PWS Research Publications

This page shares news of PWS research publications that have resulted from FPWR-supported initiatives and grants.

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Ghrelin Receptor Agonist Rescues Excess Neonatal Mortality in a Prader-Willi Syndrome Mouse Model

Published Year: 2019

Author: Rodriguez JA, Bruggeman EC, Mani BK, Osborne-Lawrence S, Lord CC, Roseman HF, Viroslav HL, Vijayaraghavan P, Metzger NP, Gupta D, Shankar K, Pietra C, Liu C, Zigman JM

Journal: Endocrinology Go To Journal

Wired for eating: how is an active feeding circuitry established in the postnatal brain?

Published Year: 2019

Author: Muscatelli F, Bouret SGC

Journal: Current Opinion in Neurobiology Go To Journal

Magel2 Modulates Bone Remodeling and Mass in Prader-Willi Syndrome by Affecting Oleoyl Serine Levels and Activity

Published Year: 2019

Author: Baraghithy S, Smoum R, Drori A, Hadar R, Gammal A, Hirsch S, Attar-Namdar M, Nemirovski A, Gabet Y, Langer Y, Pollak Y, Schaaf CP, Rech ME, Gross-Tsur V, Bab I, Mechoulam R, Tam J

Journal: Journal of Bone Mineral Research Go To Journal

Dietary intake in youth with prader-willi syndrome

Published Year: 2019

Author: Mackenzie ML, Triador L, Gill JK, Pakseresht M, Mager D, Field CJ, Haqq AM

Journal: American Journal of Medical Genetics: Part A Go To Journal

Caregiver priorities for endpoints to evaluate treatments for Prader-Willi syndrome: a best-worst scaling

Published Year: 2019

Author: Tsai JH, Scheimann AO, McCandless SE, Strong TV, Bridges JFP

Journal: Journal of Medical Economics Go To Journal

The PRETEND Program: Evaluating the Feasibility of a Remote Parent-Training Intervention for Children With Prader-Willi Syndrome

Published Year: 2019

Author: Zyga O, Russ SW, Dimitropoulos A

Journal: American Journal on Intellectual and Developmental Disabilities Go To Journal

Schaaf-Yang syndrome overview: Report of 78 individuals

Published Year: 2019

Author: McCarthy J, Lupo PJ, Kovar E, Rech M, Bostwick B, Scott D, Kraft K, Roscioli T, Charrow J, Schrier Vergano SA, Lose E, Smiegel R, Lacassie Y, Schaaf CP

Journal: American Journal of Medical Genetics Go To Journal

Sex and gender differences in developmental programming of metabolism

Published Year: 2019

Author: Dearden L, Bouret SG, Ozanne SE

Journal: Molecular Metabolism Go To Journal

Functional group and stereochemical requirements for substrate binding by ghrelin O-acyltransferase revealed by unnatural amino acid incorporation

Published Year: 2019

Author: Cleverdon ER, Davis TR, Hougland JL

Journal: Bioorganic Chemistry Go To Journal

Prader-Willi locus Snord116 RNA processing requires an active endogenous allele and neuron-specific splicing by Rbfox3/NeuN

Published Year: 2019

Author: Coulson RL, Powell WT, Yasui DH, Dileep G, Resnick J and LaSalle J

Journal: Human Molecular Genetics Go To Journal

Exploring autism symptoms in an Australian cohort of patients with Prader-Willi and Angelman syndromes

Published Year: 2019

Author: Baker EK, Godler D, Bui M, Hickerton C, Rogers C, Field M, Amor D, Bretheton B

Journal: Journal of Neurodevelopmental Disorders Go To Journal

The posterior pituitary expresses the serotonin receptor 2C

Published Year: 2019

Author: Welden JR, Zhang Z, Duncan MJ, Falaleeva M, Wells T, Stamm S

Journal: Neuroscience Letters Go To Journal

Hormonal and metabolic effects of carbohydrate restriction in children with Prader Willi syndrome

Published Year: 2019

Author: Irizarry KA, Mager DR, Triador L, Muehlbauer MJ, Haqq AM, Freemark M

Journal: Clinical Endocrinology (Oxford) Go To Journal

Genomic imprinting and the control of sleep in mammals

Published Year: 2019

Author: Lassi G, Tucci V

Journal: Current Opinions in Behavioral Science Go To Journal

Imprinted small noncoding RNA genes in brain function and behavior

Published Year: 2019

Author: Marty V, Cavaillé J

Journal: Current Opinion in Behavioral Sciences Go To Journal

Developing a Task Switching Training Game for Children With a Rare Genetic Syndrome Linked to Intellectual Disability

Published Year: 2019

Author: Robb N, Waller A, Woodcock KA

Journal: Simulation & Gaming Go To Journal

Regulation of Energy Expenditure by Brainstem GABA Neurons

Published Year: 2019

Author: Schneeberger M, Parolari L, Das Banerjee T, Bhave V, Wang P, Patel B, Topilko T, Wu Z, Choi CHJ, Yu X, Pellegrino K, Engel EA, Cohen P, Renier N, Friedman JM, Nectow AR

Journal: Cell Go To Journal

Potential of Epigenetic Therapy for Prader-Willi Syndrome

Published Year: 2019

Author: Wang SE, Jiang YH

Journal: Trends in Pharmacological Sciences Go To Journal

A randomized pilot efficacy and safety trial of diazoxide choline controlled-release in patients with Prader-Willi syndrome

Published Year: 2019

Author: Virginia Kimonis, Abhilasha Surampalli, Marie Wencel, June-Anne Gold, Neil M. Cowen

Journal: PLOS ONE Go To Journal

Epigenetics of Circadian Rhythms in Imprinted Neurodevelopmental Disorders

Published Year: 2018

Author: Coulson RL, LaSalle J

Journal: Prog Molec Biol Translat Sci 2018 https://doi.org/10.1016/bs.pmbts.2017.11.023 Go To Journal

A Transcriptomic Signature of the Hypothalamic Response to Fasting and BDNF Deficiency in Prader-Willi Syndrome

Published Year: 2018

Author: 1. Bochukova EG, Lawler K, Croizier S, Keogh JM, Patel N, Strohbehn G, Lo KK, Humphrey J, Hokken-Koelega A, Damen L, Donze S, Bouret SG, Plagnol V, Farooqi IS

Journal: Cell Rep. 2018 Mar 27;22(13):3401-3408. doi: 10.1016/j.celrep.2018.03.018 Go To Journal

Mechanistic insights into the genetics of affective psychosis from Prader-Willi syndrome

Published Year: 2018

Author: Aman LCS, Manning KE, Whittington JE, Holland AJ.

Journal: Lancet Psychiatry. 2018 Apr;5(4):370-378. doi: 10.1016/S2215-0366(18)30009-9. Epub 2018 Jan 16. Go To Journal

Chronic diazoxide treatment decreases fat mass and improves endurance capacity in an obese mouse model of Prader-Willi syndrome

Published Year: 2018

Author: Bischof JM, Wevrick R.

