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List of works by Sadaf Farooqi

20 years of leptin: human disorders of leptin action

scientific article published in October 2014

A Metabolomic Signature of Acute Caloric Restriction

scientific article published on 28 September 2017

A New Drug Target for Type 2 Diabetes.

scientific article published in June 2017

A Novel Thyrotropin-Releasing Hormone Receptor Missense Mutation (P81R) in Central Congenital Hypothyroidism.

scientific article published on 6 January 2016

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

scientific article published in February 2006

A Quantitative Trait Locus on Chromosome 18q for Physical Activity and Dietary Intake in Hispanic Children*

article

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

scientific article published in March 2018

A comparative study of risk factors for acute myocardial infarction amongst men of Indo-origin in Trinidad and the UK

scientific article published on 01 November 1994

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

scientific article

A frameshift mutation in MC4R associated with dominantly inherited human obesity ⬇️

scientific article published on October 1, 1998

A genome-wide association meta-analysis identifies new childhood obesity loci

scientific article

A homozygous mutation in the TUB gene associated with retinal dystrophy and obesity

scientific article

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

scientific article

A mutation in the thyroid hormone receptor alpha gene

scientific article published on 14 December 2011

A new highly penetrant form of obesity due to deletions on chromosome 16p11.2.

scientific article

A novel mutation in the leptin gene (W121X) in an Egyptian family.

scientific article

Abnormal haemorheology, endothelial function and thrombogenesis in relation to hypertension in acute (ictus < 12 h) stroke patients: the West Birmingham Stroke Project

scientific article published on 01 June 2001

Ambulatory blood pressure monitoring in acute stroke. The West Birmingham Stroke Project

scientific article

Amyotrophic lateral sclerosis and frontotemporal dementia: distinct and overlapping changes in eating behaviour and metabolism

scientific article published on 25 January 2016

Antidiabetic effects of IGFBP2, a leptin-regulated gene

scientific article published on January 2010

Assessment of Eating Behavior Disturbance and Associated Neural Networks in Frontotemporal Dementia

scientific article published on 25 January 2016

Bed sharing and smoking in the sudden infant death syndrome

scientific article published on January 1994

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

scientific article

CNS leptin action modulates immune response and survival in sepsis.

scientific article

CNV analysis in Tourette syndrome implicates large genomic rearrangements in COL8A1 and NRXN1.

scientific article

Characterization of human variants in obesity-related SIM1 protein identifies a hot-spot for dimerization with the partner protein ARNT2.

scientific article published in August 2014

Clinical and molecular consequences of disease-associated de novo mutations in SATB2.

scientific article

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

scientific article published on January 2007

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

scientific article (publication date: 20 March 2003)

Common variants near MC4R are associated with fat mass, weight and risk of obesity

scientific article

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

scientific article

Contribution of variants in the small heterodimer partner gene to birthweight, adiposity, and insulin levels: mutational analysis and association studies in multiple populations

scientific article

Crucial Role of the SH2B1 PH Domain for the Control of Energy Balance

scientific article published on 22 August 2019

Defining the neural basis of appetite and obesity: from genes to behaviour

scientific article

Disruption of the homeodomain transcription factor orthopedia homeobox (Otp) is associated with obesity and anxiety

scientific article

Distinct modulatory effects of satiety and sibutramine on brain responses to food images in humans: a double dissociation across hypothalamus, amygdala, and ventral striatum

scientific article

Does physical activity energy expenditure explain the between-individual variation in plasma leptin concentrations after adjusting for differences in body composition?

scientific article published on July 2003

Dominant and recessive inheritance of morbid obesity associated with melanocortin 4 receptor deficiency

scientific article published in July 2000

Dopamine modulates the neural representation of subjective value of food in hungry subjects

scientific article

EJE Prize 2012: Obesity: from genes to behaviour.

scientific article

Early childhood infection and atopic disorder

scientific article published on November 1998

Early nutrition and leptin concentrations in later life

scientific article published on 01 June 2002

Effects of recombinant leptin therapy in a child with congenital leptin deficiency.

scientific article

Energy expenditure in frontotemporal dementia: a behavioural and imaging study.

scientific article published on 27 October 2016

Ethnic differences in infant care practices and in the incidence of sudden infant death syndrome in Birmingham

scientific article published in September 1994

Ethnic differences in infant-rearing practices and their possible relationship to the incidence of sudden infant death syndrome (SIDS).

