Homozygous deletion of an 80 kb region comprising part of DNAJC6 and LEPR genes on chromosome 1P31.3 is associated with early onset obesity, mental retardation and epilepsy.

No abstract is available for this paper.

• Publication year

  2012

• Venue

  Molecular Genetics and Metabolism

• Publication date

  2012-07-01

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1016/j.ymgme.2012.04.026PMID 22647716
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Insertion of 16 amino acids in the BAR domain of the oligophrenin 1 protein causes mental retardation and cerebellar hypoplasia in an Italian family

  2011cited by this paper
• Endospanins Regulate a Postinternalization Step of the Leptin Receptor Endocytic Pathway*

  2011cited by this paper
• Homozygosity for a novel missense mutation in the leptin receptor gene (P316T) in two Egyptian cousins with severe early onset obesity.

  2011cited by this paper
• Recruitment of endophilin to clathrin-coated pit necks is required for efficient vesicle uncoating after fission.

  2011cited by this paper
• Obesity and leptin resistance: distinguishing cause from effect.

  2010cited by this paper
• Endocytosis and clathrin-uncoating defects at synapses of auxilin knockout mice

  2010cited by this paper
• A Missense Mutation in a Highly Conserved Alternate Exon of Dynamin-1 Causes Epilepsy in Fitful Mice

  2010cited by this paper
• The Rho-linked mental retardation protein OPHN1 controls synaptic vesicle endocytosis via endophilin A1.

  2009cited by this paper
• LEPROT and LEPROTL1 cooperatively decrease hepatic growth hormone action in mice.

  2009cited by this paper
• 2q23.1 microdeletion identified by array comparative genomic hybridisation: an emerging phenotype with Angelman-like features?

  2008cited by this paper
• Silencing of OB-RGRP in mouse hypothalamic arcuate nucleus increases leptin receptor signaling and prevents diet-induced obesity

  2007cited by this paper
• Clinical and molecular genetic spectrum of congenital deficiency of the leptin receptor.

  2007cited by this paper
• MLPA screening reveals novel subtelomeric rearrangements in holoprosencephaly

  2007cited by this paper
• Hyperphagia, Severe Obesity, Impaired Cognitive Function, and Hyperactivity Associated With Functional Loss of One Copy of the Brain-Derived Neurotrophic Factor (BDNF) Gene

  2006cited by this paper
• A de novo mutation affecting human TrkB associated with severe obesity and developmental delay

  2004cited by this paper
• Specific clinical and brain MRI features in mentally retarded patients with mutations in the Oligophrenin‐1 gene

  2004cited by this paper
• Diet, obesity, and cardiovascular risk.

  2003cited by this paper
• Minireview: human obesity-lessons from monogenic disorders.

  2003cited by this paper
• Delayed reentry of recycling vesicles into the fusion-competent synaptic vesicle pool in synaptojanin 1 knockout mice

  2002cited by this paper
• Beneficial effects of leptin on obesity, T cell hyporesponsiveness, and neuroendocrine/metabolic dysfunction of human congenital leptin deficiency.

  2002cited by this paper
• Decreased synaptic vesicle recycling efficiency and cognitive deficits in amphiphysin 1 knockout mice.

  2002cited by this paper
• Clathrin uncoating: Auxilin comes to life.

  2001cited by this paper
• Cloning and characterization of a novel human leptin receptor overlapping transcript-like 1 gene (LEPROTL1).

  2001cited by this paper
• Metabolism: Partial leptin deficiency and human adiposity

  2001cited by this paper
• Essential role of phosphoinositide metabolism in synaptic vesicle recycling.

  1999cited by this paper
• Heterozygosity for Lep(ob) or Lep(rdb) affects body composition and leptin homeostasis in adult mice.

  1998cited by this paper
• A mutation in the human leptin receptor gene causes obesity and pituitary dysfunction

  1998cited by this paper
• Heterozygosity for Lepob or Leprdb affects body composition and leptin homeostasis in adult mice.

  1998cited by this paper
• The Leptin Receptor*

  1997cited by this paper
• The leptin receptor promoter controls expression of a second distinct protein.

  1997cited by this paper
• Novel B219/OB receptor isoforms: Possible role of leptin in hematopoiesis and reproduction

  1996cited by this paper
• Identification and expression cloning of a leptin receptor, OB-R.

  1995cited by this paper
• Positional cloning of the mouse obese gene and its human homologue

  1995cited by this paper
• Positional cloning of the mouse obese gene and its human homologue

  1994cited by this paper

• Identification of bipolar disorder related biomarkers, signaling pathways and potential therapeutic compounds based on bioinformatics methods and molecular docking technology

  2025cites this paper
• Genomic Insights into Derived Dwarfism and Exudivory in a Genus (Callithrix) of the World’s Smallest Anthropoid Monkeys

  2025cites this paper
• Whole-body deletion of Endospanin 1 protects from obesity-associated deleterious metabolic alterations

  2024cites this paper
• Risk Factors Related to Resting Metabolic Rate-Related DNAJC6 Gene Variation in Children with Overweight/Obesity: 3-Year Panel Study

  2024influential citation
• Medical semiology of patients with monogenic obesity: A systematic review

  2024cites this paper
• A National Multicenter Study of Leptin (LEP) and Leptin Receptor (LEPR) Deficiency and Systematic Review.

