| The genetic spectrum of NF1 variants in 10 unrelated Chinese families with neurofibromatosis type 1. | The genetic spectrum of NF1 variants in 10 unrelated Chinese families with neurofibromatosis type 1.
Chen S, Cheng H, Zhao G., Free PMC Article | 09/1/2024 |
| A Comprehensive Overview of NF1 Mutations in Iranian Patients. | A Comprehensive Overview of NF1 Mutations in Iranian Patients.
Savad S, Modarressi MH, Younesi S, Seifi-Alan M, Samadaian N, Masoomy M, Dianatpour M, Norouzi S, Amidi S, Boroumand A, Ashrafi MR, Ronagh A, Eslami M, Hashemnejad M, Nourian S, Mohammadi S, Taheri Amin MM, Heidari M, Seifi-Alan M, Shojaaldini Ardakani H, Aghamahdi F, Khalilian S, Ghafouri-Fard S. | 07/24/2024 |
| Genetic/epigenetic effects in NF1 microdeletion syndrome: beyond the haploinsufficiency, looking at the contribution of not deleted genes. | Genetic/epigenetic effects in NF1 microdeletion syndrome: beyond the haploinsufficiency, looking at the contribution of not deleted genes.
Tritto V, Bettinaglio P, Mangano E, Cesaretti C, Marasca F, Castronovo C, Bordoni R, Battaglia C, Saletti V, Ranzani V, Bodega B, Eoli M, Natacci F, Riva P., Free PMC Article | 07/5/2024 |
| MEK-SHP2 inhibition prevents tibial pseudarthrosis caused by NF1 loss in Schwann cells and skeletal stem/progenitor cells. | MEK-SHP2 inhibition prevents tibial pseudarthrosis caused by NF1 loss in Schwann cells and skeletal stem/progenitor cells.
Perrin S, Protic S, Bretegnier V, Laurendeau I, de Lageneste OD, Panara N, Ruckebusch O, Luka M, Masson C, Maillard T, Coulpier F, Pannier S, Wicart P, Hadj-Rabia S, Radomska KJ, Zarhrate M, Ménager M, Vidaud D, Topilko P, Parfait B, Colnot C. | 07/4/2024 |
| Breast cancer risk in NF1-deleted patients. | Breast cancer risk in NF1-deleted patients.
Pacot L, Masliah-Planchon J, Petcu A, Terris B, Gauthier Villars M, Lespinasse J, Wolkenstein P, Vincent-Salomon A, Vidaud D, Pasmant E. | 05/9/2024 |
| NF1-Driven Rhabdomyosarcoma Phenotypes: A Comparative Clinical and Molecular Study of NF1-Mutant Rhabdomyosarcoma and NF1-Associated Malignant Triton Tumor. | NF1-Driven Rhabdomyosarcoma Phenotypes: A Comparative Clinical and Molecular Study of NF1-Mutant Rhabdomyosarcoma and NF1-Associated Malignant Triton Tumor.
de Traux de Wardin H, Dermawan JK, Vanoli F, Jiang SC, Singer S, Chi P, Tap W, Wexler LH, Antonescu CR., Free PMC Article | 04/30/2024 |
| [Analysis of NF1 gene variants in a Chinese pedigree and a sporadic patient with Neurofibromatosis type 1]. | [Analysis of NF1 gene variants in a Chinese pedigree and a sporadic patient with Neurofibromatosis type 1].
Zhao X, Zhou K, Zhang Q, Cai L. | 04/8/2024 |
| Spatial Gene-Expression Profiling Unveils Immuno-oncogenic Programs of NF1-Associated Peripheral Nerve Sheath Tumor Progression. | Spatial Gene-Expression Profiling Unveils Immuno-oncogenic Programs of NF1-Associated Peripheral Nerve Sheath Tumor Progression.
Mitchell DK, Burgess B, White EE, Smith AE, Sierra Potchanant EA, Mang H, Hickey BE, Lu Q, Qian S, Bessler W, Li X, Jiang L, Brewster K, Temm C, Horvai A, Albright EA, Fishel ML, Pratilas CA, Angus SP, Clapp DW, Rhodes SD., Free PMC Article | 03/4/2024 |
| NF1 deficiency drives metabolic reprogramming in ER+ breast cancer. | NF1 deficiency drives metabolic reprogramming in ER+ breast cancer.
House RRJ, Tovar EA, Redlon LN, Essenburg CJ, Dischinger PS, Ellis AE, Beddows I, Sheldon RD, Lien EC, Graveel CR, Steensma MR., Free PMC Article | 02/14/2024 |
| Biallelic inactivation of the NF1 tumour suppressor gene in juvenile myelomonocytic leukaemia: Genetic evidence of driver function and implications for diagnostic workup. | Biallelic inactivation of the NF1 tumour suppressor gene in juvenile myelomonocytic leukaemia: Genetic evidence of driver function and implications for diagnostic workup.
Ramamoorthy S, Lebrecht D, Schanze D, Schanze I, Wieland I, Andrieux G, Metzger P, Hess M, Albert MH, Borkhardt A, Bresters D, Buechner J, Catala A, De Haas V, Dworzak M, Erlacher M, Hasle H, Jahnukainen K, Locatelli F, Masetti R, Stary J, Turkiewicz D, Vinci L, Wlodarski MW, Yoshimi A, Boerries M, Niemeyer CM, Zenker M, Flotho C. | 02/8/2024 |
| Childhood-Onset Refractory Hypertension Results from Neurofibromatosis Type 1 Caused by a Splicing NF1 Mutation. | Childhood-Onset Refractory Hypertension Results from Neurofibromatosis Type 1 Caused by a Splicing NF1 Mutation.
