Works by Triggs-Raine, Barbara

Results: 25

Genotype-phenotype pitfalls in Gaucher disease.

Published in:

1994

By:

Strasberg, Paula M.;
Triggs-Raine, Barbara L.;
Warren, Irene B.;
Skomorowski, Marie-Anne;
McInnes, Beth;
Becker, Laurence E.;
Callahan, John W.;
Clarke, Joe T. R.;
Strasberg, P M;
Triggs-Raine, B L;
Warren, I B;
Skomorowski, M A;
McInnes, B;
Becker, L E;
Callahan, J W;
Clarke, J T

Publication type:

journal article

Mouse Hyal3 encodes a 45- to 56-kDa glycoprotein whose overexpression increases hyaluronidase 1 activity in cultured cells.

Published in:

Glycobiology, 2008, v. 18, n. 4, p. 280, doi. 10.1093/glycob/cwn006

By:

Richard Hemming;
Dianna C. Martin;
Elzbieta Slominski;
James I. Nagy;
Andrew J. Halayko;
Steven Pind;
Barbara Triggs-Raine

Publication type:

Article

Bitter taste receptor T2R14 detects quorum sensing molecules from cariogenic Streptococcus mutans and mediates innate immune responses in gingival epithelial cells.

Published in:

FASEB Journal, 2021, v. 35, n. 3, p. 1, doi. 10.1096/fj.202000208R

By:

Medapati, Manoj Reddy;
Singh, Nisha;
Bhagirath, Anjali Yadav;
Duan, Kangmin;
Triggs-Raine, Barbara;
Batista Jr, Eraldo L.;
Chelikani, Prashen

Publication type:

Article

Hyaluronidase 2 (HYAL2) is expressed in endothelial cells, as well as some specialized epithelial cells, and is required for normal hyaluronan catabolism.

Published in:

Histochemistry & Cell Biology, 2016, v. 145, n. 1, p. 53, doi. 10.1007/s00418-015-1373-8

By:

Chowdhury, Biswajit;
Hemming, Richard;
Faiyaz, Sana;
Triggs-Raine, Barbara

Publication type:

Article

Genetic Deficiencies of Hyaluronan Degradation.

Published in:

Cells (2073-4409), 2024, v. 13, n. 14, p. 1203, doi. 10.3390/cells13141203

By:

Fink, Stephen P.;
Triggs-Raine, Barbara

Publication type:

Article

Diverse diseases from a ubiquitous process: The ribosomopathy paradox.

Published in:

FEBS Letters, 2014, v. 588, n. 9, p. 1491, doi. 10.1016/j.febslet.2014.03.024

By:

Armistead, Joy;
Triggs-Raine, Barbara

Publication type:

Article

The prevalence of the HNF-1alpha G319S mutation in Canadian aboriginal youth with type 2 diabetes.

Published in:

2002

By:

Sellers, Elizabeth A.C.;
Triggs-Raine, Barbara;
Rockman-Greenberg, Cheryl;
Dean, Heather J.

Publication type:

journal article

A mouse model of human mucopolysaccharidosis IX exhibits osteoarthritis.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 18, p. 2919, doi. 10.1093/hmg/ddn207

By:

Martin, Dianna C.;
Atmuri, Vasantha;
Hemming, Richard J.;
Farley, Judith;
Mort, John S.;
Byers, Sharon;
Hombach-Klonisch, Sabine;
Csoka, Antonei B.;
Stern, Robert;
Triggs-Raine, Barbara L.

Publication type:

Article

A mouse model of human mucopolysaccharidosis IX exhibits osteoarthritis.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 13, p. 1904, doi. 10.1093/hmg/ddn088

By:

Martin, Dianna C.;
Atmuri, Vasantha;
Hemming, Richard J.;
Farley, Judith;
Mort, John S.;
Byers, Sharon;
Hombach-Klonisch, Sabine;
Stern, Robert;
Triggs-Raine, Barbara L.

Publication type:

Article

A G-to-T transversion at the +5 position of intron 1 in the glutaryl CoA dehydrogenase gene is associated with the island Lake variant of glutaric acidemia type I.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 3, p. 493

By:

Greenberg, Cheryl R.;
Reimer, David;
Singal, Rupinder;
Triggs-Raine, Barbara;
Chudley, Albert E.;
Dilling, Louise A.;
Philipps, Sylvia;
Haworth, James C.;
Seargeant, Lorne E.;
Goodman, Stephen I.

