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by Kwan, Antonia and Abraham, Roshini S and Currier, Robert and Brower, Amy and Andruszewski, Karen and Abbott, Jordan K and Baker, Mei and Ballow, Mark and Bartoshesky, Louis E and Bonilla, Francisco A and Brokopp, Charles and Brooks, Edward and Caggana, Michele and Celestin, Jocelyn and Church, Joseph A and Comeau, Anne Marie and Connelly, James A and Cowan, Morton J and Cunningham-Rundles, Charlotte and Dasu, Trivikram and Dave, Nina and De La Morena, Maria T and Duffner, Ulrich and Fong, Chin-To and Forbes, Lisa and Freedenberg, Debra and Gelfand, Erwin W and Hale, Jaime E and Hanson, I. Celine and Hay, Beverly N and Hu, Diana and Infante, Anthony and Johnson, Daisy and Kapoor, Neena and Kay, Denise M and Kohn, Donald B and Lee, Rachel and Lehman, Heather and Lin, Zhili and Lorey, Fred and Abdel-Mageed, Aly and Manning, Adrienne and McGhee, Sean and Moore, Theodore B and Naides, Stanley J and Notarangelo, Luigi D and Orange, Jordan S and Pai, Sung-Yun and Porteus, Matthew and Rodriguez, Ray and Romberg, Neil and Routes, John and Ruehle, Mary and Rubenstein, Arye and Saavedra-Matiz, Carlos A and Scott, Ginger and Scott, Patricia M and Secord, Elizabeth and Seroogy, Christine and Shearer, William T and Siegel, Subhadra and Silvers, Stacy K and Stiehm, E. Richard and Sugerman, Robert W and Sullivan, John L and Tanksley, Susan and Tierce, Millard L and Verbsky, James and Vogel, Beth and Walker, Rosalyn and Walkovich, Kelly and Walter, Jolan E and Wasserman, Richard L and Watson, Michael S and Weinberg, Geoffrey A and Weiner, Leonard B and Wood, Heather and Yates, Anne B and Puck, Jennifer M
JAMA, ISSN 0098-7484, 08/2014, Volume 312, Issue 7, pp. 729 - 738
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 12/2017, Volume 114, Issue 52, pp. 13720 - 13725
Plasma membrane (PM) phosphoinositides play essential roles in cell physiology, serving as both markers of membrane identity and signaling molecules central to... 
Signaling | Lipid kinase | Phosphoinositides | PHOSPHATIDYLINOSITOL 4-KINASES | SYSTEM | IMPACT | signaling | GENE | lipid kinase | CLONING | MULTIDISCIPLINARY SCIENCES | MUTATIONS | TTC7A | PLASMA-MEMBRANE | phosphoinositides | Biological Sciences
Journal Article
Gastroenterology, ISSN 0016-5085, 2014, Volume 146, Issue 4, pp. 1028 - 1039
Journal Article
Journal of Molecular Biology, ISSN 0022-2836, 09/2018, Volume 430, Issue 18, pp. 3129 - 3142
Phosphatidylinositol 4-kinase IIIα (PI4KIIIα) is the lipid kinase primarily responsible for generating the lipid phosphatidylinositol 4-phosphate (PI4P) at the... 
PI4KA | FAM126 | TTC7 | HDX-MS | phosphatidylinositol 4-kinase | C VIRUS-REPLICATION | EXCHANGE MASS-SPECTROMETRY | PROTEIN | BIOCHEMISTRY & MOLECULAR BIOLOGY | EM STRUCTURE DETERMINATION | PLASMA-MEMBRANE | MULTIPLE INTESTINAL ATRESIA | COMBINED IMMUNODEFICIENCY | III-ALPHA | PHOSPHATIDYLINOSITOL 4-KINASE ALPHA | TTC7A MUTATIONS
Journal Article
Journal of Parenteral and Enteral Nutrition, ISSN 0148-6071, 01/2018, Volume 42, Issue 1, pp. 239 - 246
Purpose Severe combined immunodeficiency (SCID) screening by T‐cell receptor excision circles (TREC) has been part of Massachusetts routine newborn screening... 
TRECs | intestinal failure | newborn screening | SCID | citrulline | short bowel syndrome | NUTRITION & DIETETICS | ARGININE | PROTEIN-LOSING ENTEROPATHY | TTC7A MUTATIONS | CITRULLINE CONCENTRATION | CHILDREN
Journal Article
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 01/2014, Volume 94, Issue 1, pp. 73 - 79
Journal Article
Journal Article
International Review of Cell and Molecular Biology, ISSN 1937-6448, 01/2018, Volume 337, pp. 49 - 81
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2014, Volume 134, Issue 6, pp. 1354 - 1364.e6