Article

A novel human monogenic obesity trait: severe early-onset childhood obesity caused by aberrant expression of agouti-signaling protein (ASIP): a case report

2022-03-21

Abstract excerpt

<title>Abstract</title> In a patient with extreme childhood obesity, we identified a heterozygous tandem duplication at the <italic>ASIP</italic> (agouti-signaling protein) gene locus causing ubiquitous, ectopic <italic>ASIP</italic> expression. The mutation places <italic>ASIP</italic> under control of the ubiquitously active itchy E3 ubiquitin protein ligase (<italic>ITCH)</italic> promoter, driving the ubiq...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: c1929514-2b67-5656-8171-f62cd11f8d28
DOI: 10.21203/rs.3.rs-1459517/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

A novel human monogenic obesity trait: severe early-onset childhood obesity caused by aberrant expression of agouti-signaling protein (ASIP): a case reportDOI 10.21203/rs.3.rs-1459517/v1Read

Aberrant expression of agouti signaling protein (ASIP) as a cause of monogenic severe childhood obesity.Semantic proximity Read

Structure and function of ASP, the human homolog of the mouse agouti geneSemantic proximity Read

Oligogenic inheritance in severe adult obesitySemantic proximity Read

Agouti regulates adipocyte transcription factors.Semantic proximity Read

Cumulative Effects of Genetic Variants Detected in a Child with Early-Onset Non-Syndromic Obesity Due to SIM-1 Gene MutationSemantic proximity Read

Ubc9 deletion in adipocytes causes lipoatrophy in miceSemantic proximity Read

A gene duplication affecting expression of the ovine ASIP gene is responsible for white and black sheep.Semantic proximity Read

Identification and functional assessment of GPCRs across human adipogenesisSemantic proximity Read

Early-Onset Obesity: Unrecognized First Evidence for GNAS Mutations and Methylation Changes.Semantic proximity Read

Whole exome sequencing identifies RAI1 mutation in a morbidly obese child diagnosed with ROHHAD syndrome.Semantic proximity Read

Independent phenotypic plasticity axes define distinct obesity sub-typesSemantic proximity Read

Promoter or enhancer activation by CRISPRa rescues haploinsufficiency caused obesitySemantic proximity Read