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Select item 112179641.

Orientation diagnostic devant une neutropénie héréditaire de l’enfant : Revue narrative de la littérature

Zakaria Kasmi, Jalila El Bakkouri, Fatima Ailal, Bouchra Oukkache, Jean Donadieu, Ahmed Aziz Bousfiha

Tunis Med. 2023 Jul; 101(7): 591–596. French. Publication en ligne 2023 juil. 5.

PMCID:: PMC11217964

Abstract Article PDF–421K

Select item 111597982.

Impaired removal of DNA interstrand cross‐link in Nijmegen breakage syndrome and Fanconi anemia, but not in BRCA‐defective group

Ken Tsuchida, Kenshi Komatsu

Cancer Sci. 2008 Nov; 99(11): 2238–2243. Published online 2008 Sep 1. doi: 10.1111/j.1349-7006.2008.00915.x

PMCID:: PMC11159798

Abstract Article PDF–192K

Select item 111505973.

Clinical relevance of SCN and CyN induced by ELANE mutations: a systematic review

Yufan Xiao, Nandi Wang, Xinghao Jin, Anna Liu, Zhiyong Zhang

Front Immunol. 2024; 15: 1349919. Published online 2024 May 22. doi: 10.3389/fimmu.2024.1349919

PMCID:: PMC11150597

Abstract Article PDF–2.7M

Select item 111114994.

The effect of bone marrow mesenchymal stromal cell exosomes on acute myeloid leukemia’s biological functions: a focus on the potential role of LncRNAs

Sahar Jalilivand, Mehrdad Izadirad, Nader Vazifeh Shiran, Ahmad Gharehbaghian, Sina Naserian

Clin Exp Med. 2024; 24(1): 108. Published online 2024 May 22. doi: 10.1007/s10238-024-01364-6

PMCID:: PMC11111499

Abstract Article PDF–1.9M

Select item 111056225.

Regulation of myelopoiesis by proinflammatory cytokines in infectious diseases

Yukino Chiba, Izuru Mizoguchi, Hideaki Hasegawa, Mio Ohashi, Naoko Orii, Taro Nagai, Miyaka Sugahara, Yasunori Miyamoto, Mingli Xu, Toshiyuki Owaki, Takayuki Yoshimoto

Cell Mol Life Sci. 2018 Apr; 75(8): 1363–1376. Published online 2017 Dec 7. doi: 10.1007/s00018-017-2724-5

PMCID:: PMC11105622

Abstract Article PDF–3.1M

Select item 110611096.

A minimal Fanconi Anemia complex in early diverging fungi

Drishtee Barua, Magdalena Płecha, Anna Muszewska

Sci Rep. 2024; 14: 9922. Published online 2024 Apr 30. doi: 10.1038/s41598-024-60318-w

PMCID:: PMC11061109

Abstract Article PDF–4.3M

Select item 110571057.

Germline biallelic BRCA2 pathogenic variants and medulloblastoma: an international cohort study

Svenja Kastellan, Reinhard Kalb, Bia Sajjad, Lisa J. McReynolds, Neelam Giri, David Samuel, Till Milde, Miriam Elbracht, Susanne Holzhauer, Marena R. Niewisch, Christian P. Kratz

J Hematol Oncol. 2024; 17: 26. Published online 2024 Apr 29. doi: 10.1186/s13045-024-01547-4

PMCID:: PMC11057105

Abstract Article PDF–880K

Select item 110334038.

Clinical and genetic characteristics of Chinese patients with Shwachman Diamond syndrome: a literature review of Chinese publication

Lijun Wang, Youpeng Jin, Yuan Chen, Ping Zhao, Xiaohong Shang, Haiyan Liu, Lifeng Sun

Exp Biol Med (Maywood) 2024; 249: 10035. Published online 2024 Apr 8. doi: 10.3389/ebm.2024.10035

PMCID:: PMC11033403

Abstract Article PDF–666K

Select item 110265259.

