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Publications by Helen I. Roessler

Cantu Syndrome-Associated SUR2 (ABCC9) Mutations in Distinct Structural Domains Result in KATPchannel Gain-Of-Function by Differential Mechanisms

Journal of Biological Chemistry

Molecular Biology

English

Related publications

KATPchannel Gain-Of-Function Leads to Increased Myocardial L-Type Ca2+current and Contractility in Cantu Syndrome

Proceedings of the National Academy of Sciences of the United States of America

Multidisciplinary

English

Electrophysiologic Consequences of KATP Gain of Function in the Heart: Conduction Abnormalities in Cantu Syndrome

Cardiovascular Medicine

English

Structural Mechanism Associated With Domain Opening in Gain-Of-Function Mutations in SHP2 Phosphatase

Proteins: Structure, Function and Genetics

Structural Biology

Molecular Biology

English

Corrigendum: Gain-Of-Function SOS1 Mutations Cause a Distinctive Form of Noonan Syndrome

Nature Genetics

English

Mutations in GRHL2 Result in an Autosomal-Recessive Ectodermal Dysplasia Syndrome

American Journal of Human Genetics

English

Oculofaciocardiodental and Lenz Microphthalmia Syndromes Result From Distinct Classes of Mutations in BCOR

Nature Genetics

English

Disparate Mutations Confer Therapeutic Gain of Hsp104 Function

ACS Chemical Biology

Molecular Medicine

English

Hypertension Due to Gain-Of-Function Mutations in the Mineralocorticoid Receptor

English

Structural Insights Into Specificity and Diversity in Mechanisms of Ubiquitin Recognition by Ubiquitin-Binding Domains

Biochemical Society Transactions

English