Journal: Mol Genet Metab. 2018 Apr;123(4):511-517. doi: 10.1016/j.ymgme.2018.02.018. Epub 2018 Feb 27. Go To Journal

High levels of caregiver burden in Prader-Willi syndrome

Published Year: 2018

Author: Kayadjanian N, Schwartz L, Farrar E, Comtois KA, Strong TV.

Journal: PLoS One. 2018 Mar 26;13(3):e0194655. doi: 10.1371/journal.pone.0194655. eCollection 2018. Go To Journal

Neuronal differentiation induces SNORD115 expression and is accompanied by post-transcriptional changes of serotonin receptor 2c mRNA

Published Year: 2018

Author: Bratkovič T, Modic M, Camargo Ortega G, Drukker M, Rogelj B.

Journal: Sci Rep. 2018 Mar 23;8(1):5101. doi: 10.1038/s41598-018-23293-7. Go To Journal

Hormonal, metabolic and skeletal phenotype of Schaaf-Yang syndrome: a comparison to Prader-Willi syndrome

Published Year: 2018

Author: 6. McCarthy JM, McCann-Crosby BM, Rech ME, Yin J, Chen CA, Ali MA, Nguyen HN, Miller JL, Schaaf CP.

Journal: J Med Genet. 2018 Mar 1. pii: jmedgenet-2017-105024. doi: 10.1136/jmedgenet-2017-105024. [Epub ahead of print] Go To Journal

Hypothalamic loss of Snord116 recapitulates the hyperphagia of Prader-Willi syndrome

Published Year: 2018

Author: 5. Polex-Wolf J, Lam BY, Larder R, Tadross J, Rimmington D, Bosch F, Cenzano VJ, Ayuso E, Ma MK, Rainbow K, Coll AP, O'Rahilly S, Yeo GS.

Journal: J Clin Invest. 2018 Mar 1;128(3):960-969. doi: 10.1172/JCI97007. Epub 2018 Jan 29. Go To Journal

Zinc finger protein 274 regulates imprinted expression of transcripts in Prader-Willi syndrome neurons

Published Year: 2017

Author: Langouët M, Glatt-Deeley HR, Chung MS, Dupont-Thibert CM, Mathieux E, Banda EC, Stoddard CE, Crandall L, Lalande M

Journal: Hum Mol Genet. 2017 Dec 7. doi: 10.1093/hmg/ddx420. [Epub ahead of print] Go To Journal

Phylogenetic Analysis of the SNORD116 Locus

Published Year: 2017

Author: Deborah J. Good and Matthew A. Kocher

Journal: Genes 2017, 8(12), 358; doi:10.3390/genes8120358 Go To Journal

Loss of the imprinted, non-coding Snord116 gene cluster in the interval deleted in the Prader Willi syndrome results in murine neuronal and endocrine pancreatic developmental phenotypes

Published Year: 2017

Author: Burnett LC, Hubner G, LeDuc C, Morabito MV Carli JFM, Leibel RL

Journal: Hum Mol Genet. 2017 Sep 6. doi: 10.1093/hmg/ddx342. [Epub ahead of print] Go To Journal

Dental pulp stem cells for the study of neurogenetic disorders

Published Year: 2017

Author: Victor AK, Reiter LT

Journal: Hum Mol Genet. 2017 Oct 1;26(R2):R166-R171. doi: 10.1093/hmg/ddx208. Go To Journal

Microstructural white matter tract alteration in Prader-Willi syndrome: A diffusion tensor imaging study

Published Year: 2017

Author: Rice LJ, Lagopoulos J, Brammer M, Einfeld SL

Journal: Am J Med Genet C Semin Med Genet. 2017 Sep;175(3):362-367. doi: 10.1002/ajmg.c.31572. Epub 2017 Aug 23. Go To Journal

Aberrant White Matter Microstructure in Children and Adolescents With the Subtype of Prader-Willi Syndrome at High Risk for Psychosis

Published Year: 2017

Author: Lukoshe A, van den Bosch GE, van der Lugt A, Kushner SA, Hokken-Koelega AC, White T

Journal: Schizophr Bull. 2017 Sep 1;43(5):1090-1099. doi: 10.1093/schbul/sbx052. Go To Journal

PREPL deficiency: delineation of the phenotype and development of a functional blood assay

Published Year: 2017

Author: Régal L, Mårtensson E, Maystadt I, Voermans N, Lederer D, Burlina A, Juan Fita MJ, Hoogeboom AJM, Olsson Engman M, Hollemans T, Schouten M, Meulemans S, Jonson T, François I, Gil Ortega D, Kamsteeg EJ, Creemers JWM.

Journal: Genet Med. 2017 Jul 20. doi: 10.1038/gim.2017.74. [Epub ahead of print] Go To Journal

Cataplexy and Its Mimics: Clinical Recognition and Management

Published Year: 2017

Author: Pillen S, Pizza F, Dhondt K, Scammell TE, Overeem S

Journal: Curr Treat Options Neurol. 2017 Jun;19(6):23. doi: 10.1007/s11940-017-0459-0. Go To Journal

C/D-box snoRNAs form methylating and non-methylating ribonucleoprotein complexes: Old dogs show new tricks

Published Year: 2017

Author: Falaleeva M, Welden JR, Duncan MJ, Stamm S

Journal: Bioessays. 2017 Jun;39(6). doi: 10.1002/bies.201600264. Epub 2017 May 15. Go To Journal

The activity of the serotonin receptor 2C is regulated by alternative splicing

Published Year: 2017

Author: Stamm S, Gruber SB, Rabchevsky AG, Emeson RB

Journal: Hum Genet. 2017 Jun 29. doi: 10.1007/s00439-017-1826-3. [Epub ahead of print] Go To Journal

Cellular and disease functions of the Prader-Willi Syndrome gene MAGEL2

Published Year: 2017

Author: Tacer KF, Potts PR

Journal: Biochem J. 2017 Jun 16;474(13):2177-2190. doi: 10.1042/BCJ20160616. Go To Journal

Autism spectrum disorder: neuropathology and animal models

Published Year: 2017

Author: Varghese M, Keshav N, Jacot-Descombes S, Warda T, Wicinski B, Dickstein DL, Harony-Nicolas H, De Rubeis S, Drapeau E, Buxbaum JD1, Hof PR

Journal: Acta Neuropathol. 2017 Jun 5. doi: 10.1007/s00401-017-1736-4. [Epub ahead of print] Go To Journal

A Comprehensive Guide to the MAGE Family of Ubiquitin Ligases

Published Year: 2017

Author: Lee AK, Potts PR

Journal: J Mol Biol. 2017 Apr 21;429(8):1114-1142. doi: 10.1016/j.jmb.2017.03.005. Epub 2017 Mar 11. Go To Journal

