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Items: 1 to 20 of 102

1.
Affinity Purification of NF1 Protein–Protein Interactors Identifies Keratins and Neurofibromin Itself as Binding Partners
Rachel M. Carnes, Robert A. Kesterson, Bruce R. Korf, James A. Mobley, Deeann Wallis
Genes (Basel) 2019 Sep; 10(9): 650. Published online 2019 Aug 28. doi: 10.3390/genes10090650
PMCID:
PMC6770187
AbstractArticlePDF–1.1M
2.
Clinical characteristics and mutation Spectrum of NF1 in 12 Chinese families with orbital/periorbital plexiform Neurofibromatosis type 1
Peiwei Chai, Yingxiu Luo, Chuandi Zhou, Yefei Wang, Xianqun Fan, Renbing Jia
BMC Med Genet. 2019; 20: 158. Published online 2019 Sep 18. doi: 10.1186/s12881-019-0877-9
PMCID:
PMC6749707
AbstractArticlePDF–1.2M
3.
Knockdown of HMGA2 regulates the level of autophagy via interactions between MSI2 and Beclin1 to inhibit NF1-associated malignant peripheral nerve sheath tumour growth
Kang Yang, Wei Guo, Tingting Ren, Yi Huang, Yu Han, Hongliang Zhang, Jie Zhang
J Exp Clin Cancer Res. 2019; 38: 185. Published online 2019 May 3. doi: 10.1186/s13046-019-1183-2
PMCID:
PMC6500071
AbstractArticlePDF–20M
4.
C→U Editing of Neurofibromatosis 1 mRNA Occurs in Tumors That Express Both the Type II Transcript and apobec-1, the Catalytic Subunit of the Apolipoprotein B mRNA–Editing Enzyme
Debnath Mukhopadhyay, Shrikant Anant, Robert M. Lee, Susan Kennedy, David Viskochil, Nicholas O. Davidson
Am J Hum Genet. 2002 Jan; 70(1): 38–50. Published online 2001 Nov 27. doi: 10.1086/337952
PMCID:
PMC384902
AbstractArticlePDF–685K
5.
The neurofibromatosis type I messenger RNA undergoes base-modification RNA editing.
G R Skuse, A J Cappione, M Sowden, L J Metheny, H C Smith
Nucleic Acids Res. 1996 Feb 1; 24(3): 478–485. doi: 10.1093/nar/24.3.478
PMCID:
PMC145654
SummaryPDF–129K
6.
In-silico Analysis of NF1 Missense Variants in ClinVar: Translating Variant Predictions into Variant Interpretation and Classification
Matteo Accetturo, Nicola Bartolomeo, Alessandro Stella
Int J Mol Sci. 2020 Feb; 21(3): 721. Published online 2020 Jan 22. doi: 10.3390/ijms21030721
PMCID:
PMC7037781
AbstractArticlePDF–2.3M
7.
Development and Validation of a 34-Gene Inherited Cancer Predisposition Panel Using Next-Generation Sequencing
Sun Hee Rosenthal, Weimin Sun, Ke Zhang, Yan Liu, Quoclinh Nguyen, Anna Gerasimova, Camille Nery, Linda Cheng, Carolyn Castonguay, Elaine Hiller, James Li, Christopher Elzinga, David Wolfson, Alla Smolgovsky, Rebecca Chen, Arlene Buller-Burckle, Joseph Catanese, Andrew Grupe, Felicitas Lacbawan, Renius Owen
Biomed Res Int. 2020; 2020: 3289023. Published online 2020 Jan 22. doi: 10.1155/2020/3289023
PMCID:
PMC6998746
AbstractArticlePDF–443K
8.
Biochemical and structural analyses reveal that the tumor suppressor neurofibromin (NF1) forms a high-affinity dimer
Mukul Sherekar, Sae-Won Han, Rodolfo Ghirlando, Simon Messing, Matthew Drew, Dana Rabara, Timothy Waybright, Puneet Juneja, Hugh O'Neill, Christopher B. Stanley, Debsindhu Bhowmik, Arvind Ramanathan, Sriram Subramaniam, Dwight V. Nissley, William Gillette, Frank McCormick, Dominic Esposito
J Biol Chem. 2020 Jan 24; 295(4): 1105–1119. Published online 2019 Dec 13. doi: 10.1074/jbc.RA119.010934
PMCID:
PMC6983858
AbstractArticlePDF–2.5M
9.
