Genetics of Obesity in Consanguineous Populations: Toward Precision Medicine and the Discovery of Novel Obesity Genes

Loss-of-function mutations in ADCY3 cause monogenic severe obesity

(2018) Sadia Saeed et al.   NATURE GENETICS

Recent progress in genetics, epigenetics and metagenomics unveils the pathophysiology of human obesity

(2016) M. Pigeyre et al.   CLINICAL SCIENCE

Novel Leptin Receptor Mutations Identified in Two Girls with Severe Obesity Are Associated with Increased Bone Mineral Density

(2016) Sabine E. Hannema et al.   Hormone Research in Paediatrics

Early Clinical Diagnosis of PC1/3 Deficiency in a Patient With a Novel Homozygous PCSK1 Splice-Site Mutation

(2016) Bettina Härter et al.   JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION

Hormone-Replacement Therapy for Melanocyte-Stimulating Hormone Deficiency

(2016) Marc L. Reitman   NEW ENGLAND JOURNAL OF MEDICINE

Proopiomelanocortin Deficiency Treated with a Melanocortin-4 Receptor Agonist

(2016) Peter Kühnen et al.   NEW ENGLAND JOURNAL OF MEDICINE

Hepatic adenylate cyclase 3 is upregulated by Liraglutide and subsequently plays a protective role in insulin resistance and obesity

(2016) Y Liang et al.   Nutrition & Diabetes

Genome-wide association analysis identifies three new susceptibility loci for childhood body mass index

(2015) Janine F. Felix et al.   HUMAN MOLECULAR GENETICS

Contribution of common non-synonymous variants in PCSK1 to body mass index variation and risk of obesity: a systematic review and meta-analysis with evidence from up to 331 175 individuals

(2015) K. T. Nead et al.   HUMAN MOLECULAR GENETICS

Alström Syndrome: Mutation Spectrum ofALMS1

(2015) Jan D. Marshall et al.   HUMAN MUTATION

A genome-wide association study of body mass index across early life and childhood

(2015) N. M. Warrington et al.   INTERNATIONAL JOURNAL OF EPIDEMIOLOGY

Severe Early-Onset Obesity Due to Bioinactive Leptin Caused by a p.N103K Mutation in the Leptin Gene

(2015) Martin Wabitsch et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Seven Novel DeleteriousLEPRMutations Found in Early-Onset Obesity: a ΔExon6–8 Shared by Subjects From Reunion Island, France, Suggests a Founder Effect

(2015) Hélène Huvenne et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Erratum: The phenotypic and molecular genetic spectrum of Alström syndrome in 44 Turkish kindreds and a literature review of Alström syndrome in Turkey

(2015) Ayşegül Ozantürk et al.   JOURNAL OF HUMAN GENETICS

Genetic studies of body mass index yield new insights for obesity biology

(2015) Adam E. Locke et al.   NATURE

Biologically Inactive Leptin and Early-Onset Extreme Obesity

(2015) Martin Wabitsch et al.   NEW ENGLAND JOURNAL OF MEDICINE

Genetic variants inLEP,LEPR, andMC4Rexplain 30% of severe obesity in children from a consanguineous population

(2015) Sadia Saeed et al.   Obesity

Truncating Homozygous Mutation of Carboxypeptidase E (CPE) in a Morbidly Obese Female with Type 2 Diabetes Mellitus, Intellectual Disability and Hypogonadotrophic Hypogonadism

(2015) Suzanne I. M. Alsters et al.   PLoS One

Using population isolates in genetic association studies

(2014) K. Hatzikotoulas et al.   Briefings in Functional Genomics

Mutation spectrum in BBS genes guided by homozygosity mapping in an Indian cohort

(2014) C. Sathya Priya et al.   CLINICAL GENETICS

Consanguinity in the Contemporary World

(2014) Giovanni Romeo et al.   HUMAN HEREDITY

Genome-wide association study of height-adjusted BMI in childhood identifies functional variant inADCY3

