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

CXCR2 deficiency with myelokathexis caused by a novel variant: correction via CRISPR/Cas9

由一种新型变异引起的CXCR2缺陷伴骨髓滞留:通过CRISPR/Cas9技术进行矫正

Hinke, Daniëla M; Dorset, Sofie R; Bratland, Eirik; Wolff, Jonas H; Olsnes, Astrid M; Mikkelsen, Jacob Giehm; Helgeland, Lars; Bak, Rasmus O; Benneche, Andreas; Mogensen, Trine H

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

ALPK1基因功能获得性突变导致NF-κB介导的自身炎症性疾病:ROSAH综合征患者的功能评估、临床表型和疾病进程

Kozycki, Christina Torres; Kodati, Shilpa; Huryn, Laryssa; Wang, Hongying; Warner, Blake M; Jani, Priyam; Hammoud, Dima; Abu-Asab, Mones S; Jittayasothorn, Yingyos; Mattapallil, Mary J; Tsai, Wanxia Li; Ullah, Ehsan; Zhou, Ping; Tian, Xiaoying; Soldatos, Ariane; Moutsopoulos, Niki; Kao-Hsieh, Marie; Heller, Theo; Cowen, Edward W; Lee, Chyi-Chia Richard; Toro, Camilo; Kalsi, Shelley; Khavandgar, Zohreh; Baer, Alan; Beach, Margaret; Long Priel, Debra; Nehrebecky, Michele; Rosenzweig, Sofia; Romeo, Tina; Deuitch, Natalie; Brenchley, Laurie; Pelayo, Eileen; Zein, Wadih; Sen, Nida; Yang, Alexander H; Farley, Gary; Sweetser, David A; Briere, Lauren; Yang, Janine; de Oliveira Poswar, Fabiano; Schwartz, Ida Vanessa D; Silva Alves, Tamires; Dusser, Perrine; Koné-Paut, Isabelle; Touitou, Isabelle; Titah, Salah Mohamed; van Hagen, Petrus Martin; van Wijck, Rogier T A; van der Spek, Peter J; Yano, Hiromi; Benneche, Andreas; Apalset, Ellen M; Jansson, Ragnhild Wivestad; Caspi, Rachel R; Kuhns, Douglas Byron; Gadina, Massimo; Takada, Hidetoshi; Ida, Hiroaki; Nishikomori, Ryuta; Verrecchia, Elena; Sangiorgi, Eugenio; Manna, Raffaele; Brooks, Brian P; Sobrin, Lucia; Hufnagel, Robert B; Beck, David; Shao, Feng; Ombrello, Amanda K; Aksentijevich, Ivona; Kastner, Daniel L

Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasis

ATP6V1A脑病的表型和遗传谱:溶酶体稳态紊乱

Guerrini, Renzo; Mei, Davide; Kerti-Szigeti, Katalin; Pepe, Sara; Koenig, Mary Kay; Von Allmen, Gretchen; Cho, Megan T; McDonald, Kimberly; Baker, Janice; Bhambhani, Vikas; Powis, Zöe; Rodan, Lance; Nabbout, Rima; Barcia, Giulia; Rosenfeld, Jill A; Bacino, Carlos A; Mignot, Cyril; Power, Lillian H; Harris, Catharine J; Marjanovic, Dragan; Møller, Rikke S; Hammer, Trine B; Keski Filppula, Riikka; Vieira, Päivi; Hildebrandt, Clara; Sacharow, Stephanie; Maragliano, Luca; Benfenati, Fabio; Lachlan, Katherine; Benneche, Andreas; Petit, Florence; de Sainte Agathe, Jean Madeleine; Hallinan, Barbara; Si, Yue; Wentzensen, Ingrid M; Zou, Fanggeng; Narayanan, Vinodh; Matsumoto, Naomichi; Boncristiano, Alessandra; la Marca, Giancarlo; Kato, Mitsuhiro; Anderson, Kristin; Barba, Carmen; Sturiale, Luisa; Garozzo, Domenico; Bei, Roberto; Masuelli, Laura; Conti, Valerio; Novarino, Gaia; Fassio, Anna

