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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

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Research article

First published 2018-3

Loss-of-Function PCSK9 Mutations Are Not Associated With Alzheimer Disease

Martine Paquette, Yascara Grisel Luna Saavedra, Judes Poirier [...]

Journal of Geriatric Psychiatry and Neurology

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Review article

First published 2008-12

Nickel Sensitization,Hand Eczema,and Loss-of-Function Mutations in the Filaggrin Gene

Jacob Pontoppidan Thyssen, Berit Christina Carlsen, Torkil Menné

Dermatitis®

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Research article

First published 1999-10

Structure-Function Relationships of Two Loss-of-Function Mutations of the Thyrotropin Receptor Gene

Sabine Costagliola, Thongkun Sunthorntepvarakul, Isabelle Migeotte [...]

Thyroid®

Open access

Research article

First published 2021

A loss of function mutation in the filaggrin gene associated with ichthyosis vulgaris and rheumatoid arthritis

Xinxin Xu, Qingqing Ma, Mu Lin [...]

European Journal of Inflammation

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Research article

First published 2010-02

The R1141X Loss-of-Function Mutation of the ABCC6 Gene Is a Strong Genetic Risk Factor for Coronary Artery Disease

Gabriella Köblös, Hajnalka Andrikovics, Zoltán Prohászka [...]

Genetic Testing and Molecular Biomarkers

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Research article

First published 2015-03

Long-Term Outcome of Loss-of-Function Mutations in Thyrotropin Receptor Gene

Yardena Tenenbaum-Rakover, Shlomo Almashanu, Ora Hess [...]

Thyroid®

Open access

Case report

First published 2024

Belzutifan,HIF-2α Inhibitor,and Clear Cell Renal Cell Carcinoma With Somatic Von-Hippel-Lindau Loss-of-Function Mutation

Kok Hoe Chan, Ningjing Li, Ran Lador [...]

Journal of Investigative Medicine High Impact Case Reports

Free access

Other

First published 2007-3

A Possible Explanation for the Paradox of Hyperexcitability and Epilepsy in “Loss of Function” Voltage-Gated Sodium Channel Mutations

Gregory C. Mathews

Epilepsy Currents

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Research article

First published 2011-02

A Family with Congenital Hypothyroidism Caused by a Combination of Loss-of-Function Mutations in the Thyrotropin Receptor and Adenylate Cyclase-Stimulating G Alpha-Protein Subunit Genes

Joaquin Lado-Abeal, Isabel Castro-Piedras, Fernando Palos-Paz [...]

Thyroid®

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