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

Mutations in VPS18 lead to a neutrophil maturation defect associated with disturbed vesicle homeostasis.

VPS18 基因突变会导致中性粒细胞成熟缺陷,并伴有囊泡稳态紊乱。

Gao Jincheng, Bader Almke, Linder Monika I, Cheng Jingyuan, Richter Mathis, da Costa Raul, Zehrer Annette, Mitt Karl, Popper Bastian, Meissner Felix, Wei Xiang, de Vega Gómez Enrique, Tatematsu Megumi, Rohlfs Meino, Frenz-Wiessner Stephanie, Kiziltug Mehmet, Somekh Ido, Yacobovich Joanne, Steinberg-Shemer Orna, Somech Raz, Soehnlein Oliver, Schmid Bettina, Klein Christoph, Walzog Barbara, Maier-Begandt Daniela

Investigating concomitant RAG-2 and LRBA mutations in SCID and autoimmunity

研究重症联合免疫缺陷病和自身免疫性疾病中 RAG-2 和 LRBA 基因的伴随突变

Spivak, Ilia; Frizinsky, Shirly; Mandola, Amarilla; Lev, Atar; Simon, Amos J; Barel, Ortal; Vishnevskia-Dai, Vicktoria; Somech, Raz; Somekh, Ido

Multiomics dissection of human RAG deficiency reveals distinctive patterns of immune dysregulation but a common inflammatory signature.

对人类 RAG 缺陷的多组学分析揭示了独特的免疫失调模式,但具有共同的炎症特征。

Bosticardo Marita, Dobbs Kerry, Delmonte Ottavia M, Martins Andrew J, Pala Francesca, Kawai Tomoki, Kenney Heather, Magro Gloria, Rosen Lindsey B, Yamazaki Yasuhiro, Yu Hsin-Hui, Calzoni Enrica, Lee Yu Nee, Liu Can, Stoddard Jennifer, Niemela Julie, Fink Danielle, Castagnoli Riccardo, Ramba Meredith, Cheng Aristine, Riley Deanna, Oikonomou Vasileios, Shaw Elana, Belaid Brahim, Keles Sevgi, Al-Herz Waleed, Cancrini Caterina, Cifaldi Cristina, Baris Safa, Sharapova Svetlana, Schuetz Catharina, Gennery Andrew R, Freeman Alexandra F, Somech Raz, Choo Sharon, Giliani Silvia C, Güngör Tayfun, Drozdov Daniel, Meyts Isabelle, Moshous Despina, Neven Benedicte, Abraham Roshini S, El-Marsafy Aisha, Kanariou Maria, King Alejandra, Licciardi Francesco, Cruz-Muñoz Mario E, Palma Paolo, Poli Cecilia, Adeli Mehdi, Algeri Mattia, Alroqi Fayhan J, Bastard Paul, Bergerson Jenna R E, Booth Claire, Brett Ana, Burns Siobhan O, Butte Manish J, Padem Nurcicek, de la Morena M, Dbaibo Ghassan, de Ravin Suk See, Dimitrova Dimana, Djidjik Reda, Dorna Mayra B, Dutmer Cullen M, Elfeky Reem, Facchetti Fabio, Fuleihan Ramsay L, Geha Raif S, Gonzalez-Granado Luis I, Haljasmägi Liis, Ale Hanadys, Hayward Anthony, Hifanova Anna M, Ip Winnie, Kaplan Blanka, Kapoor Neena, Karakoc-Aydiner Elif, Kärner Jaanika, Keller Michael D, Dávila Saldaña Blachy J, Kiykim Ayça, Kuijpers Taco W, Kuznetsova Elena E, Latysheva Elena A, Leiding Jennifer W, Locatelli Franco, Alva-Lozada Guisela, McCusker Christine, Celmeli Fatih, Morsheimer Megan, Ozen Ahmet, Parvaneh Nima, Pasic Srdjan, Plebani Alessandro, Preece Kahn, Prockop Susan, Sakovich Inga S, Starkova Elena E, Torgerson Troy, Verbsky James, Walter Jolan E, Ward Brant, Wisner Elizabeth L, Draper Deborah, Myint-Hpu Katherine, Truong Pooi M, Lionakis Michail S, Similuk Morgan B, Walkiewicz Magdalena A, Klion Amy, Holland Steven M, Oguz Cihan, Bogunovic Dusan, Kisand Kai, Su Helen C, Tsang John S, Kuhns Douglas, Villa Anna, Rosenzweig Sergio D, Pittaluga Stefania, Notarangelo Luigi D

