(Q37262319)

13 June 2018

review article

1 reference

title

Lessons from extreme human obesity: monogenic disorders (English)

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13 June 2018

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2

Christian Vaisse

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author name string

Sayali A Ranadive

series ordinal

1

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13 June 2018

language of work or name

1 reference

1 September 2008

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13 June 2018

Endocrinology and Metabolism Clinics of North America

published in

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13 June 2018

volume

37

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13 June 2018

issue

3

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13 June 2018

page(s)

733-51, x

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13 June 2018

Disruption of intraflagellar transport in adult mice leads to obesity and slow-onset cystic kidney disease

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26 June 2018

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Regulation of prohormone convertases in hypothalamic neurons: implications for prothyrotropin-releasing hormone and proopiomelanocortin

26 June 2018

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A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis

26 June 2018

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RAB23 mutations in Carpenter syndrome imply an unexpected role for hedgehog signaling in cranial-suture development and obesity

26 June 2018

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The hormonal control of food intake

26 June 2018

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Bardet-Biedl syndrome: beyond the cilium.

26 June 2018

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Medical sequencing at the extremes of human body mass

26 June 2018

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Clinical and molecular genetic spectrum of congenital deficiency of the leptin receptor

26 June 2018

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A role for Alström syndrome protein, alms1, in kidney ciliogenesis and cellular quiescence

26 June 2018

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Unraveling the genetics of human obesity

26 June 2018

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

26 June 2018

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Genetics of Obesity in Humans

26 June 2018

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The primary cilium as the cell's antenna: signaling at a sensory organelle

26 June 2018

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The role of the central melanocortin system in the regulation of food intake and energy homeostasis: lessons from mouse models

26 June 2018

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Sim1 haploinsufficiency impairs melanocortin-mediated anorexia and activation of paraventricular nucleus neurons

26 June 2018

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SIM1 overexpression partially rescues agouti yellow and diet-induced obesity by normalizing food intake.

26 June 2018

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Functional characterization of human NTRK2 mutations identified in patients with severe early-onset obesity.

26 June 2018

1 reference

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The melanocortin system and energy balance

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5877402

Mouse Rab23 regulates hedgehog signaling from smoothened to Gli proteins

26 June 2018

1 reference

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An incredible decade for the primary cilium: a look at a once-forgotten organelle

26 June 2018

1 reference

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Genetic and hereditary aspects of childhood obesity

26 June 2018

1 reference

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Anatomy and regulation of the central melanocortin system

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5877402

The genetics of human obesity

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5877402

Physiology of BDNF: focus on hypothalamic function

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5877402

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

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5877402

Congenital leptin deficiency due to homozygosity for the Delta133G mutation: report of another case and evaluation of response to four years of leptin therapy

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5877402

Insulin and its evolving partnership with leptin in the hypothalamic control of energy homeostasis

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5877402

Loss of BBS proteins causes anosmia in humans and defects in olfactory cilia structure and function in the mouse

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5877402

A genome-wide scan for childhood obesity-associated traits in French families shows significant linkage on chromosome 6q22.31-q23.2.

26 June 2018

1 reference

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Sim1 gene dosage modulates the homeostatic feeding response to increased dietary fat in mice

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5877402

Monogenic human obesity syndromes.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5877402

Small-intestinal dysfunction accompanies the complex endocrinopathy of human proprotein convertase 1 deficiency

26 June 2018

1 reference

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Rab23, a negative regulator of hedgehog signaling, localizes to the plasma membrane and the endocytic pathway

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5877402

Hedgehog signalling in the mouse requires intraflagellar transport proteins

26 June 2018

1 reference

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Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome

26 June 2018

1 reference

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Minireview: human obesity-lessons from monogenic disorders

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5877402

Brain-derived neurotrophic factor regulates energy balance downstream of melanocortin-4 receptor

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5877402

Trk receptors: roles in neuronal signal transduction

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5877402

Clinical spectrum of obesity and mutations in the melanocortin 4 receptor gene

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5877402

Beneficial effects of leptin on obesity, T cell hyporesponsiveness, and neuroendocrine/metabolic dysfunction of human congenital leptin deficiency.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5877402

