Prader-Willi syndrome: reflections on seminal studies and future therapies

Prader–Willi-Like Phenotype Caused by an Atypical 15q11.2 Microdeletion

(2020) Qiming Tan et al.   Genes

A bipartite boundary element restrictsUBE3Aimprinting to mature neurons

(2019) Jack S. Hsiao et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

(2019) Virginia Kimonis et al.   PLoS One

SMCHD1 Merges Chromosome Compartments and Assists Formation of Super-Structures on the Inactive X

(2018) Chen-Yu Wang et al.   CELL

2′-O-methylation in mRNA disrupts tRNA decoding during translation elongation

(2018) Junhong Choi et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

2′-O-methylation in mRNA disrupts tRNA decoding during translation elongation

(2018) Junhong Choi et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Smchd1 regulates long-range chromatin interactions on the inactive X chromosome and at Hox clusters

(2018) Natasha Jansz et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

The non-canonical SMC protein SmcHD1 antagonises TAD formation and compartmentalisation on the inactive X chromosome

(2018) Michal R. Gdula et al.   Nature Communications

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

(2017) Maéva Langouët et al.   HUMAN MOLECULAR GENETICS

KRAB zinc-finger proteins contribute to the evolution of gene regulatory networks

(2017) Michaël Imbeault et al.   NATURE

De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development

(2017) Christopher T Gordon et al.   NATURE GENETICS

SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome

(2017) Natalie D Shaw et al.   NATURE GENETICS

Nm-seq maps 2′-O-methylation sites in human mRNA with base precision

(2017) Qing Dai et al.   NATURE METHODS

RNA modifications and structures cooperate to guide RNA–protein interactions

(2017) Cole J.T. Lewis et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

High-throughput and site-specific identification of 2′- O -methylation sites using ribose oxidation sequencing (RibOxi-seq)

(2017) Yinzhou Zhu et al.   RNA

Phylogenetic Analysis of the SNORD116 Locus

(2017) Matthew Kocher et al.   Genes

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

(2016) Zhaiyi Zhang et al.   EMBO Molecular Medicine

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

(2016) Michael D. Fountain et al.   GENETICS IN MEDICINE

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

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

Unusual Processing Generates SPA LncRNAs that Sequester Multiple RNA Binding Proteins

(2016) Huang Wu et al.   MOLECULAR CELL

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

(2016) Yuna Kim et al.   NATURE MEDICINE

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

(2016) Ibrahim Knani et al.   Molecular Metabolism

RM-493, a Melanocortin-4 Receptor (MC4R) Agonist, Increases Resting Energy Expenditure in Obese Individuals

(2015) Kong Y. Chen et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Genome-wide binding and mechanistic analyses of Smchd1-mediated epigenetic regulation

(2015) Kelan Chen et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Species-specific alternative splicing leads to unique expression of sno-lncRNAs

(2014) Xiao-Ou Zhang et al.   BMC GENOMICS

Use of GLP-1 Receptor Agonists in Prader-Willi Syndrome: Report of Six Cases

(2014) Danilo Fintini et al.   DIABETES CARE

Influence of the Prader-Willi syndrome imprinting center on the DNA methylation landscape in the mouse brain

(2014) Jason O Brant et al.   Epigenetics

Highly restricted deletion of the SNORD116 region is implicated in Prader–Willi Syndrome

(2014) Eric Bieth et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Reactivation of maternal SNORD116 cluster via SETDB1 knockdown in Prader-Willi syndrome iPSCs

(2014) E. Cruvinel et al.   HUMAN MOLECULAR GENETICS

The noncoding RNA IPW regulates the imprinted DLK1-DIO3 locus in an induced pluripotent stem cell model of Prader-Willi syndrome

(2014) Yonatan Stelzer et al.   NATURE GENETICS

Prader-Willi Syndrome and Sleep-Disordered Breathing

(2014) Jennifer Miller et al.   PEDIATRIC ANNALS

Growth Charts for Non-Growth Hormone Treated Prader-Willi Syndrome

(2014) M. G. Butler et al.   PEDIATRICS

Rapid Birth-and-Death Evolution of Imprinted snoRNAs in the Prader-Willi Syndrome Locus: Implications for Neural Development in Euarchontoglires

(2014) Yi-Jun Zhang et al.   PLoS One

Angelman syndrome imprinting center encodes a transcriptional promoter

(2014) Michael W. Lewis et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The FSHD2 Gene SMCHD1 Is a Modifier of Disease Severity in Families Affected by FSHD1

(2013) Sabrina Sacconi et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Regulation of WASH-Dependent Actin Polymerization and Protein Trafficking by Ubiquitination