An In vitro Caco2-Based Model for Measuring Intestinal Bioadhesion Comparable to Ex vivo Models

一种基于Caco2的体外肠道生物粘附测量模型,与离体模型相当

Drori, Eliyahu; Rahamim, Valeria; Patel, Dhaval; Anker, Yamm; Meir, Sivan; Uzan, Gal; Somech, Shira; Drori, Chen; Tzadok, Tal; Azagury, Aharon

β-Actin Deficiency in Baraitser-Winter Syndrome Type 1 Disrupts T-Cell Function and Immune Regulation: Implications for Targeted Therapy in Actinopathies

型巴雷特瑟-温特综合征中的 β-肌动蛋白缺乏会破坏 T 细胞功能和免疫调节:对肌动蛋白病靶向治疗的启示

Zahala Bar-On ,Or Reuven ,Atar Lev ,Amos J Simon ,Wajeeh Salaymeh ,Alit Shalom ,Raz Somech ,Ortal Barel ,Sigal Porges ,Elisheva Javasky ,Vered Molho-Pessach ,Zvi Granot ,Dan Bijaoui ,Tzahi Neuman ,Yuval Tal ,Michal Baniyash ,Michael Berger # ,Oded Shamriz #

Subtypes and proliferation patterns of small intestine neuroendocrine tumors revealed by single-cell RNA sequencing

单细胞RNA测序揭示小肠神经内分泌肿瘤的亚型和增殖模式

Somech, Einav; Halder, Debdatta; Spitzer, Avishay; Barbolin, Chaya; Tyler, Michael; Halperin, Reut; Biton, Moshe; Tirosh, Amit; Tirosh, Itay

NDUFS4, a mitochondrial complex I subunit, is essential for T-cell metabolic fitness and immune function.

NDUFS4 是线粒体复合物 I 的一个亚基,对 T 细胞的代谢适应性和免疫功能至关重要。

Shamriz Oded, Bar-On Zahala, Yosef Omri, Cohen-Daniel Leonor, Sheer Ayelet, Reuven Or, Salaymeh Wajeeh, Saragovi Amijai, Somech Raz, Lev Atar, Mor-Shaked Hagar, Tal Yuval, Fattal-Valevski Aviva, Edvardson Simon, Berger Michael

RELA Haploinsufficiency Manifesting as an Atypical Phenotype of Crohn's Disease

RELA单倍体功能不全表现为克罗恩病的非典型表型

Tal, Noa; Baram, Liran; Gehlhaar, Arne; Gu, Weihong; Guo, Siqi; Santiago, Eduardo Gonzalez; Lev, Atar; Barel, Ortal; Shamir, Raanan; Somech, Raz; Konnikova, Liza; Shouval, Dror S

Case Report: Clinical manifestations of uncommon monogenic disorders: revisiting activated phosphoinositide 3-kinase delta syndrome 2

病例报告:罕见单基因疾病的临床表现:重新审视活化磷脂酰肌醇3-激酶δ综合征2

Shamriz, Oded; Mandola, Amarilla; Simon, Amos J; Lev, Atar; Attal, Pierre; Nadler, Chen; Barel, Ortal; Khavkin, Yulia; Eisenberg, Rachel; Somech, Raz; Toker, Ori

The 2024 update of IUIS phenotypic classification of human inborn errors of immunity

2024年国际免疫学会(IUIS)人类先天性免疫缺陷表型分类更新

Bousfiha, Ahmed Aziz; Jeddane, Leïla; Moundir, Abderrahmane; Poli, M Cecilia; Aksentijevich, Ivona; Cunningham-Rundles, Charlotte; Hambleton, Sophie; Klein, Christoph; Morio, Tomohiro; Picard, Capucine; Puel, Anne; Rezaei, Nima; Seppänen, Mikko R J; Somech, Raz; Su, Helen C; Sullivan, Kathleen E; Torgerson, Troy R; Tangye, Stuart G; Meyts, Isabelle