Rai1 haploinsufficiency causes reduced Bdnf expression resulting in hyperphagia, obesity and altered fat distribution in mice and humans with no evidence of metabolic syndrome (Q42955370)

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scientific article published on 27 July 2010

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English	Rai1 haploinsufficiency causes reduced Bdnf expression resulting in hyperphagia, obesity and altered fat distribution in mice and humans with no evidence of metabolic syndrome	scientific article published on 27 July 2010

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scholarly article

1 reference

Europe PubMed Central

11 November 2017

Rai1 haploinsufficiency causes reduced Bdnf expression resulting in hyperphagia, obesity and altered fat distribution in mice and humans with no evidence of metabolic syndrome (English)

1 reference

Europe PubMed Central

11 November 2017

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haploinsufficiency

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metabolic syndrome

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based on heuristic

inferred from title

Stephen R Williams

object named as

Stephen R Williams

3

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author name string

Brooke Burns

1

1 reference

Europe PubMed Central

11 November 2017

Kristie Schmidt

2

1 reference

Europe PubMed Central

11 November 2017

Sun Kim

4

1 reference

Europe PubMed Central

11 November 2017

Santhosh Girirajan

5

1 reference

Europe PubMed Central

11 November 2017

Sarah H Elsea

6

1 reference

Europe PubMed Central

11 November 2017

publication date

27 July 2010

1 reference

Europe PubMed Central

11 November 2017

Human Molecular Genetics

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Europe PubMed Central

11 November 2017

19

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Europe PubMed Central

11 November 2017

4026-4042

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Europe PubMed Central

11 November 2017

20

1 reference

Europe PubMed Central

11 November 2017

Mutations in RAI1 associated with Smith-Magenis syndrome.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ317

21 January 2018

Refinement of the Smith-Magenis syndrome critical region to approximately 950kb and assessment of 17p11.2 deletions. Are all deletions created equally?

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ317

21 January 2018

Smith-Magenis syndrome

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ317

21 January 2018

Multi-disciplinary clinical study of Smith-Magenis syndrome (deletion 17p11.2)

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ317

21 January 2018

Hypercholesterolemia in children with Smith-Magenis syndrome: del (17) (p11.2p11.2).

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ317

21 January 2018

Inactivation of Rai1 in mice recapitulates phenotypes observed in chromosome engineered mouse models for Smith-Magenis syndrome

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ317

21 January 2018

Rai1 deficiency in mice causes learning impairment and motor dysfunction, whereas Rai1 heterozygous mice display minimal behavioral phenotypes.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ317

21 January 2018

Penetrance of craniofacial anomalies in mouse models of Smith-Magenis syndrome is modified by genomic sequence surrounding Rai1: not all null alleles are alike

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ317

21 January 2018

Behavioral characterization of mouse models for Smith-Magenis syndrome and dup(17)(p11.2p11.2).

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ317

21 January 2018

Leptin resistance contributes to obesity and hypertension in mouse models of Bardet-Biedl syndrome

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ317

21 January 2018

Obesity, hyperphagia and increased metabolic efficiency in Pc1 mutant mice.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ317

21 January 2018

Selective deletion of Bdnf in the ventromedial and dorsomedial hypothalamus of adult mice results in hyperphagic behavior and obesity.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ317

21 January 2018

Molecular cloning and characterization of human RAI1, a gene associated with schizophrenia.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ317

21 January 2018

RAI1 is a novel polyglutamine encoding gene that is deleted in Smith-Magenis syndrome patients

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ317

21 January 2018

How much is too much? Phenotypic consequences of Rai1 overexpression in mice

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ317

21 January 2018

A functional network module for Smith-Magenis syndrome

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ317

21 January 2018

Gene-network analysis identifies susceptibility genes related to glycobiology in autism

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ317

21 January 2018

The ePHD protein SPBP interacts with TopBP1 and together they co-operate to stimulate Ets1-mediated transcription

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ317

21 January 2018

Gender, genotype, and phenotype differences in Smith-Magenis syndrome: a meta-analysis of 105 cases.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ317

21 January 2018

Endocrine controls of eating: CCK, leptin, and ghrelin

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ317

21 January 2018

Leptin modulation of peripheral controls of meal size

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ317

21 January 2018

Leptin suppresses ghrelin-induced activation of neuropeptide Y neurons in the arcuate nucleus via phosphatidylinositol 3-kinase- and phosphodiesterase 3-mediated pathway.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ317

21 January 2018

Ghrelin increases neuropeptide Y and agouti-related peptide gene expression in the arcuate nucleus in rat hypothalamic organotypic cultures.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ317

21 January 2018

Modest overexpression of neuropeptide Y in the brain leads to obesity after high-sucrose feeding

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ317

21 January 2018

Role of dorsomedial hypothalamic neuropeptide Y in modulating food intake and energy balance

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ317

21 January 2018

Neuropeptide Y deficiency attenuates responses to fasting and high-fat diet in obesity-prone mice.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ317

21 January 2018

Attenuation of the obesity syndrome of ob/ob mice by the loss of neuropeptide Y.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ317

21 January 2018

Expression profiling of Huntington's disease models suggests that brain-derived neurotrophic factor depletion plays a major role in striatal degeneration

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ317

21 January 2018

Variation in brain-derived neurotrophic factor (BDNF) gene is associated with symptoms of depression

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ317

21 January 2018

BDNF in schizophrenia, depression and corresponding animal models

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ317

21 January 2018

A large case-control study of common functional SLC6A4 and BDNF variants in obsessive-compulsive disorder.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ317

21 January 2018

Meta-analysis reveals no association of the Val66Met polymorphism of brain-derived neurotrophic factor with either schizophrenia or bipolar disorder

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ317

21 January 2018

BDNF gene is a risk factor for schizophrenia in a Scottish population.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ317

21 January 2018

The role of the brain-derived neurotrophic factor (BDNF) val66met variant in the phenotypic expression of obsessive-compulsive disorder (OCD).

