4.5 Review

Disorders of IGFs and IGF-1R signaling pathways

Related references

Note: Only part of the references are listed.
Meeting Abstract Endocrinology & Metabolism

Proposed criteria to guide the molecular study of the IGF-1 receptor gene (IGF1R)

Paula Plomer et al.

HORMONE RESEARCH IN PAEDIATRICS (2023)

Article Endocrinology & Metabolism

A Comprehensive Cohort Analysis Comparing Growth and GH Therapy Response in IGF1R Mutation Carriers and SGA Children

Eric Goepel et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2020)

Article Genetics & Heredity

Increasing knowledge in IGF1R defects: lessons from 35 new patients

Eloise Giabicani et al.

JOURNAL OF MEDICAL GENETICS (2020)

Review Endocrinology & Metabolism

The Role of MicroRNAs in Influencing Body Growth and Development

Francesca Cirillo et al.

HORMONE RESEARCH IN PAEDIATRICS (2020)

Article Biochemistry & Molecular Biology

How IGF-II Binds to the Human Type 1 Insulin-like Growth Factor Receptor

Yibin Xu et al.

STRUCTURE (2020)

Article Cell & Tissue Engineering

Insulin-like Growth Factor II: An Essential Adult Stem Cell Niche Constituent in Brain and Intestine

Amber N. Ziegler et al.

STEM CELL REPORTS (2019)

Article Endocrinology & Metabolism

A homozygous mutation in the highly conserved Tyr60 of the mature IGF1 peptide broadens the spectrum of IGF1 deficiency

Ana Claudia Keselman et al.

EUROPEAN JOURNAL OF ENDOCRINOLOGY (2019)

Article Multidisciplinary Sciences

Structural basis of the activation of type 1 insulin-like growth factor receptor

Jie Li et al.

NATURE COMMUNICATIONS (2019)

Article Endocrinology & Metabolism

A new p.(Ile66Serfs*93) IGF2 variant is associated with pre- and postnatal growth retardation

Denise Rockstroh et al.

EUROPEAN JOURNAL OF ENDOCRINOLOGY (2019)

Article Endocrinology & Metabolism

A homozygous mutation in the highly conserved Tyr60 of the mature IGF1 peptide broadens the spectrum of IGF1 deficiency

M. J. E. Walenkamp et al.

EUROPEAN JOURNAL OF ENDOCRINOLOGY (2019)

Review Endocrinology & Metabolism

Nonclassical GH Insensitivity: Characterization of Mild Abnormalities of GH Action

Helen L. Storr et al.

ENDOCRINE REVIEWS (2019)

Article Endocrinology & Metabolism

Phenotypic Features and Response to GH Treatment of Patients With a Molecular Defect of the IGF-1 Receptor

Marie J. E. Walenkamp et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2019)

Review Endocrinology & Metabolism

Update on new GH-IGF axis genetic defects

Gabriela A. Vasques et al.

ARCHIVES OF ENDOCRINOLOGY METABOLISM (2019)

Article Genetics & Heredity

Genetic disruption of the oncogenic HMGA2-PLAG1-IGF2 pathway causes fetal growth restriction

Walid Abi Habib et al.

GENETICS IN MEDICINE (2018)

Review Endocrinology & Metabolism

IGF-binding proteins

L. A. Bach

JOURNAL OF MOLECULAR ENDOCRINOLOGY (2018)

Article Endocrinology & Metabolism

Characterization of an activating R1353H insulin-like growth factor 1 receptor variant in a male with extreme tall height

Yingbo Lin et al.

EUROPEAN JOURNAL OF ENDOCRINOLOGY (2018)

Review Endocrinology & Metabolism

Insights and Implications of Genome-Wide Association Studies of Height

Michael H. Guo et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2018)

Review Endocrinology & Metabolism

Insulin-like growth factors: actions on the skeleton

Shoshana Yakar et al.

