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Select item 111868801.

Genetic/epigenetic effects in NF1 microdeletion syndrome: beyond the haploinsufficiency, looking at the contribution of not deleted genes

Viviana Tritto, Paola Bettinaglio, Eleonora Mangano, Claudia Cesaretti, Federica Marasca, Chiara Castronovo, Roberta Bordoni, Cristina Battaglia, Veronica Saletti, Valeria Ranzani, Beatrice Bodega, Marica Eoli, Federica Natacci, Paola Riva

Hum Genet. 2024; 143(6): 775–795. Published online 2024 Jun 14. doi: 10.1007/s00439-024-02683-0

PMCID:: PMC11186880

Abstract Article PDF–2.0M

Select item 111612582.

NF1-Driven Rhabdomyosarcoma Phenotypes: A Comparative Clinical and Molecular Study of NF1-Mutant Rhabdomyosarcoma and NF1-Associated Malignant Triton Tumor

Henry de Traux de Wardin, Josephine K. Dermawan, Fabio Vanoli, Samuel C. Jiang, Samuel Singer, Ping Chi, William Tap, Leonard H. Wexler, Cristina R. Antonescu

JCO Precis Oncol. 2024; 8: e2300597. Published online 2024 Apr 11. doi: 10.1200/PO.23.00597

PMCID:: PMC11161258

Abstract Article PDF–1.5M

Select item 109457073.

Comparative interactome analysis of α-arrestin families in human and Drosophila

Kyung-Tae Lee, Inez KA Pranoto, Soon-Young Kim, Hee-Joo Choi, Ngoc Bao To, Hansong Chae, Jeong-Yeon Lee, Jung-Eun Kim, Young V Kwon, Jin-Wu Nam

eLife. 2024; 12: RP88328. Published online 2024 Jan 25. doi: 10.7554/eLife.88328

PMCID:: PMC10945707

Abstract Article PDF–2.8M

Select item 109168664.

Cooperative polarization of MCAM/CD146 and ERM family proteins in melanoma

Suzannah G. Miller, Maria Hoh, Christopher C. Ebmeier, Jian Wei Tay, Natalie G. Ahn

Mol Biol Cell. 2024 Mar 1; 35(3): ar31. Published online 2024 Jan 29. doi: 10.1091/mbc.E23-06-0255

PMCID:: PMC10916866

Abstract Article PDF–4.7M

Select item 108449735.

NF1 deficiency drives metabolic reprogramming in ER+ breast cancer

Rachel (Rae) J. House, Elizabeth A. Tovar, Luke N. Redlon, Curt J. Essenburg, Patrick S. Dischinger, Abigail E. Ellis, Ian Beddows, Ryan D. Sheldon, Evan C. Lien, Carrie R. Graveel, Matthew R. Steensma

Mol Metab. 2024 Feb; 80: 101876. Published online 2024 Jan 10. doi: 10.1016/j.molmet.2024.101876

PMCID:: PMC10844973

Abstract Article PDF–3.5M

Select item 107401726.

Neurofibromin 1 mutations impair the function of human induced pluripotent stem cell-derived microglia

Leonard D. Kuhrt, Edyta Motta, Nirmeen Elmadany, Hannah Weidling, Raphaela Fritsche-Guenther, Ibrahim E. Efe, Olivia Cobb, Jit Chatterjee, Lucy G. Boggs, Marina Schnauß, Sebastian Diecke, Marcus Semtner, Corina Anastasaki, David H. Gutmann, Helmut Kettenmann

Dis Model Mech. 2023 Dec 1; 16(12): dmm049861. Published online 2023 Dec 11. doi: 10.1242/dmm.049861

PMCID:: PMC10740172

Abstract Article

Select item 106810697.

