prader willi and angelman syndrome are both examples of

Citation2016)). Whether an individual exhibits PWS or AS depends on if there is a lack of the paternally expressed gene to . Normally,you inherit1 copy of each chromosome pair from your biological mother, AS can Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are genetic imprinting disorders resulting from absent or reduced expression of paternal or maternal genes in chromosome 15q11q13 region, respectively. ProGNRH1 is not converted to GNRH1, resulting in a low level of gonadotropin and consequent hypogonadism. MAGEL2 and NDN have a shared effect. The PWS/AS pathway was constructed using PathVisio software (version 3.2.4) (van Iersel etal. 1). Expression of GABRB3 was found in embryonic stem cells and neural crest stem cells (Delahanty etal. A lack of subunit -3 impairs the function of the GABA(A) receptor, causing problems in rapid inhibitory synaptic transmission in the central nervous system (Homanics etal. The prevalence of PWS is approximately 1:25,000 across multiple populations. Prader-Willi Syndrome (PWS) is a complex multisystem genetic disorder that shows great variability, with changing clinical features during a patient's life. Send a custom card to a child you know or brighten any child's stay with a smile by sending a card. Garfield etal. each parent. Gamell etal. Citation2001). NCI CPTC Antibody Characterization Program, Butler MG. Genomic imprinting disorders in humans: a mini-review. Patients with AS have several consistent features. (Citation2016) stated that loss of MAGEL2 in mice leads to a disruption of hypothalamic feeding circuits in general, which is in line with the results of Varela and Horvath. Dr. SP Shankar is Albert Rowe endowed chair in Genetics II & receives salary and research support. . MKRN3 pathway section. However, there is no evidence of how SNRPN would play a role in any pathway concerning this process. Known molecular interactions can be visualised through graphical biological pathways, which can give an accessible overview of important cellular events that take place. Would you like email updates of new search results? PWS has many associated genes. Management should include a multidisciplinary team by various medical subspecialists and therapists. Albright hereditary osteodystrophy), uniparental chromosome 14 disomy, chromosome 6q24-related transient neonatal diabetes . University of Washington, Seattle; 1993-2017. https://www.ncbi.nlm.nih.gov/books/NBK1116/. Expertise. Citation2016) is a genome browser for vertebrate genomes, which was used to annotate genes and gene products in the genetic pathway, and it provided detailed information about gene transcripts and homologues in other species. 2018. https://www.clinicalkey.com. Angelman syndrome signs and symptoms include: Developmental delays, including no crawling or babbling at 6 to 12 months Intellectual disability No speech or minimal speech Difficulty walking, moving or balancing well Frequent smiling and laughter Happy, excitable personality Sucking or feeding difficulty Trouble going to sleep and staying asleep To conclude, in this study a collection and presentation of currently available knowledge of the molecular interactions and downstream pathways of genes that are involved in PWS and AS is presented. Citation2006). It binds to MSX1, thereby preventing repression of the GNRH1 gene by MSX1. The effect of SNURF is currently unknown, which is indicated with a gap annotation. The conversion of BDNF, oxytocin and GNRH1 is not convincingly confirmed and is therefore indicated with a grey line. In: Zitelli and Davis' Atlas of Pediatric Physical Diagnosis. Citation2000; Swaab Citation2003). sharing sensitive information, make sure youre on a federal Citation1996), very little information on its mechanism of action is available. 2023 University of Rochester Medical CenterRochester, NY, Clinical and Translational Sciences Institute, Monroe County Community Health Improvement Plan, Pediatricians who treat Genetic Related problems in Children, Pediatric Genetics at Golisano Children's Hospital, Genetics Division in the Department of Pediatrics. Citation2013), a database collecting information on small chemical compounds, was used. Citation2017) (Figure 6). This region contains several genes, depicted in Figure 1 (Driscoll etal. and transmitted securely. Angelman syndrome (Figure 1) is a disorder of the nervous system characterized by developmental disabilities, seizures, speech deficits, and motor oddities. This technology identifies over 99% of PWS cases and 78% of AS cases. DNA-based methylation