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Inflammatory Bowel Diseases|May 23, 2018
Sphingosine-1-Phosphate Signaling and Metabolism Gene Signature in Pediatric Inflammatory Bowel Disease: A Matched-case Control Pilot StudyJung H Suh, Émilie Degagné, Elizabeth E Gleghorn, et al.
JCI Insight|March 23, 2021
Efficacy of AAV9-mediated SGPL1 gene transfer in a mouse model of S1P lyase insufficiency syndromePiming Zhao, Gizachew B Tassew, Joanna Y Lee, et al.
Biorxiv : the Preprint Server for Biology|May 25, 2026
Pyridoxine supplementation confers protection against SGPL1 R222Q variant sphingosine phosphate lyase insufficiency syndromeRanjha Khan, Maria L Allende, Ehtesham Khalid, et al.
Biorxiv : the Preprint Server for Biology|October 10, 2024
Super-enhancer profiling reveals ThPOK/ZBTB7B, a CD4 + cell lineage commitment factor, as a master regulator that restricts breast cancer cells to a luminal non-migratory phenotypeCamila D Arcuschin, Kamin Kahrizi, Rosalyn W Sayaman, et al.
Research Square|April 16, 2025
Super-enhancer profiling reveals ThPOK/ZBTB7B, a CD4+ cell lineage commitment factor, as a master regulator that restricts breast cancer cells to a luminal non-migratory phenotypeDenise Paula Muñoz, Camila D Arcuschin, Kamin Kahrizi, et al.
Cellular and Molecular Life Sciences : CMLS|November 13, 2025
Super-enhancer profiling reveals ThPOK/ZBTB7B, a CD4+ cell lineage commitment factor, as a master regulator that restricts breast cancer cells to a luminal non-migratory phenotypeCamila D Arcuschin, Kamin Kahrizi, Rosalyn W Sayaman, et al.
Radiation Research|January 26, 2010
Synopsis of partial-body radiation diagnostic biomarkers and medical management of radiation injury workshopPataje G S Prasanna, William F Blakely, Jean-Marc Bertho, et al.
Medrxiv : the Preprint Server for Health Sciences|April 29, 2025
A novel splice site variant in DEGS1 leads to aberrant splicing and loss of DEGS1 enzyme activity, a VUS resolvedHolly C Beale, Victor Tse, Joanna Y Lee, et al.
Human Genetics|May 6, 2026
A novel splice site variant in DEGS1 leads to aberrant splicing and loss of DEGS1 enzyme activity, a VUS resolvedHolly C Beale, Victor Tse, Joanna Y Lee, et al.
Journal of Inherited Metabolic Disease|April 2, 2020
Responsiveness of sphingosine phosphate lyase insufficiency syndrome to vitamin B6 cofactor supplementationPiming Zhao, Isaac D Liu, Jeffrey B Hodgin, et al.
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