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

Published Year: 2017

Author: 1. Burnett LC, LeDuc CA, Sulsona CR, Paull D, Rausch R, Eddiry S, Carli JF, Morabito MV, Skowronski AA, Hubner G, Zimmer M, Wang L, Day R, Levy B, Fennoy I, Dubern B, Poitou C, Clement K, Butler MG, Rosenbaum M, Salles JP, Tauber M, Driscoll DJ, Egli D, Leibel RL

Journal: J Clin Invest. 2017 Jan 3;127(1):293-305. doi: 10.1172/JCI88648. Epub 2016 Dec 12. Go To Journal

Determination of the half-life of circulating leptin in the mouse

Published Year: 2017

Author: Burnett LC, Skowronski AA, Rausch R, LeDuc CA, Leibel RL

Journal: Int J Obes (Lond). 2017 Mar;41(3):355-359. doi: 10.1038/ijo.2016.238. Epub 2016 Dec 27. Go To Journal

Altered functional resting-state hypothalamic connectivity and abnormal pituitary morphology in children with Prader-Willi syndrome

Published Year: 2017

Author: Lukoshe A, van Dijk SE, van den Bosch GE, van der Lugt A, White T, Hokken-Koelega AC

Journal: J Neurodev Disord. 2017 Feb 21;9:12. doi: 10.1186/s11689-017-9188-7. eCollection 2017. Go To Journal

PC1/3 Deficiency Impacts Pro-opiomelanocortin Processing in Human Embryonic Stem Cell-Derived Hypothalamic Neurons

Published Year: 2017

Author: Liheng Wang, Lina Sui, Sunil K. Panigrahi, Kana Meece, Yurong Xin, Jinrang Kim, Jesper Gromada, Claudia A. Doege, Sharon L. Wardlaw, Dieter Egli, and Rudolph L. Leibel

Journal: Stem Cell Reports. 2017 Feb 14; 8(2): 264–277 Go To Journal

Culturing and Neuronal Differentiation of Human Dental Pulp Stem Cells

Published Year: 2017

Author: Goorha S, Reiter LT1

Journal: Curr Protoc Hum Genet. 2017 Jan 11;92:21.6.1-21.6.10. doi: 10.1002/cphg.28. Go To Journal

Targeting the histone methyltransferase G9a activates imprinted genes and improves survival of a mouse model of Prader–Willi syndrome

Published Year: 2016

Author: Kim Y, Lee HM, Xiong Y, Sciaky N, Hulbert SW, Cao X, Everitt JI, Jin J, Roth BL, Jiang YH

Journal: Nat Med. 2016 Dec 26. doi: 10.1038/nm.4257. [Epub ahead of print] Go To Journal

Dysfunctional oleoylethanolamide signaling in a mouse model of Prader-Willi syndrome

Published Year: 2016

Author: Igarashi M, Narayanaswami V, Kimonis V, Galassetti PM, Oveisi F, Jung KM, Piomelli D

Journal: Pharmacol Res. 2016 Dec 19;117:75-81. doi: 10.1016/j.phrs.2016.12.024. [Epub ahead of print] Go To Journal

Paradoxical Leanness in the Imprinting Centre Deletion Mouse Model for Prader-Willi Syndrome

Published Year: 2016

Author: Golding DM, Rees DJ, Davies JR, Relkovic D, Furby HV, Guschina IA, Hopkins AL, Davies JS, Resnick JL, Isles AR, Wells T

Journal: J Endocrinol. 2016 Oct 31. pii: JOE-16-0367 Go To Journal

Induced pluripotent stem cells (iPSC) created from skin fibroblasts of patients with Prader-Willi syndrome (PWS) retain the molecular signature of PWS

Published Year: 2016

Author: Burnett LC, LeDuc CA, Sulsona CR, Paull D, Eddiry S, Levy B, Salles JP, Tauber M, Driscoll DJ, Egli D, Leibel RL

Journal: Stem Cell Res. 2016 Aug 16;17(3):526-530. doi: 10.1016/j.scr.2016.08.008. [Epub ahead of print] Go To Journal

Targeting the endocannabinoid/CB1 receptor system for treating obesity in Prader-Willi syndrome

Published Year: 2016

Author: Knani I, Earley BJ, Udi S, Nemirovski A, Hadar R, Gammal A, Cinar R, Hirsch HJ, Pollak Y, Gross I, Eldar-Geva T, Reyes-Capo DP, Han JC, Haqq AM, Gross-Tsur V, Wevrick R, Tam J.

Journal: Mol Metab. 2016 Oct 22;5(12):1187-1199. eCollection 2016 Dec. Go To Journal

Muscle dysfunction caused by loss of Magel2 in a mouse model of Prader-Willi and Schaaf-Yang syndromes

Published Year: 2016

Author: Kamaludin AA, Smolarchuk C, Bischof JM, Eggert R, Greer JJ, Ren J, Lee JJ, Yokota T, Berry FB, Wevrick R

Journal: Hum Mol Genet. 2016 Jul 19. pii: ddw225. [Epub ahead of print] Go To Journal

Oligonucleotide-induced alternative splicing of serotonin 2C receptor reduces food intake

Published Year: 2016

Author: Zhang Z, Shen M, Gresch PJ, Ghamari-Langroudi M, Rabchevsky AG, Emeson RB, Stamm S.

Journal: EMBO Mol Med. 2016 Jul 12. pii: e201506030. doi: 10.15252/emmm.201506030. [Epub ahead of print] Go To Journal

Reduced Gamma-Aminobutyric Acid Is Associated With Emotional and Behavioral Problems in Prader–Willi Syndrome

Published Year: 2016

Author: Rice LJ, Lagopoulos J, Brammer M, Einfeld SL

Journal: Am J Med Genet B Neuropsychiatr Genet. 2016 Jun 24. doi: 10.1002/ajmg.b.32472. [Epub ahead of print] Go To Journal

Efficient Generation of Hypothalamic Neurons from Human Pluripotent Stem Cells

Published Year: 2016

Author: Wang L, Egli D, Leibel RL

Journal: Curr Protoc Hum Genet. 2016 Jul 1;90:21.5.1-21.5.14. doi: 10.1002/cphg.3. Go To Journal

Loss of Magel2 Impairs the Development of Hypothalamic Anorexigenic Circuits

Published Year: 2016

Author: Maillard J, Park S, Croizier S, Vanacker C, Cook JH, Prevot V, Tauber M, Bouret SG

Journal: Hum Mol Genet. 2016 Jun 10. pii: ddw169. [Epub ahead of print] Go To Journal

The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families

Published Year: 2016

Author: 1. Fountain MD, Aten E, Cho MT, Juusola J, Walkiewicz MA, Ray JW, Xia F, Yang Y, Graham BH, Bacino CA, Potocki L, van Haeringen A, Ruivenkamp CA, Mancias P, Northrup H, Kukolich MK, Weiss MM, van Ravenswaaij-Arts CM, Mathijssen IB, Levesque S, Meeks N, Rosenfeld JA, Lemke D, Hamosh A, Lewis SK, Race S, Stewart LL, Hay B, Lewis AM, Guerreiro RL, Bras JT, Martins MP, Derksen-Lubsen G, Peeters E, Stumpel C, Stegmann S, Bok LA, Santen GW, Schaaf CP.