scientific article

Ethnic differences in sleeping position and in risk of cot death

scientific article published in December 1991

Evaluation of Prader-Willi Syndrome GeneMAGEL2in Severe Childhood-Onset Obesity

article

Failure of sucrose replacement with the non-nutritive sweetener erythritol to alter GLP-1 or PYY release or test meal size in lean or obese people.

scientific article published on 09 September 2016

Food images engage subliminal motivation to seek food

scientific article

Food reward system: current perspectives and future research needs

scientific article

Functional characterization and structural modeling of obesity associated mutations in the melanocortin 4 receptor.

scientific article published on 18 September 2008

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

scientific article published on 16 May 2006

Functional characterization of naturally occurring pathogenic mutations in the human leptin receptor

scientific article

Functional characterization of obesity-associated variants involving the α and β isoforms of human SH2B1

scientific article

GDF15 Provides an Endocrine Signal of Nutritional Stress in Mice and Humans

scientific article published on 10 January 2019

Genetic approaches to understanding human obesity.

scientific article

Genetic architecture of human thinness compared to severe obesity

scientific article published on 24 January 2019

Genetic strategies to understand physiological pathways regulating body weight

scientific article

Genetic variance in the spinocerebellar ataxia type 2 (ATXN2) gene in children with severe early onset obesity

scientific article

Genetic variation in the corticotrophin-releasing factor receptors: identification of single-nucleotide polymorphisms and association studies with obesity in UK Caucasians

scientific article published on 01 March 2004

Genetic, molecular and physiological insights into human obesity ⬇️

scientific article published on April 1, 2011

Genetic, molecular and physiological mechanisms involved in human obesity: Society for Endocrinology Medal Lecture 2012.

scientific article

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

scientific article published on 01 September 2006

High protein intake stimulates postprandial GLP1 and PYY release

scientific article published on 13 May 2013

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

scientific article published on 31 December 2010

Human Gain-of-Function MC4R Variants Show Signaling Bias and Protect against Obesity

article

Human MC4R variants affect endocytosis, trafficking and dimerization revealing multiple cellular mechanisms involved in weight regulation

scientific article published on 01 March 2021

Human SH2B1 mutations are associated with maladaptive behaviors and obesity

scientific article

Human SH2B1 mutations are associated withmaladaptive behaviors and obesity

scientific article published on 2 January 2013

Human Semaphorin 3 Variants Link Melanocortin Circuit Development and Energy Balance

scientific article published on 17 January 2019

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

scientific article

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

scientific article published on December 2006

Hypothalamic Reproductive Endocrine Pulse Generator Activity Independent of Neurokinin B and Dynorphin Signaling

scientific article published on 01 October 2019

Hypothalamic atrophy is related to body mass index and age at onset in amyotrophic lateral sclerosis.

scientific article

Iatrogenic chest pain: a case of 5-fluorouracil cardiotoxicity

scientific article published on December 1996

Increased body mass index is associated with specific regional alterations in brain structure

scientific article published on 22 March 2016

Influence of leptin on arterial distensibility: a novel link between obesity and cardiovascular disease?

scientific article published in October 2002

Insights from the genetics of severe childhood obesity

scientific article published on 10 December 2007

Insulin resistance, high prevalence of diabetes, and cardiovascular risk in immigrant Asians

scientific article published on June 1995

Is leptin an important physiological regulator of CRP?

scientific article published on 01 January 2007

KSR2 mutations are associated with obesity, insulin resistance, and impaired cellular fuel oxidation

scientific article

Leptin mediates the increase in blood pressure associated with obesity

scientific article

Leptin predicts a worsening of the features of the metabolic syndrome independently of obesity

scientific article published in August 2005

Leptin regulates peripheral lipid metabolism primarily through central effects on food intake

scientific article

Leptin regulates striatal regions and human eating behavior

scientific article published on 09 August 2007

Leptin substitution results in the induction of menstrual cycles in an adolescent with leptin deficiency and hypogonadotropic hypogonadism

scientific article published on 14 February 2012

Leptin therapy in a congenital leptin-deficient patient leads to acute and long-term changes in homeostatic, reward, and food-related brain areas

scientific article published on 18 May 2011

Lipid Metabolism and Survival Across the Frontotemporal Dementia-Amyotrophic Lateral Sclerosis Spectrum: Relationships to Eating Behavior and Cognition

scientific article published on 12 December 2017

Long-term stabilization effects of leptin on brain functions in a leptin-deficient patient

scientific article

Loss-of-function mutation in the dioxygenase-encoding FTO gene causes severe growth retardation and multiple malformations

scientific article published on 25 June 2009

Melanin-concentrating hormone receptor mutations and human obesity: functional analysis

scientific article

Melanocortin receptors as targets in the treatment of obesity

article by Daniel D Lam et al published 1 January 2007 in Current Topics in Medicinal Chemistry

