Varaico: Literature-Extracted Genetic Variants

Gene:LEP
Variant:p.G133delFs
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LEP

NM_000230.3:p.G133delFs

Associated Papers

Medical semiology of patients with monogenic obesity: A systematic review.

Renard E et al.

Obesity Reviews : an Official Journal of the International Association for the Study of Obesity, 2024

38956946 (PubMed )
Supplement: supplement_1.pdf

Classification of Congenital Leptin Deficiency.

von Schnurbein J et al.

The Journal of Clinical Endocrinology and Metabolism, 2024

Novel compound heterozygous mutations in LEP responsible for obesity in a Chinese family.

Li H et al.

Molecular Genetics and Metabolism Reports, 2024

High morbidity and mortality in children with untreated congenital deficiency of leptin or its receptor.

Saeed S et al.

Cell Reports. Medicine, 2023

A National Multicenter Study of Leptin and Leptin Receptor Deficiency and Systematic Review.

Besci Ö et al.

The Journal of Clinical Endocrinology and Metabolism, 2023

Leptin Signaling in Obesity and Colorectal Cancer.

Socol CT et al.

International Journal of Molecular Sciences, 2022

Prevalence estimates of putatively pathogenic leptin variants in the gnomAD database.

Rajcsanyi LS et al.

Plos One, 2022

36121795 (PubMed )
Supplement: pone.0266642.s001.xlsx › Leptin_gnomAD_v2.1.1_ENSG000001

Serum IGF1 and linear growth in children with congenital leptin deficiency before and after leptin substitution.

Beghini M et al.

International Journal of Obesity (2005), 2021

Study of LEP, MRAP2 and POMC genes as potential causes of severe obesity in Brazilian patients.

da Fonseca ACP et al.

Eating and Weight Disorders : Ewd, 2021

Genetic Determinants of Childhood Obesity.

Littleton SH et al.

Molecular Diagnosis & Therapy, 2020

Genetic Causes of Severe Childhood Obesity: A Remarkably High Prevalence in an Inbred Population of Pakistan.

Saeed S et al.

Diabetes, 2020

Somatic Mutations Profile of a Young Patient With Metastatic Urothelial Carcinoma Reveals Mutations in Genes Involved in Ion Channels.

Sharma J et al.

Frontiers in Oncology, 2019

31192134 (PubMed )
Supplement: Table_1.XLSX › Exonic

Genetics of Obesity in Consanguineous Populations: Toward Precision Medicine and the Discovery of Novel Obesity Genes.

Saeed S et al.

Obesity (silver Spring, Md.), 2018

GENETIC AND EPIGENETIC CAUSES OF OBESITY.

Thaker VV

Adolescent Medicine: State of the Art Reviews, 2017

Role of Leptin Deficiency, Inefficiency, and Leptin Receptors in Obesity.

Wasim M et al.

Biochemical Genetics, 2016

Monogenic forms of childhood obesity due to mutations in the leptin gene.

Funcke JB et al.

Molecular and Cellular Pediatrics, 2014

Changes in levels of peripheral hormones controlling appetite are inconsistent with hyperphagia in leptin-deficient subjects.

Saeed S et al.

Endocrine, 2014

Highly sensitive diagnosis of 43 monogenic forms of diabetes or obesity through one-step PCR-based enrichment in combination with next-generation sequencing.

Bonnefond A et al.

Diabetes Care, 2014

A novel mutation in the leptin gene (W121X) in an Egyptian family.

Mazen I et al.

Molecular Genetics and Metabolism Reports, 2014

High prevalence of leptin and melanocortin-4 receptor gene mutations in children with severe obesity from Pakistani consanguineous families.

Saeed S et al.

Molecular Genetics and Metabolism, 2012

Leptin deficiency and leptin gene mutations in obese children from Pakistan.

Fatima W et al.

International Journal of Pediatric Obesity : Ijpo : an Official Journal of the International Association for the Study of Obesity, 2011

Congenital leptin deficiency due to homozygosity for the Delta133G mutation: report of another case and evaluation of response to four years of leptin therapy.

Gibson WT et al.

The Journal of Clinical Endocrinology and Metabolism, 2004

[Recombinant DNA in the study of diabetes mellitus].

Pankov IuA

Molekuliarnaia Biologiia, 0

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."