Journal: Genet Med. 2016 May 19. doi: 10.1038/gim.2016.53 Go To Journal

Lateral Hypothalamic Area Glutamatergic Neurons and Their Projections to the Lateral Habenula Regulate Feeding and Reward

Published Year: 2016

Author: Stamatakis AM, Van Swieten M, Basiri ML, Blair GA, Kantak P, Stuber GD

Journal: J Neurosci. 2016 Jan 13;36(2):302-11. doi: 10.1523/JNEUROSCI.1202-15.2016. Go To Journal

Nutritional Phases in Prader-Willi Syndrome: Evolutionary and Clinical Interpretations

Published Year: 2016

Author: Kotler J, Balko K, Berall G, Haig D.

Journal: Journal of Evolutionary Medicine, 2016 May 24. doi:10.4303/jem/235968 Go To Journal

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

Published Year: 2016

Author: Beauloye V, Diene G, Kuppens R, Zech F, Winandy C, Molinas C, Faye S, Kieffer I, Beckers D, Nergårdh R, Hauffa B, Derycke C, Delhanty P, Hokken-Koelega A, Tauber M

Journal: Orphanet J Rare Dis. 2016 May 4;11(1):56. doi: 10.1186/s13023-016-0440-0 Go To Journal

Monogenic mouse models of autism spectrum disorders: Common mechanisms and missing links

Published Year: 2016

Author: Hulbert SW, Jiang YH2

Journal: Neuroscience. 2016 May 3;321:3-23. doi: 10.1016/j.neuroscience.2015.12.040. Epub 2015 Dec 28. Go To Journal

Dual function of C/D box small nucleolar RNAs in rRNA modification and alternative pre-mRNA splicing

Published Year: 2016

Author: Falaleeva M, Pages A, Matuszek Z, Hidmi S, Agranat-Tamir L, Korotkov K, Nevo Y, Eyras E, Sperling R, Stamm S

Journal: Proc Natl Acad Sci U S A. 2016 Mar 22;113(12):E1625-34. doi: 10.1073/pnas.1519292113. Epub 2016 Mar 8. Go To Journal

Progress in Small Molecule and Biologic Therapeutics Targeting Ghrelin Signaling

Published Year: 2016

Author: McGovern KR, Darling JE, Hougland JL

Journal: Mini Rev Med Chem. 2015 Jul 21. [Epub ahead of print] Go To Journal

Novel Regulator of Acylated Ghrelin, CF801, Reduces Weight Gain, Rebound Feeding after a Fast, and Adiposity in Mice

Published Year: 2016

Author: Wellman MK, Patterson ZR, MacKay H, Darling JE, Mani BK, Zigman JM, Hougland JL, Abizaid A

Journal: Front Endocrinol (Lausanne). 2015 Sep 25;6:144. doi: 10.3389/fendo.2015.00144. eCollection 2015 Go To Journal

Autism spectrum disorder in Prader-Willi syndrome: A systematic review

Published Year: 2016

Author: Bennett JA, Germani T, Haqq AM, Zwaigenbaum L1

Journal: Am J Med Genet A. 2015 Dec;167(12):2936-44. doi: 10.1002/ajmg.a.37286. Epub 2015 Aug 29. Go To Journal

A review of chemosensory perceptions, food preferences and food-related behaviours in subjects with Prader-Willi Syndrome

Published Year: 2016

Author: Martínez ML, Haqq AM, Wismer WV

Journal: Appetite. 2015 Dec 20;99:17-24. doi: 10.1016/j.appet.2015.12.021. [Epub ahead of print] Go To Journal

Lateral hypothalamic circuits for feeding and reward

Published Year: 2016

Author: Cristiana Meneghello, Daniela Segat, Elisabetta Fortunati

Journal: Nat Neurosci. 2016 Jan 27;19(2):198-205. doi: 10.1038/nn.4220. Go To Journal

Obesity Impairs the Action of the Neuroendocrine Ghrelin System

Published Year: 2016

Author: Zigman JM, Bouret SG, Andrews ZB

Journal: Trends Endocrinol Metab. 2016 Jan;27(1):54-63. doi: 10.1016/j.tem.2015.09.010. Epub 2015 Nov 2. Go To Journal

Insulin-driven translational capacity is impaired in primary fibroblasts of Prader Willi

Published Year: 2015

Author: Cristiana Meneghello, Daniela Segat, Elisabetta Fortunati

Go To Journal

USP7 Acts as a Molecular Rheostat to Promote WASH-Dependent Endosomal Protein Recycling and Is Mutated in a Human Neurodevelopmental Disorder

Published Year: 2015

Author: Hao YH, Fountain MD Jr, Fon Tacer K, Xia F, Bi W, Kang SH, Patel A, Rosenfeld JA, Le Caignec C, Isidor B, Krantz ID, Noon SE, Pfotenhauer JP, Morgan TM, Moran R, Pedersen RC, Saenz MS, Schaaf CP, Potts PR

Journal: Mol Cell. 2015 Sep 17;59(6):956-69. doi: 10.1016/j.molcel.2015.07.033. Epub 2015 Sep 10 Go To Journal

Neural correlates of self-injurious behavior in Prader-Willi syndrome

Published Year: 2015

Author: Klabunde M, Saggar M, Hustyi KM, Hammond JL, Reiss AL, Hall SS

Journal: Hum Brain Mapp. 2015 Oct;36(10):4135-43. doi: 10.1002/hbm.22903. Epub 2015 Jul 14. Go To Journal

Sexual dichotomy of gonadal function in Prader-Willi syndrome from early infancy through the fourth decade

Published Year: 2015

Author: Hirsch HJ, Eldar-Geva T, Bennaroch F, Pollak Y, Gross-Tsur V

Journal: Hum Reprod. 2015 Sep 6. pii: dev213. [Epub ahead of print] Go To Journal

Epigenetic mechanisms in diurnal cycles of metabolism and neurodevelopment

Published Year: 2015

Author: Powell WT, LaSalle JM

Journal: Hum Mol Genet. 2015 Jun 23. pii: ddv234. [Epub ahead of print] Go To Journal

Macronutrient regulation of Ghrelin and Peptide YY in Pediatric Obesity and Prader Willi Syndrome (PWS)

Published Year: 2015

Author: Balikcioglu PG, Balikcioglu M, Muehlbauer MJ, Purnell JQ, Broadhurst D, Freemark M, Haqq AM

Journal: J Clin Endocrinol Metab. 2015 Aug 10:jc20152503. [Epub ahead of print] Go To Journal

