Response to Tofacitinib in an Infant with Aicardi-Goutières Syndrome due to Biallelic Variants in RNU7–1

Autor: Nimri, Jena, Nguyen, Jessica, Lalani, Seema, Patel, Kalyani, Mysore, Krupa, O’Garro, Ginelle, Emrick, Lisa, Tunuguntla, Hari, Burrage, Lindsay, Vogel, Tiphanie

Publikováno v: In Clinical Immunology May 2023 250 Supplement

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Novel mutations in RNU7-1 weaken secondary RNA structure, induce MCP-1 and CXCL10 in CSF and result in Aicardi-Goutières syndrome with severe end-organ involvement

Autor: Leslie Naesens, Nemegeer, Josephine, Roelens, Filip, Vallaeys, Lore, Meuwissen, Marije, Janssens, Katrien, Verloo, Patrick, Ogunjimi, Benson, Dimitri Hemelsoet, (UD-PrOZA), Program for Undiagnosed Rare Diseases, Levi Hoste, Lisa Roels, Marieke De Bruyne, Elfride De Baere, Jo Van Dorpe, Amélie Dendooven, Anne Sieben, Rice, Gillian, Tessa Kerre, Rudi Beyaert, Uggenti, Carolina, Crow, Yanick, Tavernier, Simon J., Jonathan Maelfait, Filomeen Haerynck

Publikováno v: Ghent University Academic Bibliography

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::37ab36a2781c746715c720f25f770a51
https://biblio.ugent.be/publication/8732651

Utility of genome sequencing in exome‐negative pediatric patients with neurodevelopmental phenotypes.

Autor: Nomakuchi, Tomoki T., Teferedegn, Eden Y., Li, Dong, Muirhead, Kayla J., Dubbs, Holly, Leonard, Jacqueline, Muraresku, Colleen, Sergio, Emily, Arnold, Kaley, Pizzino, Amy, Skraban, Cara M., Zackai, Elaine H., Wang, Kai, Ganetzky, Rebecca D., Vanderver, Adeline L., Ahrens‐Nicklas, Rebecca C., Bhoj, Elizabeth J. K.

Publikováno v: American Journal of Medical Genetics. Part A; Dec2024, Vol. 194 Issue 12, p1-7, 7p

Baricitinib Treatment in RNU7-1-Associated Aicardi-Goutières Syndrome in a South African Child: A Case Report.

Autor: Spracklen TF; Department of Paediatrics and Child Health, University of Cape Town, Cape Town, South Africa.; Cape Heart Institute, University of Cape Town, Cape Town, South Africa., Akhalwaya S; Department of Paediatrics and Child Health, University of Cape Town, Cape Town, South Africa.; Cape Paediatric Rheumatology, Cape Town, South Africa., Ackermann S; Mediclinic Constantiaberg, Cape Town, South Africa., Uggenti C; MRC Human Genetics Unit, Institute of Genetics and Cancer, the University of Edinburgh, Edinburgh, UK., Seabra L; Laboratory of Neurogenetics and Neuroinflammation, University of Paris, Imagine Institute, Paris, France., Crow YJ; MRC Human Genetics Unit, Institute of Genetics and Cancer, the University of Edinburgh, Edinburgh, UK.; Laboratory of Neurogenetics and Neuroinflammation, University of Paris, Imagine Institute, Paris, France., Webb K; Department of Paediatrics and Child Health, University of Cape Town, Cape Town, South Africa.; Crick African Network, the Francis Crick Institute, London, UK.

Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2025 Jan 02, pp. e63978. Date of Electronic Publication: 2025 Jan 02.