Melanocortin-4 receptor signaling is required for weight loss after gastric bypass surgery

scientific article

Modulation of blood pressure by central melanocortinergic pathways

scientific article

Molecular Genetic Analysis of Normosmic Hypogonadotropic Hypogonadism in a Turkish Population: Identification and Detailed Functional Characterization of a Novel Mutation in the Gonadotropin-Releasing Hormone Receptor Gene

article

Molecular characterization of an interstitial deletion of 1p31.3 in a patient with obesity and psychiatric illness and a review of the literature

article

Mutation in human selenocysteine transfer RNA selectively disrupts selenoprotein synthesis

scientific article published on 8 February 2016

Mutational analysis of the serotonin receptor 5HT2c in severe early-onset human obesity.

scientific article

Mutations in the amino-terminal region of proopiomelanocortin (POMC) in patients with early-onset obesity impair POMC sorting to the regulated secretory pathway

scientific article published on 12 August 2008

Mutations in the human melanocortin-4 receptor gene associated with severe familial obesity disrupts receptor function through multiple molecular mechanisms

article

Neural and behavioral effects of a novel mu opioid receptor antagonist in binge-eating obese people

scientific article published on 14 December 2012

Neural deletion of Sh2b1 results in brain growth retardation and reactive aggression.

scientific article published on 27 November 2017

Neural networks associated with body composition in frontotemporal dementia

scientific article published on 28 August 2019

Novel FGF8 mutations associated with recessive holoprosencephaly, craniofacial defects, and hypothalamo-pituitary dysfunction

scientific article

OBEDIS Core Variables Project: European Expert Guidelines on a Minimal Core Set of Variables to Include in Randomized, Controlled Clinical Trials of Obesity Interventions

scientific article published on 16 January 2020

Obesity associated genetic variation in FTO is associated with diminished satiety

scientific article

Obesity associated with increased brain age from midlife

scientific article published on 27 July 2016

Obesity due to melanocortin 4 receptor (MC4R) deficiency is associated with increased linear growth and final height, fasting hyperinsulinemia, and incompletely suppressed growth hormone secretion

scientific article published on 3 November 2010

Obesity genes-it's all about the parents!

scientific article published in June 2009

Obesity-associated melanocortin-4 receptor mutations are associated with changes in the brain response to food cues

scientific article

Oral glutamine increases circulating glucagon-like peptide 1, glucagon, and insulin concentrations in lean, obese, and type 2 diabetic subjects

scientific article

Oxytocin administration suppresses hypothalamic activation in response to visual food cues

scientific article

Palmitic Acid Hydroxystearic Acids Activate GPR40, Which Is Involved in Their Beneficial Effects on Glucose Homeostasis.

scientific article published in February 2018

Partial leptin deficiency and human adiposity.

scientific article

Pediatric Obesity-Assessment, Treatment, and Prevention: An Endocrine Society Clinical Practice Guideline.

scientific article

Pharmacological Chaperones Restore Function to MC4R Mutants Responsible for Severe Early-Onset Obesity

scientific article published on 08 September 2010

Postprandial total ghrelin suppression is modulated by melanocortin signaling in humans

scientific article published on 11 January 2013

Prevalence and functionality of paucimorphic and privateMC4Rmutations in a large, unselected European British population, scanned by meltMADGE

article published in 2007

Prevalence of loss-of-function FTO mutations in lean and obese individuals

scientific article

Prevalence of melanocortin-4 receptor deficiency in Europeans and their age-dependent penetrance in multigenerational pedigrees.