(2014) Evangelia Stergiakouli et al.   Obesity

A Novel Familial Mutation in the PCSK1 Gene That Alters the Oxyanion Hole Residue of Proprotein Convertase 1/3 and Impairs Its Enzymatic Activity

(2014) Michael Wilschanski et al.   PLoS One

A novel mutation of the leptin gene in an Indian patient

(2013) S. Thakur et al.   CLINICAL GENETICS

Congenital Proprotein Convertase 1/3 Deficiency Causes Malabsorptive Diarrhea and Other Endocrinopathies in a Pediatric Cohort

(2013) Martín G. Martín et al.   GASTROENTEROLOGY

The application of next-generation sequencing in the autozygosity mapping of human recessive diseases

(2013) Fowzan S. Alkuraya   HUMAN GENETICS

A Homozygous Mutation in theTUBGene Associated with Retinal Dystrophy and Obesity

(2013) Arundhati Dev Borman et al.   HUMAN MUTATION

The melanocortin system and insulin resistance in humans: insights from a patient with complete POMC deficiency and type 1 diabetes mellitus

(2013) I R Aslan et al.   INTERNATIONAL JOURNAL OF OBESITY

Consanguineous marriages and congenital anomalies

(2013) Alan H Bittles   LANCET

Risk factors for congenital anomaly in a multiethnic birth cohort: an analysis of the Born in Bradford study

(2013) Eamonn Sheridan et al.   LANCET

Severe obesity and diabetes insipidus in a patient with PCSK1 deficiency

(2013) Graeme R. Frank et al.   MOLECULAR GENETICS AND METABOLISM

A meta-analysis identifies new loci associated with body mass index in individuals of African ancestry

(2013) Keri L Monda et al.   NATURE GENETICS

Genome-wide SNP and CNV analysis identifies common and low-frequency variants associated with severe early-onset obesity

(2013) Eleanor Wheeler et al.   NATURE GENETICS

From obesity genetics to the future of personalized obesity therapy

(2013) Julia S. El-Sayed Moustafa et al.   Nature Reviews Endocrinology

Whole-Exome sequencing identifies novelLEPRmutations in individuals with severe early onset obesity

(2013) Richard Gill et al.   Obesity

NovelLEPRmutations in obese Pakistani children identified by PCR-based enrichment and next generation sequencing

(2013) Sadia Saeed et al.   Obesity

Obesity genomics: assessing the transferability of susceptibility loci across diverse populations

(2013) Yingchang Lu et al.   Genome Medicine

Homozygous Leptin Receptor Mutation Due to Uniparental Disomy of Chromosome 1: Response to Bariatric Surgery

(2012) Johanne Le Beyec et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

A case of early-onset obesity, hypocortisolism, and skin pigmentation problem due to a novel homozygous mutation in the proopiomelanocortin (POMC) gene in an Indian boy

(2012) Ching-Ngar Hung et al.   JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM

Homozygous deletion of an 80kb region comprising part of DNAJC6 and LEPR genes on chromosome 1P31.3 is associated with early onset obesity, mental retardation and epilepsy

(2012) Virginie Vauthier et al.   MOLECULAR GENETICS AND METABOLISM

High prevalence of leptin and melanocortin-4 receptor gene mutations in children with severe obesity from Pakistani consanguineous families

(2012) Sadia Saeed et al.   MOLECULAR GENETICS AND METABOLISM

Meta-analysis identifies common variants associated with body mass index in east Asians

(2012) Wanqing Wen et al.   NATURE GENETICS

Unraveling the brain regulation of appetite: lessons from genetics

(2012) Giles S H Yeo et al.   NATURE NEUROSCIENCE

Exome sequencing: Dual role as a discovery and diagnostic tool

(2011) Chee-Seng Ku et al.   ANNALS OF NEUROLOGY

Clan Genomics and the Complex Architecture of Human Disease

(2011) James R. Lupski et al.   CELL

Consanguineous marriages, pearls and perils: Geneva International Consanguinity Workshop Report