Spinal neurofibromatosis with NF1 mutation in a classic neurofibromatosis type 1 family: A case report and literature review
Zeqian Ning, Zhiqian Yang, Gaofei Chen, Wenjiao Wu, Longshuang He, Yesheng Sun, Dongpeng Cai, Wei Zhang
Mol Genet Genomic Med. 2020 Jan; 8(1): e1035. Published online 2019 Nov 11. doi: 10.1002/mgg3.1035
PMCID:
PMC6978228
AbstractArticlePDF–986K
10.
Risk of Optic Pathway Glioma in Neurofibromatosis Type 1: No Evidence of Genotype–Phenotype Correlations in a Large Independent Cohort
Giulia Melloni, Marica Eoli, Claudia Cesaretti, Donatella Bianchessi, Maria Cristina Ibba, Silvia Esposito, Giulietta Scuvera, Guido Morcaldi, Roberto Micheli, Elena Piozzi, Sabrina Avignone, Luisa Chiapparini, Chiara Pantaleoni, Federica Natacci, Gaetano Finocchiaro, Veronica Saletti
Cancers (Basel) 2019 Dec; 11(12): 1838. Published online 2019 Nov 21. doi: 10.3390/cancers11121838
PMCID:
PMC6966666
AbstractArticlePDF–1.3M
11.
Clinical Presentation and Novel Pathogenic Variants among 68 Chinese Neurofibromatosis 1 Children
Ruen Yao, Tingting Yu, Yufei Xu, Li Yu, Jiwen Wang, Xiumin Wang, Jian Wang, Yiping Shen
Genes (Basel) 2019 Nov; 10(11): 847. Published online 2019 Oct 26. doi: 10.3390/genes10110847
PMCID:
PMC6896037
AbstractArticlePDF–694K
12.
Prevalence, Type, and Molecular Spectrum of NF1 Mutations in Patients with Neurofibromatosis Type 1 and Congenital Heart Disease
Valentina Pinna, Paola Daniele, Giulio Calcagni, Lucio Mariniello, Roberta Criscione, Chiara Giardina, Francesca Romana Lepri, Hossein Hozhabri, Angela Alberico, Stefania Cavone, Annunziata Tina Morella, Roberta Mandile, Francesca Annunziata, Niccolò Di Giosaffatte, Maria Cecilia D’Asdia, Paolo Versacci, Rossella Capolino, Pietro Strisciuglio, Sandra Giustini, Daniela Melis, Maria Cristina Digilio, Marco Tartaglia, Bruno Marino, Alessandro De Luca
Genes (Basel) 2019 Sep; 10(9): 675. Published online 2019 Sep 4. doi: 10.3390/genes10090675
PMCID:
PMC6770533
AbstractArticlePDF–640K
13.
Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation
Magdalena Koczkowska, Tom Callens, Alicia Gomes, Angela Sharp, Yunjia Chen, Alesha D. Hicks, Arthur S. Aylsworth, Amedeo A. Azizi, Donald G. Basel, Gary Bellus, Lynne M. Bird, Maria A. Blazo, Leah W. Burke, Ashley Cannon, Felicity Collins, Colette DeFilippo, Ellen Denayer, Maria C. Digilio, Shelley K. Dills, Laura Dosa, Robert S. Greenwood, Cristin Griffis, Punita Gupta, Rachel K. Hachen, Concepción Hernández-Chico, Sandra Janssens, Kristi J. Jones, Justin T. Jordan, Peter Kannu, Bruce R. Korf, Andrea M. Lewis, Robert H. Listernick, Fortunato Lonardo, Maurice J. Mahoney, Mayra Martinez Ojeda, Marie T. McDonald, Carey McDougall, Nancy Mendelsohn, David T. Miller, Mari Mori, Rianne Oostenbrink, Sebastién Perreault, Mary Ella Pierpont, Carmelo Piscopo, Dinel A. Pond, Linda M. Randolph, Katherine A. Rauen, Surya Rednam, S. Lane Rutledge, Veronica Saletti, G. Bradley Schaefer, Elizabeth K. Schorry, Daryl A. Scott, Andrea Shugar, Elizabeth Siqveland, Lois J. Starr, Ashraf Syed, Pamela L. Trapane, Nicole J. Ullrich, Emily G. Wakefield, Laurence E. Walsh, Michael F. Wangler, Elaine Zackai, Kathleen B. M. Claes, Katharina Wimmer, Rick van Minkelen, Alessandro De Luca, Yolanda Martin, Eric Legius, Ludwine M. Messiaen
Genet Med. 2019; 21(4): 867–876. Published online 2018 Sep 7. doi: 10.1038/s41436-018-0269-0
Correction in:
Genet Med. 2019; 21(3): 764–765.
