Biology of hyaluronan: Insights from genetic disorders of hyaluronan metabolism

Por Triggs-Raine, Barbara, Natowicz, Marvin R
Publicado no World J Biol Chem (2015)

Mutation of EMG1 causing Bowen–Conradi syndrome results in reduced cell proliferation rates concomitant with G2/M arrest and 18S rRNA processing delay

Por Armistead, Joy, Hemming, Richard, Patel, Nehal, Triggs-Raine, Barbara
Publicado no BBA Clin (2014)

EMG1 is essential for mouse pre-implantation embryo development

Por Wu, Xiaoli, Sandhu, Sumit, Patel, Nehal, Triggs-Raine, Barbara, Ding, Hao
Publicado em 2010

Serum lipids, plant sterols, and cholesterol kinetic responses to plant sterol supplementation in phytosterolemia heterozygotes and control individuals(1)(2)(3)

Por Myrie, Semone B, Mymin, David, Triggs-Raine, Barbara, Jones, Peter JH
Publicado em 2012

Murine Hyaluronidase 2 Deficiency Results in Extracellular Hyaluronan Accumulation and Severe Cardiopulmonary Dysfunction

Por Chowdhury, Biswajit, Hemming, Richard, Hombach-Klonisch, Sabine, Flamion, Bruno, Triggs-Raine, Barbara
Publicado em 2013

Hyaluronidase 1 and β-Hexosaminidase Have Redundant Functions in Hyaluronan and Chondroitin Sulfate Degradation

Por Gushulak, Lara, Hemming, Richard, Martin, Dianna, Seyrantepe, Volkan, Pshezhetsky, Alexey, Triggs-Raine, Barbara
Publicado em 2012

Mutations in HYAL1, a member of a tandemly distributed multigene family encoding disparate hyaluronidase activities, cause a newly described lysosomal disorder, mucopolysaccharidos...

Por Triggs-Raine, Barbara, Salo, Timothy J., Zhang, Hong, Wicklow, Brandy A., Natowicz, Marvin R.
Publicado em 1999

Hyaluronidase 2 Deficiency Causes Increased Mesenchymal Cells, Congenital Heart Defects, and Heart Failure

Por Chowdhury, Biswajit, Xiang, Bo, Liu, Michelle, Hemming, Richard, Dolinsky, Vernon W., Triggs-Raine, Barbara
Publicado no Circ Cardiovasc Genet (2017)

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

Por Triggs‐Raine, Barbara, Dyck, Tamara, Boycott, Kym M., Innes, A. Micheil, Ober, Carole, Parboosingh, Jillian S., Botkin, Alexis, Greenberg, Cheryl R., Spriggs, Elizabeth L.
Publicado no Mol Genet Genomic Med (2016)

Acidic hyaluronidase activity is present in mouse sperm and is reduced in the absence of SPAM1: Evidence for a Role for Hyaluronidase 3 in mouse and human sperm

Por Reese, Kristen L., Aravindan, Rolands G., Griffiths, Genevieve S., Shao, Minghai, Wang, Yipei, Galileo, Deni S., Atmuri, Vasantha, Triggs-Raine, Barbara L., Martin-DeLeon, Patricia A.
Publicado em 2010

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

Por 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
Publicado no Mol Ther (2015)

Extracellular Superoxide Dismutase Regulates Early Vascular Hyaluronan Remodeling in Hypoxic Pulmonary Hypertension

Por Tseng, Victor, Ni, Kevin, Allawzi, Ayed, Prohaska, Clare, Hernandez-Lagunas, Laura, Elajaili, Hanan, Cali, Valbona, Midura, Ronald, Hascall, Vincent, Triggs-Raine, Barbara, Petrache, Irina, Hart, C. Michael, Nozik-Grayck, Eva
Publicado no Sci Rep (2020)

HNF-1α G319S, a transactivation-deficient mutant, is associated with altered dynamics of diabetes onset in an Oji-Cree community

Por Triggs-Raine, Barbara L., Kirkpatrick, Robert D., Kelly, Sherrie L., Norquay, Lisa D., Cattini, Peter A., Yamagata, Kazuya, Hanley, Anthony J. G., Zinman, Bernard, Harris, Stewart B., Barrett, P. Hugh, Hegele, Robert A.
Publicado em 2002

Mutation of a Gene Essential for Ribosome Biogenesis, EMG1, Causes Bowen-Conradi Syndrome

Por Armistead, Joy, Khatkar, Sunita, Meyer, Britta, Mark, Brian L., Patel, Nehal, Coghlan, Gail, Lamont, Ryan E., Liu, Shuangbo, Wiechert, Jill, Cattini, Peter A., Koetter, Peter, Wrogemann, Klaus, Greenberg, Cheryl R., Entian, Karl-Dieter, Zelinski, Teresa, Triggs-Raine, Barbara
Publicado em 2009

GPSM2 Mutations Cause the Brain Malformations and Hearing Loss in Chudley-McCullough Syndrome

Por Doherty, Dan, Chudley, Albert E., Coghlan, Gail, Ishak, Gisele E., Innes, A. Micheil, Lemire, Edmond G., Rogers, R. Curtis, Mhanni, Aizeddin A., Phelps, Ian G., Jones, Steven J.M., Zhan, Shing H., Fejes, Anthony P., Shahin, Hashem, Kanaan, Moien, Akay, Hatice, Tekin, Mustafa, Triggs-Raine, Barbara, Zelinski, Teresa
Publicado em 2012

GPSM2 Mutations Cause the Brain Malformations and Hearing Loss in Chudley-McCullough Syndrome

Por Doherty, Dan, Chudley, Albert E., Coghlan, Gail, Ishak, Gisele E., Innes, A. Micheil, Lemire, Edmond G., Rogers, R. Curtis, Mhanni, Aizeddin A., Phelps, Ian G., Jones, Steven J.M., Zhan, Shing H., Fejes, Anthony P., Shahin, Hashem, Kanaan, Moien, Akay, Hatice, Tekin, Mustafa, Triggs-Raine, Barbara, Zelinski, Teresa
Publicado em 2012

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

Por Muggenthaler, Martina M. A., Chowdhury, Biswajit, Hasan, S. Naimul, Cross, Harold E., Mark, Brian, Harlalka, Gaurav V., Patton, Michael A., Ishida, Miho, Behr, Elijah R., Sharma, Sanjay, Zahka, Kenneth, Faqeih, Eissa, Blakley, Brian, Jackson, Mike, Lees, Melissa, Dolinsky, Vernon, Cross, Leroy, Stanier, Philip, Salter, Claire, Baple, Emma L., Alkuraya, Fowzan S., Crosby, Andrew H., Triggs-Raine, Barbara, Chioza, Barry A.
Publicado no PLoS Genet (2017)