testing detects the absence of the paternally contributed Prader-Willi syndrome (PWS) region on chromosome 15q11.2-q13. They may have seizures and often have inappropriate outbursts of laughter. People with Angelman syndrome (AS) have an unusual facial appearance, short stature,severe intellectual disability with a lack of speech, stiff arm movements, and a spastic, uncoordinated walk. This is probably also a reason why there is extensive information available on hyperphagia. Always follow your healthcare professional's instructions. People with PWS have short stature, small hands and feet, and School of Medicine: Tulane Resident and Fellow Congress (TRFC), Employee's COVID-19 Information & Guidelines. As mentioned above, in the majority of patients PWS and AS are both caused by a deletion of the same region on chromosome 15: 15q11.2-q13 (Driscoll etal. As GABRB3 encodes a subunit of the GABA(A) receptor, and stimulates transcription of two other subunits (GABRA5 and GABRG3), loss of it will interfere with the function of this receptor. Besides, PWS patients also suffer from various complications including hypogonadism and infertility, growth hormone (GH) deficiency, delayed puberty, disturbance in circadian rhythm, hypopigmentation, osteoporosis, mild cognitive impairment, delay in motor and language development, and several characteristic behaviour types, facial features, and body habitus (Cassidy and Schwartz Citation1998). Unmet clinical needs and burden in Angelman syndrome: A review of the literature. doi: 10.1542/peds.108.5.e92. BridgeDb for Homo sapiens genes and gene products (version Ensembl_85) was used to map the gene identifiers from one database to others (van Iersel etal. In PC12 cells (rat pheochromocytoma cells), NDN enhances neurite outgrowth after stimulation by nerve growth factor (Tcherpakov etal. These symptoms are most likely caused by defects in the hypothalamus, but how they emerge remains unclear (Cassidy and Schwartz Citation1998; Myers etal. They generally do not show hyperphagia, their overall health is good (Cassidy and Schwartz Citation1998), puberty is usually unaffected and fertility is possible, in contrast to PWS (Dagli etal. General information on PWS and AS, the involved genes and their molecular interactions was obtained through literature research using PubMed. A key feature of Prader-Willi syndrome is a constant sense of hunger that usually begins at about 2 years of age. p53 is inhibited by a factor called MDM4, which might play a role in the inhibition of p53. In the absence of SNORD115 complex, more alternate splicing and adenosine-to-inosine RNA editing takes place, resulting in the production of more truncated splice variants and thus more dysfunctional receptors. Clinical and cytogenetic survey of 39 individuals with Prader-Labhart-Willi syndrome. Mayo Clinic; 2019. Citation2009). Additionally, literature references for these interactions were added in the annotations. This pathway shows for the first time that several of the symptoms may have their molecular origin in more than one gene (cluster) and reveals gaps of knowledge which should be closed in future research. Babies born with PWS have poor muscle tone and a weak cry. UBE3A encodes an ubiquitin-protein ligase, which is involved i.a. Blood. and dysregulation in the hypothalamus. FEZ1 is involved in downstream effects on neurons. Researchers usually don't know what causes the genetic changes that result in Angelman syndrome. Citation2016). a x . SNORD116@ is found to be sufficient to elicit hypotonia in neonates, as well as developmental delay in a later stage, but the mechanism of action has yet to be found. Seizures may begin between the ages of 2 and 3 years old. The genes in the PWS region are only expressed on the paternally derived chromosome, whereas the genes in the AS region are only expressed on the maternally derived chromosome. What is AS: Diagnosis. Microdeletion syndromes (chromosomes 12 to 22). Neurons expressing neuropeptide Y (NPY) and agouti-related peptide (AgRP), as well as neurons expressing POMC are located there. Schematic representation of the effects of impaired hormone processing. Prader-Willi syndrome = maternal imprinting or maternal UPD Angelman syndrome = paternal imprinting or paternal UPD Both conditions are on chromosome 15 but are not reciprocal imprints/UPDs of the same gene. In this way, the reduced volume of the PVN, and the reduced activation of and secretion by POMC neurons, might have a relation. The overeating often results in rapid weight gain,obesity, and type 2 diabetes. Imprinted genes can be organized in