JOURNAL OF MOLECULAR ENDOCRINOLOGY (2018)

Article Multidisciplinary Sciences

IGFBPL1 Regulates Axon Growth through IGF-1-mediated Signaling Cascades

Chenying Guo et al.

SCIENTIFIC REPORTS (2018)

Article Oncology

Fetal growth is associated with the CpG methylation of the P2 promoter of the IGF1 gene

Catherine Le Stunff et al.

CLINICAL EPIGENETICS (2018)

Article Genetics & Heredity

Silver Russel syndrome in an aboriginal patient from Australia

Cathryn Poulton et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2018)

Article Endocrinology & Metabolism

Diagnosis and management of Silver-Russell syndrome: first international consensus statement

Emma L. Wakeling et al.

NATURE REVIEWS ENDOCRINOLOGY (2017)

Article Endocrinology & Metabolism

The Diagnostic Value of IGF-2 and the IGF/IGFBP-3 System in Silver-Russell Syndrome

Gerhard Binder et al.

HORMONE RESEARCH IN PAEDIATRICS (2017)

Article Biochemistry & Molecular Biology

SHORT syndrome due to a novel de novo mutation in PRKCE (Protein Kinase Cε) impairing TORC2-dependent AKT activation

Diana Alcantara et al.

HUMAN MOLECULAR GENETICS (2017)

Article Multidisciplinary Sciences

Rare and low-frequency coding variants alter human adult height

Eirini Marouli et al.

NATURE (2017)

Article Genetics & Heredity

De Novo Mutation of Paternal IGF2 Gene Causing Silver-Russell Syndrome in a Sporadic Patient

Deguo Liu et al.

FRONTIERS IN GENETICS (2017)

Article Endocrinology & Metabolism

A Loss-of-Function Splice Acceptor Variant in IGF2 Is Protective for Type 2 Diabetes

Josep M. Mercader et al.

DIABETES (2017)

Article Medicine, Research & Experimental

Mutations in pregnancy-associated plasma protein A2 cause short stature due to low IGF-I availability

Andrew Dauber et al.

EMBO MOLECULAR MEDICINE (2016)

Article Endocrinology & Metabolism

A Human Variant of Glucose-Regulated Protein 94 That Inefficiently Supports IGF Production

Michal Marzec et al.

ENDOCRINOLOGY (2016)

Article Genetics & Heredity

17p13.3 microduplication including CRK leads to overgrowth and elevated growth factors: A case report

Rohan K. Henry et al.

EUROPEAN JOURNAL OF MEDICAL GENETICS (2016)

Article Cell Biology

Current ideas on the biology of IGFBP-6: More than an IGF-II inhibitor?

Leon A. Bach

GROWTH HORMONE & IGF RESEARCH (2016)

Article Biochemistry & Molecular Biology

Insulin/receptor binding: The last piece of the puzzle?

Pierre De Meyts

BIOESSAYS (2015)

Article Endocrinology & Metabolism

STAT5B mutations in heterozygous state have negative impact on height: another clue in human stature heritability

Renata C. Scalco et al.

EUROPEAN JOURNAL OF ENDOCRINOLOGY (2015)

Review Endocrinology & Metabolism

Short and tall stature: a new paradigm emerges

Jeffrey Baron et al.

NATURE REVIEWS ENDOCRINOLOGY (2015)

Article Medicine, General & Internal

Paternally Inherited IGF2 Mutation and Growth Restriction

Matthias Begemann et al.

NEW ENGLAND JOURNAL OF MEDICINE (2015)

Article Biochemistry & Molecular Biology

Stanniocalcin-2 Inhibits Mammalian Growth by Proteolytic Inhibition of the Insulin-like Growth Factor Axis

Malene R. Jepsen et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2015)

Article Biochemistry & Molecular Biology

Genomic analysis of primordial dwarfism reveals novel disease genes

Ranad Shaheen et al.