Caspase 8 deletion causes infection/inflammation-induced bone marrow failure and MDS-like disease in mice

Shanhui Liu, Kanak Joshi, Lei Zhang, Wenyan Li, Ryan Mack, Austin Runde, Patrick A. Hagen, Kevin Barton, Peter Breslin, Hong-Long Ji, Ameet R. Kini, Zhiping Wang, Jiwang Zhang

Cell Death Dis. 2024 Apr; 15(4): 278. Published online 2024 Apr 18. doi: 10.1038/s41419-024-06660-3

PMCID:: PMC11026525

Abstract Article PDF–3.0M

Select item 1102285510.

Inherited human Apollo deficiency causes severe bone marrow failure and developmental defects

Laëtitia Kermasson, Dmitri Churikov, Aya Awad, Riham Smoom, Elodie Lainey, Fabien Touzot, Séverine Audebert-Bellanger, Sophie Haro, Lauréline Roger, Emilia Costa, Maload Mouf, Adriana Bottero, Matias Oleastro, Chrystelle Abdo, Jean-Pierre de Villartay, Vincent Géli, Yehuda Tzfati, Isabelle Callebaut, Silvia Danielian, Gabriela Soares, Caroline Kannengiesser, Patrick Revy

Blood. 2022 Apr 21; 139(16): 2427–2440. Published online 2022 Jan 12. doi: 10.1182/blood.2021010791

PMCID:: PMC11022855

Abstract Article

Select item 1100986811.

RUNX1 mutations mitigate quiescence to promote transformation of hematopoietic progenitors in Fanconi anemia

William Marion, Tiago Koppe, Chun-Chin Chen, Dahai Wang, Katie Frenis, Sara Fierstein, Prerana Sensharma, Olivia Aumais, Michael Peters, Sonya Ruiz-Torres, Tafadzwa Chihanga, Steffen Boettcher, Akiko Shimamura, Daniel E. Bauer, Thorsten Schlaeger, Susanne I. Wells, Benjamin L. Ebert, Daniel Starczynowski, Edroaldo Lummertz da Rocha, R. Grant Rowe

Leukemia. Author manuscript; available in PMC 2024 Jun 1.

Published in final edited form as: Leukemia. 2023 Aug; 37(8): 1698–1708. Published online 2023 Jun 30. doi: 10.1038/s41375-023-01945-6

PMCID:: PMC11009868

Abstract Article PDF–1.0M

Select item 1098542312.

Dabrafenib and trametinib in Langerhans cell histiocytosis and other histiocytic disorders

Eily Cournoyer, Justin Ferrell, Susan Sharp, Anish Ray, Michael Jordan, Christopher Dandoy, Michael Grimley, Somak Roy, Robert Lorsbach, Arnold C. Merrow, Adam Nelson, Allison Bartlett, Jennifer Picarsic, Ashish Kumar

Haematologica. 2024 Apr 1; 109(4): 1137–1148. Published online 2023 Sep 21. doi: 10.3324/haematol.2023.283295

PMCID:: PMC10985423

Abstract Article PDF–2.7M

Select item 1093377313.

Phosphorylation by ATR triggers FANCD2 chromatin loading and activates the Fanconi anemia pathway

Marian Kupculak, Fengxiang Bai, Qiang Luo, Yasunaga Yoshikawa, David Lopez-Martinez, Hannan Xu, Stephan Uphoff, Martin A. Cohn

Cell Rep. 2023 Jul 25; 42(7): 112721. Published online 2023 Jun 30. doi: 10.1016/j.celrep.2023.112721

PMCID:: PMC10933773

Abstract Article PDF–6.0M

Select item 1091623914.

Pancancer analysis of the prognostic and immunological role of FANCD2: a potential target for carcinogenesis and survival

Zedan Zhao, Ruyu Wang, Ruixue Wang, Jialing Song, Fengjun Ma, Huafeng Pan, Cuiyun Gao, Deqiang Wang, Xuemei Chen, Xiangzhen Fan

BMC Med Genomics. 2024; 17: 69. Published online 2024 Mar 5. doi: 10.1186/s12920-024-01836-4

Correction in:: BMC Med Genomics. 2024; 17: 129.