Publication type:

Article

The mitophagy receptor BNIP3L/Nix coordinates nuclear calcium signaling to modulate the muscle phenotype.

Published in:

Autophagy, 2025, v. 21, n. 7, p. 1544, doi. 10.1080/15548627.2025.2476872

By:

Field, Jared T.;
Chapman, Donald;
Hai, Yan;
Ghavami, Saeid;
West, Adrian R.;
Ozerklig, Berkay;
Saleem, Ayesha;
Kline, Julia;
Mendelson, Asher A.;
Kindrachuk, Jason;
Triggs-Raine, Barbara;
Gordon, Joseph W.

Publication type:

Article

Mutations in HYAL2, Encoding Hyaluronidase 2, Cause a Syndrome of Orofacial Clefting and Cor Triatriatum Sinister in Humans and Mice.

Published in:

PLoS Genetics, 2017, v. 13, n. 1, p. 1, doi. 10.1371/journal.pgen.1006470

By:

Muggenthaler, Martina M. A.;
Harlalka, Gaurav V.;
Baple, Emma L.;
Crosby, Andrew H.;
Chioza, Barry A.;
Patton, Michael A.;
Blakley, Brian;
Jackson, Mike;
Lees, Melissa;
Dolinsky, Vernon;
Cross, Leroy;
Salter, Claire;
Alkuraya, Fowzan S.;
Chowdhury, Biswajit;
Hasan, S. Naimul;
Triggs-Raine, Barbara;
Cross, Harold E.;
Mark, Brian;
Ishida, Miho;
Stanier, Philip

Publication type:

Article

Generation of prolactin-inducible protein (Pip) knockout mice by CRISPR/Cas9-mediated gene engineering.

Published in:

Canadian Journal of Physiology & Pharmacology, 2022, v. 100, n. 1, p. 86, doi. 10.1139/cjpp-2021-0306

By:

Terceiro, Lucas E.L.;
Blanchard, Anne A.A.;
Edechi, Chidalu A.;
Freznosa, Agnes;
Triggs-Raine, Barbara;
Leygue, Etienne;
Myal, Yvonne

Publication type:

Article

EMG1 is essential for mouse pre-implantation embryo development.

Published in:

BMC Developmental Biology, 2010, v. 10, p. 99, doi. 10.1186/1471-213X-10-99

By:

Xiaoli Wu;
Sandhu, Sumit;
Patel, Nehal;
Triggs-Raine, Barbara;
Hao Ding

Publication type:

Article

A complete deficiency of Hyaluronoglucosaminidase 1 ( HYAL1) presenting as familial juvenile idiopathic arthritis.

Published in:

Journal of Inherited Metabolic Disease, 2011, v. 34, n. 5, p. 1013, doi. 10.1007/s10545-011-9343-3

By:

Imundo, Lisa;
LeDuc, Charles;
Guha, Saurav;
Brown, Marc;
Perino, Giorgio;
Gushulak, Lara;
Triggs-Raine, Barbara;
Chung, Wendy

Publication type:

Article

A novel HEXA mutation [1393G>A (D465N)] in a Mexican Tay-Sachs disease patient.

Published in:

Human Mutation, 2001, v. 17, n. 5, p. 437, doi. 10.1002/humu.1128

By:

Álvarez-Rodríguez, Adriana;
Triggs-Raine, Barbara;
Barros-Núñez, Patricio;
Lozano, Claudina Medina

Publication type:

Article

W474C amino acid substitution affects early processing of the α-subunit of β-hexosaminidase A and is associated with subacute G<sub>M2</sub> gangliosidosis.

Published in:

Human Mutation, 1998, v. 11, n. 6, p. 432, doi. 10.1002/(SICI)1098-1004(1998)11:6<432::AID-HUMU3>3.0.CO;2-Z

By:

Petroulakis, Emmanuel;
Cao, Zhimin;
Clarke, Joe T. R.;
Mahuran, Don J.;
Lee, Gregory;
Triggs-Raine, Barbara

Publication type:

Article

An Alul<sup>−</sup> polymorphism in the HEXA gene is common in Ashkenazi and Sephardic Jews, Israeli Arabs, and French Canadians of Quebec and Northern New England.

