The Pediatric Congenital Diarrhea and Enteropathies Consortium
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  • Home
  • About Us
  • Learn more
    • Consortium Centers
    • Participating In Research
    • Patient Information and Resources
    • CODE Disorders
    • FAQs
  • Research
    • Studies
    • Collaborating with PediCODE
    • Publications
  • Healthcare Professionals
    • Referring Patients
    • Pathology Info & Referral
    • Evaluation Guidelines
    • Nutritional Management of CODEs
    • CODE Genes
  • CODE Atlas
  • Contact
  • Login

Selected Publications

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  • Publications

  • Harris CR, McKinley ET, Roland JT, Liu Q, Shrubsole MJ, Lau KS, Coffey RJ, Wrobel J, Vandekar SN. Quantifying and correcting slide-to-slide variation in multiplexed immunofluorescence images. 2022. Bioinformatics . 38(6), 1700-1707. PMC8896603
    PDFPUBMED
  • Luong P, Li Q, Chen PF, Wrighton PJ, Chang D, Dwyer S, Bayer MT, Snapper SB, Hansen SH, Thiagarajah JR, Goessling W, Lencer WI.. A quantitative single-cell assay for retrograde membrane traffic enables rapid detection of defects in cellular organization. 2020. Mol Biol Cell. 31, 511-519. PMC7202069
    PDFPUBMED
  • Nelms B, Dalomba NF, Lencer W.. A targeted RNAi screen identifies factors affecting diverse stages of receptor-mediated transcytosis. 2017. J Cell Biol. 216, 511-525. PMC5294788
    PDFPUBMED

  • Spector Cohen I, Belza C, Courtney-Martin G, Srbely V, Wales PW, Muise A, Avitzur Y. Improved long-term outcome of children with congenital diarrhea followed by an intestinal rehabilitation program. 2024. J Pediatr Gastroenterol Nutr. 38828718
    PDFPUBMED
  • Avitzur Y, Jimenez L, Martincevic I, Acra S, Courtney-Martin G, Gray M, Hope K, Muise A, Prieto Jimenez PM, Taylor N, Thiagarajah JR, Martín MG, PediCODE Consortium. Diet Management in Congenital Diarrheas and Enteropathies – General Concepts and Disease-Specific Approach, a Narrative Review. 2024. The American Journal of Clinical Nutrition. Pre-Proof
    PDFPUBMED
  • LeBlanc C, Schlegel C, Robinson JR, Thomsen K, Goldenring JR, Acra S.. The Financial Burden of an Undiagnosed Congenital Diarrhea Disorder. 2020. J Pediatr Gastroenterol Nutr. 71, 145-146
    PDFPUBMED
  • Thiagarajah JR, Kamin DS, Acra S, Goldsmith JD, Roland JT, Lencer WI, Muise AM, Goldenring JR, Avitzur Y, Martín MG; PediCODE Consortium.. Advances in Evaluation of Chronic Diarrhea in Infants. 2018. Gastroenterology. 154, 2045-2059. PMC6044208
    PDFPUBMED

  • Babcock SJ, Flores-Marin D, Thiagarajah JR. The genetics of monogenic intestinal epithelial disorders. 2022. Human Genetics. 142(5), 613-654. PMC10182130
    PDFPUBMED
  • Crowley E, Warner N, Pan J, Khalouei S, Elkadri A, Fiedler K, Foong J, Turinsky AL, Bronte-Tinkew D, Zhang S, Hu J, Tian D, Li D, Horowitz J, Siddiqui I, Upton J, Roifman CM, Church PC, Wall DA, Ramani AK, Kotlarz D, Klein C, Uhlig H, Snapper SB, Gonzaga-Jauregui C, Paterson AD, McGovern DPB, Brudno M, Walters TD, Griffiths AM, Muise AM.. Prevalence and Clinical Features of Inflammatory Bowel Diseases Associated With Monogenic Variants, Identified by Whole-Exome Sequencing in 1000 Children at a Single Center. 2020. Gastro. 58, 2208-2220.
    PDFPUBMED

