PMC Articles for MedGen (Select 344562) - PMC

Select item 94322721.

Inborn errors of immunity associated with characteristic phenotypes

Maine Luellah Demaret Bardou, Marina Teixeira Henriques, Anete Sevciovic Grumach

J Pediatr (Rio J) 2021 Mar-Apr; 97(Suppl 1): S75–S83. Published online 2020 Dec 19. doi: 10.1016/j.jped.2020.10.015

PMCID:: PMC9432272

Select item 73387192.

Partial Purine Nucleoside Phosphorylase Deficiency Helps Determine Minimal Activity Required for Immune and Neurological Development

Eyal Grunebaum, Nicholas Campbell, Matilde Leon-Ponte, Xiaobai Xu, Hugo Chapdelaine

Front Immunol. 2020; 11: 1257. Published online 2020 Jun 30. doi: 10.3389/fimmu.2020.01257

PMCID:: PMC7338719

Abstract Article PDF–892K

Select item 63697083.

Clinical, Immunological, and Molecular Findings in 57 Patients With Severe Combined Immunodeficiency (SCID) From India

Jahnavi Aluri, Mukesh Desai, Maya Gupta, Aparna Dalvi, Antony Terance, Sergio D. Rosenzweig, Jennifer L. Stoddard, Julie E. Niemela, Vasundhara Tamankar, Snehal Mhatre, Umair Bargir, Manasi Kulkarni, Nitin Shah, Amita Aggarwal, Harsha Prasada Lashkari, Vidya Krishna, Geeta Govindaraj, Manas Kalra, Manisha Madkaikar

Front Immunol. 2019; 10: 23. Published online 2019 Feb 4. doi: 10.3389/fimmu.2019.00023

PMCID:: PMC6369708

Abstract Article PDF–277K

Select item 57115274.

Lupus-Associated Functional Polymorphism in PNP Causes Cell Cycle Abnormalities and Interferon Pathway Activation in Human Immune Cells

Yogita Ghodke-Puranik, Jessica M. Dorschner, Danielle M. Vsetecka, Shreyasee Amin, Ashima Makol, Floranne Ernste, Thomas Osborn, Kevin Moder, Vaidehi Chowdhary, Elias Eliopoulos, Maria I. Zervou, George N. Goulielmos, Mark A. Jensen, Timothy B. Niewold

Arthritis Rheumatol. Author manuscript; available in PMC 2018 Dec 1.

Published in final edited form as: Arthritis Rheumatol. 2017 Dec; 69(12): 2328–2337. Published online 2017 Nov 9. doi: 10.1002/art.40304

PMCID:: PMC5711527

Abstract Article PDF–1.1M

Select item 15603475.

TAT-mediated intracellular delivery of purine nucleoside phosphorylase corrects its deficiency in mice

Ana Toro, Eyal Grunebaum

J Clin Invest. 2006 Oct 2; 116(10): 2717–2726. Published online 2006 Sep 7. doi: 10.1172/JCI25052

PMCID:: PMC1560347

Abstract Article PDF–832K

Select item 3724196.

Purine Nucleoside Phosphorylase Deficiency: EVIDENCE FOR MOLECULAR HETEROGENEITY IN TWO FAMILIES WITH ENZYME-DEFICIENT MEMBERS

William R. A. Osborne, Shi-Han Chen, Eloise R. Giblett, W. Douglas Biggar, Arthur A. Ammann, C. Ronald Scott

J Clin Invest. 1977 Sep; 60(3): 741–746. doi: 10.1172/JCI108826

PMCID:: PMC372419

Summary Page Browse PDF–995K

Select item 2820767.

Design of vectors for efficient expression of human purine nucleoside phosphorylase in skin fibroblasts from enzyme-deficient humans.

W R Osborne, A D Miller

Proc Natl Acad Sci U S A. 1988 Sep; 85(18): 6851–6855. doi: 10.1073/pnas.85.18.6851

PMCID:: PMC282076

Summary Page Browse PDF–1.2M

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