Publications:

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Molecular test of Paget's disease of bone in families not linked to SQSTM1 gene mutations.

Bone Reports

You, Yang Y; Simonyan, David D; Bureau, Alexandre A; Gagnon, Edith E; Albert, Caroline C; Guertin, Jason R JR; Tarride, Jean-Eric JE; Brown, Jacques P JP; Michou, Laëtitia L

Publication Date: 2023-06

Variant appearance in text: rs1561570

PubMed Link: 36915391

Variant Present in the following documents:

• Main text
• main.pdf

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Update on the pathogenesis and genetics of Paget's disease of bone.

Frontiers In Cell And Developmental Biology

Gennari, Luigi L; Rendina, Domenico D; Merlotti, Daniela D; Cavati, Guido G; Mingiano, Christian C; Cosso, Roberta R; Materozzi, Maria M; Pirrotta, Filippo F; Abate, Veronica V; Calabrese, Marco M; Falchetti, Alberto A

Publication Date: 2022

Variant appearance in text: rs1561570

PubMed Link: 36035996

Variant Present in the following documents:

• Main text
• fcell-10-932065.pdf

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Epigenetic DNA Methylation Signatures Associated With the Severity of Paget's Disease of Bone.

Frontiers In Cell And Developmental Biology

Diboun, Ilhame I; Wani, Sachin S; Ralston, Stuart H SH; Albagha, Omar M E OME

Publication Date: 2022

Variant appearance in text: rs1561570

PubMed Link: 35769265

Variant Present in the following documents:

• Main text
• fcell-10-903612.pdf

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Genetic Determinants of Paget's Disease of Bone.

Current Osteoporosis Reports

Makaram, Navnit S NS; Ralston, Stuart H SH

Publication Date: 2021-06

Variant appearance in text: rs1561570

PubMed Link: 33988819

Variant Present in the following documents:

• Main text
• 11914_2021_Article_676.pdf

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Pathogenic Single Nucleotide Polymorphisms on Autophagy-Related Genes.

International Journal Of Molecular Sciences

Tamargo-Gómez, Isaac I; Fernández, Álvaro F ÁF; Mariño, Guillermo G

Publication Date: 2020-11-02

Variant appearance in text: rs1561570

PubMed Link: 33147747

Variant Present in the following documents:

• Main text
• ijms-21-08196.pdf

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Genetic regulatory mechanisms in human osteoclasts suggest a role for the STMP1 and DCSTAMP genes in Paget's disease of bone.

Scientific Reports

Mullin, Benjamin H BH; Zhu, Kun K; Brown, Suzanne J SJ; Mullin, Shelby S; Tickner, Jennifer J; Pavlos, Nathan J NJ; Dudbridge, Frank F; Xu, Jiake J; Walsh, John P JP; Wilson, Scott G SG

Publication Date: 2019-01-31

Variant appearance in text: rs1561570

PubMed Link: 30705363

Variant Present in the following documents:

• Main text
• 41598_2018_Article_37609.pdf

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Could a chimeric condition be responsible for unexpected genetic syndromes? The role of the single nucleotide polymorphism-array analysis.

Molecular Genetics & Genomic Medicine

Bottega, Roberta R; Cappellani, Stefania S; Fabretto, Antonella A; Spinelli, Alessandro Mauro AM; Severini, Giovanni Maria GM; Aloisio, Michelangelo M; Faleschini, Michela M; Athanasakis, Emmanouil E; Bruno, Irene I; Faletra, Flavio F; Pecile, Vanna V

Publication Date: 2019-03

Variant appearance in text: rs1561570

PubMed Link: 30628197

Variant Present in the following documents:

• Main text

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Molecular effect of an OPTN common variant associated to Paget's disease of bone.

Plos One

Silva, Iris A L IAL; Conceição, Natércia N; Gagnon, Édith É; Brown, Jacques P JP; Cancela, M Leonor ML; Michou, Laëtitia L

Publication Date: 2018

Variant appearance in text: rs1561570

PubMed Link: 29782529

Variant Present in the following documents:

• Main text
• pone.0197543.pdf
• pone.0197543.s006.xlsx, sheet 1
• pone.0197543.s007.xlsx, sheet 1

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Clinical and Genetic Advances in Paget's Disease of Bone: a Review.

Clinical Reviews In Bone And Mineral Metabolism

Alonso, N N; Calero-Paniagua, I I; Del Pino-Montes, J J

Publication Date: 2017

Variant appearance in text: rs1561570

PubMed Link: 28255281

Variant Present in the following documents:

• Main text
• 12018_2016_Article_9226.pdf

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A technical application of quantitative next generation sequencing for chimerism evaluation.

Molecular Medicine Reports

Aloisio, Michelangelo M; Licastro, Danilo D; Caenazzo, Luciana L; Torboli, Valentina V; D'Eustacchio, Angela A; Severini, Giovanni Maria GM; Athanasakis, Emmanouil E

Publication Date: 2016-10

Variant appearance in text: rs1561570

PubMed Link: 27499173

Variant Present in the following documents:

• Main text
• mmr-14-04-2967.pdf

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Genetics of Paget's disease of bone.

Bonekey Reports

Albagha, Omar Me OM

Publication Date: 2015

Variant appearance in text: rs1561570

PubMed Link: 26587225

Variant Present in the following documents:

• Main text

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Optineurin Negatively Regulates Osteoclast Differentiation by Modulating NF-κB and Interferon Signaling: Implications for Paget's Disease.