  • Solorzano-Vargas RS, Bjerknes M, Wang J, Wu SV, Garcia-Careaga MG, Pitukcheewanont P, Cheng H, German MS, Georgia S, Martín MG.. Null mutations of NEUROG3 are associated with delayed-onset diabetes mellitus. 2020. JCI Insight. 5, e127657.. PMC7030873
    PDFPUBMED

  • Culbreath K, Keefe G, Nes E, Knell J, Han SM, Chugh P, Han GY, Carey AN, Jimenez L, Thiagarajah JR. Intestinal atresias and intestinal failure in patients with TTC7A mutations. 2022. Journal of Pediatric Surgery Case Reports. 80, 102247, ISSN 2213-5766
    PDFPUBMED
  • Jardine S, Anderson S, Babcock S, Leung G, Pan J, Dhingani N, Warner N, Guo C, Siddiqui I, Kotlarz D, Dowling JJ, Melnyk RA, Snapper SB, Klein C, Thiagarajah JR, Muise AM.. Drug Screen Identifies Leflunomide for Treatment of Inflammatory Bowel Disease Caused by TTC7A Deficiency. 2020. Gastroenterology. 158, 1000-1015. PMC7062591
    PDFPUBMED
  • Jardine S, Dhingani N, Muise AM.. TTC7A: Steward of Intestinal Health. 2019. Cell Mol Gastroenterol Hepatol. 7, 555-570. PMC6406079
    PDFPUBMED

  • Kaji, I, Thiagarajah, JR, Goldenring, JR. Modeling the cell biology of monogenetic intestinal epithelial disorders. 2024. J. Cell Biol. 223(7). In press.
  • Burman A, Momoh M, Sampson L, Skelton J, Roland JT, Ramos C, Krystofiak E, Acra S, Goldenring JR, Kaji I. Modeling of a Novel Patient-Based MYO5B Point Mutation Reveals Insights Into MVID Pathogenesis. 2023. Cell Mol Gastroenterol Hepatol. 15(4), 1022-1026. PMC10041088
    PDFPUBMED
  • Joseph I, Flores J, Farrell V, Davis J, Bianchi-Smak J, Feng Q, Goswami S, Lin X, Wei Z, Tong K, Feng Z, Verzi MP, Bonder EM, Goldenring JR, Gao N. RAB11A and RAB11B control mitotic spindle function in intestinal epithelial progenitor cells. 2023. EMBO Rep. 24(9), e56240. PMC10481667
    PDFPUBMED
  • Kalashyan M, Raghunathan K, Oller H, Bayer MT, Jimenez L, Roland JT, Kolobova E, Hagen SJ, Goldsmith JD, Shub MD, Goldenring JR, Kaji I, Thiagarajah JR. Patient-derived enteroids provide a platform for the development of therapeutic approaches in microvillus inclusion disease. 2023. J Clin Invest. 133(20), e169234. PMC10575727
    PDFPUBMED
  • Jäverfelt S, Hellsén G, Kaji I, Goldenring JR, Pelaseyed T. The MYO1B and MYO5B motor proteins and the SNX27 sorting nexin regulate membrane mucin MUC17 trafficking in enterocytes. 2023. bioRxiv [Preprint]. PMC10028800
    PUBMED
  • Deanna M. Bowman, Izumi Kaji, James R. Goldenring. Altered MYO5B Function Underlies Microvillus Inclusion Disease: Opportunities for Intervention at a Cellular Level.. 2022. Cellular and Molecular Gastroenteroly Hepatology. 14, 553-565. PMC9304615
    PDFPUBMED
  • Amy C. Engevik, Evan S. Krystofiak, Izumi Kaji, Anne R. Meyer, Victoria G. Weis, Anna Goldstein, Alexander W. Coutts, Tamene Melkamu, Milena Saqui-Salces, James R. Goldenring. Recruitment of Polarity Complexes and Tight Junction Proteins to the Site of Apical Bulk Endocytosis. 2021. Cellular and Molecular Gastroenteroly Hepatology. 12, 59-80. PMC8082271
    PDFPUBMED
  • Michael W. Hess, Iris M. Krainer, Przemyslaw A. Filipek, Barbara Witting, Karin Gutleben, Ilja Vietor, Heinz Zoller, Denise Aldrian, Ekkehard Sturm, James R. Goldenring, Andreas R. Janecke, Thomas Müller, Lukas A. Huber, Georg F. Vogel. Advanced Microscopy for Liver and Gut Ultrastructural Pathology in Patients with MVID and PFIC Caused by MYO5B Mutations.. 2021. Journal of Clinical Medicine. 10. PMC8125609
    PDFPUBMED
  • Izumi Kaji, Joseph T Roland, Sudiksha Rathan-Kumar, Amy C Engevik, Andreanna Burman, Anna E Goldstein, Masahiko Watanabe, James R Goldenring. Cell differentiation is disrupted by MYO5B loss through Wnt/Notch imbalance.. 2021. Insight. 6. PMC8409988
    PDFPUBMED
  • Engevik AC, Coutts AW, Kaji I, Rodriguez P, Ongaratto F, Saqui-Salces M, Medida RL, Meyer AR, Kolobova E, Engevik MA, Williams JA, Shub MD, Carlson DF, Melkamu T, Goldenring JR.. Editing Myosin VB Gene to Create Porcine Model of Microvillus Inclusion Disease, With Microvillus-Lined Inclusions and Alterations in Sodium Transporters. 2020. Gastroenterology. 158, 2236-2249. PMC7282982
    PDFPUBMED
  • Kaji I, Roland JT, Watanabe M, Engevik AC, Goldstein AE, Hodges CA, Goldenring JR.. Lysophosphatidic Acid Increases Maturation of Brush Borders and SGLT1 Activity in MYO5B-deficient Mice, a Model of Microvillus Inclusion Disease. 2020. Gastroenterology. 159, 1390-1405
    PDFPUBMED
  • Schlegel C, Weis VG, Knowles BC, Lapierre LA, Martin MG, Dickman P, Goldenring JR, Shub MD. . Apical Membrane Alterations in Non-intestinal Organs in Microvillus Inclusion Disease. 2018. Digestive Diseases and Sciences. 63, 356–365 . PMC5797493
    PDFPUBMED