clusters as exemplified by the 2-Mb domain on human chromosome 15q11-q13 and its mouse orthologue on chromosome 7c (ref. 2000-2023 The StayWell Company, LLC. -, OKeefe C, McDevitt MA, Maciejewski JP. They also exhibit sleep abnormalities and hypopigmentation (Cassidy and Schwartz Citation1998). one example is using MLPA where the overall sensitivity is greater than . The PubMed wordmark and PubMed logo are registered trademarks of the U.S. Department of Health and Human Services (HHS). In a few cases, Angelman syndrome is caused when two paternal copies of the gene are inherited, instead of one from each parent. The lack of NDN activity might be a major cause in this, but this cannot be confirmed by the current literature. If you're concerned about a family history of Angelman syndrome or if you already have a child with the disorder, consider talking to your doctor or a genetic counselor for help planning future pregnancies. The molecular subtype of PWS/AS provides more accurate recurrence risk information for parents and for the individual affected with the condition. Loss of this 2-Mb domain on the paternal or maternal allele results in two neurogenetic disorders, Prader-Wile syndrome (PWS) or Angelman syndrome (AS), respectively. parent, instead of1 copy coming from the mother, and1 copy coming from the father. Citation2010). This could be another explanation for hyperphagia. Epigenetics. intellectual disability with a lack of speech, stiff arm movements, and a spastic, The site is secure. Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are genetic conditions that result from a decrease or lack of expression of inherited material from the father or mother on chromosome 15, respectively. https://www.angelman.org/what-is-as/diagnosis/. There are three breakpoints indicated; in PWS and AS, the chromosome section is deleted from either breakpoint 1 or 2, up to breakpoint 3. Citation2005). Assume the regioselectivity is consistent with the Zaitsev rule. A lack of GHRH, and consequently low GH levels, might be responsible for the short stature seen in PWS patients, and finally a low insulin level could cause type 2 diabetic features. Although the exact mechanism remains unclear, the volume of the oxytocin-secreting paraventricular nucleus cells was severely reduced, suggesting that the problem might lie there (Swaab Citation2003). Both chromosome 15 deletions and UPD most often occur as de novo events during conception, and, thus, recurrence risk to siblings is very low. Angelman Syndrome (AS)is characterized by: 1) severe developmental delay or mental retardation; 2) severe speech impairment; 3) gait ataxia and/or tremulousness of the limbs; and 4) a unique behavior with an inappropriate happy demeanor that includes frequent laughing, smiling, and excitability. A family history of the disease may increase a baby's risk of developing Angelman syndrome. Furthermore, the FEZ1 orthologue UNC-76 in Drosophila melanogaster interacts with the molecular motor kinesin, which is essential for axonal transport (Kuroda etal. Zitelli BJ, et al. Citation2010). This process employs an initial bisulfite reaction to modify the DNA, followed by PCR amplification with specific primers designed to distinguish methylated from unmethylated DNA. The hypothalamus, and in particular the paraventricular nucleus, arcuate nucleus and the medial preoptic area, would be an interesting starting point for further investigation on the effect of MAGEL2 and NDN on hyperphagia and psychiatric and behavioural problems in PWS. Both occur in approximately one in 10,00015,000 individuals (Cassidy and Schwartz Citation1998). Figure 6. can be caused by uniparental disomy. Figure 5. Hyperphagia is also believed to originate from a defect in the hypothalamus. Results: A pathway visualisation was created and uploaded to the open pathway database WikiPathways covering all molecular pathways that were found. Keywords: We use cookies to improve your website experience. Figure 9. Citation2005). The MIM interactions give information about whether a molecular interaction is a stimulation, conversion, inhibition, catalysis or others. Chromosome 15 imprinting disorders, comprising Angelman syndrome (AS), Prader-Willi syndrome (PWS), and chromosome 15 duplication syndrome (Dup15q), are caused by deletions, duplications, or epimutations at the same imprinted region located at chromosome 15q11-q13. These cells are known to give rise to various cells, including melanocytes. They initially are slow feeders and appear undernourished. HHS Vulnerability Disclosure, Help Prader-Willi syndrome (PWS), on the other hand, can result when a baby inherits both copies of a section of chromosome #15 from the mother. All patients have some degree of cognitive impairment; a distinctive behavioral phenotype is common. The feeding problems improve after infancy. Citation2008). Absence of SNORD115@ would cause more alternate splicing and adenosine-to-inosine RNA editing, resulting in truncated and dysfunctional receptors (Canton etal. Nicholls RD, Knoll JH, Butler MG, Karam S, Lalande M. Nature. 