Cell Reports

Obaid, Rami R; Wani, Sachin E SE; Azfer, Asim A; Hurd, Toby T; Jones, Ruth R; Cohen, Philip P; Ralston, Stuart H SH; Albagha, Omar M E OME

Publication Date: 2015-11-10

Variant appearance in text: rs1561570

PubMed Link: 26527009

Variant Present in the following documents:

• Main text
• mmc2.pdf

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Paget's disease of bone: an osteoimmunological disorder?

Drug Design, Development And Therapy

Numan, Mohamed S MS; Amiable, Nathalie N; Brown, Jacques P JP; Michou, Laëtitia L

Publication Date: 2015

Variant appearance in text: rs1561570

PubMed Link: 26316708

Variant Present in the following documents:

• Main text

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Heritability and genomics of gene expression in peripheral blood.

Nature Genetics

Wright, Fred A FA; Sullivan, Patrick F PF; Brooks, Andrew I AI; Zou, Fei F; Sun, Wei W; Xia, Kai K; Madar, Vered V; Jansen, Rick R; Chung, Wonil W; Zhou, Yi-Hui YH; Abdellaoui, Abdel A; Batista, Sandra S; Butler, Casey C; Chen, Guanhua G; Chen, Ting-Huei TH; D'Ambrosio, David D; Gallins, Paul P; Ha, Min Jin MJ; Hottenga, Jouke Jan JJ; Huang, Shunping S; Kattenberg, Mathijs M; Kochar, Jaspreet J; Middeldorp, Christel M CM; Qu, Ani A; Shabalin, Andrey A; Tischfield, Jay J; Todd, Laura L; Tzeng, Jung-Ying JY; van Grootheest, Gerard G; Vink, Jacqueline M JM; Wang, Qi Q; Wang, Wei W; Wang, Weibo W; Willemsen, Gonneke G; Smit, Johannes H JH; de Geus, Eco J EJ; Yin, Zhaoyu Z; Penninx, Brenda W J H BW; Boomsma, Dorret I DI

Publication Date: 2014-05

Variant appearance in text: rs1561570

PubMed Link: 24728292

Variant Present in the following documents:

• NIHMS576016-supplement-1.pdf

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Linking disease associations with regulatory information in the human genome.

Genome Research

Schaub, Marc A MA; Boyle, Alan P AP; Kundaje, Anshul A; Batzoglou, Serafim S; Snyder, Michael M

Publication Date: 2012-09

Variant appearance in text: rs1561570

PubMed Link: 22955986

Variant Present in the following documents:

• 1748.pdf

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Genetic association study of UCMA/GRP and OPTN genes (PDB6 locus) with Paget's disease of bone.

Bone

Michou, Laëtitia L; Conceição, Natércia N; Morissette, Jean J; Gagnon, Edith E; Miltenberger-Miltenyi, Gabriel G; Siris, Ethel S ES; Brown, Jacques P JP; Cancela, M Leonor ML

Publication Date: 2012-10

Variant appearance in text: rs1561570

PubMed Link: 22796589

Variant Present in the following documents:

• Main text

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Brain expression genome-wide association study (eGWAS) identifies human disease-associated variants.

Plos Genetics

Zou, Fanggeng F; Chai, High Seng HS; Younkin, Curtis S CS; Allen, Mariet M; Crook, Julia J; Pankratz, V Shane VS; Carrasquillo, Minerva M MM; Rowley, Christopher N CN; Nair, Asha A AA; Middha, Sumit S; Maharjan, Sooraj S; Nguyen, Thuy T; Ma, Li L; Malphrus, Kimberly G KG; Palusak, Ryan R; Lincoln, Sarah S; Bisceglio, Gina G; Georgescu, Constantin C; Kouri, Naomi N; Kolbert, Christopher P CP; Jen, Jin J; Haines, Jonathan L JL; Mayeux, Richard R; Pericak-Vance, Margaret A MA; Farrer, Lindsay A LA; Schellenberg, Gerard D GD; , ; Petersen, Ronald C RC; Graff-Radford, Neill R NR; Dickson, Dennis W DW; Younkin, Steven G SG; Ertekin-Taner, Nilüfer N

Publication Date: 2012

Variant appearance in text: rs1561570

PubMed Link: 22685416

Variant Present in the following documents:

• Main text
• pgen.1002707.pdf

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Genome-wide association study identifies variants at CSF1, OPTN and TNFRSF11A as genetic risk factors for Paget's disease of bone.

Nature Genetics

Albagha, Omar M E OM; Visconti, Micaela R MR; Alonso, Nerea N; Langston, Anne L AL; Cundy, Tim T; Dargie, Rosemary R; Dunlop, Malcolm G MG; Fraser, William D WD; Hooper, Michael J MJ; Isaia, Gianluca G; Nicholson, Geoff C GC; del Pino Montes, Javier J; Gonzalez-Sarmiento, Rogelio R; di Stefano, Marco M; Tenesa, Albert A; Walsh, John P JP; Ralston, Stuart H SH

Publication Date: 2010-06

Variant appearance in text: rs1561570

PubMed Link: 20436471

Variant Present in the following documents:

• Main text
• ukmss-29080.pdf

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