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Page 1
JAK inhibitors to treat STAT3 gain-of-function: a single-center report and literature review.
Atschekzei F, Traidl S, Carlens J, Schütz K, von Hardenberg S, Elsayed A, Ernst D, Risser L, Thiele T, Graalmann T, Raab J, Baumann U, Witte T, Sogkas G. Atschekzei F, et al. Among authors: von hardenberg s. Front Immunol. 2024 Aug 23;15:1400348. doi: 10.3389/fimmu.2024.1400348. eCollection 2024. Front Immunol. 2024. PMID: 39247195 Free PMC article. Review.
Analyses of 1236 genotyped primary ciliary dyskinesia individuals identify regional clusters of distinct DNA variants and significant genotype-phenotype correlations.
Raidt J, Riepenhausen S, Pennekamp P, Olbrich H, Amirav I, Athanazio RA, Aviram M, Balinotti JE, Bar-On O, Bode SFN, Boon M, Borrelli M, Carr SB, Crowley S, Dehlink E, Diepenhorst S, Durdik P, Dworniczak B, Emiralioğlu N, Erdem E, Fonnesu R, Gracci S, Große-Onnebrink J, Gwozdziewicz K, Haarman EG, Hansen CR, Hogg C, Holgersen MG, Kerem E, Körner RW, Kötz K, Kouis P, Loebinger MR, Lorent N, Lucas JS, Maj D, Mall MA, Marthin JK, Martinu V, Mazurek H, Mitchison HM, Nöthe-Menchen T, Özçelik U, Pifferi M, Pogorzelski A, Ringshausen FC, Roehmel JF, Rovira-Amigo S, Rumman N, Schlegtendal A, Shoemark A, Sperstad Kennelly S, Staar BO, Sutharsan S, Thomas S, Ullmann N, Varghese J, von Hardenberg S, Walker WT, Wetzke M, Witt M, Yiallouros P, Zschocke A, Ziętkiewicz E, Nielsen KG, Omran H. Raidt J, et al. Among authors: von hardenberg s. Eur Respir J. 2024 Aug 8;64(2):2301769. doi: 10.1183/13993003.01769-2023. Print 2024 Aug. Eur Respir J. 2024. PMID: 38871375 Free PMC article.
Phenotypic and pathomechanistic overlap between tapasin and TAP deficiencies.
Elsayed A, von Hardenberg S, Atschekzei F, Graalmann T, Jänke C, Witte T, Ringshausen FC, Sogkas G. Elsayed A, et al. Among authors: von hardenberg s. J Allergy Clin Immunol. 2024 Oct;154(4):1069-1075. doi: 10.1016/j.jaci.2024.06.003. Epub 2024 Jun 10. J Allergy Clin Immunol. 2024. PMID: 38866210 Free article.
Diagnostic genomic sequencing in critically ill children.
Auber B, Schmidt G, Du C, von Hardenberg S. Auber B, et al. Among authors: von hardenberg s. Med Genet. 2023 Jun 13;35(2):105-112. doi: 10.1515/medgen-2023-2015. eCollection 2023 Jun. Med Genet. 2023. PMID: 38840860 Free PMC article.
Current genetic diagnostics in inborn errors of immunity.
von Hardenberg S, Klefenz I, Steinemann D, Di Donato N, Baumann U, Auber B, Klemann C. von Hardenberg S, et al. Front Pediatr. 2024 Apr 10;12:1279112. doi: 10.3389/fped.2024.1279112. eCollection 2024. Front Pediatr. 2024. PMID: 38659694 Free PMC article. Review.
SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation.
Nashabat M, Nabavizadeh N, Saraçoğlu HP, Sarıbaş B, Avcı Ş, Börklü E, Beillard E, Yılmaz E, Uygur SE, Kayhan CK, Bosco L, Eren ZB, Steindl K, Richter MF, Bademci G, Rauch A, Fattahi Z, Valentino ML, Connolly AM, Bahr A, Viola L, Bergmann AK, Rocha ME, Peart L, Castro-Rojas DL, Bültmann E, Khan S, Giarrana ML, Teleanu RI, Gonzalez JM, Pini A, Schädlich IS, Vill K, Brugger M, Zuchner S, Pinto A, Donkervoort S, Bivona SA, Riza A; Undiagnosed Diseases Network; Streata I, Gläser D, Baquero-Montoya C, Garcia-Restrepo N, Kotzaeridou U, Brunet T, Epure DA, Bertoli-Avella A, Kariminejad A, Tekin M, von Hardenberg S, Bönnemann CG, Stettner GM, Zanni G, Kayserili H, Oflazer ZP, Escande-Beillard N. Nashabat M, et al. Among authors: von hardenberg s. Nat Commun. 2024 Feb 27;15(1):1758. doi: 10.1038/s41467-024-45933-5. Nat Commun. 2024. PMID: 38413582 Free PMC article.
Biallelic loss-of-function variants in CACHD1 cause a novel neurodevelopmental syndrome with facial dysmorphism and multisystem congenital abnormalities.
Scala M, Khan K, Beneteau C, Fox RG, von Hardenberg S, Khan A, Joubert M, Fievet L, Musquer M, Le Vaillant C, Holsclaw JK, Lim D, Berking AC, Accogli A, Giacomini T, Nobili L, Striano P, Zara F, Torella A, Nigro V, Cogné B, Salick MR, Kaykas A, Eggan K, Capra V, Bézieau S, Davis EE, Wells MF. Scala M, et al. Among authors: von hardenberg s. Genet Med. 2024 Apr;26(4):101057. doi: 10.1016/j.gim.2023.101057. Epub 2023 Dec 27. Genet Med. 2024. PMID: 38158856 Free article.
Multilamellated Basement Membranes in the Capillary Network of Alveolar Capillary Dysplasia.
Kamp JC, Neubert L, Schupp JC, Braubach P, Wrede C, Laenger F, Salditt T, Reichmann J, Welte T, Ruhparwar A, Ius F, Schwerk N, Bergmann AK, von Hardenberg S, Griese M, Rapp C, Olsson KM, Fuge J, Park DH, Hoeper MM, Jonigk DD, Knudsen L, Kuehnel MP. Kamp JC, et al. Among authors: von hardenberg s. Am J Pathol. 2024 Feb;194(2):180-194. doi: 10.1016/j.ajpath.2023.10.012. Epub 2023 Nov 27. Am J Pathol. 2024. PMID: 38029923
34 results