PMC Articles for MedGen (Select 220432) - PMC

Jiawan Wang, Ana Calizo, Lindy Zhang, James C. Pino, Yang Lyu, Kai Pollard, Xiaochun Zhang, Alex T. Larsson, Eric Conniff, Nicolas J. Llosa, David K. Wood, David A. Largaespada, Susan E. Moody, Sara J. Gosline, Angela C. Hirbe, Christine A. Pratilas

Sci Adv. 2023 Nov 24; 9(47): eadg8876. Published online 2023 Nov 24. doi: 10.1126/sciadv.adg8876

PMCID:: PMC10672174

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Select item 106381575.

Telomere maintenance mechanism subtype reveals different immune activity in vestibular schwannoma

Ji-Yong Sung, Jung Woo Lee

J Neurooncol. 2023; 165(1): 113–126. Published online 2023 Oct 21. doi: 10.1007/s11060-023-04458-5

PMCID:: PMC10638157

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Select item 106183196.

Adrenal and periadrenal schwannoma: histological, molecular and clinical characterization of an institutional case series

Adam Stenman, Henrik Falhammar, Jan Zedenius, C. Christofer Juhlin

Endocrine. 2023; 82(3): 631–637. Published online 2023 Aug 3. doi: 10.1007/s12020-023-03463-y

PMCID:: PMC10618319

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Select item 105852327.

Transcriptomic subtyping of malignant peripheral nerve sheath tumours highlights immune signatures, genomic profiles, patient survival and therapeutic targets

Maren Høland, Kaja C.G. Berg, Ina A. Eilertsen, Bodil Bjerkehagen, Matthias Kolberg, Kjetil Boye, Ole Christian Lingjærde, Tormod K. Guren, Nils Mandahl, Eva van den Berg, Emanuela Palmerini, Sigbjørn Smeland, Piero Picci, Fredrik Mertens, Anita Sveen, Ragnhild A. Lothe

eBioMedicine. 2023 Nov; 97: 104829. Published online 2023 Oct 12. doi: 10.1016/j.ebiom.2023.104829

PMCID:: PMC10585232

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Select item 105805928.

Perinatal folate levels do not influence tumor latency or multiplicity in a model of NF1 associated plexiform-like neurofibromas

Kyle B. Williams, Andrew R. Marley, Justin Tibbitts, Christopher L. Moertel, Kimberly J. Johnson, Michael A. Linden, David A. Largaespada, Erin L. Marcotte

BMC Res Notes. 2023; 16: 275. Published online 2023 Oct 17. doi: 10.1186/s13104-023-06515-8

PMCID:: PMC10580592

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Select item 105466969.

Jejunal gastrointestinal stromal tumor that developed in a patient with neurofibromatosis type 1: a case report

Hideki Nagano, Shigekazu Ohyama, Atsushi Sato, Jun Igarashi, Tomoko Yamamoto, Masumi Kadoya, Mikiko Kobayashi

Diagn Pathol. 2023; 18: 110. Published online 2023 Oct 3. doi: 10.1186/s13000-023-01398-6

PMCID:: PMC10546696

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Select item 1053746710.

Integration of single-nuclei RNA-sequencing, spatial transcriptomics and histochemistry defines the complex microenvironment of NF1-associated plexiform neurofibromas

Vladimir Amani, Kent A. Riemondy, Rui Fu, Andrea M. Griesinger, Enrique Grimaldo, Graziella Ribeiro De Sousa, Ahmed Gilani, Molly Hemenway, Nicholas K. Foreman, Andrew M. Donson, Nicholas Willard

Acta Neuropathol Commun. 2023; 11: 158. Published online 2023 Sep 28. doi: 10.1186/s40478-023-01639-1

PMCID:: PMC10537467

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Meningiomas in patients with neurofibromatosis type 2 predominantly comprise ‘immunogenic subtype’ tumours characterised by macrophage infiltration

Yu Teranishi, Satoru Miyawaki, Masahiro Nakatochi, Atsushi Okano, Kenta Ohara, Hiroki Hongo, Daiichiro Ishigami, Yu Sakai, Daisuke Shimada, Shunsaku Takayanagi, Masako Ikemura, Daisuke Komura, Hiroto Katoh, Jun Mitsui, Shinichi Morishita, Tetsuo Ushiku, Shumpei Ishikawa, Hirofumi Nakatomi, Nobuhito Saito

Acta Neuropathol Commun. 2023; 11: 156. Published online 2023 Sep 26. doi: 10.1186/s40478-023-01645-3

PMCID:: PMC10521403

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Select item 1048799412.

