日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

TREX tetramer disruption alters RNA processing necessary for corticogenesis in THOC6 Intellectual Disability Syndrome

TREX 四聚体的破坏改变了 THOC6 智力障碍综合征中皮质生成所必需的 RNA 加工

Elizabeth A Werren, Geneva R LaForce, Anshika Srivastava, Delia R Perillo, Shaokun Li, Katherine Johnson, Safa Baris, Brandon Berger, Samantha L Regan, Christian D Pfennig, Sonja de Munnik, Rolph Pfundt, Malavika Hebbar, Raúl Jimenez-Heredia, Elif Karakoc-Aydiner, Ahmet Ozen, Jasmin Dmytrus, Ana Kro

Mechanisms of mRNA processing defects in inherited THOC6 intellectual disability syndrome

遗传性 THOC6 智力障碍综合征的 mRNA 处理缺陷机制

Elizabeth Werren, Geneva LaForce, Anshika Srivastava, Delia Perillo, Katherine Johnson, Brandon Berger, Samantha Regan, Christian Pfennig, Safa Baris, Sonja de Munnik, Rolph Pfundt, Malavika Hebbar, Raul Jimenez Heredia, Elif Karakoc-Aydiner, Ahmet Ozen, Jasmin Dmytrus, Ana Krolo, Ken Corning, Elois

Curation and expansion of Human Phenotype Ontology for defined groups of inborn errors of immunity

针对特定先天性免疫缺陷群体,对人类表型本体进行整理和扩展

Haimel, Matthias; Pazmandi, Julia; Heredia, Raúl Jiménez; Dmytrus, Jasmin; Bal, Sevgi Köstel; Zoghi, Samaneh; van Daele, Paul; Briggs, Tracy A; Wouters, Carine; Bader-Meunier, Brigitte; Aeschlimann, Florence A; Caorsi, Roberta; Eleftheriou, Despina; Hoppenreijs, Esther; Salzer, Elisabeth; Bakhtiar, Shahrzad; Derfalvi, Beata; Saettini, Francesco; Kusters, Maaike A A; Elfeky, Reem; Trück, Johannes; Rivière, Jacques G; van der Burg, Mirjam; Gattorno, Marco; Seidel, Markus G; Burns, Siobhan; Warnatz, Klaus; Hauck, Fabian; Brogan, Paul; Gilmour, Kimberly C; Schuetz, Catharina; Simon, Anna; Bock, Christoph; Hambleton, Sophie; de Vries, Esther; Robinson, Peter N; van Gijn, Marielle; Boztug, Kaan

Novel PGM3 mutation in two siblings with combined immunodeficiency and childhood bullous pemphigoid: a case report and review of the literature

两名患有联合免疫缺陷和儿童大疱性类天疱疮的兄弟姐妹中发现新的PGM3突变:病例报告及文献综述

Fallahi, Mazdak; Jamee, Mahnaz; Enayat, Javad; Abdollahimajd, Fahimeh; Mesdaghi, Mehrnaz; Khoddami, Maliheh; Segarra-Roca, Anna; Frohne, Alexandra; Dmytrus, Jasmin; Keramatipour, Mohammad; Mansouri, Mahboubeh; Eslamian, Golnaz; Fallah, Shahrzad; Boztug, Kaan; Chavoshzadeh, Zahra

Germline biallelic mutation affecting the transcription factor Helios causes pleiotropic defects of immunity

影响转录因子 Helios 的种系双等位基因突变导致免疫的多效性缺陷

Tala Shahin, Hye Sun Kuehn, Mohamed R Shoeb, Lisa Gawriyski, Sarah Giuliani, Peter Repiscak, Birgit Hoeger, Özlem Yüce Petronczki, Sevgi Köstel Bal, Samaneh Zoghi, Jasmin Dmytrus, Davide Seruggia, Irinka Castanon, Nima Rezaei, Markku Varjosalo, Florian Halbritter, Sergio D Rosenzweig, Kaan Boztug