SNORD116 and SNORD115 change expression of multiple genes and modify each other's activity

Published Year: 2015

Author: Falaleeva M, Surface J, Shen M, de la Grange P, Stamm S

Journal: Gene. 2015 Jul 26. pii: S0378-1119(15)00848-3. doi: 10.1016/j.gene.2015.07.023. [Epub ahead of print] Go To Journal

Metabolic profiling in Prader-Willi syndrome and nonsyndromic obesity: sex differences and the role of growth hormone

Published Year: 2015

Author: Irizarry KA, Bain J, Butler MG, Ilkayeva O, Muehlbauer M, Haqq AM, Freemark M

Journal: Clin Endocrinol (Oxf). 2015 Mar 4. doi: 10.1111/cen.12766. [Epub ahead of print] Go To Journal

A new class of ghrelin O-acyltransferase inhibitors incorporating triazole-linked lipid mimetic groups

Published Year: 2015

Author: Zhao F, Darling JE, Gibbs RA, Hougland JL

Journal: Bioorg Med Chem Lett. 2015 May 15. pii: S0960-894X(15)00459-X. doi: 10.1016/j.bmcl.2015.05.009. [Epub ahead of print] Go To Journal

Progressive postnatal decline in leptin sensitivity of arcuate hypothalamic neurons in the Magel2-null mouse model of Prader-Willi Syndrome

Published Year: 2015

Author: Pravdivyi I, Ballanyi K, Colmers WF, Wevrick R

Journal: Hum Mol Genet. 2015 Apr 29. pii: ddv159. [Epub ahead of print] Go To Journal

Metabolic profiling in Prader-Willi syndrome and non-syndromic obesity: sex differences and the role of growth hormone

Published Year: 2015

Author: Irizarry KA, Bain J, Butler MG, Ilkayeva O, Muehlbauer M, Haqq AM, Freemark M

Journal: Clin Endocrinol (Oxf). 2015 Mar 4. doi: 10.1111/cen.12766. [Epub ahead of print] Go To Journal

Ageing in people with Prader-Willi syndrome: mortality in the UK population cohort and morbidity in an older sample of adults

Published Year: 2015

Author: Whittington JE, Holland AJ, Webb T.

Journal: Psychol Med. 2014 Aug 4:1-7. [Epub ahead of print] Go To Journal

Chemical identity of hypothalamic neurons engaged by leptin in reproductive control

Published Year: 2015

Author: Ratra DV, Elias CF

Journal: J Chem Neuroanat. 2014 Nov;61-62:233-8. doi: 10.1016/j.jchemneu.2014.05.005. Epub 2014 Jun 7 Go To Journal

Estradiol modulates Kiss1 neuronal response to ghrelin

Published Year: 2015

Author: Carol F. Elias

Journal: American Journal of Physiology - Regulatory, Integrative and Comparative Physiology Published 1 January 2014 Vol. 306 no. 1, R1-R9 DOI: 10.1152/ajpregu.00444.2013 Go To Journal

Hyperphagia: Current concepts and future directions proceedings of the 2nd international conference on hyperphagia

Published Year: 2015

Author: Steven B. Heymsfield, Nicole M. Avena, Leslie Baier, Phillip Brantley, George A. Bray, Lisa C. Burnett, Merlin G. Butler, Daniel J. Driscoll, Dieter Egli, Joel Elmquist, Janice L. Forster, Anthony P. Goldstone, Linda M. Gourash, Frank L. Greenway, Joan C. Han, James G. Kane, Rudolph L. Leibel, Ruth J.F. Loos, Ann O. Scheimann, Christian L. Roth, Randy J. Seeley, Val Sheffield, Maïthé Tauber, Christian Vaisse, Liheng Wang, Robert A. Waterland, Rachel Wevrick, Jack A. Yanovski andAndrew R. Zinn

Journal: Obesity Volume 22, Issue S1, pages S1–S17, February 2014 Go To Journal

Neonatal overnutrition causes early alterations in the central response to peripheral ghrelin

Published Year: 2015

Author: Gustav Collden, Eglantine Balland, Jyoti Parkash, Emilie Caron, Fanny Langlet, Vincent Prevot, Sebastien G. Bouret

Journal: Molecular Metabolism Volume 4, Issue 1, January 2015, Pages 15–24 Go To Journal

A critical view of the use of genetic tools to unveil neural circuits: the case of leptin action in reproduction

Published Year: 2015

Author: Carol F. Elias

Journal: American Journal of Physiology - Regulatory, Integrative and Comparative Physiology Published 1 January 2014 Vol. 306 no. 1, R1-R9 DOI: 10.1152/ajpregu.00444.2013 Go To Journal

Longitudinal Study of Reproductive Hormones in Prader-Willi Syndrome (PWS) from Early Infancy through the Fourth Decade

Published Year: 2015

Author: Harry J Hirsch, Talia Eldar-Geva, Yehuda Pollak, Fortu Bennaroch and Varda Gross-Tsur

Journal: Endocrine Society's 96th Annual Meeting and Expo, June 21–24, 2014 - Chicago SUN-0153 Go To Journal

CRF type 2 receptors mediate the metabolic effects of ghrelin in C2C12 cells

Published Year: 2015

Author: Eran Gershon and Wylie W. Vale

Journal: Obesity Volume 22, Issue 2, pages 380–389, February 2014 Go To Journal

Abdominal Leanness in the Imprinting Center-Deletion Mouse Model for Prader-Willi Syndrome May Result from Excess Thermogenesis

Published Year: 2015

Author: David M Golding, Jennifer R Davies, Anthony R Isles and Timothy Wells

Journal: Endocrine Society's 96th Annual Meeting and Expo, June 21–24, 2014 - Chicago OR45-6 Go To Journal

Neuropeptide Y Activity in the Nucleus Accumbens Modulates Feeding Behavior and Neuronal Activity

Published Year: 2015

Author: van den Heuvel JK, Furman K2, Gumbs MC, Eggels L, Opland DM, Land BB, Kolk SM, Narayanan N, Fliers E, Kalsbeek A, DiLeone RJ, la Fleur SE

Journal: Biol Psychiatry. 2014 Jun 18. pii: S0006-3223(14)00431-4. doi: 10.1016/j.biopsych.2014.06.008. [Epub ahead of print] Go To Journal

Structure-activity analysis of human ghrelin o-acyltransferase reveals chemical determinants of ghrelin selectivity and acyl group recognition

Published Year: 2015

Author: Darling JE, Zhao F, Loftus RJ, Patton LM, Gibbs RA, Hougland JL.

