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

Reliable genetic diagnosis of NCF1 (p47(phox))-deficient chronic granulomatous disease using high-throughput sequencing

利用高通量测序对NCF1(p47(phox))缺陷型慢性肉芽肿病进行可靠的基因诊断

Hsu, Amy P; Karlins, Eric; Lack, Justin; Pepper, T Joseph; Lau, Karen; Marshall-Batty, Kimberly R; Long Priel, Debra; Davis, Joie; Fink, Danielle L; Zerbe, Christa S; Gallin, John I; Malech, Harry L; Holland, Steven M; Kuhns, Douglas B

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

Immunogenetics associated with severe coccidioidomycosis

与严重球孢子菌病相关的免疫遗传学

Amy P Hsu ,Agnieszka Korzeniowska ,Cynthia C Aguilar ,Jingwen Gu ,Eric Karlins ,Andrew J Oler ,Gang Chen ,Glennys V Reynoso ,Joie Davis ,Alexandria Chaput ,Tao Peng ,Ling Sun ,Justin B Lack ,Derek J Bays ,Ethan R Stewart ,Sarah E Waldman ,Daniel A Powell ,Fariba M Donovan ,Jigar V Desai ,Nima Pouladi ,Debra A Long Priel ,Daisuke Yamanaka ,Sergio D Rosenzweig ,Julie E Niemela ,Jennifer Stoddard ,Alexandra F Freeman ,Christa S Zerbe ,Douglas B Kuhns ,Yves A Lussier ,Kenneth N Olivier ,Richard C Boucher ,Heather D Hickman ,Jeffrey Frelinger ,Joshua Fierer ,Lisa F Shubitz ,Thomas L Leto ,George R Thompson 3rd ,John N Galgiani ,Michail S Lionakis ,Steven M Holland

Phase I Study of Zotiraciclib in Combination with Temozolomide for Patients with Recurrent High-grade Astrocytomas

佐替拉西尼联合替莫唑胺治疗复发性高级别星形细胞瘤患者的 I 期研究

Wu, Jing; Yuan, Ying; Long Priel, Debra A; Fink, Danielle; Peer, Cody J; Sissung, Tristan M; Su, Yu-Ting; Pang, Ying; Yu, Guangyang; Butler, Madison K; Mendoza, Tito R; Vera, Elizabeth; Ahmad, Salman; Bryla, Christine; Lindsley, Matthew; Grajkowska, Ewa; Mentges, Kelly; Boris, Lisa; Antony, Ramya; Garren, Nancy; Siegel, Christine; Lollo, Nicole; Cordova, Christine; Aboud, Orwa; Theeler, Brett J; Burton, Eric M; Penas-Prado, Marta; Leeper, Heather; Gonzales, Javier; Armstrong, Terri S; Calvo, Katherine R; Figg, William D; Kuhns, Douglas B; Gallin, John I; Gilbert, Mark R

Human PI3Kγ deficiency and its microbiota-dependent mouse model reveal immunodeficiency and tissue immunopathology

人类 PI3Kγ 缺乏症及其微生物依赖性小鼠模型揭示免疫缺陷和组织免疫病理学

Andrew J Takeda, Timothy J Maher, Yu Zhang, Stephen M Lanahan, Molly L Bucklin, Susan R Compton, Paul M Tyler, William A Comrie, Makoto Matsuda, Kenneth N Olivier, Stefania Pittaluga, Joshua J McElwee, Debra A Long Priel, Douglas B Kuhns, Roger L Williams, Peter J Mustillo, Matthias P Wymann, V Kone

Chromothriptic cure of WHIM syndrome

WHIM综合征的染色体碎裂剂治疗

McDermott, David H; Gao, Ji-Liang; Liu, Qian; Siwicki, Marie; Martens, Craig; Jacobs, Paejonette; Velez, Daniel; Yim, Erin; Bryke, Christine R; Hsu, Nancy; Dai, Zunyan; Marquesen, Martha M; Stregevsky, Elina; Kwatemaa, Nana; Theobald, Narda; Long Priel, Debra A; Pittaluga, Stefania; Raffeld, Mark A; Calvo, Katherine R; Maric, Irina; Desmond, Ronan; Holmes, Kevin L; Kuhns, Douglas B; Balabanian, Karl; Bachelerie, Françoise; Porcella, Stephen F; Malech, Harry L; Murphy, Philip M

An AAVS1-targeted minigene platform for correction of iPSCs from all five types of chronic granulomatous disease

针对 AAVS1 的微基因平台,用于矫正所有五种慢性肉芽肿性疾病的 iPSC

Randall K Merling, Colin L Sweeney, Jessica Chu, Aaron Bodansky, Uimook Choi, Debra Long Priel, Douglas B Kuhns, Hongmei Wang, Sam Vasilevsky, Suk See De Ravin, Thomas Winkler, Cynthia E Dunbar, Jizhong Zou, Kol A Zarember, John I Gallin, Steven M Holland, Harry L Malech

Assessment of atherosclerosis in chronic granulomatous disease

慢性肉芽肿病动脉粥样硬化的评估

Christopher T Sibley, Tyra Estwick, Anna Zavodni, Chiung-Yu Huang, Alan C Kwan, Benjamin P Soule, Debra A Long Priel, Alan T Remaley, Amanda K Rudman Spergel, Evrim B Turkbey, Douglas B Kuhns, Steven M Holland, Harry L Malech, Kol A Zarember, David A Bluemke, John I Gallin

Loss-of-function of the protein kinase C δ (PKCδ) causes a B-cell lymphoproliferative syndrome in humans

蛋白激酶 C δ (PKCδ) 功能丧失导致人类 B 细胞淋巴增生综合征

Hye Sun Kuehn, Julie E Niemela, Andreia Rangel-Santos, Mingchang Zhang, Stefania Pittaluga, Jennifer L Stoddard, Ashleigh A Hussey, Moses O Evbuomwan, Debra A Long Priel, Douglas B Kuhns, C Lucy Park, Thomas A Fleisher, Gulbu Uzel, João B Oliveira

Signal transducer and activator of transcription 1 (STAT1) gain-of-function mutations and disseminated coccidioidomycosis and histoplasmosis.

信号转导和转录激活因子 1 (STAT1) 功能获得性突变与播散性球孢子菌病和组织胞浆菌病

Sampaio Elizabeth P, Hsu Amy P, Pechacek Joseph, Bax Hannelore I, Dias Dalton L, Paulson Michelle L, Chandrasekaran Prabha, Rosen Lindsey B, Carvalho Daniel S, Ding Li, Vinh Donald C, Browne Sarah K, Datta Shrimati, Milner Joshua D, Kuhns Douglas B, Long Priel Debra A, Sadat Mohammed A, Shiloh Michael, De Marco Brendan, Alvares Michael, Gillman Jason W, Ramarathnam Vivek, de la Morena Maite, Bezrodnik Liliana, Moreira Ileana, Uzel Gulbu, Johnson Daniel, Spalding Christine, Zerbe Christa S, Wiley Henry, Greenberg David E, Hoover Susan E, Rosenzweig Sergio D, Galgiani John N, Holland Steven M