GENOME RESEARCH (2014)

Article Endocrinology & Metabolism

A Novel Deletion of IGF1 in a Patient With Idiopathic Short Stature Provides Insight Into IGF1 Haploinsufficiency

Lara Batey et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2014)

Review Endocrinology & Metabolism

Beckwith-Wiedemann and Russell-Silver Syndromes: from new molecular insights to the comprehension of imprinting regulation

Salah Azzi et al.

CURRENT OPINION IN ENDOCRINOLOGY DIABETES AND OBESITY (2014)

Article Genetics & Heredity

PIK3R1 Mutations Cause Syndromic Insulin Resistance with Lipoatrophy

Christel Thauvin-Robinet et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2013)

Article Genetics & Heredity

Mutations in PIK3R1 Cause SHORT Syndrome

David A. Dyment et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2013)

Article Genetics & Heredity

SHORT Syndrome with Partial Lipodystrophy Due to Impaired Phosphatidylinositol 3 Kinase Signaling

Kishan Kumar Chudasama et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2013)

Article Endocrinology & Metabolism

Homozygous mutation of the IGF1 receptor gene in a patient with severe pre- and postnatal growth failure and congenital malformations

Marie-Helene Gannage-Yared et al.

EUROPEAN JOURNAL OF ENDOCRINOLOGY (2013)

Article Endocrinology & Metabolism

3-M syndrome: a growth disorder associated with IGF2 silencing

P. G. Murray et al.

ENDOCRINE CONNECTIONS (2013)

Article Endocrinology & Metabolism

Insulin-Like Growth Factor-1 Physiology: Lessons from Mouse Models

Shoshana Yakar et al.

ENDOCRINOLOGY AND METABOLISM CLINICS OF NORTH AMERICA (2012)

Article Endocrinology & Metabolism

IGF receptor gene variants in normal adolescents: effect on stature

Alvina R. Kansra et al.

EUROPEAN JOURNAL OF ENDOCRINOLOGY (2012)

Article Endocrinology & Metabolism

Identification of a Novel Heterozygous IGF1 Splicing Mutation in a Large Kindred with Familial Short Stature

John S. Fuqua et al.

HORMONE RESEARCH IN PAEDIATRICS (2012)

Article Endocrinology & Metabolism

Severe Short Stature Caused by Novel Compound Heterozygous Mutations of the Insulin-Like Growth Factor 1 Receptor (IGF1R)

Peng Fang et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2012)

Article Multidisciplinary Sciences

Sotos Syndrome Is Associated with Deregulation of the MAPK/ERK-Signaling Pathway

Remco Visser et al.

PLOS ONE (2012)

Article Biochemistry & Molecular Biology

IGFBP7 Binds to the IGF-1 Receptor and Blocks Its Activation by Insulin-Like Growth Factors

Valentina Evdokimova et al.

SCIENCE SIGNALING (2012)

Article Biochemistry & Molecular Biology

A genome-wide association study in 19 633 Japanese subjects identified LHX3-QSOX2 and IGF1 as adult height loci

Yukinori Okada et al.

HUMAN MOLECULAR GENETICS (2010)

Article Endocrinology & Metabolism

Short Stature Associated with a Novel Heterozygous Mutation in the Insulin-Like Growth Factor 1 Gene

H. A. van Duyvenvoorde et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2010)

Article Genetics & Heredity

Identification of 15 loci influencing height in a Korean population

Jae-Jung Kim et al.

JOURNAL OF HUMAN GENETICS (2010)

Article Genetics & Heredity

Deletion of YWHAE in a patient with periventricular heterotopias and pronounced corpus callosum hypoplasia

Cecile Mignon-Ravix et al.

JOURNAL OF MEDICAL GENETICS (2010)

Article Biochemistry & Molecular Biology

Serum complexes of insulin-like growth factor-1 modulate skeletal integrity and carbohydrate metabolism

Shoshana Yakar et al.

FASEB JOURNAL (2009)

Review Biochemistry & Molecular Biology

Keeping IGF-II under control: Lessons from the IGF-II-IGF2R crystal structure

James Brown et al.