2016; doi:10.1038/nrneurol.2016.133. Two other genes, that are described to be relevant in both PWS and AS, are GABRB3 and OCA2 (Delahanty etal. copies of a section of chromosome #15 from the mother. MAGEL2 alone is also found to influence leptin-mediated depolarisation of POMC neurons and the development of hypothalamic anorexigenic circuits. Prader-Willi Syndrome (PWS)is characterized by severe hypotonia and feeding difficulties in early infancy, followed in later infancy or early childhood by excessive eating and gradual development of morbid obesity, unless externally controlled. 2009;26(910):477486. (Citation2017) found that the expression of several tumour-suppressor genes was decreased in UBE3A-deficient mouse fibroblasts. Angelman syndrome information page. The first signs of Angelman syndrome are usually developmental delays, such as lack of crawling or babbling, between 6 and 12 months. ARF stimulates expression of p53, which can in turn cause apoptosis and G2/M arrest. Many PWS features are connected to a decrease of a certain hormone level. It is known that disturbance of the central serotonin system, specifically a reduction in serotonin availability or efficacy, can cause hyperphagia (Garfield and Heisler Citation2009). There also remained some gaps in the pathways, which were indicated with a dashed line, in combination with a basic interaction arrow or a MIM gap. Citation2016). As with Angelman syndrome, PWS can also occur even if chromosome #15 is inherited normally. Ensembl (Yates etal. People with Angelman syndrome (AS) have an unusual facial appearance, short stature,severe intellectual disability with a lack of speech, stiff arm movements, and a spastic, uncoordinated walk. What is Angelman syndrome? Prader-Willi syndrome and Angelman syndrome pathway. Citation2016). Prader-Willi syndrome and/or Angelman syndrome), methylation analysis. Citation2017) and OMIM (Hamosh Citation19852017) provided collections of human disorders and phenotypes with their associated genes and variants. The dashed lines indicate that the exact mechanism is not clear; there might be more steps involved. OCA2 encodes the P-protein, which is known to be important in the production of melanin (Delahanty etal. It is capable of stimulating POMC neurons, but Varela and Horvath (Citation2012) found that the leptin-mediated depolarisation of POMC neurons is disturbed when MAGEL2 is lost, meaning that food intake is being less repressed. Citation2017). MAGEL2/NDN pathway section. If MAGEL2 and NDN are lost, most of the problems that arise involve the development of neurons (Figure 4). c) Down syndrome . It is plausible that this mechanism also plays a role in the development of these disorders in humans. The completed pathway was labelled for species Homo sapiens and uploaded to WikiPathways using the WikiPathways plugin of PathVisio, and is now openly available http://www.wikipathways.org/instance/WP3998 (Pico etal. Recent findings. Angelman syndrome signs and symptoms include: People who have Angelman syndrome may also show the following features: Most babies with Angelman syndrome don't show signs or symptoms at birth. Medical Director, Infection Prevention and Clinical Epidemiology People with Angelman syndrome (AS) have an unusual facial appearance, short stature, severe intellectual disability with a lack of speech, stiff arm movements, and a spastic, uncoordinated walk. For annotation of gene clusters (e.g., SNORD116@) Entrez Gene identifiers were used. The most common etiology is deletion of the maternal or paternal 15q11q13 region. GABRB3 stimulates the expression of GABRA5 and GABRG3. Mayo Clinic does not endorse companies or products. The arcuate nucleus of the hypothalamus is a major site for leptin action (Mercer etal. #15 from the father (rather than1 from the mother and1 from the father). MAGEL2, SNORD116@ and SNORD115@ are all thought to contribute to hyperphagia via different pathways: hormones (ghrelin, leptin, insulin, etc.) What is maternal vs paternal imprinting? SNURF and SNRPN are transcript products of the same bicistronic gene. Due to methylation patterns, different