24 results on '"Rice, Gillian I"'
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2. An open-label trial of JAK 1/2 blockade in progressive IFIH1-associated neuroinflammation
3. Musculoskeletal Disease in MDA5‐Related Type I Interferonopathy: A Mendelian Mimic of Jaccoudʼs Arthropathy
4. Tartrate‐Resistant Acid Phosphatase Deficiency in the Predisposition to Systemic Lupus Erythematosus
5. Aicardi–Goutières syndrome harbours abundant systemic and brain-reactive autoantibodies
6. Stimulator of Interferon Genes–Associated Vasculopathy With Onset in Infancy : A Mimic of Childhood Granulomatosis With Polyangiitis
7. Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1
8. Homozygous N-terminal missense mutation in TRNT1 leads to progressive B-cell immunodeficiency in adulthood
9. Human intracellular ISG15 prevents interferon-α/β over-amplification and auto-inflammation
10. Mutations in ADAR1, IFIH1, and RNASEH2B Presenting As Spastic Paraplegia
11. Inherited STING-activating mutation underlies a familial inflammatory syndrome with lupus-like manifestations
12. Leukoencephalopathy with Calcifications and Cysts: A Purely Neurological Disorder Distinct from Coats Plus
13. A type I interferon signature identifies bilateral striatal necrosis due to mutations in ADAR1
14. PRKDC mutations associated with immunodeficiency, granuloma, and autoimmune regulator–dependent autoimmunity
15. Protein Kinase Cδ Deficiency Causes Mendelian Systemic Lupus Erythematosus With B Cell-Defective Apoptosis and Hyperproliferation
16. Synonymous Mutations in RNASEH2A Create Cryptic Splice Sites Impairing RNase H2 Enzyme Function in Aicardi–Goutières Syndrome
17. SAMHD1 is a Nucleic-Acid Binding Protein That is Mislocalized Due to Aicardi–GoutiÈRes Syndrome-Associated Mutations
18. HIV-1 restriction factor SAMHD1 is a deoxynucleoside triphosphate triphosphohydrolase
19. A Functional XPNPEP2 Promoter Haplotype Leads to Reduced Plasma Aminopeptidase P and Increased Risk of ACE Inhibitor-Induced Angioedema
20. Autosomal dominant inheritance of a heterozygous mutation in SAMHD1 causing familial chilblain lupus
21. A de novo p.Asp18Asn mutation in TREX1 in a patient with Aicardi-Goutières syndrome
22. Intracerebral large artery disease in Aicardi–Goutières syndrome implicates SAMHD1 in vascular homeostasis
23. Cutaneous histopathological findings of Aicardi–Goutières syndrome, overlap with chilblain lupus
24. ACEH/ACE2 is a novel mammalian metallocarboxypeptidase and a homologue of angiotensin-converting enzyme insensitive to ACE inhibitors
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