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Biallelic PI4KA Mutations Disrupt B-Cell Metabolism and Cause B-Cell Lymphopenia and Hypogammaglobulinemia.
Saettini F, Guerra F, Mauri M, Salter CG, Adam MP, Adams D, Baple EL, Barredo E, Bhatia S, Borkhardt A, Brusco A, Bugarin C, Chinello C, Crosby AH, D'Souza P, Denti V, Fazio G, Giuliani S, Kuehn HS, Amel H, Elmi A, Lo B, Malighetti F, Mandrile G, Martín-Nalda A, Mefford HC, Moratto D, Emam Mousavi F, Nelson Z, Gutiérrez-Solana LG, Macnamara E, Michaud V, O'Leary M, Pagani L, Pavinato L, Santamaria PV, Planas-Serra L, Quadri M, Raspall-Chaure M, Rebellato S, Rosenzweig SD, Roubertie A, Holzinger D, Deal C, Vockley CW, Savino AM, L Stoddard J, Uhlig HH, Pujol A, Magni F, Paglia G, Cazzaniga G, Piazza R, Barberis M, Biondi A. Saettini F, et al. Among authors: uhlig hh. J Clin Immunol. 2024 Sep 23;45(1):15. doi: 10.1007/s10875-024-01793-8. J Clin Immunol. 2024. PMID: 39312004
Cellular and molecular basis of proximal small intestine disorders.
Bildstein T, Charbit-Henrion F, Azabdaftari A, Cerf-Bensussan N, Uhlig HH. Bildstein T, et al. Among authors: uhlig hh. Nat Rev Gastroenterol Hepatol. 2024 Aug 8. doi: 10.1038/s41575-024-00962-9. Online ahead of print. Nat Rev Gastroenterol Hepatol. 2024. PMID: 39117867 Review.
Neutralizing Autoantibodies against Interleukin-10 in Inflammatory Bowel Disease.
Griffin H, Ceron-Gutierrez L, Gharahdaghi N, Ebrahimi S, Davies S, Loo PS, Szabo A, Williams E, Mukhopadhyay A, McLoughlin L, Irwin S, Travis S, Klenerman P, Bunn S, Cant AJ, Hambleton S, Uhlig HH, Doffinger R. Griffin H, et al. Among authors: uhlig hh. N Engl J Med. 2024 Aug 1;391(5):434-441. doi: 10.1056/NEJMoa2312302. N Engl J Med. 2024. PMID: 39083772 Free PMC article.
Identification and validation of a blood- based diagnostic lipidomic signature of pediatric inflammatory bowel disease.
Salihovic S, Nyström N, Mathisen CB, Kruse R, Olbjørn C, Andersen S, Noble AJ, Dorn-Rasmussen M, Bazov I, Perminow G, Opheim R, Detlie TE, Huppertz-Hauss G, Hedin CRH, Carlson M, Öhman L, Magnusson MK, Keita ÅV, Söderholm JD, D'Amato M, Orešič M, Wewer V, Satsangi J, Lindqvist CM, Burisch J, Uhlig HH, Repsilber D, Hyötyläinen T, Høivik ML, Halfvarson J. Salihovic S, et al. Among authors: uhlig hh. Nat Commun. 2024 Jun 3;15(1):4567. doi: 10.1038/s41467-024-48763-7. Nat Commun. 2024. PMID: 38830848 Free PMC article.
The impact of inversions across 33,924 families with rare disease from a national genome sequencing project.
Pagnamenta AT, Yu J, Walker S, Noble AJ, Lord J, Dutta P, Hashim M, Camps C, Green H, Devaiah S, Nashef L, Parr J, Fratter C, Ibnouf Hussein R, Lindsay SJ, Lalloo F, Banos-Pinero B, Evans D, Mallin L, Waite A, Evans J, Newman A, Allen Z, Perez-Becerril C, Ryan G, Hart R, Taylor J, Bedenham T, Clement E, Blair E, Hay E, Forzano F, Higgs J, Canham N, Majumdar A, McEntagart M, Lahiri N, Stewart H, Smithson S, Calpena E, Jackson A, Banka S, Titheradge H, McGowan R, Rankin J, Shaw-Smith C, Evans DG, Burghel GJ, Smith MJ, Anderson E, Madhu R, Firth H, Ellard S, Brennan P, Anderson C, Taupin D, Rogers MT, Cook JA, Durkie M, East JE, Fowler D, Wilson L, Igbokwe R, Gardham A, Tomlinson I, Baralle D, Uhlig HH, Taylor JC. Pagnamenta AT, et al. Among authors: uhlig hh. Am J Hum Genet. 2024 Jun 6;111(6):1140-1164. doi: 10.1016/j.ajhg.2024.04.018. Epub 2024 May 21. Am J Hum Genet. 2024. PMID: 38776926 Free PMC article.
Genomic testing identifies monogenic causes in patients with very early-onset inflammatory bowel disease: a multicenter survey in an Iranian cohort.
Eslamian G, Jamee M, Momen T, Rohani P, Ebrahimi S, Mesdaghi M, Ghadimi S, Mansouri M, Mahdaviani SA, Sadeghi-Shabestari M, Fallahpour M, Shamsian BS, Eslami N, Sharafian S, Dara N, Nasri P, Amini N, Enayat J, Fallahi M, Ghasemi Hashtrodi L, Shojaei M, Guevara Becerra M, Uhlig HH, Chavoshzadeh Z. Eslamian G, et al. Among authors: uhlig hh. Clin Exp Immunol. 2024 Jun 20;217(1):1-11. doi: 10.1093/cei/uxae037. Clin Exp Immunol. 2024. PMID: 38651248
160 results