Prevalence and trends in overweight among US children and adolescents, 1999-2000

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5877402

A missense mutation disrupting a dibasic prohormone processing site in pro-opiomelanocortin (POMC) increases susceptibility to early-onset obesity through a novel molecular mechanism

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5877402

Deletion of the SIM1 gene (6q16.2) in a patient with a Prader-Willi-like phenotype

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5877402

Neurotrophins: roles in neuronal development and function

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5877402

Rab23 is an essential negative regulator of the mouse Sonic hedgehog signalling pathway

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5877402

Sim1 haploinsufficiency causes hyperphagia, obesity and reduction of the paraventricular nucleus of the hypothalamus

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5877402

Genetics of body-weight regulation

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5877402

BDNF regulates eating behavior and locomotor activity in mice

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5877402

Interstitial 6q deletion with a Prader-Willi-like phenotype: a new case and review of the literature

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5877402

Brain-derived neurotrophic factor-deficient mice develop aggressiveness and hyperphagia in conjunction with brain serotonergic abnormalities

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5877402

Profound obesity associated with a balanced translocation that disrupts the SIM1 gene

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5877402

Leptin and the regulation of body weight in mammals

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5877402

Development of neuroendocrine lineages requires the bHLH-PAS transcription factor SIM1.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5877402

A frameshift mutation in human MC4R is associated with a dominant form of obesity

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5877402

A frameshift mutation in MC4R associated with dominantly inherited human obesity

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5877402

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

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5877402

A mutation in the human leptin receptor gene causes obesity and pituitary dysfunction

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5877402

Obesity and impaired prohormone processing associated with mutations in the human prohormone convertase 1 gene

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5877402

Congenital leptin deficiency is associated with severe early-onset obesity in humans

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5877402

Proteolytic processing mechanisms in the biosynthesis of neuroendocrine peptides: the subtilisin-like proprotein convertases.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5877402

De novo interstitial deletion q16.2q21 on chromosome 6.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5877402

Brief report: impaired processing of prohormones associated with abnormalities of glucose homeostasis and adrenal function

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5877402

Hyperphagia and early-onset obesity due to a novel homozygous missense mutation in prohormone convertase 1/3.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5877402

Melanocortin 4 receptor mutations in obese Czech children: studies of prevalence, phenotype development, weight reduction response, and functional analysis

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5877402

Homozygous null mutation of the melanocortin-4 receptor and severe early-onset obesity

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5877402

Several mutations in the melanocortin 4 receptor gene are associated with obesity in Chinese children and adolescents.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5877402

Melanocortin 4 receptor mutations in a large cohort of severely obese adults: prevalence, functional classification, genotype-phenotype relationship, and lack of association with binge eating

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5877402

A role for beta-melanocyte-stimulating hormone in human body-weight regulation

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5877402

A POMC variant implicates beta-melanocyte-stimulating hormone in the control of human energy balance

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5877402

Prevalence of melanocortin 4 receptor (MC4R) mutations and polymorphismsin consecutively ascertained obese children and adolescents from a pediatric health care utilization population

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5877402

A homozygous null mutation delineates the role of the melanocortin-4 receptor in humans.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5877402

Obesity due to proopiomelanocortin deficiency: three new cases and treatment trials with thyroid hormone and ACTH4-10.

3 September 2018

1 reference

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Partial leptin deficiency and human adiposity.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5877402

Conditional deletion of brain-derived neurotrophic factor in the postnatal brain leads to obesity and hyperactivity

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5877402

Soluble leptin receptor in serum of subjects with complete resistance to leptin: relation to fat mass.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5877402

Situs inversus and hirschsprung disease: two uncommon manifestations in Bardet-Biedl syndrome.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5877402

Recombinant leptin for weight loss in obese and lean adults: a randomized, controlled, dose-escalation trial

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5877402

A leptin missense mutation associated with hypogonadism and morbid obesity.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5877402

Characteristics of BDNF-induced weight loss.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5877402

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

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5877402

Energy metabolism in Bardet–Biedl syndrome

3 December 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18775361

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.ECL.2008.07.003

1 reference

13 June 2018

PMC publication ID

5877402

1 reference

13 June 2018

PubMed publication ID

18775361

1 reference

13 June 2018