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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 106810693.

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 106663834.

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 106144355.

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 104634166.

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 103295767.

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 101406058.

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 101193089.

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 994595910.

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

Select item 990510111.

Co-occurrence of mutations in NF1 and other susceptibility genes in pheochromocytoma and paraganglioma

Sara Mellid, Eduardo Gil, Rocío Letón, Eduardo Caleiras, Emiliano Honrado, Susan Richter, Nuria Palacios, Marcos Lahera, Juan C. Galofré, Adriá López-Fernández, Maria Calatayud, Aura D. Herrera-Martínez, María A. Galvez, Xavier Matias-Guiu, Milagros Balbín, Esther Korpershoek, Eugénie S. Lim, Francesca Maletta, Sofia Lider, Stephanie M. J. Fliedner, Nicole Bechmann, Graeme Eisenhofer, Letizia Canu, Elena Rapizzi, Irina Bancos, Mercedes Robledo, Alberto Cascón

Front Endocrinol (Lausanne) 2022; 13: 1070074. Published online 2023 Jan 25. doi: 10.3389/fendo.2022.1070074

PMCID:: PMC9905101

Abstract Article PDF–1.5M

Select item 931601512.

Genotype-Phenotype Correlations in Neurofibromatosis Type 1: Identification of Novel and Recurrent NF1 Gene Variants and Correlations with Neurocognitive Phenotype

Filomena Napolitano, Milena Dell’Aquila, Chiara Terracciano, Giuseppina Franzese, Maria Teresa Gentile, Giulio Piluso, Claudia Santoro, Davide Colavito, Anna Patanè, Paolo De Blasiis, Simone Sampaolo, Simona Paladino, Mariarosa Anna Beatrice Melone

Genes (Basel) 2022 Jul; 13(7): 1130. Published online 2022 Jun 23. doi: 10.3390/genes13071130

PMCID:: PMC9316015

Abstract Article PDF–933K

Select item 929195413.

Recurrent NF1 gene variants and their genotype/phenotype correlations in patients with Neurofibromatosis type I

Matteo Riva, Davide Martorana, Vera Uliana, Edoardo Caleffi, Elena Boschi, Livia Garavelli, Giovanni Ponti, Luca Sangiorgi, Claudio Graziano, Stefania Bigoni, Luca Maria Rocchetti, Simona Madeo, Fiorenza Soli, Enrico Grosso, Diana Carli, Matteo Goldoni, Francesco Pisani, Antonio Percesepe

Genes Chromosomes Cancer. 2022 Jan; 61(1): 10–21. Published online 2021 Sep 3. doi: 10.1002/gcc.22997

PMCID:: PMC9291954

Abstract Article PDF–1.2M

Select item 889163614.

RAS and beyond: the many faces of the neurofibromatosis type 1 protein

Corina Anastasaki, Paola Orozco, David H. Gutmann

Dis Model Mech. 2022 Feb 1; 15(2): dmm049362. Published online 2022 Feb 21. doi: 10.1242/dmm.049362

PMCID:: PMC8891636

Abstract Article

Select item 880747015.

Challenges in the diagnosis of neurofibromatosis type 1 (NF1) in young children facilitated by means of revised diagnostic criteria including genetic testing for pathogenic NF1 gene variants

Hildegard Kehrer-Sawatzki, David N. Cooper

Hum Genet. 2022; 141(2): 177–191. Published online 2021 Dec 20. doi: 10.1007/s00439-021-02410-z

PMCID:: PMC8807470

Abstract Article PDF–1.4M

Select item 868369816.

Mutational spectrum of NF1 gene in 24 unrelated Egyptian families with neurofibromatosis type 1

Nahla N. Abdel‐Aziz, Ghada Y. El‐Kamah, Rabab A. Khairat, Hanan R. Mohamed, Yehia Z. Gad, Akmal M. El‐Ghor, Khalda S. Amr

Mol Genet Genomic Med. 2021 Dec; 9(12): e1631. Published online 2021 Jun 3. doi: 10.1002/mgg3.1631

PMCID:: PMC8683698

Abstract Article PDF–1.6M

Select item 861140317.

Expression of neurofibromin 1 in colorectal cancer and cetuximab resistance

Eunyoung Tak, Minhee Kim, Youngra Cho, Sueun Choi, Jihun Kim, Buhm Han, Hyung-Don Kim, Chloe Soo-Hyun Jang, Jeong Eun Kim, Yong Sang Hong, Sun Young Kim, Tae Won Kim

Oncol Rep. 2022 Jan; 47(1): 15. Published online 2021 Nov 12. doi: 10.3892/or.2021.8226

PMCID:: PMC8611403

Abstract Article PDF–1.5M

Select item 858082318.

The structure of neurofibromin isoform 2 reveals different functional states

Andreas Naschberger, Rozbeh Baradaran, Bernhard Rupp, Marta Carroni

Nature. 2021; 599(7884): 315–319. Published online 2021 Oct 27. doi: 10.1038/s41586-021-04024-x

PMCID:: PMC8580823

Abstract Article PDF–31M

Select item 853593619.

Atypical NF1 Microdeletions: Challenges and Opportunities for Genotype/Phenotype Correlations in Patients with Large NF1 Deletions

Hildegard Kehrer-Sawatzki, Ute Wahlländer, David N. Cooper, Victor-Felix Mautner

Genes (Basel) 2021 Oct; 12(10): 1639. Published online 2021 Oct 19. doi: 10.3390/genes12101639

PMCID:: PMC8535936

Abstract Article PDF–769K

Select item 814242120.

Haploinsufficiency of the NF1 gene is associated with protection against diabetes

Roope A Kallionpää, Sirkku Peltonen, Jussi Leppävirta, Minna Pöyhönen, Kari Auranen, Hannu Järveläinen, Juha Peltonen

J Med Genet. 2021 Jun; 58(6): 378–384. Published online 2020 Jun 22. doi: 10.1136/jmedgenet-2020-107062

PMCID:: PMC8142421

Abstract Article PDF–254K

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