Journal: Biochemistry. 2015 Feb 3;54(4):1100-10. doi: 10.1021/bi5010359. Epub 2015 Jan 21. Go To Journal

Gene-Environment Interactions Controlling Energy and Glucose Homeostasis and the Developmental Origins of Obesity

Published Year: 2015

Author: Bouret S, Levin BE, Ozanne SE

Journal: Physiol Rev. 2015 Jan;95(1):47-82 Go To Journal

Differentiation of hypothalamic-like neurons from human pluripotent stem cells

Published Year: 2015

Author: Wang L, Meece K, Williams DJ, Lo KA, Zimmer M, Heinrich G, Martin Carli J, Leduc CA, Sun L, Zeltser LM, Freeby M, Goland R, Tsang SH, Wardlaw SL, Egli D, Leibel RL.

Journal: J Clin Invest. 2015 Feb 2;125(2):796-808. doi: 10.1172/JCI79220. Epub 2015 Jan 2. Go To Journal

Neonatal ghrelin programs development of hypothalamic feeding circuits

Published Year: 2015

Author: Sophie M. Steculorum, Gustav Collden, Berengere Coupe, Sophie Croizier, Sarah Lockie, Zane B. Andrews, Florian Jarosch, Sven Klussmann and Sebastien G. Bouret

Journal: J Clin Invest. 2015 Feb 2;125(2):846-58. doi: 10.1172/JCI73688. Epub 2015 Jan 20. Go To Journal

Visualizing hypothalamic network dynamics for appetitive and consummatory behaviors

Published Year: 2015

Author: Jennings JH, Ung RL, Resendez SL, Stamatakis AM, Taylor JG, Huang J, Veleta K, Kantak PA, Aita M, Shilling-Scrivo K, Ramakrishnan C, Deisseroth K, Otte S, Stuber GD

Journal: Cell. 2015 Jan 29;160(3):516-27. doi: 10.1016/j.cell.2014.12.026. Go To Journal

Reduced cortical complexity in children with Prader-Willi syndrome and its association with cognitive impairment and developmental delay

Published Year: 2014

Author: Lukoshe A, Hokken-Koelega AC, van der Lugt A, White T

Journal: PLoS One. 2014 Sep 16;9(9) Go To Journal

Hypoglycemia in Prader-Willi syndrome

Published Year: 2014

Author: Harrington RA, Weinstein DA, Miller JL

Journal: Am J Med Genet A. 2014 May;164A(5):1127-9 Go To Journal

Abnormal response to the anorexic effect of GHS-R inhibitors and exenatide in male Snord116 deletion mouse model for Prader-Willi syndrome

Published Year: 2014

Author: Lin D, Wang Q, Ran H, Liu K, Wang Y, Wang J, Liu Y, Chen R, Sun Y, Liu R, Ding F

Journal: Endocrinology. 2014 Jul;155(7):2355-62. doi: 10.1210/en.2013-2083 Go To Journal

Characterization of minipuberty in infants with Prader-Willi syndrome

Published Year: 2014

Author: Hirsch HJ, Eldar-Geva T, Erlichman M, Pollak Y, Gross-Tsur V.

Journal: Horm Res Paediatr. 2014;82(4):230-7. doi: 10.1159/000365047. Epub 2014 Aug 23. Go To Journal

A double-blind randomized controlled trial of oxytocin nasal spray in Prader Willi syndrome

Published Year: 2014

Author: Einfeld SL, Smith E, McGregor IS, Steinbeck K, Taffe J, Rice LJ, Horstead SK, Rogers N, Hodge MA, Guastella AJ

Journal: Am J Med Genet A. 2014 Sep;164A(9):2232-9. doi: 10.1002/ajmg.a.36653. Epub 2014 Jun 30. Go To Journal

Experimental functional analysis of severe skin-picking behavior in Prader–Willi syndrome

Published Year: 2014

Author: Hall SS, Hustyi KM, Chui C, Hammond JL

Journal: Res Dev Disabil. 2014 Oct;35(10):2284-92. doi: 10.1016/j.ridd.2014.05.025. Epub 2014 Jun 19. Go To Journal

Imprinted expression of UBE3A in non-neuronal cells from a Prader-Willi syndrome patient with an atypical deletion

Published Year: 2014

Author: Martins-Taylor K1, Hsiao JS, Chen PF, Glatt-Deeley H, De Smith AJ, Blakemore AI, Lalande M, Chamberlain SJ

Journal: Hum Mol Genet. 2014 May 1;23(9):2364-73. doi: 10.1093/hmg/ddt628. Epub 2013 Dec 20. Go To Journal

Reactivation of Maternal SNORD116 Cluster via SETDB1 knockdown in Prader-Willi Syndrome iPSCs

Published Year: 2014

Author: Cruvinel E1, Budinetz T, Germain N, Chamberlain S, Lalande M, Martins-Taylor K

Journal: Hum Mol Genet. 2014 Sep 1;23(17):4674-85. doi: 10.1093/hmg/ddu187. Epub 2014 Apr 23. Go To Journal

Prader-Willi syndrome, excessive daytime sleepiness, and narcoleptic symptoms: a case report

Published Year: 2014

Author: Weselake SV, Foulds JL, Couch R, Witmans MB, Rubin D, Haqq AM

Journal: J Med Case Rep. 2014 Apr 17;8:127. doi: 10.1186/1752-1947-8-127. Go To Journal

Kiss of the Mutant Mouse: How Genetically Altered Mice Advanced Our Understanding of Kisspeptin's Role in Reproductive Physiology

Published Year: 2013

Author: Dungan Lemko HM, Elias CF

Journal: Endocrinology. 2012 Nov;153(11):5119-29. doi: 10.1210/en.2012-1494. Epub 2012 Sep 25 Go To Journal

Effects of Adiposity and Prader-Willi Syndrome on Postexercise Heart Rate Recovery

Published Year: 2013

Author: Castner DM, Rubin DA, Judelson DA, Haqq AM

Journal: J Obes. 2013;2013:384167. doi: 10.1155/2013/384167. Epub 2013 May 22 Go To Journal

Direct cloning of double-stranded RNAs from RNase protection analysis reveals processing patterns of C/D box snoRNAs and provides evidence for widespread antisense transcript expression

Published Year: 2013

Author: Shen M, Eyras E, Wu J, Khanna A, Josiah S, Rederstorff M, Zhang MQ, Stamm S

Journal: Nucleic Acids Res. 2011 Dec;39(22):9720-30. doi: 10.1093/nar/gkr684. Epub 2011 Aug 31 Go To Journal

Growth Hormone Research Society workshop summary: consensus guidelines for recombinant human growth hormone therapy in Prader-Willi syndrome.

Published Year: 2013

Author: Deal CL, Tony M, Höybye C, Allen DB, Tauber M, Christiansen JS; 2011 Growth Hormone in Prader-Willi Syndrome Clinical Care Guidelines Workshop Participants

Journal: J Clin Endocrinol Metab. 2013 Jun;98(6):E1072-87. doi: 10.1210/jc.2012-3888. Epub 2013 Mar 29. Go To Journal

Recommendations for the investigation of animal models of Prader-Willi syndrome

Published Year: 2013

Author: Resnick JL, Nicholls RD, Wevrick R.