genes are responsible for the two distinct phenotypes resulting in the disorders. Upon binding to E2F1, UBE3A is able to stimulate transcription of the INK4/ARF locus via CDC6. Genes located in the imprinted regions that related to PWS and AS and the non-imprinted regions are shown here. Angelman syndrome (AS) was first reported by Dr. Harry Angelman in 1965 (Angelman 1965) and characterized by severe intellectual disability, ataxia, jerky arm movements, absent or very limited speech, inappropriate laughter, and a particular facial appearance. The syndrome is due to the loss of expression of several genes encoded on the proximal long arm of chromosome 15 (15q11.2-q13). Draw a Newman projection for the conformation adopted by 2-bromo-2,4,4- trimethylpentane in a reaction proceeding by the E2 mechanism. Determine whether each process is exothermic or endothermic. Angelman and Prader-Willi syndromes are both considered rare disorders, with prevalence estimates ranging from 1 in 12,000 to 1 in 20,000 births for Angelman syndrome and 1 in 10,000 to 1 in 30,000 births for Prader-Willi syndrome. Angelman syndrome (AS) and Prader-Willi syndrome (PWS)are examples of disorders that can be caused by uniparental disomy. This was found to cause several disorders in mice, including epilepsy, cleft palate and hyperactive behaviour. Citation2010). GABRB3 therefore appears to play a role in the hypopigmentation that is seen in PWS as well as AS. chromosome 15; developmental delay; hyperphagia; imprinting disorders; obesity; uniparental disomy. Many of them are rare diseases, meaning that they occur in less than 1,500 (USA), 2,000 (EU) or 2,500 (Japan) individuals. doi:10.1002/ajmg.1320280407 This section of the chromosome is "imprinted," and the genes . Diagram of maternal (MAT; top) and paternal (PAT; bottom) regions of human chromosome 15q11-q13. On top of that, patients with AS exhibit gait ataxia, tremulousness of the limbs, hypertonia and seizures. This can have many consequences, as we have discussed in previous paragraphs. Please enable it to take advantage of the complete set of features! People with Angelman syndrome (AS) have an intellectual disability, severe speech problems, stiff arm movements, and a stiff, uncoordinated walk. Decreased expression of GABRA5 and GABRG3 also interferes with normal GABA(A) receptor functioning. Uncontrolled accumulation of ARC results in increased internalisation of the GABA receptor and impairs normal synapsis function. Developmental and behavioral management of PWS and AS in infancy and early childhood includes early intervention services and individualized education programs for school-aged children. This is an open access article distributed under the terms of the Creative Commons CC BY license, which permits unrestricted use, distribution, reproduction in any medium, provided the original work is properly cited. and type 2 diabetes. Angelman syndrome is a genetic disorder. Recommended articles lists articles that we recommend and is powered by our AI driven recommendation engine. With the information that is now known about MKRN3, there is no explanation that can be given for this result. Methylation is the first line for molecular diagnostic . This deletion of a section of the maternally inherited chromosome is the most common cause of AS. In another mouse study, NDN was found to be able to upregulate GNRH1 transcription (Miller etal. The https:// ensures that you are connecting to the The key difference between Prader Willi and Angelman syndrome is that Prader Willi syndrome is caused by the loss of function of paternally expressed genes in a region of chromosome 15 due to a deletion or uniparental disomy while Angelman syndrome is caused by the loss of function of maternally expressed genes in a region of chromosome 15 due to a deletion or uniparental disomy. This promotes the production of full-length 5HT2C-receptors. Angelman syndrome can result when a baby inherits both copies of a section of chromosome #15 from the father (rather than1 from the mother and1 from the father). It is involved in controlling the onset of puberty (Abreu etal. http://ghr.nlm.nih.gov/condition/angelman-syndrome. (Citation2016) showed that SNORD115@ is involved in the processing of pre-RNA of this receptor. Disclaimer. 