Neurofibromin (NF1 ) genetic variant structure-function analyses using a full-length mouse cDNA-Reference-Cited by-同舟云学术

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Neurofibromin (NF1 ) genetic variant structure-function analyses using a full-length mouse cDNA

Published:2018-04-10 Issue:6 Volume:39 Page:816-821
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Wallis Deeann¹^ORCID,Li Kairong¹,Lui Hui¹,Hu Ke¹,Chen Mei-Jan¹,Li Jing¹,Kang Jungsoon¹,Das Shamik¹,Korf Bruce R.¹,Kesterson Robert A.¹^ORCID

Affiliation:

1. Department of Genetics; University of Alabama at Birmingham; Birmingham AL

Funder

Gilbert Family Neurofibromatosis Research Acceleration Fund

Giorgio Foundation

Nothing is Forever

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference23 articles.

1. Confirmation of the arginine-finger hypothesis for the GAP-stimulated GTP-hydrolysis reaction of Ras;Ahmadian;Nature Structural Biology,1997

2. Updated nomenclature for human and mouse neurofibromatosis type 1 genes;Anastasaki;Neurology Genetics,2017

3. A novel diagnostic method to detect truncated neurofibromin in neurofibromatosis 1;Esposito;Journal of Neurochemistry,2015

4. Birth incidence and prevalence of tumor-prone syndromes: Estimates from a UK family genetic register service;Evans;American Journal of Medical Genetics A,2010

5. Interaction between a domain of the negative regulator of the Ras-ERK pathway, SPRED1 protein, and the GTPase-activating protein-related domain of neurofibromin is implicated in legius syndrome and neurofibromatosis type 1;Hirata;Journal of Biological Chemistry,2016

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1. Genotype–Phenotype Correlation in Neurofibromatosis Type 1: Evidence for a Mild Phenotype Associated with Splicing Variants Leading to In-Frame Skipping of NF1 Exon 24 [19a];Cancers;2024-06-29

2. Functional Assays Combined with Pre-mRNA-Splicing Analysis Improve Variant Classification and Diagnostics for Individuals with Neurofibromatosis Type 1 and Legius Syndrome;Human Mutation;2023-02-15

3. Identification of Germinal Neurofibromin Hotspots;Biomedicines;2022-08-21

4. Targeted exon skipping of NF1 exon 17 as a therapeutic for neurofibromatosis type I;Molecular Therapy - Nucleic Acids;2022-06

5. Restoration of Normal NF1 Function with Antisense Morpholino Treatment of Recurrent Pathogenic Patient-Specific Variant c.1466A>G; p.Y489C;Journal of Personalized Medicine;2021-12-07

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