Journal: Mamm Genome. 2013 Jun;24(5-6):165-78. doi: 10.1007/s00335-013-9454-2. Epub 2013 Apr 23. Go To Journal

Leptin signaling and circuits in puberty and fertility

Published Year: 2013

Author: Elias CF, Purohit D.

Journal: Cell Mol Life Sci. 2013 Mar;70(5):841-62. doi: 10.1007/s00018-012-1095-1. Epub 2012 Aug 2. Go To Journal

Management of hypogonadism in adolescent girls and adult women with Prader-Willi syndrome

Published Year: 2013

Author: Eldar-Geva T, Hirsch HJ, Pollak Y, Benarroch F, Gross-Tsur V

Journal: Am J Med Genet A. 2013 Dec;161(12):3030-4. doi: 10.1002/ajmg.a.36152. Epub 2013 Aug 16. Go To Journal

Differential gene expression reveals mitochondrial dysfunction in an imprinting center deletion mouse model of prader-willi syndrome

Published Year: 2013

Author: Yazdi PG, Su H, Ghimbovschi S, Fan W, Coskun PE, Nalbandian A, Knoblach S, Resnick JL, Hoffman E, Wallace DC, Kimonis VE

Journal: Clin Transl Sci. 2013 Oct;6(5):347-55. doi: 10.1111/cts.12083. Epub 2013 Jul 29 Go To Journal

R-loop formation at Snord116 mediates topotecan inhibition of Ube3a-antisense and allele-specific chromatin decondensation

Published Year: 2013

Author: Powell WT, Coulson RL, Gonzales ML, Crary FK, Wong SS, Adams S, Ach RA, Tsang P, Yamada NA, Yasui DH, Chédin F, LaSalle JM

Journal: Proc Natl Acad Sci U S A. 2013 Aug 20;110(34):13938-43. doi: 10.1073/pnas.1305426110. Epub 2013 Aug 5 Go To Journal

Divergent structural brain abnormalities between different genetic subtypes of children with Prader--Willi syndrome

Published Year: 2013

Author: Lukoshe A, White T, Schmidt MN, van der-Lugt A, Hokken-Koelega AC

Journal: J Neurodev Disord. 2013 Oct 22;5(1):31. [Epub ahead of print] Go To Journal

Development of the Hypothalamic Melanocortin System

Published Year: 2013

Author: Berengere Coupe and Sebastien G. Bouret

Journal: Front Endocrinol (Lausanne). 2013 Mar 27;4:38. doi: 10.3389/fendo.2013.00038. eCollection 2013. Go To Journal

PYY3-36 and pancreatic polypeptide reduce food intake in an additive manner via distinct hypothalamic dependent pathways in mice

Published Year: 2013

Author: Shi YC, Lin Z, Lau J, Zhang H, Yagi M, Kanzler I, Sainsbury A, Herzog H, Lin S.

Journal: Obesity (Silver Spring). 2013 Jun 26. doi: 10.1002/oby.20534 Go To Journal

An analysis of the topography, severity, potential sources of reinforcement, and treatments utilized for skin picking in Prader-Willi syndrome

Published Year: 2013

Author: Hustyi KM, Hammond JL, Rezvani AB, Hall SS

Journal: Res Dev Disabil. 2013 Jun 26;34(9):2890-2899 Go To Journal

A Prader-Willi locus lncRNA cloud modulates diurnal genes and energy expenditure

Published Year: 2013

Protein-binding elements established in the oocyte of primary imprint of the Prader-Willi/Angelman syndromes domain

Published Year: 2013

Author: Kaufman Y, Heled M, Perk J, Razin A, Shemer R

Journal: Proc Natl Acad Sci U S A. 2009 Jun 23;106(25):10242-7 Go To Journal

Case series of behavioral psychotherapy for obsessive-compulsive symptoms in youth with Prader-Willi syndrome

Published Year: 2013

Author: Storch EA, Rahman O, Morgan J Brauer L, Miller J & Murphy T

Journal: J Phys Devel Disabi. 23(4): 359-368, 2011 Go To Journal

Update on body composition and bone density in children with Prader-Willi Syndrome

Published Year: 2013

Author: Rubin DA, Cano-Sokoloff N, Castner DL, Judelson DA, Wright P, Duran A, Haqq AM

Journal: Horm Res Paediatr 2013;79:271-276 (DOI: 10.1159/000350525) Go To Journal

Pyrvinium pamoate changes alternative splicing of the serotonin receptor 2C by influencing its RNA structure

Published Year: 2013

Author: Shen M, Bellaousov S, Hiller M, de La Grange P, Creamer TP, Malina O, Sperling R, Mathews DH, Stoilov P, Stamm S

Journal: Nucleic Acids Res. 2013 Apr 1;41(6):3819-32 Go To Journal

Peptide inhibitors disrupt the serotonin 5-HT2C receptor interaction with phosphatase and tensin homolog to allosterically modulate cellular signaling and behavior

Published Year: 2013

Author: Anastasio NV, Agarkov, A, Jeng Y, Bremer NM, Smith TD, Stutz SJ, Fox RG, Fink LHL, Charendoff M, Craft J, Bubar MJ, Watson CS, Briggs JM, Gilbertson SR, Cunningham KS

Journal: J Neurosci. 2013 Jan 23;33(4):1615-30 Go To Journal

Imprinting in the CNS and neurodevelopment disorders

Published Year: 2013

Author: Powell W, LaSalle JM

Journal: Epigenetic regulation in the nervous system: Basic mechanisms and clinical impact. Edited by Nestler E, Sweatt D, Meaney M, Akbarian S. Elsevier Press, 267-279, 2013 Go To Journal

R-loop formation is a distinctive characteristic of unmethylated human CpG island promoters

Published Year: 2013

Author: Ginno PA, Lott PL, Christensen HC, Korf I, Chédin F

Journal: Mol Cell. 2012 Mar 30;45(6):814-25 Go To Journal

Autonomic nervous system dysfunction in obesity and Prader–Willi syndrome: current evidence and implications for future obesity therapies

Published Year: 2013

Author: 6. Haqq AM, DeLorey DS, Sharma AM , Freemark M , Kreier F, Mackenzie ML, Richer LP

Journal: Clinical Obesity 1:175–183, 2012 Go To Journal

Temporal and developmental requirements for the Prader-Willi imprinting center

Published Year: 2013

Author: DuBose AJ, Smith EY, Johnstone KA, Resnick JL

Journal: Proc Natl Acad Sci U S A. 2012 Feb 28;109(9):3446-50 Go To Journal

A new deletion refines the boundaries of the murine Prader-Willi syndrome imprinting center

Published Year: 2011

Author: Dubose AJ, Smith EY, Yang TP, Johnstone KA, Resnick JL

Journal: Hum Molec Genet 20:3461-3466, 2011. Go To Journal

Ghrelin mediates stress- induced food-reward behavior in mice

Published Year: 2011

Author: Chuang JC, Perello M, Sakata I, Osborne-Lawrence S, Savitt JM, Lutter M, Zigman JM.

