Biology of hyaluronan: Insights from genetic disorders of hyaluronan metabolism

Autor Triggs-Raine, Barbara, Natowicz, Marvin R
Vydáno v 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

Autor Armistead, Joy, Hemming, Richard, Patel, Nehal, Triggs-Raine, Barbara
Vydáno v BBA Clin (2014)

EMG1 is essential for mouse pre-implantation embryo development

Autor Wu, Xiaoli, Sandhu, Sumit, Patel, Nehal, Triggs-Raine, Barbara, Ding, Hao
Vydáno 2010

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

Autor Myrie, Semone B, Mymin, David, Triggs-Raine, Barbara, Jones, Peter JH
Vydáno 2012

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

Autor Chowdhury, Biswajit, Hemming, Richard, Hombach-Klonisch, Sabine, Flamion, Bruno, Triggs-Raine, Barbara
Vydáno 2013

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

Autor Gushulak, Lara, Hemming, Richard, Martin, Dianna, Seyrantepe, Volkan, Pshezhetsky, Alexey, Triggs-Raine, Barbara
Vydáno 2012

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

Autor Triggs-Raine, Barbara, Salo, Timothy J., Zhang, Hong, Wicklow, Brandy A., Natowicz, Marvin R.
Vydáno 1999

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

Autor Chowdhury, Biswajit, Xiang, Bo, Liu, Michelle, Hemming, Richard, Dolinsky, Vernon W., Triggs-Raine, Barbara
Vydáno v Circ Cardiovasc Genet (2017)

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

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

Autor 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.
Vydáno 2010

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

Autor 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
Vydáno v Mol Ther (2015)

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

Autor 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
Vydáno v Sci Rep (2020)

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

Autor 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.
Vydáno 2002

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

Autor 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
Vydáno 2009

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

Autor 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
Vydáno 2012

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

Autor 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
Vydáno 2012

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

Autor 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.
Vydáno v PLoS Genet (2017)