TRENDS IN BIOCHEMICAL SCIENCES (2009)

Review Physiology

Insulin-like signaling, nutrient homeostasis, and life span

Akiko Taguchi et al.

ANNUAL REVIEW OF PHYSIOLOGY (2008)

Article Endocrinology & Metabolism

Homozygous and heterozygous expression of a novel mutation of the acid-labile subunit

H. A. van Duyvenvoorde et al.

EUROPEAN JOURNAL OF ENDOCRINOLOGY (2008)

Article Biochemistry & Molecular Biology

Comprehensive association analyses of IGF1, ESR2, and CYP17 genes with adult height in Caucasians

Tie-Lin Yang et al.

EUROPEAN JOURNAL OF HUMAN GENETICS (2008)

Article Endocrinology & Metabolism

Polymorphisms identified in the upstream core polyadenylation signal of IGF1 gene Exon 6 do not cause pre- and postnatal growth impairment

Debora C. Coutinho et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2007)

Article Genetics & Heredity

Tall stature and duplication of the insulin-like growth factor I receptor gene

S. G. Kant et al.

EUROPEAN JOURNAL OF MEDICAL GENETICS (2007)

Review Endocrinology & Metabolism

Endocrine regulation of human fetal growth: The role of the mother, placenta, and fetus

VE Murphy et al.

ENDOCRINE REVIEWS (2006)

Review Cell Biology

Critical nodes in signalling pathways: insights into insulin action

CM Taniguchi et al.

NATURE REVIEWS MOLECULAR CELL BIOLOGY (2006)

Review Biochemistry & Molecular Biology

Molecular interactions of the IGF system

A Denley et al.

CYTOKINE & GROWTH FACTOR REVIEWS (2005)

Article Biochemistry & Molecular Biology

Identification of a novel insulin-like growth factor binding protein gene homologue with tumor suppressor like properties

Z Cai et al.

BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS (2005)

Article Endocrinology & Metabolism

Homozygous and heterozygous expression of a novel insulin-like growth factor-I mutation

MJE Walenkamp et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2005)

Article Biochemistry & Molecular Biology

Mutational analysis of the interaction between insulin receptor, and IGF-I receptor with c-Crk and Crk-L in a yeast two-hybrid system

J Klammt et al.

BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS (2004)

Article Medicine, General & Internal

IGF-I receptor mutations resulting in intrauterine and postnatal growth retardation

MJ Abuzzahab et al.

NEW ENGLAND JOURNAL OF MEDICINE (2003)

Article Genetics & Heredity

A novel mutation in a patient with insulin-like growth factor 1 (IGF1) deficiency

G Bonapace et al.

JOURNAL OF MEDICAL GENETICS (2003)

Article Multidisciplinary Sciences

Placental-specific IGF-II is a major modulator of placental and fetal growth

M Constância et al.

NATURE (2002)

Article Biochemistry & Molecular Biology

Alanine scanning mutagenesis of a type 1 insulin-like growth factor receptor ligand binding site

J Whittaker et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2001)

Article Neurosciences

Delayed inner ear maturation and neuronal loss in postnatal Igf-1-deficient mice

G Camarero et al.

JOURNAL OF NEUROSCIENCE (2001)

Review Developmental Biology

Roles of growth hormone and insulin-like growth factor 1 in mouse postnatal growth

F Lupu et al.

DEVELOPMENTAL BIOLOGY (2001)

Review Biochemistry & Molecular Biology

Structure and function of the type 1 insulin-like growth factor receptor

TE Adams et al.

CELLULAR AND MOLECULAR LIFE SCIENCES (2000)

Article Multidisciplinary Sciences

Inactivation of the acid labile subunit gene in mice results in mild retardation of postnatal growth despite profound disruptions in the circulating insulin-like growth factor system

I Ueki et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2000)

Article Medicine, Research & Experimental

Transgenic mice overexpressing insulin-like growth factor-II in β cells develop type 2 diabetes

JC Devedjian et al.

JOURNAL OF CLINICAL INVESTIGATION (2000)