic heterogeneity that underlies the etiologies of autism spectrum disorder (ASD)...
4.
Gjelaj E, Hamel P
J Cell Sci
. 2021 Feb;
134(4).
PMID: 33526718
The most common mutation, producing the H1047R mutant of p110α, arises in myriad malignancies and is typically observed in low-grade breast tumours. In contrast, amplification is observed for wild-type ,...
5.
Fleet A, Hamel P
J Biol Chem
. 2018 Sep;
293(43):16583-16595.
PMID: 30166346
Signaling through the Hedgehog (Hh) pathway is mediated by the Patched (Ptch) family of proteins. Although the vertebrate Ptch proteins Ptch1 and Ptch2 harbor two closely related transmembrane modules related...
6.
Fleet A, Lee J, Tamachi A, Javeed I, Hamel P
J Biol Chem
. 2016 Jun;
291(34):17557-68.
PMID: 27325696
The Hedgehog (Hh) pathway is a highly conserved signaling cascade crucial for cell fate determination during embryogenesis. Response to the Hh ligands is mediated by the receptor Patched-1 (Ptch1), a...
7.
Okolowsky N, Furth P, Hamel P
Dev Biol
. 2014 Apr;
391(2):219-29.
PMID: 24769368
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 binds to Hh-ligands with an affinity similar...
8.
Harvey M, Fleet A, Okolowsky N, Hamel P
J Biol Chem
. 2014 Feb;
289(15):10939-10949.
PMID: 24570001
Hedgehog (Hh) signaling requires regulation of the receptor Patched-1 (Ptch1), which, in turn, regulates Smoothened activity (canonical Hh signaling) as well as other non-canonical signaling pathways. The mutant Ptch1 allele...
9.
Boras-Granic K, Hamel P
J Mammary Gland Biol Neoplasia
. 2013 May;
18(2):155-63.
PMID: 23660702
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 promoter activity emanating from...
10.
Chang H, Balenci L, Okolowsky N, Muller W, Hamel P
Dev Biol
. 2012 Sep;
370(2):187-97.
PMID: 22968113
Mesenchymal dysplasia (mes) mice expressing a C-terminally truncated version of the Hedgehog (Hh)-ligand receptor, Patched-1 (Ptch1), exhibit a limited spectrum of developmental defects including blocked ductal morphogenesis of the mammary...