(2013) Yi-Heng Hao et al.   CELL

Central adrenal insufficiency in young adults with Prader-Willi Syndrome

(2013) Graziano Grugni et al.   CLINICAL ENDOCRINOLOGY

Long-term effects of recombinant human growth hormone therapy in children with Prader–Willi syndrome

(2013) Peter M. Wolfgram et al.   CURRENT OPINION IN PEDIATRICS

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

(2013) Kristen Martins-Taylor et al.   HUMAN MOLECULAR GENETICS

Growth Hormone Research Society Workshop Summary: Consensus Guidelines for Recombinant Human Growth Hormone Therapy in Prader-Willi Syndrome

(2013) Cheri L. Deal et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Epigenetic Functions of Smchd1 Repress Gene Clusters on the Inactive X Chromosome and on Autosomes

(2013) Anne-Valerie Gendrel et al.   MOLECULAR AND CELLULAR BIOLOGY

Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism

(2013) Christian P Schaaf et al.   NATURE GENETICS

Human inactive X chromosome is compacted through a PRC2-independent SMCHD1-HBiX1 pathway

(2013) Ryu-Suke Nozawa et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Central Precocious Puberty Caused by Mutations in the Imprinted Gene MKRN3

(2013) Ana Paula Abreu et al.   NEW ENGLAND JOURNAL OF MEDICINE

Psychiatric Illness and Intellectual Disability in the Prader–Willi Syndrome with Different Molecular Defects - A Meta Analysis

(2013) Lin Yang et al.   PLoS One

Smchd1 regulates a subset of autosomal genes subject to monoallelic expression in addition to being critical for X inactivation

(2013) Arne W Mould et al.   Epigenetics & Chromatin

The imprinted NPAP1/C15orf2 gene in the Prader–Willi syndrome region encodes a nuclear pore complex associated protein

(2012) Lisa C. Neumann et al.   HUMAN MOLECULAR GENETICS

Beneficial Effects of Growth Hormone Treatment on Cognition in Children with Prader-Willi Syndrome: A Randomized Controlled Trial and Longitudinal Study

(2012) Elbrich P. C. Siemensma et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

A reduced-energy intake, well-balanced diet improves weight control in children with Prader-Willi syndrome

(2012) J. L. Miller et al.   JOURNAL OF HUMAN NUTRITION AND DIETETICS

Long Noncoding RNAs with snoRNA Ends

(2012) Qing-Fei Yin et al.   MOLECULAR CELL

RNA splicing and editing modulation of 5-HT2C receptor function: relevance to anxiety and aggression in VGV mice

(2012) C B P Martin et al.   MOLECULAR PSYCHIATRY

Deconstruction of a neural circuit for hunger

(2012) Deniz Atasoy et al.   NATURE

Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2

(2012) Richard J L F Lemmers et al.   NATURE GENETICS

Growth hormone therapy improves cognition in children with Prader–Willi syndrome

(2012) Joana Osório   Nature Reviews Endocrinology

The SNORD115 (H/MBII-52) and SNORD116 (H/MBII-85) gene clusters at the imprinted Prader-Willi locus generate canonical box C/D snoRNAs

(2012) M.-L. Bortolin-Cavaille et al.   NUCLEIC ACIDS RESEARCH

MODOMICS: a database of RNA modification pathways—2013 update

(2012) Magdalena A. Machnicka et al.   NUCLEIC ACIDS RESEARCH

Mechanisms of activation of the paternally expressed genes by the Prader-Willi imprinting center in the Prader-Willi/Angelman syndromes domains

(2012) S. Rabinovitz et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Temporal and developmental requirements for the Prader-Willi imprinting center

(2012) A. J. DuBose et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The FSH-inhibin axis in prader-willi syndrome: heterogeneity of gonadal dysfunction

(2012) Varda Gross-Tsur et al.   Reproductive Biology and Endocrinology

Nutritional phases in Prader-Willi syndrome

(2011) Jennifer L. Miller et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Multiple forms of hypogonadism of central, peripheral or combined origin in males with Prader-Willi syndrome

(2011) A. F. Radicioni et al.   CLINICAL ENDOCRINOLOGY

Assessment of central adrenal insufficiency in children and adolescents with Prader-Willi syndrome

(2011) Andrea Corrias et al.   CLINICAL ENDOCRINOLOGY

H3K9 methyltransferase G9a and the related molecule GLP

(2011) Y. Shinkai et al.   GENES & DEVELOPMENT

The Musculoskeletal Manifestations of Prader-Willi Syndrome

(2011) Jong Sup Shim et al.   JOURNAL OF PEDIATRIC ORTHOPAEDICS

In adults with Prader–Willi syndrome, elevated ghrelin levels are more consistent with hyperphagia than high PYY and GLP-1 levels

