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Gene-targeted therapy for neurofibromatosis and schwannomatosis: The path to clinical trials

Clinical trials (London, England), 2024-02, Vol.21 (1), p.51-66

2024

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Vapb/Amyotrophic lateral sclerosis 8 knock-in mice display slowly progressive motor behavior defects accompanying ER stress and autophagic response

Human molecular genetics, 2015-11, Vol.24 (22), p.6515-6529

2015

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Gfi1 functions downstream of Math1 to control intestinal secretory cell subtype allocation and differentiation

Genes & development, 2005-10, Vol.19 (20), p.2412-2417

2005

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Initial characterization of mice null for Lphn3 , a gene implicated in ADHD and addiction

Brain research, 2012-06, Vol.1463, p.85-92

2012

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Autism-Like Behavior and Epigenetic Changes Associated with Autism as Consequences of In Utero Exposure to Environmental Pollutants in a Mouse Model

Behavioural neurology, 2015-01, Vol.2015, p.426263-10

2015

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Targeted exon skipping of NF1 exon 17 as a therapeutic for neurofibromatosis type I

Molecular therapy. Nucleic acids, 2022-06, Vol.28, p.261-278

2022

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Affinity Purification of NF1 Protein-Protein Interactors Identifies Keratins and Neurofibromin Itself as Binding Partners

Genes, 2019-08, Vol.10 (9), p.650

2019

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Mutation-Directed Therapeutics for Neurofibromatosis Type I

Molecular therapy. Nucleic acids, 2020-06, Vol.20, p.739-753

2020

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Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly

Nature genetics, 1999-06, Vol.22 (2), p.196-198

1999

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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, Vol.11 (12), p.1320

2021

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Functional genomics screening utilizing mutant mouse embryonic stem cells identifies novel radiation-response genes

PloS one, 2015-04, Vol.10 (4), p.e0120534-e0120534

2015

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The zinc finger transcription factor Gfi1, implicated in lymphomagenesis, is required for inner ear hair cell differentiation and survival

Development (Cambridge), 2003-01, Vol.130 (1), p.221-232

2003

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Growth factor independence-1 is expressed in primary human neuroendocrine lung carcinomas and mediates the differentiation of murine pulmonary neuroendocrine cells

Cancer research (Chicago, Ill.), 2004-10, Vol.64 (19), p.6874-6882

2004

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Functional characterization and potential therapeutic avenues for variants in the NTRK2 gene causing developmental and epileptic encephalopathies

American journal of medical genetics. Part B, Neuropsychiatric genetics, 2022-01, Vol.189 (1-2), p.37-47

2022

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Status and Recommendations for Incorporating Biomarkers for Cutaneous Neurofibromas Into Clinical Research

Neurology, 2021-08, Vol.97 (7 Suppl 1), p.S42

2021

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Analysis of patient‐specific NF1 variants leads to functional insights for Ras signaling that can impact personalized medicine

Human mutation, 2022-01, Vol.43 (1), p.30-41

2022

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Tryptophan Biosynthesis Protects Mycobacteria from CD4 T-Cell-Mediated Killing

Cell, 2013-12, Vol.155 (6), p.1296-1308

2013

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The UAB Center for Precision Animal Modeling (C-PAM)

Molecular genetics and metabolism, 2021-04, Vol.132, p.S179

2021

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eP284 - The UAB Center for Precision Animal Modeling (C-PAM)

Molecular genetics and metabolism, 2021-04, Vol.132, p.S179-S179

2021

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

Human mutation, 2018-06, Vol.39 (6), p.816-821

2018

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Multi‐Omics Profiling for NF1 Target Discovery in Neurofibromin (NF1) Deficient Cells

Proteomics (Weinheim), 2019-06, Vol.19 (11), p.e1800334-n/a

2019

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Abstract 1726: Loss of NF1 drives hormone dependent mammary carcinogenesis in a rat model with intact immune system

Cancer research (Chicago, Ill.), 2023-04, Vol.83 (7_Supplement), p.1726-1726

2023

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Review: Genetics of Attention Deficit/Hyperactivity Disorder

Journal of pediatric psychology, 2008-11, Vol.33 (10), p.1085-1099

2008

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Abstract P3-08-01: Loss of NF1 drives hormone dependent mammary carcinogenesis in a rat model with intact immune system

Cancer research (Chicago, Ill.), 2023-03, Vol.83 (5_Supplement), p.P3-P3-08-01

2023

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Gene-targeted therapy for neurofibromatosis and schwannomatosis: The path to clinical trials

Vapb/Amyotrophic lateral sclerosis 8 knock-in mice display slowly progressive motor behavior defects accompanying ER stress and autophagic response

Gfi1 functions downstream of Math1 to control intestinal secretory cell subtype allocation and differentiation

Initial characterization of mice null for Lphn3 , a gene implicated in ADHD and addiction

Autism-Like Behavior and Epigenetic Changes Associated with Autism as Consequences of In Utero Exposure to Environmental Pollutants in a Mouse Model

Targeted exon skipping of NF1 exon 17 as a therapeutic for neurofibromatosis type I

Affinity Purification of NF1 Protein-Protein Interactors Identifies Keratins and Neurofibromin Itself as Binding Partners

Mutation-Directed Therapeutics for Neurofibromatosis Type I

Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly

Restoration of Normal NF1 Function with Antisense Morpholino Treatment of Recurrent Pathogenic Patient-Specific Variant c.1466A>G; p.Y489C

Functional genomics screening utilizing mutant mouse embryonic stem cells identifies novel radiation-response genes

The zinc finger transcription factor Gfi1, implicated in lymphomagenesis, is required for inner ear hair cell differentiation and survival

Growth factor independence-1 is expressed in primary human neuroendocrine lung carcinomas and mediates the differentiation of murine pulmonary neuroendocrine cells

Functional characterization and potential therapeutic avenues for variants in the NTRK2 gene causing developmental and epileptic encephalopathies

Status and Recommendations for Incorporating Biomarkers for Cutaneous Neurofibromas Into Clinical Research

Development of a Novel Lead that Targets M. tuberculosis Polyketide Synthase 13

Analysis of patient‐specific NF1 variants leads to functional insights for Ras signaling that can impact personalized medicine

Tryptophan Biosynthesis Protects Mycobacteria from CD4 T-Cell-Mediated Killing

The UAB Center for Precision Animal Modeling (C-PAM)

eP284 - The UAB Center for Precision Animal Modeling (C-PAM)

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

Multi‐Omics Profiling for NF1 Target Discovery in Neurofibromin (NF1) Deficient Cells

Abstract 1726: Loss of NF1 drives hormone dependent mammary carcinogenesis in a rat model with intact immune system

Review: Genetics of Attention Deficit/Hyperactivity Disorder

Abstract P3-08-01: Loss of NF1 drives hormone dependent mammary carcinogenesis in a rat model with intact immune system

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