Loss of GM3 synthase gene, but not sphingosine kinase 1, is protective against murine nephronophthisis-related polycystic kidney disease

por Natoli, Thomas A., Husson, Hervé, Rogers, Kelly A., Smith, Laurie A., Wang, Bing, Budman, Yeva, Bukanov, Nikolay O., Ledbetter, Steven R., Klinger, Katherine W., Leonard, John P., Ibraghimov-Beskrovnaya, Oxana
Publicado 2012

Revised Recommendations for the Treatment of Infants Diagnosed with Spinal Muscular Atrophy Via Newborn Screening Who Have 4 Copies of SMN2

por Glascock, Jacqueline, Sampson, Jacinda, Connolly, Anne M., Darras, Basil T., Day, John W., Finkel, Richard, Howell, R. Rodney, Klinger, Katherine W., Kuntz, Nancy, Prior, Thomas, Shieh, Perry B., Crawford, Thomas O., Kerr, Douglas, Jarecki, Jill
Publicado 2020

Correction of cilia structure and function alleviates multi-organ pathology in Bardet–Biedl syndrome mice

por Husson, Hervé, Bukanov, Nikolay O, Moreno, Sarah, Smith, Mandy M, Richards, Brenda, Zhu, Cheng, Picariello, Tyler, Park, Hyejung, Wang, Bing, Natoli, Thomas A, Smith, Laurie A, Zanotti, Stefano, Russo, Ryan J, Madden, Stephen L, Klinger, Katherine W, Modur, Vijay, Ibraghimov-Beskrovnaya, Oxana
Publicado 2020