(2011) Hanan Hamamy et al.   GENETICS IN MEDICINE

Leptin deficiency andleptingene mutations in obese children from Pakistan

(2011) Warda Fatima et al.   International Journal of Pediatric Obesity

Homozygosity for two missense mutations in the leptin receptor gene (P316T;W646C) in a Turkmenian girl with severe early-onset obesity

(2011) Nesibe Andiran et al.   JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM

Homozygosity for a novel missense mutation in the leptin receptor gene (P316T) in two Egyptian cousins with severe early onset obesity

(2011) I. Mazen et al.   MOLECULAR GENETICS AND METABOLISM

Concerning epigenetics and inbreeding

(2011) Frank Johannes et al.   NATURE REVIEWS GENETICS

Ten years of leptin replacement therapy

(2011) G. Paz-Filho et al.   Obesity Reviews

Exome sequencing: the expert view

(2011) Leslie G Biesecker et al.   GENOME BIOLOGY

The consequences of consanguinity on the rates of malformations and major medical conditions at birth and in early childhood in inbred populations

(2010) Joël Zlotogora et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

High frequency of COH1 intragenic deletions and duplications detected by MLPA in patients with Cohen syndrome

(2010) Veronica Parri et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

A New Missense Mutation in the Leptin Gene Causes Mild Obesity and Hypogonadism without Affecting T Cell Responsiveness

(2010) Pamela Fischer-Posovszky et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Novel pharmacological MC4R agonists can efficiently activate mutated MC4R from obese patient with impaired endogenous agonist response

(2010) Pierre Roubert et al.   JOURNAL OF ENDOCRINOLOGY

Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index

(2010) Elizabeth K Speliotes et al.   NATURE GENETICS

Overexpression of Fto leads to increased food intake and results in obesity

(2010) Chris Church et al.   NATURE GENETICS

Two New Loci for Body-Weight Regulation Identified in a Joint Analysis of Genome-Wide Association Studies for Early-Onset Extreme Obesity in French and German Study Groups

(2010) André Scherag et al.   PLoS Genetics

A Genomewide Assessment of Inbreeding Depression: Gene Number, Function, and Mode of Action

(2009) JULIEN F. AYROLES et al.   CONSERVATION BIOLOGY

Functional characterization and pharmacological rescue of melanocortin-4 receptor mutations identified from obese patients

(2009) Zhen-Chuan Fan et al.   JOURNAL OF CELLULAR AND MOLECULAR MEDICINE

A novel homozygous missense mutation of the leptin gene (N103K) in an obese Egyptian patient

(2009) I. Mazen et al.   MOLECULAR GENETICS AND METABOLISM

Targeted capture and massively parallel sequencing of 12 human exomes

(2009) Sarah B. Ng et al.   NATURE

Genome-wide association study for early-onset and morbid adult obesity identifies three new risk loci in European populations

(2009) David Meyre et al.   NATURE GENETICS

The genetics of inbreeding depression

(2009) Deborah Charlesworth et al.   NATURE REVIEWS GENETICS

Leptin and the Control of Body Weight: A Review of Its Diverse Central Targets, Signaling Mechanisms, and Role in the Pathogenesis of Obesity

(2009) Ashwini Oswal et al.   Obesity

Consanguinity, human evolution, and complex diseases

(2009) A. H. Bittles et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Functional Characterization and Structural Modeling of Obesity Associated Mutations in the Melanocortin 4 Receptor

(2008) Karen Tan et al.   ENDOCRINOLOGY

Unexpected Endocrine Features and Normal Pigmentation in a Young Adult Patient Carrying a Novel Homozygous Mutation in the POMC Gene

(2008) Karine Clément et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

The Power of the Extreme in Elucidating Obesity

(2008) Philippe Froguel et al.   NEW ENGLAND JOURNAL OF MEDICINE

Consanguinity and its relevance to clinical genetics

(2003) AH Bittles   CLINICAL GENETICS