Prader-Willi syndrome and Angelman syndrome: Visualisation of the molecular pathways for two chromosomal disorders

Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features

(2017) Jing Zhang et al.   HUMAN GENETICS

Autism gene Ube3a and seizures impair sociability by repressing VTA Cbln1

(2017) Vaishnav Krishnan et al.   NATURE

Reduced abundance of the E3 ubiquitin ligase E6AP contributes to decreased expression of theINK4/ARFlocus in non–small cell lung cancer

(2017) Cristina Gamell et al.   Science Signaling

Reduced abundance of the E3 ubiquitin ligase E6AP contributes to decreased expression of theINK4/ARFlocus in non–small cell lung cancer

(2017) Cristina Gamell et al.   Science Signaling

Reduced gamma-aminobutyric acid is associated with emotional and behavioral problems in Prader-Willi syndrome

(2016) Lauren J. Rice et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

Loss of Magel2 impairs the development of hypothalamic Anorexigenic circuits

(2016) Julien Maillard et al.   HUMAN MOLECULAR GENETICS

Deficiency in prohormone convertase PC1 impairs prohormone processing in Prader-Willi syndrome

(2016) Lisa C. Burnett et al.   JOURNAL OF CLINICAL INVESTIGATION

GABAergic Neuron-Specific Loss of Ube3a Causes Angelman Syndrome-Like EEG Abnormalities and Enhances Seizure Susceptibility

(2016) Matthew C. Judson et al.   NEURON

DisGeNET: a comprehensive platform integrating information on human disease-associated genes and variants

(2016) Janet Piñero et al.   NUCLEIC ACIDS RESEARCH

UniProt: the universal protein knowledgebase

(2016)   NUCLEIC ACIDS RESEARCH

Rett syndrome – biological pathways leading from MECP2 to disorder phenotypes

(2016) Friederike Ehrhart et al.   Orphanet Journal of Rare Diseases

High unacylated ghrelin levels support the concept of anorexia in infants with prader-willi syndrome

(2016) Veronique Beauloye et al.   Orphanet Journal of Rare Diseases

Beyond Epilepsy and Autism: Disruption of GABRB3 Causes Ocular Hypopigmentation

(2016) Ryan J. Delahanty et al.   Cell Reports

Increased alternate splicing of Htr2c in a mouse model for Prader-Willi syndrome leads disruption of 5HT2C receptor mediated appetite

(2016) Alastair S. Garfield et al.   Molecular Brain

A new pathway in the control of the initiation of puberty: the MKRN3 gene

(2015) A. P. Abreu et al.   JOURNAL OF MOLECULAR ENDOCRINOLOGY

Expression Atlas update—an integrated database of gene and protein expression in humans, animals and plants

(2015) Robert Petryszak et al.   NUCLEIC ACIDS RESEARCH

The Reactome pathway Knowledgebase

(2015) Antonio Fabregat et al.   NUCLEIC ACIDS RESEARCH

Ensembl 2016

(2015) Andrew Yates et al.   NUCLEIC ACIDS RESEARCH

PathVisio 3: An Extendable Pathway Analysis Toolbox

(2015) Martina Kutmon et al.   PLoS Computational Biology

Magel2 Is Required for Leptin-Mediated Depolarization of POMC Neurons in the Hypothalamic Arcuate Nucleus in Mice

(2013) Rebecca E. Mercer et al.   PLoS Genetics

Leptin and insulin pathways in POMC and AgRP neurons that modulate energy balance and glucose homeostasis

(2012) Luis Varela et al.   EMBO REPORTS

The ChEBI reference database and ontology for biologically relevant chemistry: enhancements for 2013

(2012) Janna Hastings et al.   NUCLEIC ACIDS RESEARCH

Annotating Cancer Variants and Anti-Cancer Therapeutics in Reactome

(2012) Marija Milacic et al.   Cancers

A formal MIM specification and tools for the common exchange of MIM diagrams: an XML-Based format, an API, and a validation method

(2011) Augustin Luna et al.   BMC BIOINFORMATICS

Regulation of NKB Pathways and Their Roles in the Control of Kiss1 Neurons in the Arcuate Nucleus of the Male Mouse

(2011) V. M. Navarro et al.   ENDOCRINOLOGY

The BridgeDb framework: standardized access to gene, protein and metabolite identifier mapping services

(2010) Martijn P van Iersel et al.   BMC BIOINFORMATICS

The Angelman Syndrome Protein Ube3A Regulates Synapse Development by Ubiquitinating Arc

(2010) Paul L. Greer et al.   CELL

Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C/D box snoRNA cluster in Prader–Willi syndrome

(2010) Angela L Duker et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Clinical and genetic aspects of Angelman syndrome

(2010) Charles A Williams et al.   GENETICS IN MEDICINE

Brain serotonin system in the coordination of food intake and body weight

(2010) Daniel D. Lam et al.   PHARMACOLOGY BIOCHEMISTRY AND BEHAVIOR

A deletion of the HBII-85 class of small nucleolar RNAs (snoRNAs) is associated with hyperphagia, obesity and hypogonadism

(2009) A. J. de Smith et al.   HUMAN MOLECULAR GENETICS

Hormone and glucose signalling in POMC and AgRP neurons

(2009) Bengt F. Belgardt et al.   JOURNAL OF PHYSIOLOGY-LONDON

Presenting and exploring biological pathways with PathVisio

(2008) Martijn P van Iersel et al.   BMC BIOINFORMATICS

Necdin, a Prader-Willi syndrome candidate gene, regulates gonadotropin-releasing hormone neurons during development

(2008) N. L.G. Miller et al.   HUMAN MOLECULAR GENETICS

Pharmacological targeting of the serotonergic system for the treatment of obesity

(2008) Alastair S. Garfield et al.   JOURNAL OF PHYSIOLOGY-LONDON

WikiPathways: Pathway Editing for the People

(2008) Alexander R Pico et al.   PLOS BIOLOGY