PMCID:: PMC10916239

Abstract Article PDF–12M

Select item 1090479915.

Deregulated protein homeostasis constrains fetal hematopoietic stem cell pool expansion in Fanconi anemia

Narasaiah Kovuru, Makiko Mochizuki-Kashio, Theresa Menna, Greer Jeffrey, Yuning Hong, Young me Yoon, Zhe Zhang, Peter Kurre

Nat Commun. 2024; 15: 1852. Published online 2024 Feb 29. doi: 10.1038/s41467-024-46159-1

PMCID:: PMC10904799

Abstract Article PDF–2.5M

Select item 1087526916.

FANCA c.3624C>T (p.Ser1208=) is a hypomorphic splice variant associated with delayed onset of Fanconi anemia

Ramanagouda Ramanagoudr-Bhojappa, Rebecca Tryon, Francis P. Lach, Frank X. Donovan, Rochelle Maxwell, Allana Rosenberg, Margaret L. MacMillan, John E. Wagner, Arleen D. Auerbach, Agata Smogorzewska, Settara C. Chandrasekharappa

Blood Adv. 2024 Feb 27; 8(4): 899–908. Published online 2024 Jan 10. doi: 10.1182/bloodadvances.2023011888

PMCID:: PMC10875269

Abstract Article PDF–1.2M

Select item 1086599517.

The FANCI/FANCD2 complex links DNA damage response to R-loop regulation through SRSF1-mediated mRNA export

Anne Olazabal-Herrero, Boxue He, Youngho Kwon, Abhishek K. Gupta, Arijit Dutta, Yuxin Huang, Prajwal Boddu, Zhuobin Liang, Fengshan Liang, Yaqun Teng, Li Lan, Xiaoyong Chen, Huadong Pei, Manoj M. Pillai, Patrick Sung, Gary M. Kupfer

Cell Rep. Author manuscript; available in PMC 2024 Feb 14.

Published in final edited form as: Cell Rep. 2024 Jan 23; 43(1): 113610. Published online 2024 Jan 1. doi: 10.1016/j.celrep.2023.113610

PMCID:: PMC10865995

Abstract Article PDF–2.2M

Select item 1082693618.

A murine model to evaluate immunotherapy effectiveness for human Fanconi anemia-mutated acute myeloid leukemia

Tingting Huang, Bernice Leung, Yuyang Huang, Laura Price, Jiang Gui, Bonnie W. Lau

PLoS One. 2024; 19(1): e0292375. Published online 2024 Jan 30. doi: 10.1371/journal.pone.0292375

PMCID:: PMC10826936

Abstract Article PDF–1.0M

Select item 1082691419.

Increased Expression of NOTCH-1 and T Helper Cell Transcription Factors in Patients with Acquired Aplastic Anemia

Vandana Sharma, Manju Namdeo, Prabin Kumar, Dipendra Kumar Mitra, Parthaprasad Chattopadhyay, Sudha Sazawal, Rekha Chaubey, Renu Saxena, Uma Kanga, Tulika Seth

Iran Biomed J. 2023 Nov; 27(6): 357–365. Published online 2022 Jul 31. doi: 10.61186/ibj.3754

PMCID:: PMC10826914

Abstract Article PDF–1.7M

Select item 1082576420.

The Use of Social Media to Express and Manage Medical Uncertainty in Dyskeratosis Congenita: Content Analysis

Emily Pearce, Hannah Raj, Ngozika Emezienna, Melissa B Gilkey, Allison J Lazard, Kurt M Ribisl, Sharon A Savage, Paul KJ Han

JMIR Infodemiology. 2024; 4: e46693. Published online 2024 Jan 15. doi: 10.2196/46693

PMCID:: PMC10825764

Abstract Article PDF–337K

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