FOXM1, MEK, and CDK4/6: New Targets for Malignant Peripheral Nerve Sheath Tumor Therapy

Ellen Voigt, Dawn E. Quelle

Int J Mol Sci. 2023 Sep; 24(17): 13596. Published online 2023 Sep 2. doi: 10.3390/ijms241713596

PMCID:: PMC10487994

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Identification of an NF1 Microdeletion with Optical Genome Mapping

Gergely Büki, Anna Bekő, Csaba Bödör, Péter Urbán, Krisztina Németh, Kinga Hadzsiev, György Fekete, Hildegard Kehrer-Sawatzki, Judit Bene

Int J Mol Sci. 2023 Sep; 24(17): 13580. Published online 2023 Sep 1. doi: 10.3390/ijms241713580

PMCID:: PMC10487413

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Select item 1048051314.

Current progress in genomics and targeted therapies for neurofibromatosis type 2

Ryo Hiruta, Kiyoshi Saito, Mudathir Bakhit, Masazumi Fujii

Fukushima J Med Sci. 2023; 69(2): 95–103. Published online 2023 Jul 19. doi: 10.5387/fms.2023-05

PMCID:: PMC10480513

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Superimposed Mosaicism in the Form of Extremely Extended Segmental Plexiform Neurofibroma Caused by a Novel Pathogenic Variant in the NF1 Gene

Klára Veres, Judit Bene, Kinga Hadzsiev, Miklós Garami, Sára Pálla, Rudolf Happle, Márta Medvecz, Zsuzsanna Zsófia Szalai

Int J Mol Sci. 2023 Aug; 24(15): 12154. Published online 2023 Jul 29. doi: 10.3390/ijms241512154

PMCID:: PMC10418935

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前庭神经鞘瘤的药物治疗前景

平钟

Sichuan Da Xue Xue Bao Yi Xue Ban. 2022 Jul 20; 53(4): 549–553. Chinese. doi: 10.12182/20220760202

PMCID:: PMC10409460

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Select item 1040053717.

Preimplantation genetic testing for Neurofibromatosis type 1: more than 20 years of clinical experience

Vivian Vernimmen, Aimée D. C. Paulussen, Jos C. F. M. Dreesen, Ron J. van Golde, Masoud Zamani Esteki, Edith Coonen, Marianne L. van Buul-van Zwet, Irene Homminga, Alwin A. H. A. Derijck, Lloyd Brandts, Constance T. R. M. Stumpel, Christine E. M. de Die-Smulders

Eur J Hum Genet. 2023 Aug; 31(8): 918–924. Published online 2023 Jun 19. doi: 10.1038/s41431-023-01404-x

PMCID:: PMC10400537

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Icariin Promotes Osteogenic Differentiation in a Cell Model with NF1 Gene Knockout by Activating the cAMP/PKA/CREB Pathway

Meng Chen, Lianhua Lu, Dong Cheng, Jing Zhang, Xinyong Liu, Jianli Zhang, Tianliang Zhang

Molecules. 2023 Jul; 28(13): 5128. Published online 2023 Jun 30. doi: 10.3390/molecules28135128

PMCID:: PMC10343815

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Mutational Spectrum and Genotype-phenotype Correlations in Neurofibromatosis Type 1 Patients from North Macedonia: Identification of Ten Novel NF1 Pathogenic Variants

Marija Gjorgjievska, Gjorgji Bozhinovski, Elena Sukarova-Angelovska, Mirjana Kocova, Lejla Muaremoska Kanzoska, Dijana Plaseska-Karanfilska

Balkan Med J. 2023 Jul; 40(4): 252–261. Published online 2023 Jul 12. doi: 10.4274/balkanmedj.galenos.2023.2022-12-28

PMCID:: PMC10339848

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A Bilateral Vestibular Schwannoma is Not Always Related to Neurofibromatosis Type 2

Andi Abeshi, Gian Gaetano Ferri

J Int Adv Otol. 2023 May; 19(3): 263–265. Published online 2023 May 1. doi: 10.5152/iao.2023.22922

PMCID:: PMC10331633

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