3099067 Both disorders can result from microdeletion, uniparental disomy, or an . Figure 2. The offspring could be at risk of being born with PWS or with Angelman syndrome. Typically, between 2 to 4 years of age, the child becomes obsessed with food and is unable to control their appetite. Citation2017). (Citation2017). For metabolites, ChEBI (Hastings etal. Figure 8. In: GeneReviews. -, Magenis RE, Brown MG, Lacy DA, Budden S, LaFranchi S. Is Angelman syndrome an alternate result of del(15)(q11q13)? Prader-Willi (PWS) and Angelman syndrome (AS) are distinct neurogenetic disorders caused by chromosomal deletions, uniparental disomy or loss of the imprinted gene expression in the 15q11-q13 region. Accessed Nov. 18, 2019. People with Angelman syndrome (AS) have an unusual facial appearance, short stature, severe intellectual disability with a lack of speech, stiff arm movements, and a spastic, uncoordinated walk. The exact manner in which this happens is currently unknown. Proteosomal degradation of the FEZ1/2 complex is prevented by MAGEL2 and NDN binding to it. Citation2015). Allscripts EPSi. Angelman syndrome (AS) and Prader-Willi syndrome (PWS)are examples of disorders that Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are clinically distinct complex disorders mapped to chromosome 15q11-q13. National Library of Medicine They both have characteristic neurologic, developmental, and behavioral phenotypes plus other structural and functional abnormalities. On top of that they also often exhibit mild cognitive impairment and a delay in motor and language development. GABRB3 is the main actor here, as it stimulates the transcription of GABRA5, GABRG3 and OCA2 (Delahanty etal. 2015 Dec;38(12):1249-63. doi: 10.1007/s40618-015-0312-9. Citation2010). Citation2016). Citation1997). genomic imprinting affects both female and male offspring. Prader-Willi (PRAH-dur VIL-e) syndrome is a rare genetic disorder that results in a number of physical, mental and behavioral problems. In PWS patients, however, pubic and axillary hair may develop early or normally, but the other features of puberty occur late and incomplete or not at all (Cassidy and Schwartz Citation1998). Expression of OCA2 is also stimulated by GABRB3. 4 Early diagnosis is best because it enables affected individuals to begin early intervention/special needs programs and treatment specifically for Prader-Willi symptoms. Studies on Ndntm2Stw mice showed that FEZ1 stimulates neurite and axonal outgrowth. UniProt, a protein database (The UniProt Consortium Citation2017), provides functional information about proteins and information to determine differences between, e.g., prohormones and active hormones. Citation2012; Fabregat etal. 5HT2C receptors play the most important role in the anorectic action of serotonin (Lam etal. People with Angelman syndrome (AS) have an unusual facial appearance, short stature, severe intellectual disability with a lack of speech, stiff arm movements, and a spastic, uncoordinated walk. The approach begins with methylation-sensitive MLPA (MS-MLPA) to determine the methylation status and copy number of the 15q11-q13 region (step 1). The ultimate result of UBE3A action here is the inhibition of E2F1 expression, and thus G1/S progression. Neonates have slight hypotonia and problems with feeding, though less severe than in PWS (Cassidy and Schwartz Citation1998). In a normal situation, SNORD116@ and NHLH2 stimulate PCSK1 expression. Citation1999). However, there remains missing knowledge that should be filled by future research. Uniparental disomy refers to the situation in which2 copies of a chromosome come from the same parent, instead of1 copy coming from the mother, and1 copy coming from the father. Figure 1. Unable to load your collection due to an error, Unable to load your delegates due to an error. Citation2017). The function of ATP10A is not yet understood (Driscoll etal. Jensen NA. https://www.ninds.nih.gov/Disorders/All-Disorders/Angelman-Syndrome-Information-Page. Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are genetic imprinting disorders resulting from absent or reduced expression of paternal or maternal genes in chromosome 15q11q13 region, respectively. Angelman syndrome (AS) and Prader-Willi syndrome (PWS) are examples of disorders that can be caused by uniparental disomy. In approximately 2 to 4% of patients, this loss of function is the result of an imprinting defect. SNORD115@ binds to a specific sequence in exon Va of the HTR2C pre-RNA. AS can also occur even when chromosome #15 is inherited normally1 chromosome coming from each parent. This is beneficial for the field of rare genetic disorders as little is known of many causative genes, and molecular interaction information about their normal function is the first step to understand which (disturbed) metabolic or signalling pathways lead to the disorder phenotype. 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