scientific article published on 16 June 2008

Prolonged successful therapy for hyperinsulinaemic hypoglycaemia after gastric bypass: the pathophysiological role of GLP1 and its response to a somatostatin analogue

scientific article published on 9 March 2012

Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity

scientific article published on 22 December 2017

ProxECAT: Proxy External Controls Association Test. A new case-control gene region association test using allele frequencies from public controls

article

Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity

scientific article published on 16 March 2018

Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity

scientific article

Quantitative mass spectrometry for human melanocortin peptides in vitro and in vivo suggests prominent roles for β-MSH and desacetyl α-MSH in energy homeostasis

article

Rapid improvement of hepatic steatosis after initiation of leptin substitution in a leptin-deficient girl

scientific article published on 7 May 2013

Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation presenting in childhood

scientific article

Rare variants in single-minded 1 (SIM1) are associated with severe obesity

scientific article published on 17 June 2013

Rare variants in single-minded 1 (SIM1) areassociated with severe obesity.

scientific article published in August 2013

Resistance to thyroid hormone is associated with raised energy expenditure, muscle mitochondrial uncoupling, and hyperphagia

scientific article

Role of melanocortin signalling in the preference for dietary macronutrients in human beings

scientific article published on February 2015

Screening the human prepro-orexin gene in a single-centre narcolepsy cohort

scientific article published on 18 June 2007

Sequence variants in the melatonin-related receptor gene (GPR50) associate with circulating triglyceride and HDL levels

scientific article

Sequential alterations in haemorheology, endothelial dysfunction, platelet activation and thrombogenesis in relation to prognosis following acute stroke: The West Birmingham Stroke Project

scientific article published in June 2002

Serum ghrelin levels are inversely correlated with body mass index, age, and insulin concentrations in normal children and are markedly increased in Prader-Willi syndrome

scientific article published in January 2003

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

scientific article

Severe obesity and diabetes insipidus in a patient with PCSK1 deficiency

scientific article published on 17 April 2013

Six new loci associated with body mass index highlight a neuronal influence on body weight regulation

scientific article

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

scientific article

Somatic mutations in ATP1A1 and CACNA1D underlie a common subtype of adrenal hypertension.

scientific article

Steroid receptor coactivator-1 modulates the function of Pomc neurons and energy homeostasis

scientific article published on 12 April 2019

Studies of the SIM1 gene in relation to human obesity and obesity-related traits

scientific article published on 22 August 2006

Studies of the neuromedin U-2 receptor gene in human obesity: evidence for the existence of two ancestral forms of the receptor

scientific article published in October 2004

Studying food reward and motivation in humans

scientific article published on 19 March 2014

Sudden infant death syndrome among Asians in Britain

scientific article published on November 1994

TPIT mutations are associated with early-onset, but not late-onset isolated ACTH deficiency

scientific article published in October 2004

The CART gene and human obesity: mutational analysis and population genetics

scientific article

The Genetics of Obesity in Humans

scientific article

The Sleep/Wake Cycle is Directly Modulated by Changes in Energy Balance

scientific article published on 09 June 2016

The V103I polymorphism of the MC4R gene and obesity: population based studies and meta-analysis of 29 563 individuals

scientific article published on 13 March 2007

The central melanocortin system directly controls peripheral lipid metabolism

scientific article

The hunger genes: pathways to obesity

scientific article

The obesity-associated FTO gene encodes a 2-oxoglutarate-dependent nucleic acid demethylase

scientific article

The orphan G protein-coupled receptor GPR139 is activated by the peptides: Adrenocorticotropic hormone (ACTH), α-, and β-melanocyte stimulating hormone (α-MSH, and β-MSH), and the conserved core motif HFRW.

scientific article published on December 2016

Trappc9 deficiency causes parent-of-origin dependent microcephaly and obesity

scientific article published on 02 September 2020

Treating obesity: Does antagonism of NPY fit the bill?

Triple H syndrome: a novel autoimmune endocrinopathy characterized by dysfunction of the hippocampus, hair follicle, and hypothalamic-pituitary adrenal axis

scientific article published on 01 August 2000

Two novel missense mutations in g protein-coupled receptor 54 in a patient with hypogonadotropic hypogonadism.

scientific article published on 14 December 2004

Uncoupling protein 3 genetic variants in human obesity: the c-55t promoter polymorphism is negatively correlated with body mass index in a UK Caucasian population

scientific article published on 01 April 2001

WNT10B mutations in human obesity.

scientific article

Wired for obesity?

scientific article published in December 2014

ob gene mutations and human obesity

scientific article

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