W
William G. Cole
Researcher at University of Toronto
Publications - 209
Citations - 12295
William G. Cole is an academic researcher from University of Toronto. The author has contributed to research in topics: Osteogenesis imperfecta & Type I collagen. The author has an hindex of 60, co-authored 209 publications receiving 11730 citations. Previous affiliations of William G. Cole include University of Texas Health Science Center at Houston & Washington University in St. Louis.
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Journal ArticleDOI
Mutations Involving the Transcription Factor CBFA1 Cause Cleidocranial Dysplasia
Stefan Mundlos,Stefan Mundlos,Florian Otto,C Mundlos,C Mundlos,John B. Mulliken,Arthur S. Aylsworth,S Albright,Dick Lindhout,William G. Cole,W Henn,Joan H.M. Knoll,Joan H.M. Knoll,Michael John Owen,Roland Mertelsmann,Bernhard Zabel,Bjorn R. Olsen,Bjorn R. Olsen +17 more
TL;DR: It is concluded that CBFA1 mutations cause Cleidocranial dysplasia and that heterozygous loss of function is sufficient to produce the disorder.
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WNT1 Mutations in Early-onset Osteoporosis and Osteogenesis Imperfecta
Christine M. Laine,Kyu Sang Joeng,Philippe M. Campeau,Riku Kiviranta,Kati Tarkkonen,Monica Grover,James T. Lu,Minna Pekkinen,Maija Wessman,Terhi J. Heino,Vappu Nieminen-Pihala,Mira Aronen,Tero Laine,Heikki Kröger,William G. Cole,Anna-Elina Lehesjoki,Lisette Nevarez,Deborah Krakow,Cynthia J. Curry,Daniel H. Cohn,Richard A. Gibbs,Brendan Lee,Outi Mäkitie +22 more
TL;DR: In mice, Wnt1 was clearly expressed in bone marrow, especially in B-cell lineage and hematopoietic progenitors; lineage tracing identified the expression of the gene in a subset of osteocytes, suggesting the presence of altered cross-talk in WNT signaling between the hematopolietic and osteoblastic lineage cells in these diseases.
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Constitutively Activated Receptors for Parathyroid Hormone and Parathyroid Hormone–Related Peptide in Jansen's Metaphyseal Chondrodysplasia
Ernestina Schipani,Craig B. Langman,A. M. Parfitt,G. S. Jensen,S. Kikuchi,Sang Whay Kooh,William G. Cole,Harald Jüppner,Harald Jüppner +8 more
TL;DR: The expression of constitutively active PTH-PTHrp receptors in kidney, bone, and growth-plate chondrocytes provides a plausible genetic explanation for mineral-ion abnormalities and metaphyseal changes in patients with Jansen's disease.
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Chronic recurrent multifocal osteomyelitis: clinical outcomes after more than five years of follow-up.
Adam M. Huber,Pei-Yoong Lam,Catherine M. Duffy,Rae S. M. Yeung,Michael Ditchfield,Dara Laxer,William G. Cole,H Kerr Graham,Roger C. Allen,Ronald M. Laxer +9 more
TL;DR: In this paper, the clinical outcomes of children with chronic recurrent multifocal osteomyelitis (CRMO) were determined through a study at two tertiary pediatric centers in the US.
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A mutant PTH/PTHrP type I receptor in enchondromatosis
Sevan Hopyan,Nalan Gokgoz,Raymond Poon,Robert C. Gensure,Chunying Yu,William G. Cole,Robert S. Bell,Robert S. Bell,Harald Jüppner,Irene L. Andrulis,Irene L. Andrulis,Jay S. Wunder,Benjamin A. Alman +12 more
TL;DR: A mutant PTH/PTHrP type I receptor (PTHR1) in human en chondromatosis that signals abnormally in vitro and causes enchondroma-like lesions in transgenic mice is identified.