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

A Grammastola spatulata mechanotoxin-4 (GsMTx4)-sensitive cation channel mediates increased cation permeability in human hereditary spherocytosis of multiple genetic etiologies

一种对 Grammastola spatulata 机械毒素-4 (GsMTx4) 敏感的阳离子通道介导了多种遗传病因引起的人类遗传性球形红细胞症中阳离子通透性的增加

Vandorpe, David H; Shmukler, Boris E; Ilboudo, Yann; Bhasin, Swati; Thomas, Beena; Rivera, Alicia; Wohlgemuth, Jay G; Dlott, Jeffrey S; Snyder, L Michael; Sieff, Colin; Bhasin, Manoj; Lettre, Guillaume; Brugnara, Carlo; Alper, Seth L

L-leucine improves anemia and growth in patients with transfusion-dependent Diamond-Blackfan anemia: Results from a multicenter pilot phase I/II study from the Diamond-Blackfan Anemia Registry

L-亮氨酸可改善输血依赖型Diamond-Blackfan贫血患者的贫血和生长发育:来自Diamond-Blackfan贫血登记处的一项多中心I/II期试点研究的结果

Vlachos, Adrianna; Atsidaftos, Evangelia; Lababidi, Mohammad Lutfi; Muir, Ellen; Rogers, Zora R; Alhushki, Waseem; Bernstein, Jonathan; Glader, Bertil; Gruner, Barbara; Hartung, Helge; Knoll, Christine; Loew, Thomas; Nalepa, Grzegorz; Narla, Anupama; Panigrahi, Arun R; Sieff, Colin A; Walkovich, Kelly; Farrar, Jason E; Lipton, Jeffrey M

Aberrant splicing contributes to severe α-spectrin-linked congenital hemolytic anemia.

异常剪接导致严重的α-血影蛋白相关先天性溶血性贫血

Gallagher Patrick G, Maksimova Yelena, Lezon-Geyda Kimberly, Newburger Peter E, Medeiros Desiree, Hanson Robin D, Rothman Jennifer, Israels Sara, Wall Donna A, Sidonio Robert F Jr, Sieff Colin, Gowans L Kate, Mittal Nupur, Rivera-Santiago Roland, Speicher David W, Baserga Susan J, Schulz Vincent P

TGFβ signaling underlies hematopoietic dysfunction and bone marrow failure in Shwachman-Diamond Syndrome

TGFβ 信号传导是 Shwachman-Diamond 综合征中造血功能障碍和骨髓衰竭的根本原因

Cailin E Joyce, Assieh Saadatpour, Melisa Ruiz-Gutierrez, Ozge Vargel Bolukbasi, Lan Jiang, Dolly D Thomas, Sarah Young, Inga Hofmann, Colin A Sieff, Kasiani C Myers, Jennifer Whangbo, Towia A Libermann, Chad Nusbaum, Guo-Cheng Yuan, Akiko Shimamura, Carl D Novina

The phenotypic spectrum of germline YARS2 variants: from isolated sideroblastic anemia to mitochondrial myopathy, lactic acidosis and sideroblastic anemia 2

生殖系YARS2变异的表型谱:从孤立性铁粒幼细胞性贫血到线粒体肌病、乳酸性酸中毒和铁粒幼细胞性贫血2

Riley, Lisa G; Heeney, Matthew M; Rudinger-Thirion, Joëlle; Frugier, Magali; Campagna, Dean R; Zhou, Ronghao; Hale, Gregory A; Hilliard, Lee M; Kaplan, Joel A; Kwiatkowski, Janet L; Sieff, Colin A; Steensma, David P; Rennings, Alexander J; Simons, Annet; Schaap, Nicolaas; Roodenburg, Richard J; Kleefstra, Tjitske; Arenillas, Leonor; Fita-Torró, Josep; Ahmed, Rasha; Abboud, Miguel; Bechara, Elie; Farah, Roula; Tamminga, Rienk Y J; Bottomley, Sylvia S; Sanchez, Mayka; Huls, Gerwin; Swinkels, Dorine W; Christodoulou, John; Fleming, Mark D

Critical Issues in Diamond-Blackfan Anemia and Prospects for Novel Treatment

Diamond-Blackfan贫血症的关键问题及新型治疗前景

Li, Hojun; Lodish, Harvey F; Sieff, Colin A

A missense mutation in TFRC, encoding transferrin receptor 1, causes combined immunodeficiency

TFRC基因(编码转铁蛋白受体1)的错义突变会导致联合免疫缺陷。

Jabara, Haifa H; Boyden, Steven E; Chou, Janet; Ramesh, Narayanaswamy; Massaad, Michel J; Benson, Halli; Bainter, Wayne; Fraulino, David; Rahimov, Fedik; Sieff, Colin; Liu, Zhi-Jian; Alshemmari, Salem H; Al-Ramadi, Basel K; Al-Dhekri, Hasan; Arnaout, Rand; Abu-Shukair, Mohammad; Vatsayan, Anant; Silver, Eli; Ahuja, Sanjay; Davies, E Graham; Sola-Visner, Martha; Ohsumi, Toshiro K; Andrews, Nancy C; Notarangelo, Luigi D; Fleming, Mark D; Al-Herz, Waleed; Kunkel, Louis M; Geha, Raif S

Altered translation of GATA1 in Diamond-Blackfan anemia

Diamond-Blackfan 贫血症中 GATA1 的翻译改变

Leif S Ludwig, Hanna T Gazda, Jennifer C Eng, Stephen W Eichhorn, Prathapan Thiru, Roxanne Ghazvinian, Tracy I George, Jason R Gotlib, Alan H Beggs, Colin A Sieff, Harvey F Lodish, Eric S Lander, Vijay G Sankaran

Diagnosis and treatment of pediatric acquired aplastic anemia (AAA): an initial survey of the North American Pediatric Aplastic Anemia Consortium (NAPAAC)

儿童获得性再生障碍性贫血(AAA)的诊断和治疗:北美儿童再生障碍性贫血联盟(NAPAAC)的初步调查

Williams, David A; Bennett, Carolyn; Bertuch, Alison; Bessler, Monica; Coates, Thomas; Corey, Seth; Dror, Yigal; Huang, James; Lipton, Jeffrey; Olson, Timothy S; Reiss, Ulrike M; Rogers, Zora R; Sieff, Colin; Vlachos, Adrianna; Walkovich, Kelly; Wang, Winfred; Shimamura, Akiko

Novel deletion of RPL15 identified by array-comparative genomic hybridization in Diamond-Blackfan anemia

通过阵列比较基因组杂交技术在Diamond-Blackfan贫血症中发现了一种新的RPL15基因缺失

Landowski, Michael; O'Donohue, Marie-Françoise; Buros, Christopher; Ghazvinian, Roxanne; Montel-Lehry, Nathalie; Vlachos, Adrianna; Sieff, Colin A; Newburger, Peter E; Niewiadomska, Edyta; Matysiak, Michal; Glader, Bertil; Atsidaftos, Eva; Lipton, Jeffrey M; Beggs, Alan H; Gleizes, Pierre-Emmanuel; Gazda, Hanna T