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Articles (215)

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1-10 of 215 results for gain of function mutation

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Select article: Bronchiectasis and Bronchiolectasis With Severe Herniating Pattern Associated With STAT1 Gain-of-Function Mutation: Detailed Clinicopathological Findings

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Case report

First published 2021-4

Bronchiectasis and Bronchiolectasis With Severe Herniating Pattern Associated With STAT1 Gain-of-Function Mutation: Detailed Clinicopathological Findings

Moe R Takeda, Manvi Bansal, Rory J Kamerman-Kretzmer [...]

Pediatric and Developmental Pathology

Select article: Oesophageal candidiasis and squamous cell cancer in patients with gain-of-function STAT1 gene mutation

Free access

Research article

First published 2017-8

Oesophageal candidiasis and squamous cell cancer in patients with gain-of-function STAT1 gene mutation

Sara Koo, Deepak Kejariwal, Tariq Al-Shehri [...]

United European Gastroenterology Journal

Select article: Using SIFT and PolyPhen to Predict Loss-of-Function and Gain-of-Function Mutations

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Research article

First published 2010-08

Using SIFT and PolyPhen to Predict Loss-of-Function and Gain-of-Function Mutations

Sarah E. Flanagan, Ann-Marie Patch, Sian Ellard

Genetic Testing and Molecular Biomarkers

Select article: Gain of function of sporadic/familial hemiplegic migraine-causing SCN1A mutations: Use of an optimized cDNA

Free access

Research article

First published 2019-4

Gain of function of sporadic/familial hemiplegic migraine-causing SCN1A mutations: Use of an optimized cDNA

Sara Bertelli, Raffaella Barbieri, Michael Pusch [...]

Cephalalgia

Select article: TRPV1 gain-of-function mutation impairs pain and itch sensations in mice

Open access

Research article

First published 2018

TRPV1 gain-of-function mutation impairs pain and itch sensations in mice

Lina Duo, Linghan Hu, Naxi Tian [...]

Molecular Pain

Select article: A novel gain-of-function Na v 1.7 mutation in a carbamazepine-responsive patient with adult-onset painful peripheral neuropathy

Open access

Research article

First published 2018

A novel gain-of-function Na v 1.7 mutation in a carbamazepine-responsive patient with adult-onset painful peripheral neuropathy

Talia Adi, Mark Estacion, Betsy R Schulman [...]

Molecular Pain

Select article: Next-Generation Sequencing of Colorectal Cancers in Chinese: Identification of a Recurrent Frame-Shift and Gain-of-Function Indel Mutation in the TFDP1 Gene

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Research article

First published 2014-10

Next-Generation Sequencing of Colorectal Cancers in Chinese: Identification of a Recurrent Frame-Shift and Gain-of-Function Indel Mutation in the TFDP1 Gene

Chen Chen, Jie Liu, Fan Zhou [...]

OMICS: A Journal of Integrative Biology

Select article: Autosomal dominant retinitis pigmentosa with toxic gain of function: Mechanisms and therapeutics

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Review article

First published 2021-3

Autosomal dominant retinitis pigmentosa with toxic gain of function: Mechanisms and therapeutics

Ishwarya Narasimhan, Aishwarya Murali, Krishnakumar Subramanian [...]

European Journal of Ophthalmology

Select article: HCN1 Gain-Of-Function Mutations – a New Cause of Epileptic Encephalopathy

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Other

First published 2014-11

HCN1 Gain-Of-Function Mutations – a New Cause of Epileptic Encephalopathy

Annapurna Poduri

Epilepsy Currents

Select article: Addressing the Challenges of Treating Patients with Heterozygous Gain of Function Mutations

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Research article

First published 2024-12

Addressing the Challenges of Treating Patients with Heterozygous Gain of Function Mutations

Stanley T. Crooke

Nucleic Acid Therapeutics

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