(2011) Louise Purtell et al.   NEUROPEPTIDES

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

(2011) Manli Shen et al.   NUCLEIC ACIDS RESEARCH

Oxytocin may be useful to increase trust in others and decrease disruptive behaviours in patients with Prader-Willi syndrome: a randomised placebo-controlled trial in 24 patients

(2011) Maïthe Tauber et al.   Orphanet Journal of Rare Diseases

Transcription Is Required to Establish Maternal Imprinting at the Prader-Willi Syndrome and Angelman Syndrome Locus

(2011) Emily Y. Smith et al.   PLoS Genetics

Prader–Willi syndrome: sorting out the relationships between obesity, hypersomnia, and sleep apnea

(2010) Oliviero Bruni et al.   CURRENT OPINION IN PULMONARY MEDICINE

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

Endocrine Disorders in Children with Prader-Willi Syndrome – Data from 142 Children of the French Database

(2010) G. Diene et al.   Hormone Research in Paediatrics

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

(2010) Shivendra Kishore et al.   HUMAN MOLECULAR GENETICS

Long-Term Growth Hormone Therapy Changes the Natural History of Body Composition and Motor Function in Children with Prader-Willi Syndrome

(2010) Aaron L. Carrel et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Angelman Syndrome, a Genomic Imprinting Disorder of the Brain

(2010) S. J. Chamberlain et al.   JOURNAL OF NEUROSCIENCE

Decrease in acetylcholinergic neurons in the pedunculopontine tegmental nucleus in a patient with Prader-Willi syndrome

(2010) Masaharu Hayashi et al.   NEUROPATHOLOGY

Motor problems in Prader–Willi syndrome: A systematic review on body composition and neuromuscular functioning

(2010) Linda Reus et al.   NEUROSCIENCE AND BIOBEHAVIORAL REVIEWS

Highly parallel SNP genotyping reveals high-resolution landscape of mono-allelic Ube3a expression associated with locus-wide antisense transcription

(2010) Koji Numata et al.   NUCLEIC ACIDS RESEARCH

Human box C/D snoRNAs with miRNA like functions: expanding the range of regulatory RNAs

(2010) Markus Brameier et al.   NUCLEIC ACIDS RESEARCH

Health Supervision for Children With Prader-Willi Syndrome

(2010)   PEDIATRICS

Digital Genome-Wide ncRNA Expression, Including SnoRNAs, across 11 Human Tissues Using PolyA-Neutral Amplification

(2010) John C. Castle et al.   PLoS One

ZNF274 Recruits the Histone Methyltransferase SETDB1 to the 3′ Ends of ZNF Genes

(2010) Seth Frietze et al.   PLoS One

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

(2010) Stormy J. Chamberlain et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Hypogonadism in females with Prader–Willi syndrome from infancy to adulthood: variable combinations of a primary gonadal defect and hypothalamic dysfunction

(2009) Talia Eldar-Geva et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

Children with Prader–Willi syndrome exhibit more evident meal-induced responses in plasma ghrelin and peptide YY levels than obese and lean children

(2009) Carla Bizzarri et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

Expression of SNURF–SNRPN upstream transcripts and epigenetic regulatory genes during human spermatogenesis

(2009) Michaela Wawrzik et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

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

Long nuclear-retained non-coding RNAs and allele-specific higher-order chromatin organization at imprinted snoRNA gene arrays

(2009) P. Vitali et al.   JOURNAL OF CELL SCIENCE

Primary Testicular Dysfunction Is a Major Contributor to Abnormal Pubertal Development in Males with Prader-Willi Syndrome

(2009) Harry J. Hirsch et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Small RNAs derived from snoRNAs

(2009) R. J. Taft et al.   RNA

Review of 64 cases of death in children with Prader–Willi syndrome (PWS)

(2008) M. Tauber et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Long-acting octreotide treatment causes a sustained decrease in ghrelin concentrations but does not affect weight, behaviour and appetite in subjects with Prader–Willi syndrome

(2008) Kathleen De Waele et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

A paternal deletion of MKRN3, MAGEL2 and NDN does not result in Prader–Willi syndrome

(2008) Deniz Kanber et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

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

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

Recommendations for the Diagnosis and Management of Prader-Willi Syndrome

(2008) A. P. Goldstone et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

High Prevalence of Central Adrenal Insufficiency in Patients with Prader-Willi Syndrome

(2008) Roderick F. A. de Lind van Wijngaarden et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster

(2008) Trilochan Sahoo et al.   NATURE GENETICS

SmcHD1, containing a structural-maintenance-of-chromosomes hinge domain, has a critical role in X inactivation

(2008) Marnie E Blewitt et al.   NATURE GENETICS

Long-term enhancement of skeletal muscle mass and strength by single gene administration of myostatin inhibitors

(2008) A. M. Haidet et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Pituitary abnormalities in Prader–Willi syndrome and early onset morbid obesity

(2007) Jennifer L. Miller et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A