A genotype–phenotype correlation for quantitative autistic trait burden in neurofibromatosis 1

Stephanie M. Morris, David H. Gutmann

Neurology. 2018 Feb 20; 90(8): 377–379. doi: 10.1212/WNL.0000000000005000

PMCID:: PMC10681069

Article PDF–154K

Select item 106663838.

Impact of neurofibromatosis type 1 with plexiform neurofibromas on the health-related quality of life and work productivity of adult patients and caregivers in the UK: a cross-sectional survey

Hyun Kyoo Yoo, Alex Porteous, Alvin Ng, Keval Haria, Annabel Griffiths, Andrew Lloyd, Xiaoqin Yang, Gbenga Kazeem, Volkan Barut

BMC Neurol. 2023; 23: 419. Published online 2023 Nov 23. doi: 10.1186/s12883-023-03429-7

PMCID:: PMC10666383

Abstract Article PDF–885K

Select item 106144359.

Childhood-Onset Refractory Hypertension Results from Neurofibromatosis Type 1 Caused by a Splicing NF1 Mutation

Yi-Ting Lu, Buweimairemu Rejiepu, Di Zhang, Dong-Cheng Cai, Kun-Qi Yang, Tao Tian, Xian-Liang Zhou, Peng Fan

Kidney Blood Press Res. 2023 Jan-Dec; 48(1): 568–577. Published online 2023 Aug 10. doi: 10.1159/000533144

PMCID:: PMC10614435

Abstract Article

Select item 1051849510.

IGF2BP3 mediates the mRNA degradation of NF1 to promote triple‐negative breast cancer progression via an m6A‐dependent manner

Xu Zhang, Liang Shi, Han‐Dong Sun, Zi‐Wen Wang, Feng Xu, Ji‐Fu Wei, Qiang Ding

Clin Transl Med. 2023 Sep; 13(9): e1427. Published online 2023 Sep 24. doi: 10.1002/ctm2.1427

PMCID:: PMC10518495

Abstract Article PDF–3.9M

Select item 1046341611.

Aberrant oscillatory activity in neurofibromatosis type 1: an EEG study of resting state and working memory

Samantha J. Booth, Shruti Garg, Laura J. E. Brown, Jonathan Green, Gorana Pobric, Jason R. Taylor

J Neurodev Disord. 2023; 15: 27. Published online 2023 Aug 22. doi: 10.1186/s11689-023-09492-y

PMCID:: PMC10463416

Abstract Article PDF–1.8M

Select item 1032957612.

Analysis of 200 unrelated individuals with a constitutional NF1 deep intronic pathogenic variant reveals that variants flanking the alternatively spliced NF1 exon 31 [23a] cause a classical neurofibromatosis type 1 phenotype while altering predominantly NF1 isoform type II

Magdalena Koczkowska, Yunjia Chen, Jing Xie, Tom Callens, Alicia Gomes, Katharina Wimmer, Ludwine M. Messiaen

Hum Genet. 2023; 142(7): 849–861. Published online 2023 Apr 25. doi: 10.1007/s00439-023-02555-z

PMCID:: PMC10329576

Abstract Article PDF–633K

Select item 1017534413.

Ganglioglioma with adverse clinical outcome and atypical histopathological features were defined by alterations in PTPN11/KRAS/NF1 and other RAS-/MAP-Kinase pathway genes

Lucas Hoffmann, Roland Coras, Katja Kobow, Javier A. López-Rivera, Dennis Lal, Costin Leu, Imad Najm, Peter Nürnberg, Jochen Herms, Patrick N. Harter, Christian G. Bien, Thilo Kalbhenn, Markus Müller, Tom Pieper, Till Hartlieb, Manfred Kudernatsch, Hajo Hamer, Sebastian Brandner, Karl Rössler, Ingmar Blümcke, Samir Jabari

Acta Neuropathol. 2023; 145(6): 815–827. Published online 2023 Mar 27. doi: 10.1007/s00401-023-02561-5

Correction in:: Acta Neuropathol. 2023; 145(6): 851–855.