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ317

21 January 2018

Hyperphagia, severe obesity, impaired cognitive function, and hyperactivity associated with functional loss of one copy of the brain-derived neurotrophic factor (BDNF) gene

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ317

21 January 2018

Proopiomelanocortin and energy balance: insights from human and murine genetics

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ317

21 January 2018

Severe early-onset obesity, adrenal insufficiency and red hair pigmentation caused by POMC mutations in humans

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ317

21 January 2018

Targeted disruption of the melanocortin-4 receptor results in obesity in mice

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ317

21 January 2018

Gut hormone PYY(3-36) physiologically inhibits food intake

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ317

21 January 2018

Mice lacking inhibitory leptin receptor signals are lean with normal endocrine function

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ317

21 January 2018

Influence of serum leptin on weight and body fat growth in children at high risk for adult obesity

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ317

21 January 2018

Molecular and anatomical determinants of central leptin resistance

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ317

21 January 2018

Association of adiponectin mutation with type 2 diabetes: a candidate gene for the insulin resistance syndrome

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ317

21 January 2018

Plasma concentrations of a novel, adipose-specific protein, adiponectin, in type 2 diabetic patients.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ317

21 January 2018

Paradoxical decrease of an adipose-specific protein, adiponectin, in obesity

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ317

21 January 2018

Hypertension and disrupted blood pressure circadian rhythm in type 2 diabetic db/db mice

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ317

21 January 2018

Circadian rhythm of blood pressure is transformed from a dipper to a non-dipper pattern in shift workers with hypertension.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ317

21 January 2018

Circadian rhythm disorder in a rare disease: Smith-Magenis syndrome

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ317

21 January 2018

Genotype-phenotype correlation in Smith-Magenis syndrome: evidence that multiple genes in 17p11.2 contribute to the clinical spectrum

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ317

21 January 2018

RAI1 variations in Smith-Magenis syndrome patients without 17p11.2 deletions

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ317

21 January 2018

Mice lacking pro-opiomelanocortin are sensitive to high-fat feeding but respond normally to the acute anorectic effects of peptide-YY(3-36).

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ317

21 January 2018

Diet-induced obesity causes severe but reversible leptin resistance in arcuate melanocortin neurons

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ317

21 January 2018

Expression of Wnt9b and activation of canonical Wnt signaling during midfacial morphogenesis in mice

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ317

21 January 2018

Hypertriglyceridemia in lecithin-cholesterol acyltransferase-deficient mice is associated with hepatic overproduction of triglycerides, increased lipogenesis, and improved glucose tolerance.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ317

21 January 2018

TCF7L2 controls insulin gene expression and insulin secretion in mature pancreatic beta-cells

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ317

21 January 2018

TCF7L2 polymorphisms and progression to diabetes in the Diabetes Prevention Program

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ317

21 January 2018

A threshold requirement for Gbx2 levels in hindbrain development

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ317

21 January 2018

Association of the BDNF Val66Met variation with obesity in women.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ317

21 January 2018

The role of the leptin-melanocortin signalling pathway in the control of food intake

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ317

21 January 2018

Serotonin transporter function is modulated by brain-derived neurotrophic factor (BDNF) but not nerve growth factor (NGF).

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ317

21 January 2018

Neurotrophins, synaptic plasticity and dementia

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ317

21 January 2018

Altered brain-derived neurotrophic factor blood levels and gene variability are associated with anorexia and bulimia.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ317

21 January 2018

Brain-derived neurotrophic factor in neurodegenerative diseases

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ317

21 January 2018

Decreased serum BDNF levels in chronic institutionalized schizophrenia on long-term treatment with typical and atypical antipsychotics

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ317

21 January 2018

Serum levels of brain-derived neurotrophic factor in drug-naïve obsessive-compulsive patients: a case-control study

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ317

21 January 2018

A DRD4/BDNF gene-gene interaction associated with maximum BMI in women with bulimia nervosa

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ317

21 January 2018

A de novo mutation affecting human TrkB associated with severe obesity and developmental delay

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ317

21 January 2018

Brain-derived neurotrophic factor and obesity in the WAGR syndrome

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ317

21 January 2018

Heterozygosity for aPOMC-Null Mutation and Increased Obesity Risk in Humans

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ317

21 January 2018

Intravenous CCK-8, but not GLP-1, suppresses ghrelin and stimulates PYY release in healthy men

1 reference

https://pubmed.ncbi.nlm.nih.gov/20663924

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A leptin dose-response study in obese (ob/ob) and lean (+/?) mice

1 reference

https://pubmed.ncbi.nlm.nih.gov/20663924

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Proopiomelanocortin-derived peptides

1 reference

https://pubmed.ncbi.nlm.nih.gov/20663924

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Association of hypoadiponectinemia with coronary artery disease in men

1 reference

https://pubmed.ncbi.nlm.nih.gov/20663924

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Sex differences in the relation of visceral adipose tissue accumulation to total body fatness

1 reference

https://pubmed.ncbi.nlm.nih.gov/20663924

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1093/HMG/DDQ317

1 reference

Europe PubMed Central

11 November 2017

1 reference

Europe PubMed Central

11 November 2017

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