Lu YT, Rejiepu B, Zhang D, Cai DC, Yang KQ, Tian T, Zhou XL, Fan P., Free PMC Article | 01/11/2024 |
| Distinct Transcriptional Profiles in the Different Phenotypes of Neurofibroma from the Same Subject with Neurofibromatosis 1. | Distinct Transcriptional Profiles in the Different Phenotypes of Neurofibroma from the Same Subject with Neurofibromatosis 1.
Wang WN, Koguchi-Yoshioka H, Nimura K, Watanabe R, Tanemura A, Fujimoto M, Wataya-Kaneda M. | 12/26/2023 |
| Neurofibromin 1 mutations impair the function of human induced pluripotent stem cell-derived microglia. | Neurofibromin 1 mutations impair the function of human induced pluripotent stem cell-derived microglia.
Kuhrt LD, Motta E, Elmadany N, Weidling H, Fritsche-Guenther R, Efe IE, Cobb O, Chatterjee J, Boggs LG, Schnauß M, Diecke S, Semtner M, Anastasaki C, Gutmann DH, Kettenmann H., Free PMC Article | 12/21/2023 |
| 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. | 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.
Yoo HK, Porteous A, Ng A, Haria K, Griffiths A, Lloyd A, Yang X, Kazeem G, Barut V., Free PMC Article | 11/28/2023 |
| Evaluation of Molecular and Clinical Findings in Children With Neurofibromatosis Type 1: Identification of 15 Novel Variants. | Evaluation of Molecular and Clinical Findings in Children With Neurofibromatosis Type 1: Identification of 15 Novel Variants.
Bildirici Y, Kocaaga A, Karademir-Arslan CN, Yimenicioglu S. | 11/27/2023 |
| Spontaneous malignant transformation of trigeminal schwannoma: consideration of responsible gene alterations for tumorigenesis-a case report. | Spontaneous malignant transformation of trigeminal schwannoma: consideration of responsible gene alterations for tumorigenesis-a case report.
Ogasawara N, Yamashita S, Yamasaki K, Kawano T, Kawano T, Muta J, Matsumoto F, Watanabe T, Ohta H, Yokogami K, Fukushima T, Sato Y, Takeshima H. | 11/16/2023 |
| Differential Gene Expression Profiles and Pathways Highlight the Role of Osteoimmunology in Neurofibromatosis Type 1-Related Dystrophic Scoliosis With Osteopenia. | Differential Gene Expression Profiles and Pathways Highlight the Role of Osteoimmunology in Neurofibromatosis Type 1-Related Dystrophic Scoliosis With Osteopenia.
Li S, Wu Z, Ma Y, Zhu Y, Feng Z, Zhu Z, Qiu Y, Mao S. | 11/1/2023 |
| IGF2BP3 mediates the mRNA degradation of NF1 to promote triple-negative breast cancer progression via an m6A-dependent manner. | IGF2BP3 mediates the mRNA degradation of NF1 to promote triple-negative breast cancer progression via an m6A-dependent manner.
Zhang X, Shi L, Sun HD, Wang ZW, Xu F, Wei JF, Ding Q., Free PMC Article | 09/29/2023 |
| Aberrant oscillatory activity in neurofibromatosis type 1: an EEG study of resting state and working memory. | Aberrant oscillatory activity in neurofibromatosis type 1: an EEG study of resting state and working memory.
Booth SJ, Garg S, Brown LJE, Green J, Pobric G, Taylor JR., Free PMC Article | 08/30/2023 |
| Detecting Low-Variant Allele Frequency Mosaic Pathogenic Variants of NF1, TSC2, and AKT3 Genes from Blood in Patients with Neurodevelopmental Disorders. | Detecting Low-Variant Allele Frequency Mosaic Pathogenic Variants of NF1, TSC2, and AKT3 Genes from Blood in Patients with Neurodevelopmental Disorders.
Kim SH, Kwon SS, Park MR, Lee HA, Kim JH, Cha J, Kim S, Baek ST, Kim SH, Lee JS, Kim HD, Choi JR, Lee ST, Kang HC. | 08/3/2023 |
| Neurological comorbidities and novel mutations in Turkish cases with neurofibromatosis type 1. | Neurological comorbidities and novel mutations in Turkish cases with neurofibromatosis type 1.
Evlice A, Bişgin A, Koç F. | 07/27/2023 |
| 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. | 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.
Koczkowska M, Chen Y, Xie J, Callens T, Gomes A, Wimmer K, Messiaen LM., Free PMC Article | 07/12/2023 |
| Splicing annotation of endometrial cancer GWAS risk loci reveals potentially causal variants and supports a role for NF1 and SKAP1 as susceptibility genes. | Splicing annotation of endometrial cancer GWAS risk loci reveals potentially causal variants and supports a role for NF1 and SKAP1 as susceptibility genes.
Canson DM, O'Mara TA, Spurdle AB, Glubb DM., Free PMC Article | 06/15/2023 |
| Domain landscapes of somatic NF1 mutations in pheochromocytoma and paraganglioma. | Domain landscapes of somatic NF1 mutations in pheochromocytoma and paraganglioma.
Tabebi M, Frikha F, Volpe M, Gimm O, Söderkvist P. | 06/1/2023 |
| The oncogenic role of NF1 in gallbladder cancer through regulation of YAP1 stability by direct interaction with YAP1. | The oncogenic role of NF1 in gallbladder cancer through regulation of YAP1 stability by direct interaction with YAP1.
Zhang L, Jiang L, Zeng L, Jin Z, Dong X, Zhang Y, Chen L, Shu Y, Liu Y, Huang Y., Free PMC Article | 05/22/2023 |