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Select item 106927631.

Whole genome sequence-based haplotypes reveal a single origin of the 1393 bp HBB deletion

Xunde Wang, Julia Z Xu, Anna Conrey, Laurel Mendelsohn, Daniel Shriner, Mehdi Pirooznia, Swee Lay Thein

J Med Genet. Author manuscript; available in PMC 2023 Dec 2.

Published in final edited form as: J Med Genet. 2020 Aug; 57(8): 567–570. Published online 2020 Jan 30. doi: 10.1136/jmedgenet-2019-106698

PMCID:: PMC10692763

Article PubReader PDF–404K Cite

Select item 106907412.

Correlation of t(14;18) translocation breakpoint site with clinical characteristics in follicular lymphoma

Matej Panjan, Lucka Boltezar, Srdjan Novakovic, Ira Kokovic, Barbara Jezersek Novakovic

Radiol Oncol. 2023 Dec; 57(4): 487–492. Published online 2023 Jul 13. doi: 10.2478/raon-2023-0030

PMCID:: PMC10690741

Article PubReader PDF–776K Cite

Select item 106900263.

Distinct neuroinflammatory signatures exist across genetic and sporadic amyotrophic lateral sclerosis cohorts

Olivia M Rifai, Judi O’Shaughnessy, Owen R Dando, Alison F Munro, Michael D E Sewell, Sharon Abrahams, Fergal M Waldron, Christopher R Sibley, Jenna M Gregory

Brain. 2023 Dec; 146(12): 5124–5138. Published online 2023 Jul 14. doi: 10.1093/brain/awad243

PMCID:: PMC10690026

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Select item 106872804.

Optimal combination of MYCN differential gene and cellular senescence gene predicts adverse outcomes in patients with neuroblastoma

Jiaxiong Tan, Chaoyu Wang, Yan Jin, Yuren Xia, Baocheng Gong, Qiang Zhao

Front Immunol. 2023; 14: 1309138. Published online 2023 Nov 16. doi: 10.3389/fimmu.2023.1309138

PMCID:: PMC10687280

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Select item 106831015.

Sarcomatoid mesothelioma diagnosed in a patient with mesothelioma in situ: a case report on morphologic differences after 9-month interval with details analysis of cytology in early-stage mesothelioma

Miho Yoshida, Naoe Jimbo, Ryuko Tsukamoto, Tomoo Itoh, Kunimitsu Kawahara, Suguru Mitsui, Yugo Tanaka, Yoshimasa Maniwa

Diagn Pathol. 2023; 18: 126. Published online 2023 Nov 28. doi: 10.1186/s13000-023-01416-7

PMCID:: PMC10683101

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Select item 106829336.

Proliferation-independent role of NF2 (merlin) in limiting biliary morphogenesis

Samira Benhamouche-Trouillet, Evan O'Loughlin, Ching-Hui Liu, William Polacheck, Julien Fitamant, Mary McKee, Nabeel El-Bardeesy, Christopher S. Chen, Andrea I. McClatchey

Development. 2018 May 1; 145(9): dev162123. Published online 2018 Apr 30. doi: 10.1242/dev.162123

PMCID:: PMC10682933

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Select item 106819057.

STING activation in TET2-mutated hematopoietic stem/progenitor cells contributes to the increased self-renewal and neoplastic transformation

Jiaying Xie, Mengyao Sheng, Shaoqin Rong, Dan Zhou, Chao Wang, Wanling Wu, Jingru Huang, Yue Sun, Yin Wang, Pingyue Chen, Yushuang Wu, Yuanxian Wang, Lan Wang, Bo O. Zhou, Xinxin Huang, Colum P. Walsh, Stefan K. Bohlander, Jian Huang, Xiaoqin Wang, Guo-Liang Xu, Hai Gao, Yuheng Shi

Leukemia. 2023; 37(12): 2457–2467. Published online 2023 Oct 10. doi: 10.1038/s41375-023-02055-z

PMCID:: PMC10681905

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Select item 106803618.