Published in:

Human Mutation, 1995, v. 6, n. 1, p. 89, doi. 10.1002/humu.1380060118

By:

Grinshpun, Julia;
Khosravi, Rami;
Peleg, Lea;
Goldman, Boleslaw;
Kaplan, Feige;
Triggs-Raine, Barbara;
Navon, Ruth

Publication type:

Article

A novel mutation at the invariant acceptor splice site of intron 9 in the HEXA gene [IVS9-1 G→T] detected by a PCR-based diagnostic test.

Published in:

Human Mutation, 1995, v. 5, n. 2, p. 173, doi. 10.1002/humu.1380050211

By:

Brown, David H.;
Triggs-Raine, Barbara L.;
McGinniss, Matthew J.;
Kaback, Michael M.

Publication type:

Article

Long-Term Correction of Sandhoff Disease Following Intravenous Delivery of rAAV9 to Mouse Neonates.

Published in:

Molecular Therapy, 2015, v. 23, n. 3, p. 414, doi. 10.1038/mt.2014.240

By:

Walia, Jagdeep S;
Altaleb, Naderah;
Bello, Alexander;
Kruck, Christa;
LaFave, Matthew C;
Varshney, Gaurav K;
Burgess, Shawn M;
Chowdhury, Biswajit;
Hurlbut, David;
Hemming, Richard;
Kobinger, Gary P;
Triggs-Raine, Barbara

Publication type:

Article

Human growth factor receptor bound 14 binds the activated insulin receptor and alters the insulin-stimulated tyrosine phosphorylation levels of multiple proteins.

Published in:

Biochemistry & Cell Biology, 2001, v. 79, n. 1, p. 21, doi. 10.1139/o00-090

By:

Hemming, Richard;
Agatep, Ronald;
Badiani, Ketan;
Wyant, Kerrie;
Arthur, Gilbert;
Gietz, R Daniel;
Triggs-Raine, Barbara

Publication type:

Article

SPAM1/HYAL5 double deficiency in male mice leads to severe male subfertility caused by a cumulus-oocyte complex penetration defect.

Published in:

FASEB Journal, 2019, v. 33, n. 12, p. 14440, doi. 10.1096/fj.201900889RRR

By:

Soojin Park;
Young-Hyun Kim;
Pil-Soo Jeong;
Chaeri Park;
Jeong-Woong Lee;
Ju-Sung Kim;
Gabin Wee;
Bong-Seok Song;
Boon-Joo Park;
Sang-Hyun Kim;
Bo-Woong Sim;
Sun-Uk Kim;
Triggs-Raine, Barbara;
Tadashi Baba;
Sang-Rae Lee;
Ekyune Kim

Publication type:

Article

Skeletal and hematological anomalies in HYAL2-deficient mice: a second type of mucopolysaccharidosis IX?

Published in:

FASEB Journal, 2008, v. 22, n. 12, p. 4316, doi. 10.1096/fj.08-111997

By:

Jadin, Laurence;
Xiaoli Wu;
Hao Ding;
Frost, Gregory I.;
Onclinx, Cécile;
Triggs-Raine, Barbara;
Flamion, Bruno

Publication type:

Article

Hyal-1 but not hyal-3 deficiency has an impact on ovarian folliculogenesis and female fertility by altering the follistatin/activin/Smad3 pathway and the apoptotic process.

Published in:

Journal of Cellular Physiology, 2012, v. 227, n. 5, p. 1911, doi. 10.1002/jcp.22919

By:

Dumaresq-Doiron, Karine;
Edjekouane, Lydia;
Orimoto, Adriana Mari;
Yoffou, Paule Héléna;
Gushulak, Lara;
Triggs-Raine, Barbara;
Carmona, Euridice

Publication type:

Article

Development of a diagnostic DNA chip to screen for 30 autosomal recessive disorders in the Hutterite population.

Published in:

Molecular Genetics & Genomic Medicine, 2016, v. 4, n. 3, p. 312, doi. 10.1002/mgg3.206

By:

Triggs‐Raine, Barbara;
Dyck, Tamara;
Boycott, Kym M.;
Innes, A. Micheil;
Ober, Carole;
Parboosingh, Jillian S.;
Botkin, Alexis;
Greenberg, Cheryl R.;
Spriggs, Elizabeth L.

Publication type:

Article