PMCID:: PMC10175344

Abstract Article PDF–3.7M

Select item 1016369314.

The oncogenic role of NF1 in gallbladder cancer through regulation of YAP1 stability by direct interaction with YAP1

Lingxiao Zhang, Lin Jiang, Ling Zeng, Zhaohui Jin, Xuanjia Dong, Yuhan Zhang, Litian Chen, Yijun Shu, Yingbin Liu, Ying Huang

J Transl Med. 2023; 21: 306. Published online 2023 May 5. doi: 10.1186/s12967-023-04157-9

PMCID:: PMC10163693

Abstract Article PDF–2.8M

Select item 1015161515.

Cross-linking mass spectrometry discovers, evaluates, and corroborates structures and protein–protein interactions in the human cell

Tara K. Bartolec, Xabier Vázquez-Campos, Alexander Norman, Clement Luong, Marcus Johnson, Richard J. Payne, Marc R. Wilkins, Joel P. Mackay, Jason K. K. Low

Proc Natl Acad Sci U S A. 2023 Apr 25; 120(17): e2219418120. Published online 2023 Apr 18. doi: 10.1073/pnas.2219418120

PMCID:: PMC10151615

Abstract Article PDF–2.9M

Select item 1014060516.

Exploiting metabolic vulnerabilities in breast cancers with NF1 loss

Yoon-Sim Yap, Jiancheng Hu

Cell Rep Med. 2023 Apr 18; 4(4): 101010. Published online 2023 Apr 18. doi: 10.1016/j.xcrm.2023.101010

PMCID:: PMC10140605

Abstract Article PDF–1.9M

Select item 1011930817.

The therapeutic potential of neurofibromin signaling pathways and binding partners

Juan Báez-Flores, Mario Rodríguez-Martín, Jesus Lacal

Commun Biol. 2023; 6: 436. Published online 2023 Apr 20. doi: 10.1038/s42003-023-04815-0

PMCID:: PMC10119308

Abstract Article PDF–2.2M

Select item 1007290618.

Multiplexed kinase interactome profiling quantifies cellular network activity and plasticity

Martin Golkowski, Andrea Lius, Tanmay Sapre, Ho-Tak Lau, Taylor Moreno, Dustin J. Maly, Shao-En Ong

Mol Cell. Author manuscript; available in PMC 2023 Apr 4.

Published in final edited form as: Mol Cell. 2023 Mar 2; 83(5): 803–818.e8. Published online 2023 Feb 2. doi: 10.1016/j.molcel.2023.01.015

PMCID:: PMC10072906

Abstract Article PDF–4.2M

Select item 999643919.

Splicing annotation of endometrial cancer GWAS risk loci reveals potentially causal variants and supports a role for NF1 and SKAP1 as susceptibility genes

Daffodil M. Canson, Tracy A. O’Mara, Amanda B. Spurdle, Dylan M. Glubb

HGG Adv. 2023 Apr 13; 4(2): 100185. Published online 2023 Feb 15. doi: 10.1016/j.xhgg.2023.100185

PMCID:: PMC9996439

Abstract Article PDF–2.0M

Select item 994595920.

Destabilizing NF1 variants act in a dominant negative manner through neurofibromin dimerization

Lucy C. Young, Ruby Goldstein de Salazar, Sae-Won Han, Zi Yi Stephanie Huang, Alan Merk, Matthew Drew, Joseph Darling, Vanessa Wall, Reinhard Grisshammer, Alice Cheng, Madeline R. Allison, Matthew J. Sale, Dwight V. Nissley, Dominic Esposito, Jana Ognjenovic, Frank McCormick

Proc Natl Acad Sci U S A. 2023 Jan 31; 120(5): e2208960120. Published online 2023 Jan 23. doi: 10.1073/pnas.2208960120

PMCID:: PMC9945959

Abstract Article PDF–2.4M

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