Journal: J Clin Invest. 121:2684-92, 2011. Go To Journal

Hypothalamic sites of leptin action linking metabolism and reproduction

Published Year: 2011

Author: Donato J Jr, Cravo RM, Frazão R, Elias CF

Journal: Neuroendocrinology. 93:9-18, 2011 Go To Journal

Induced pluripotent stem cell models of the genomic imprinting disorders Angelman and Prader-Willi syndromes

Published Year: 2011

Author: Chamberlain SJ, Chen PF, Ng KY, Bourgois-Rocha F, Lemtiri-Chlieh F, Levine ES, Lalande M.

Journal: Proc Natl Acad Sci U S A. 107:17668-73, 2010. Go To Journal

A preliminary analysis of the phenomenology of skin-picking in Prader-Willi syndrome

Published Year: 2011

Author: Morgan JR, Storch EA, Woods DW, Bodzin D, Lewin AB, Murphy TK

Journal: Child Psychiatry and Human Development 41:448-63, 2010. Go To Journal

Neonatal maternal deprivation response and developmental changes in gene expression revealed by hypothalamic gene expression profiling in mice

Published Year: 2011

Author: Ding F, Li HH, Li J, Myers RM, Francke U.

Journal: PLoS One. 5(2):e9402, 2010. Go To Journal

The snoRNA MBII-52 (SNORD 115) is processed into smaller RNAs and regulates alternative splicing

Published Year: 2011

Author: Kishore S, Khanna A, Zhang Z, Hui J, Balwierz PJ, Stefan M, Beach C, Nicholls RD, Zavolan M, Stamm S.

Journal: Human Molecular Genetics 19:1153-64, 2010 Go To Journal

Ghrelin increases the rewarding value of high-fat diet in an orexin-dependent manner

Published Year: 2011

Author: Perello M, Sakata I, Birnbaum S, Chuang JC, Osborne-Lawrence S, Rovinsky SA, Woloszyn J, Yanagisawa M, Lutter M, Zigman JM

Journal: Biological Psychiatry 67:880-886, 2010 Go To Journal

PYY transgenic mice are protected against diet-induced and genetic obesity

Published Year: 2011

Author: Boey D, Lin S, Enriquez RF, Lee NJ, Slack K, Couzens M, Baldock PA, Herzog H, Sainsbury A.

Journal: Neuropeptides. 42:19-30, 2008. Go To Journal

SnoRNA Snord116 (Pwcr1/MBII-85) deletion causes growth deficiency and hyperphagia in mice

Published Year: 2011

Author: Ding F, Li HH, Zhang S, Solomon NM, Camper SA, Cohen P, Francke U.

Journal: PLoS ONE. 3(3), 2008 Go To Journal

The orexigenic hormone ghrelin defends against depressive symptoms in chronic stress

Published Year: 2011

Author: Lutter M, Sakata I, Osborne-Lawrence S, Rovinsky SA, Anderson JG, Jung S, Birnbaum S, Yanagisawa M, Elmquist JK, Nestler EJ, Zigman JM

Journal: Nature Neuroscience. 11:7530753, 2008. Go To Journal

Loss of the Prader-Willi syndrome protein necdin causes defective migration, axonal outgrowth, and survival of embryonic sympathetic neurons

Published Year: 2011

Author: Tennese AA, Gee CB, Wevrick R.

Journal: Developmental Dynamics 237:1935-1943, 2008. Go To Journal

Genomic analysis of the chromosome 15q11-q13 Prader-Willi syndrome region and characterization of transcripts for GOLGA8E and WHCD1L1 from the proximal breakpoint region

Published Year: 2011

Author: Jiang YH, Wauki K, Liu Q, Bressler J, Pan Y, Kashork CD, Shaffer LG, Beaudet AL

Journal: BMC Genomics 9:50, 2008 Go To Journal

Rapid generation of splicing reporters with pSpliceExpress

Published Year: 2011

Author: Kishore S, Khanna A, Stamm S

Journal: Gene. 427:104-10, 2008. Go To Journal

Pharmacological and molecular characterization of ATP-sensitive K+ conductances in CART and NPY/AgRP expressing neurons of the hypothalamic arcuate nucleus

Published Year: 2011

Author: van den Top M, Lyons DJ, Lee K, Coderre E, Renaud LP, Spanswick D.

Journal: Neuroscience. 144:815-824, 2007. Go To Journal

Integration of metabolic stimuli in the hypothalamic arcuate nucleus

Published Year: 2011

Author: van den Top M, Spanswick D.

Journal: Progress Brain Research 153:141-154, 2006. Go To Journal

Peptide YY ablation in mice leads to the development of hyperinsulinaemia and obesity

Published Year: 2011

Author: Boey D, Lin S, Karl T, Baldock P, Lee N, Enriquez R, Couzens M, Slack K, Dallmann R, Sainsbury A, Herzog H.

Journal: Diabetologia 49: 1360-1370, 2006. Go To Journal

Genetic mapping of putative Chrna7 and Luzp2 neuronal transcriptional enhancers due to impact of a transgene-insertion and 6.8 Mb deletion in a mouse model of Prader-Willi and Angelman syndromes.

Published Year: 2010

Author: Stefan M, Claiborn KC, Stasiek E, Chai JH, Ohta T, Longnecker R, Greally JM, Nicholls RD

Journal: BMC Genomics. 6:157, 2005 Go To Journal

Lack of Pwcr1/MBII-85 snoRNA is critical for neonatal lethality in Prader-Willi syndrome mouse models.

Published Year: 2010

Author: Ding F, Prints Y, Dhar MS, Johnson DK, Garnacho-Montero C, Nicholls RD, Francke U

Journal: Mammalian Genome. 16:424-431, 2005. Go To Journal

Ghrelin, peptide YY and their receptors: gene expression in brain from subjects with and without Prader-Willi syndrome

Published Year: 2010

Author: Talebizadeh Z, Kibiryeva N, Bittel DC, Butler MG

Journal: International Journal of Molecular Medicine 15:707-711, 2005

Hormonal and metabolic defects in a Prader-Willi syndrome mouse model with neonatal failure to thrive.

Published Year: 2010

Author: Stefan M, Ji H, Simmons RA, Cummings DE, Ahima RS, Friedman MI, Nicholls RD

Journal: Endocrinology 146:4377-4385, 2005. Go To Journal

Orexigen-sensitive NPY/AgRP pacemaker neurons in the hypothalamic arcuate nucleus

Published Year: 2009

Author: van den Top M, Lee K, Whyment AD, Blanks AM, Spanswick D.

Journal: Nature Neuroscience 7: 493 - 494, 2004. Go To Journal

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