Genetic alterations that deregulate RB and PDGFRA signaling pathways drive tumor progression in IDH2-mutant astrocytoma

Kensuke Tateishi, Yohei Miyake, Taishi Nakamura, Hiromichi Iwashita, Takahiro Hayashi, Akito Oshima, Hirokuni Honma, Hiroaki Hayashi, Kyoka Sugino, Miyui Kato, Kaishi Satomi, Satoshi Fujii, Takashi Komori, Tetsuya Yamamoto, Daniel P. Cahill, Hiroaki Wakimoto

Acta Neuropathol Commun. 2023; 11: 186. Published online 2023 Nov 27. doi: 10.1186/s40478-023-01683-x

PMCID:: PMC10680361

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Select item 106716859.

Donor Cell Acute Myeloid Leukemia after Hematopoietic Stem Cell Transplantation for Chronic Granulomatous Disease: A Case Report and Literature Review

Giovanni Micheloni, Annalisa Frattini, Marta Donini, Stefano Dusi, Anna Leszl, Annamaria Di Meglio, Martina Pigazzi, Antonio Musio, Marco Zecca, Tommaso Mina, Marco Rabusin, Pamela Roccia, Paolo Bernasconi, Irene Dambruoso, Antonella Minelli, Giuseppe Montalbano, Francesco Acquati, Giovanni Porta, Roberto Valli, Francesco Pasquali

Genes (Basel) 2023 Nov; 14(11): 2085. Published online 2023 Nov 16. doi: 10.3390/genes14112085

PMCID:: PMC10671685

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Select item 1066857210.

Mutation spectrum analysis of DMD gene in Indonesian Duchenne and Becker muscular dystrophy patients

Ery Kus Dwianingsih, Kristy Iskandar, Sunartini Hapsara, Chun Ping Liu, Rusdy Ghazali Malueka, Gunadi, Masafumi Matsuo, Poh San Lai

Version 3. F1000Res. 2022; 11: 148. Published online 2023 Nov 17. doi: 10.12688/f1000research.73476.3

PMCID:: PMC10668572

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Select item 1066284511.

A novel PIBF1-RET gene fusion identified from a stage IA lung adenocarcinoma: A case report

Weidi Zhao, Jia’en Sun, Huangkai Zhu, Guofang Zhao

Medicine (Baltimore) 2023 Jul 21; 102(29): e34305. Published online 2023 Jul 21. doi: 10.1097/MD.0000000000034305

PMCID:: PMC10662845

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Select item 1065545012.

Head and neck INI1-deficient carcinoma without primary: a case report

Antoine Dubray-Vautrin, Wahib Ghanem, Laurence Bozec, Julie Gonin, Olivier Choussy

J Med Case Rep. 2023; 17: 479. Published online 2023 Nov 17. doi: 10.1186/s13256-023-04214-3

PMCID:: PMC10655450

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Select item 1065261513.

Invasive FoxM1 phosphorylated by PLK1 induces the polarization of tumor-associated macrophages to promote immune escape and metastasis, amplified by IFITM1

Rong Xu, Young-Joo Lee, Chang-Hyeon Kim, Ga-Hong Min, Yeo-Bin Kim, Jung-Won Park, Dae-Hoon Kim, Jung-Hyun Kim, Hyungshin Yim

J Exp Clin Cancer Res. 2023; 42: 302. Published online 2023 Nov 16. doi: 10.1186/s13046-023-02872-1

PMCID:: PMC10652615

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Select item 1065148114.

m¹A in CAG repeat RNA binds to TDP-43 and induces neurodegeneration

Yuxiang Sun, Hui Dai, Xiaoxia Dai, Jiekai Yin, Yuxiang Cui, Xiaochuan Liu, Gwendolyn Gonzalez, Jun Yuan, Feng Tang, Nan Wang, Alexandra E. Perlegos, Nancy M. Bonini, X. William Yang, Weifeng Gu, Yinsheng Wang

Nature. 2023; 623(7987): 580–587. Published online 2023 Nov 8. doi: 10.1038/s41586-023-06701-5

PMCID:: PMC10651481

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Select item 1064811215.