  • Zhang YJ, Jimenez L, Azova S, Kremen J, Chan YM, Elhusseiny AM, Saeed H, Goldsmith J, Al-Ibraheemi A, O'Connell AE, Kovbasnjuk O, Rodan L, Agrawal PB, Thiagarajah JR. Novel variants in the stem cell niche factor WNT2B define the disease phenotype as a congenital enteropathy with ocular dysgenesis. 2021. Eur J Hum Genet EJHG. 29(6), 998-1007. PMC8187348
    PDFPUBMED
  • O'Connell AE, Zhou F, Shah MS, Murphy Q, Rickner H, Kelsen J, Boyle J, Doyle JJ, Gangwani B, Thiagarajah JR, Kamin DS, Goldsmith JD, Richmond C, Breault DT, Agrawal PB.. Neonatal-Onset Chronic Diarrhea Caused by Homozygous Nonsense WNT2B Mutations. 2018. Am J Hum Genet. 103, 131-137. PMC6035368
    PDFPUBMED

  • Lostao MP, Loo DD, Hernell O, Meeuwisse G, Martin MG, Wright EM.. The Molecular Basis of Glucose Galactose Malabsorption in a Large Swedish Pedigree. 2021. Function. PMC8410129
    PDFPUBMED
  • Chan AP, Namjoshi SS, Jardack PM, Maloney L, Ardjmand A, Jackson NN, Martin MG.. Long-Term Dietary Changes in Subjects with Glucose Galactose Malabsorption Secondary to Biallelic Mutations of SLC5A1. 2021. Dig Dis Sci
    PDFPUBMED

  • Pathak SJ, Mueller JL, Okamoto K, Das B, Hertecant J, Greenhalgh L, Cole T, Pinsk V, Yerushalmi B, Gurkan OE, Yourshaw M, Hernandez E, Oesterreicher S, Naik S, Sanderson IR, Axelsson I, Agardh D, Boland CR, Martin MG, Putnam CD, Sivagnanam M. . EPCAM mutation update: Variants associated with congenital tufting enteropathy and Lynch syndrome. 2019. Human Mutation. 40, 142-161. PMC6328345
    PDFPUBMED

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