Associated Papers
ROSAH syndrome lacking splenomegaly and complete anhidrosis.
Dutra LG et al.
Bmj Case Reports, 2026
Ocular Manifestations of ROSAH Syndrome Caused by Different Mutations of the ALPK1 Gene.
Sun Z et al.
American Journal of Ophthalmology, 2026
Tocilizumab as a treatment tool for ROSAH syndrome: a case report.
Teixeira-Martins R et al.
Journal of Ophthalmic Inflammation and Infection, 2025
Discovery of a selective alpha-kinase 1 inhibitor for the rare genetic disease ROSAH syndrome.
Fan J et al.
Nature Communications, 2025
Crosstalk Between ALPK1 and STING: A Synergistic Axis in Innate Immune Activation and Human Inflammatory Disease.
Shi CS et al.
Biorxiv : the Preprint Server for Biology, 2025
Two Cases of ROSAH-Like Syndrome Restricted to the Ophthalmologic Presentation.
Mourozeau L et al.
Ocular Immunology and Inflammation, 2025
ROSAH syndrome presenting with recurrent vitreous hemorrhage: a multimodal imaging study.
Hong R et al.
Ophthalmic Genetics, 2025
[Monogenic autoinflammatory uveitis].
Lequain H et al.
La Revue De Medecine Interne, 2025
IFN-γ licenses normal and pathogenic ALPK1/TIFA pathway in human monocytes.
Martin A et al.
Iscience, 2025
Case Report: ROSAH syndrome presents diagnostic and therapeutic challenges.
Shunyakova J et al.
Frontiers in Ophthalmology, 2025
Hyperinflammation and Blindness. Screening for ROSAH Syndrome.
Tornero-Romero F et al.
European Journal of Case Reports in Internal Medicine, 2025
Immune function analysis in a pediatric patient with a de novo ALPK1 gene mutation.
Chuan X et al.
Frontiers in Immunology, 2025
Discovery and functional analysis of a novel ALPK1 variant in ROSAH syndrome.
Snelling T et al.
Open Biology, 2024
Quantitative Measurement of the Kinase Activity of Wildtype ALPK1 and Disease-Causing ALPK1 Mutants Using Cell-Free Radiometric Phosphorylation Assays.
Snelling T
Bio-protocol, 2024
Measurement of the Activity of Wildtype and Disease-Causing ALPK1 Mutants in Transfected Cells With a 96-Well Format NF-κB/AP-1 Reporter Assay.
Snelling T
Bio-protocol, 2024
ALPK1 mutants causing ROSAH syndrome or Spiradenoma are activated by human nucleotide sugars.
Snelling T et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
In vitro kinase assay reveals ADP-heptose-dependent ALPK1 autophosphorylation and altered kinase activity of disease-associated ALPK1 mutants.
García-Weber D et al.
Scientific Reports, 2023
Ophthalmic Manifestations of ROSAH (Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, and Headache) Syndrome, an Inherited NF κB-Mediated Autoinflammatory Disease with Retinal Dystrophy.
Huryn LA et al.
Ophthalmology, 2023
Genetics of migraine: Delineation of contemporary understanding of the genetic underpinning of migraine.
de Boer I et al.
Handbook of Clinical Neurology, 2023
Gain-of-function mutations in ALPK1 cause an NF-κB-mediated autoinflammatory disease: functional assessment, clinical phenotyping and disease course of patients with ROSAH syndrome.
Kozycki CT et al.
Annals of the Rheumatic Diseases, 2022
The Clinical Chameleon of Autoinflammatory Diseases in Children.
Sangiorgi E et al.
Cells, 2022
Early Onset of TNFα-Driven Arthritis, Auto-inflammation, and Progressive Loss of Vision in a Patient with ALPK1 Mutation.
Hecker J et al.
Journal of Clinical Immunology, 2022
A review of migraine genetics: gathering genomic and transcriptomic factors.
Dias A et al.
Human Genetics, 2022
ALPK1 Gene Mutations Drive Autoinflammation with Ectodermal Dysplasia and Progressive Vision Loss.
Jamilloux Y et al.
Journal of Clinical Immunology, 2021
Juvenile Onset Splenomegaly and Oculopathy Due to Germline Mutation in ALPK1.
Zhong L et al.
Journal of Clinical Immunology, 2020
ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorder.
Williams LB et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Rare missense variants in the ALPK1 gene may predispose to periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome.
Sangiorgi E et al.
European Journal of Human Genetics : Ejhg, 2019
Advances in genetics of migraine.
Sutherland HG et al.
The Journal of Headache and Pain, 2019
Autoinflammatory syndromes behind the scenes of recurrent fevers in children.
Rigante D
Medical Science Monitor : International Medical Journal of Experimental and Clinical Research, 2009
Inherited retinal disease-associated uveitis.
Hung JH et al.
Survey of Ophthalmology, 0