Validation of a Molecular Diagnostic Test for Circulating Tumor DNA by Next-Gen Sequencing

Sandra V. Fernandez, Yin Fei Tan, Shilpa Rao, Patricia Fittipaldi, Fathima Sheriff, Hossein Borghaei, Efrat Dotan, Jennifer S. Winn, Martin J. Edelman, Joseph Treat, Julia Judd, R. Katherine Alpaugh, Y. Lynn Wang, Jian Q. Yu, Mariusz Wasik, Don A. Baldwin

Int J Mol Sci. 2023 Nov; 24(21): 15779. Published online 2023 Oct 30. doi: 10.3390/ijms242115779

PMCID:: PMC10648112

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Select item 1063842516.

Novel RICTOR amplification harbouring entities: FISH validation of RICTOR amplification in tumour tissue after next-generation sequencing

Dániel Sztankovics, Ildikó Krencz, Dorottya Moldvai, Titanilla Dankó, Ákos Nagy, Noémi Nagy, Gábor Bedics, András Rókusz, Gergő Papp, Anna-Mária Tőkés, Judit Pápay, Zoltán Sápi, Katalin Dezső, Csaba Bödör, Anna Sebestyén

Sci Rep. 2023; 13: 19610. Published online 2023 Nov 10. doi: 10.1038/s41598-023-46927-x

PMCID:: PMC10638425

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Select item 1063775117.

CLIP-Seq analysis enables the design of protective ribosomal RNA bait oligonucleotides against C9ORF72 ALS/FTD poly-GR pathophysiology

Juan A. Ortega, Ivan R. Sasselli, Marco Boccitto, Andrew C. Fleming, Tyler R. Fortuna, Yichen Li, Kohei Sato, Tristan D. Clemons, Elizabeth D. Mckenna, Thao P. Nguyen, Eric N. Anderson, Jesus Asin, Justin K. Ichida, Udai B. Pandey, Sandra L. Wolin, Samuel I. Stupp, Evangelos Kiskinis

Sci Adv. 2023 Nov 10; 9(45): eadf7997. Published online 2023 Nov 10. doi: 10.1126/sciadv.adf7997

PMCID:: PMC10637751

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Select item 1063259818.

Advances in treatment of alveolar soft part sarcoma: an updated review

Tomohiro Fujiwara, Toshiyuki Kunisada, Eiji Nakata, Kenji Nishida, Hiroyuki Yanai, Tomoki Nakamura, Kazuhiro Tanaka, Toshifumi Ozaki

Jpn J Clin Oncol. 2023 Nov; 53(11): 1009–1018. Published online 2023 Aug 25. doi: 10.1093/jjco/hyad102

PMCID:: PMC10632598

Article PubReader PDF–967K Cite

Select item 1062883219.

The pathobiology of follicular lymphoma

Joaquim Carreras

J Clin Exp Hematop. 2023 Sep; 63(3): 152–163. Published online 2023 Jul 28. doi: 10.3960/jslrt.23014

PMCID:: PMC10628832

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Select item 1062856220.

Racial Disparities in MiT Family Translocation Renal Cell Carcinoma

Xiaofan Lu, Nassim Tawanaie Pour Sedehi, Xiaoping Su, Fangrong Yan, Omar Alhalabi, Nizar M Tannir, Gabriel G Malouf

Oncologist. 2023 Nov; 28(11): 1009–1013. Published online 2023 Jun 14. doi: 10.1093/oncolo/oyad173

PMCID:: PMC10628562

Article PubReader PDF–7.5M Cite

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