PMCID:
PMC6752285
AbstractArticlePDF–349K
14.
Isolated Pheochromocytoma in a 73-Year-Old Man With No Clinical Manifestations of Type 1 Neurofibromatosis Carrying an Unsuspected Deletion of the Entire NF1 Gene
Stefanie Parisien-La Salle, Nadine Dumas, Geneviève Rondeau, Mathieu Latour, Isabelle Bourdeau
Front Endocrinol (Lausanne) 2019; 10: 546. Published online 2019 Aug 20. doi: 10.3389/fendo.2019.00546
PMCID:
PMC6736565
AbstractArticlePDF–870K
15.
Clinical and Genetic Findings in Children with Neurofibromatosis Type 1, Legius Syndrome, and Other Related Neurocutaneous Disorders
Teresa Giugliano, Claudia Santoro, Annalaura Torella, Francesca Del Vecchio Blanco, Anna Grandone, Maria Elena Onore, Mariarosa Anna Beatrice Melone, Giulia Straccia, Daniela Melis, Vincenzo Piccolo, Giuseppe Limongelli, Salvatore Buono, Silverio Perrotta, Vincenzo Nigro, Giulio Piluso
Genes (Basel) 2019 Aug; 10(8): 580. Published online 2019 Jul 31. doi: 10.3390/genes10080580
PMCID:
PMC6722641
AbstractArticlePDF–302K
16.
Two Novel NF1 Pathogenic Variants Causing the Creation of a New Splice Site in Patients With Neurofibromatosis Type I
Vita Setrajcic Dragos, Ana Blatnik, Gasper Klancar, Vida Stegel, Mateja Krajc, Olga Blatnik, Srdjan Novakovic
Front Genet. 2019; 10: 762. Published online 2019 Aug 22. doi: 10.3389/fgene.2019.00762
PMCID:
PMC6714493
AbstractArticlePDF–1.5M
17.
Characterization of the c.793-1G > A splicing variant in CHEK2 gene as pathogenic: a case report
Konstantinos Agiannitopoulos, Eirini Papadopoulou, Georgios N. Tsaousis, Georgia Pepe, Stavroula Kampouri, Mehmet Ali Kocdor, George Nasioulas
BMC Med Genet. 2019; 20: 131. Published online 2019 Jul 26. doi: 10.1186/s12881-019-0862-3
PMCID:
PMC6660672
AbstractArticlePDF–786K
18.
Feasibility of Using NF1-GRD and AAV for Gene Replacement Therapy in NF1-Associated Tumors
Ren-Yuan Bai, Dominic Esposito, Ada J. Tam, Frank McCormick, Gregory J. Riggins, D. Wade Clapp, Verena Staedtke
Gene Ther. Author manuscript; available in PMC 2019 Nov 24.
Published in final edited form as: Gene Ther. 2019 Jun; 26(6): 277–286. Published online 2019 May 24. doi: 10.1038/s41434-019-0080-9
PMCID:
PMC6588423
AbstractArticlePDF–1.5M
19.
Clinical utility in infants with suspected monogenic conditions through next‐generation sequencing
Sha Hong, Li Wang, Dongying Zhao, Yonghong Zhang, Yan Chen, Jintong Tan, Lili Liang, Tianwen Zhu
Mol Genet Genomic Med. 2019 Jun; 7(6): e684. Published online 2019 Apr 9. doi: 10.1002/mgg3.684
PMCID:
PMC6565546
AbstractArticlePDF–931K
20.
Analysis of hereditary cancer syndromes by using a panel of genes: novel and multiple pathogenic mutations
Georgios N. Tsaousis, Eirini Papadopoulou, Angela Apessos, Konstantinos Agiannitopoulos, Georgia Pepe, Stavroula Kampouri, Nikolaos Diamantopoulos, Theofanis Floros, Rodoniki Iosifidou, Ourania Katopodi, Anna Koumarianou, Christos Markopoulos, Konstantinos Papazisis, Vasileios Venizelos, Ioannis Xanthakis, Grigorios Xepapadakis, Eugeniu Banu, Dan Tudor Eniu, Serban Negru, Dana Lucia Stanculeanu, Andrei Ungureanu, Vahit Ozmen, Sualp Tansan, Mehmet Tekinel, Suayib Yalcin, George Nasioulas
BMC Cancer. 2019; 19: 535. Published online 2019 Jun 3. doi: 10.1186/s12885-019-5756-4
PMCID:
PMC6547505
AbstractArticlePDF–2.1M

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