Genomic Spectrum and Phenotypic Heterogeneity of Human IL-21 Receptor Deficiency

人类IL-21受体缺陷的基因组谱和表型异质性

Cagdas, Deniz; Mayr, Daniel; Baris, Safa; Worley, Lisa; Langley, David B; Metin, Ayse; Aytekin, Elif Soyak; Atan, Raziye; Kasap, Nurhan; Bal, Sevgi Köstel; Dmytrus, Jasmin; Heredia, Raul Jimenez; Karasu, Gulsun; Torun, Selda Hancerli; Toyran, Muge; Karakoc-Aydiner, Elif; Christ, Daniel; Kuskonmaz, Baris; Uçkan-Çetinkaya, Duygu; Uner, Aysegul; Oberndorfer, Felicitas; Schiefer, Ana-Iris; Uzel, Gulbu; Deenick, Elissa K; Keller, Baerbel; Warnatz, Klaus; Neven, Bénédicte; Durandy, Anne; Sanal, Ozden; Ma, Cindy S; Özen, Ahmet; Stepensky, Polina; Tezcan, Ilhan; Boztug, Kaan; Tangye, Stuart G

CD70 Deficiency Associated With Chronic Epstein-Barr Virus Infection, Recurrent Airway Infections and Severe Gingivitis in a 24-Year-Old Woman

CD70 缺乏症与 24 岁女性慢性 Epstein-Barr 病毒感染、反复呼吸道感染和严重牙龈炎有关

Renate Krüger, Emmanuel Martin, Jasmin Dmytrus, Cornelia Feiterna-Sperling, Christian Meisel, Nadine Unterwalder, Uwe Kölsch, Volker Wahn, Jörg Hofmann, Paula Korn, Sylvain Latour, Kaan Boztug, Horst von Bernuth

CD137 deficiency causes immune dysregulation with predisposition to lymphomagenesis

CD137 缺陷会导致免疫失调,并易导致淋巴瘤发生。

Somekh, Ido; Thian, Marini; Medgyesi, David; Gülez, Nesrin; Magg, Thomas; Gallón Duque, Alejandro; Stauber, Tali; Lev, Atar; Genel, Ferah; Unal, Ekrem; Simon, Amos J; Lee, Yu Nee; Kalinichenko, Artem; Dmytrus, Jasmin; Kraakman, Michael J; Schiby, Ginette; Rohlfs, Meino; Jacobson, Jeffrey M; Özer, Erdener; Akcal, Ömer; Conca, Raffaele; Patiroglu, Türkan; Karakukcu, Musa; Ozcan, Alper; Shahin, Tala; Appella, Eliana; Tatematsu, Megumi; Martinez-Jaramillo, Catalina; Chinn, Ivan K; Orange, Jordan S; Trujillo-Vargas, Claudia Milena; Franco, José Luis; Hauck, Fabian; Somech, Raz; Klein, Christoph; Boztug, Kaan

F-BAR domain only protein 1 (FCHO1) deficiency is a novel cause of combined immune deficiency in human subjects

F-BAR 结构域唯一蛋白 1 (FCHO1) 缺乏是人类联合免疫缺陷的新原因

Enrica Calzoni, Craig D Platt, Sevgi Keles, Hye Sun Kuehn, Sarah Beaussant-Cohen, Yu Zhang, Julia Pazmandi, Gaetana Lanzi, Francesca Pala, Azzeddine Tahiat, Hasibe Artac, Raul Jimenez Heredia, Jasmin Dmytrus, Ismail Reisli, Vedat Uygun, Dilara Uygun, Aysen Bingol, Erdem Basaran, Kamel Djenouhat, Naf

Targeted mutation screening of 292 candidate genes in 38 children with inborn haematological cytopenias efficiently identifies novel disease-causing mutations

对38名患有先天性血液细胞减少症的儿童的292个候选基因进行靶向突变筛查,可有效识别新的致病突变。

Kager, Leo; Jimenez Heredia, Raúl; Hirschmugl, Tatjana; Dmytrus, Jasmin; Krolo, Ana; Müller, Heiko; Bock, Christoph; Zeitlhofer, Petra; Dworzak, Michael; Mann, Georg; Holter, Wolfgang; Haas, Oskar; Boztug, Kaan