Ida Moeller

Immunologic investigations into transgene directed immune-mediated myositis following delandistrogene moxeparvovec gene therapy

Rachael A. Potter, Ida Moeller, Sohrab Khan, Hélène Haegel et autres

Delandistrogene moxeparvovec is an rAAVrh74 vector-based gene transfer therapy that delivers a transgene encoding delandistrogene moxeparvovec micro-dystrophin, an engineered, functional form of dystrophin shown to stabilize or slow disease progression in DMD. It is approved in the US and in other select …

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Functional characterization of all missense variants in LEPR, PCSK1, and POMC genes arising from single-nucleotide variants

Bhavik P. Shah, Patrick Sleiman, Jessica M. Mc Donald, Ida Moeller et autres

Objective: Hyperphagia and early-onset, severe obesity are clinical characteristics of rare melanocortin-4 receptor (MC4R) pathway diseases due to loss-of-function (LOF) variants in genes comprising the MC4R pathway.In vitro functional characterization of 12,879 possible exonic missense variants from single-nucleotide variants (SNVs) of LEPR, …

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Functional characterization of all missense variants in LEPR, PCSK1, and POMC genes arising from single-nucleotide variants

Bhavik P. Shah, Patrick Sleiman, Jessica M. Mc Donald, Ida Moeller et autres

Hyperphagia and early-onset, severe obesity are clinical characteristics of rare melanocortin-4 receptor (MC4R) pathway diseases due to loss-of-function (LOF) variants in genes comprising the MC4R pathway. In vitro functional characterization of 12,879 possible exonic missense variants from single-nucleotide variants (SNVs) of LEPR, …

eP012: Biochemical characterization of single minded-1 missense variants associated with severe obesity

Megan Vogel, Ida Moeller, Alastair S. Garfield, Bhavik P. Shah

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eP124: Uncovering rare obesity genetic testing program: Overview and health care provider utilization

Jill Garrison, Ida Moeller, Alastair S. Garfield, Rick Norton

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eP412: An evidence-based framework to evaluate Melanocortin-4 Receptor (MC4R) pathway relevance for obesity-associated genes

Megan Vogel, Ida Moeller, Alastair S. Garfield, Bhavik P. Shah

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eP126: Frequency of MC4R pathway variants in a large US cohort of pediatric and adult patients with severe obesity

Eric G. Bend, Tiago Antão, Ilia Ichetovkin, Rick Norton et autres

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eP274: Frequency of Bardet-Biedl syndrome and Alström syndrome gene variants in a cohort with early-onset obesity

Joan C. Han, Ida Moeller, Eric G. Bend, Robert Haws

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eP125: Variants in obesity-related genes in a population with early-onset obesity

Patrick Kleyn, Ilia Ichetovkin, Ida Moeller

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OR22-05 Rare Biallelic Variants in Obesity-Related Genes in the Madrid Pediatric Obesity Cohort

Gabriel Ángel Martos‐Moreno, Ida Moeller, Álvaro Martín‐Rivada, Luis A. Pérez‐Jurado et autres

Abstract BACKGROUND: Obesity is a heterogenous disease resulting from environmental and genetic factors and is characterized by disordered energy balance, regulated in part by the hypothalamic melanocortin-4 receptor (MC4R), including neuronal ciliary assembly and trafficking pathways.1 Rare loss-of-function variants in genes encoding …

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Current Mechanistic and Pharmacodynamic Understanding of Melanocortin-4 Receptor Activation

Shubh D. Sharma, Alastair S. Garfield, Bhavik P. Shah, Patrick W. Kleyn et autres

In this work we summarize our understanding of melanocortin 4 receptor (MC4R) pathway activation, aiming to define a safe and effective therapeutic targeting strategy for the MC4R. Delineation of cellular MC4R pathways has provided evidence for distinct MC4R signaling events characterized by …

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Hepatic connexin 32 associates with nonalcoholic fatty liver disease severity

Jay Luther, Manish Gala, Nienke Z. Borren, Ricard Masia et autres

Emerging data highlight the critical role for the innate immune system in the progression of nonalcoholic fatty liver disease (NAFLD). Connexin 32 (Cx32), the primary liver gap junction protein, is capable of modulating hepatic innate immune responses and has been studied in …

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