  2023cites this paper
• Association between LEPR Genotype and Gut Microbiome in Healthy Non-Obese Korean Adults

  2023cites this paper
• Congenital leptin and leptin receptor deficiencies in nine new families: identification of six novel variants and review of literature

  2023cites this paper
• Pediatric-Onset Epilepsy and Developmental Epileptic Encephalopathies Followed by Early-Onset Parkinsonism

  2023cites this paper
• Screening of non-syndromic early-onset child and adolescent obese patients in terms of LEP, LEPR, MC4R and POMC gene variants by next-generation sequencing

  2022cites this paper
• RMR-Related DNAJC6 Expression Suppresses Adipogenesis in 3T3-L1 Cells

  2022cites this paper
• The spectrum of the Prader-Willi-like pheno- and genotype: A review of the literature.

  2021cites this paper
• Leptin Receptor Compound Heterozygosity in Humans and Animal Models

  2021cites this paper
• Phenotypic and genotypic characterization of families with complex intellectual disability identified pathogenic genetic variations in known and novel disease genes

  2020cites this paper
• DNAJC6 Mutations Disrupt Dopamine Homeostasis in Juvenile Parkinsonism‐Dystonia

  2020cites this paper
• Leptin receptor deficiency: a systematic literature review and prevalence estimation based on population genetics.

  2020cites this paper
• Epilepsy and obesity: A complex interaction

  2019cites this paper
• A toddler with a novel LEPR mutation

  2019cites this paper
• DNAJC proteins and pathways to parkinsonism

  2019cites this paper
• Genetics of Obesity in Consanguineous Populations: Toward Precision Medicine and the Discovery of Novel Obesity Genes

  2018cites this paper
• [Traffic and signalisation of the leptin receptor].

  2018cites this paper
• Obesity genetics: insights from the Pakistani population

  2018cites this paper
• Endospanin 1 Determines the Balance of Leptin-Regulated Hypothalamic Functions

  2018cites this paper
• Functional and Phenotypic Characteristics of Human Leptin Receptor Mutations

  2018cites this paper
• DNAJ Proteins in neurodegeneration: essential and protective factors

  2018influential citation
• A Case of Congenital Hypopituitarism Associated With a 1p31 Microdeletion: A Possible Role for LEPR and JAK1

  2017cites this paper
• The metabolic effects of leptin therapy and glucagon suppression therapy in mouse models of diabetes

  2017cites this paper
• A CNV Catalogue

  2017cites this paper
• Les obésités monogéniques chez l’enfant

  2017cites this paper
• PTRHD1 (C2orf79) mutations lead to autosomal‐recessive intellectual disability and parkinsonism

  2017cites this paper
• Genetics of movement disorders in the next‐generation sequencing era

  2016cites this paper
• Endospanin1 affects oppositely body weight regulation and glucose homeostasis by differentially regulating central leptin signaling

  2016cites this paper
• Novel Leptin Receptor Mutations Identified in Two Girls with Severe Obesity Are Associated with Increased Bone Mineral Density

  2016cites this paper
• DNAJC6 Mutations Associated With Early‐Onset Parkinson's Disease

  2016cites this paper
• Genetic variants in LEP, LEPR, and MC4R explain 30% of severe obesity in children from a consanguineous population

  2015cites this paper
• Genetics of Atypical Parkinsonism

  2015cites this paper
• Leptin Receptors and Mechanism of Action

  2015cites this paper
• Hsp40 Co-chaperones as Drug Targets: Towards the Development of Specific Inhibitors

  2015cites this paper
• Obesity and its association with generalised epilepsy, idiopathic syndrome, and family history of epilepsy.

  2014cites this paper
• The relationship between genes affecting the development of epilepsy and approaches to epilepsy therapy

  2014cites this paper
• DNAJC6 promotes hepatocellular carcinoma progression through induction of epithelial-mesenchymal transition.

  2014cites this paper
• Identification of STAT5A and STAT5B Target Genes in Human T Cells

  2014cites this paper
• Endospanin 1 silencing in the hypothalamic arcuate nucleus contributes to sustained weight loss of high fat diet obese mice

  2014cites this paper
• Analysis of c.801-2A>G mutation in the DNAJC6 gene in Parkinson's disease in southern Spain.

  2014cites this paper
• Aggressive juvenile polyposis in children with chromosome 10q23 deletion.

  2013cites this paper
• Advances in the genetics of Parkinson disease

  2013cites this paper
• DNAJC6 is responsible for juvenile parkinsonism with phenotypic variability.

  2013cites this paper
• Copy Number Variants in Obesity-Related Syndromes: Review and Perspectives on Novel Molecular Approaches

  2012cites this paper
• Cellular Neuroscience Mini Review Article J Protein Mutations and Resulting Proteostasis Collapse Age-associated Neurodegenerative Disorders Defining a Trajectory to Understand the Function of Specific J Proteins

  year unknowncites this paper