Validation and clinical application of transactivation assays for RUNX1 variant classification

RUNX1 变异分类的转录激活检测的验证和临床应用

Decker, Melanie; Agarwal, Anupriya; Benneche, Andreas; Churpek, Jane; Duployez, Nicolas; Duvall, Adam; Ernst, Martijn P T; Förster, Alisa; Høberg-Vetti, Hildegunn; Hofmann, Inga; Nash, Michelle; Raaijmakers, Marc H G P; Tvedt, Tor H A; Vlachos, Adrianna; Schlegelberger, Brigitte; Illig, Thomas; Ripperger, Tim

A Nationwide Study of GATA2 Deficiency in Norway-the Majority of Patients Have Undergone Allo-HSCT

挪威一项全国性GATA2缺陷研究——大多数患者已接受异基因造血干细胞移植

Jørgensen, Silje F; Buechner, Jochen; Myhre, Anders E; Galteland, Eivind; Spetalen, Signe; Kulseth, Mari Ann; Sorte, Hanne S; Holla, Øystein L; Lundman, Emma; Alme, Charlotte; Heier, Ingvild; Flægstad, Trond; Fløisand, Yngvar; Benneche, Andreas; Fevang, Børre; Aukrust, Pål; Stray-Pedersen, Asbjørg; Gedde-Dahl, Tobias; Nordøy, Ingvild

Further delineation of the clinical spectrum of White-Sutton syndrome: 12 new individuals and a review of the literature

进一步阐明怀特-萨顿综合征的临床谱:新增12例病例并回顾相关文献

Murch, Oliver; Jain, Vani; Benneche, Andreas; Metcalfe, Kay; Hobson, Emma; Prescott, Katrina; Chandler, Kate; Ghali, Neeti; Carmichael, Jenny; Foulds, Nicola C; Paulsen, Julie; Smeland, Marie F; Berland, Siren; Fry, Andrew E

Bi-allelic KARS1 pathogenic variants affecting functions of cytosolic and mitochondrial isoforms are associated with a progressive and multisystem disease

影响细胞浆和线粒体亚型功能的双等位基因 KARS1 致病变异与进行性和多系统疾病有关

Gerarda Cappuccio, Camilla Ceccatelli Berti, Enrico Baruffini, Jennifer Sullivan, Vandana Shashi, Tamison Jewett, Tara Stamper, Silvia Maitz, Francesco Canonico, Anya Revah-Politi, Gabriel S Kupchik, Kwame Anyane-Yeboa, Vimla Aggarwal, Andreas Benneche, Eirik Bratland, Siren Berland, Felice D'Arco, 

Thiophenone Attenuates Enteropathogenic Escherichia coli O103:H2 Virulence by Interfering with AI-2 Signaling

噻吩酮通过干扰 AI-2 信号减弱肠致病性大肠杆菌 O103:H2 的毒力

Ingun Lund Witsø, Håkon Valen Rukke, Tore Benneche, Anne Aamdal Scheie

Synthetic brominated furanone F202 prevents biofilm formation by potentially human pathogenic Escherichia coli O103:H2 and Salmonella ser. Agona on abiotic surfaces

合成溴代呋喃酮 F202 可抑制潜在人类致病性大肠杆菌 O103:H2 和沙门氏菌属 Agona 菌株在非生物表面上的生物膜形成。

Vestby, L K; Johannesen, K C S; Witsø, I L; Habimana, O; Scheie, A A; Urdahl, A M; Benneche, T; Langsrud, S; Nesse, L L

A quorum sensing-disrupting brominated thiophenone with a promising therapeutic potential to treat luminescent vibriosis

一种具有治疗发光弧菌病潜力的群体感应干扰溴化噻吩酮。

Defoirdt, Tom; Benneche, Tore; Brackman, Gilles; Coenye, Tom; Sorgeloos, Patrick; Scheie, Anne Aamdal