Large-scale analysis of variation in the insulin-like growth factor family in humans reveals rare disease links and common polymorphisms

Knockout! Knockout! Who’s Not There?

(2016) Robert P. Kruger   CELL

Evolution and Function of the Insulin and Insulin-like Signaling Network in Ectothermic Reptiles: Some Answers and More Questions

(2016) Tonia S. Schwartz et al.   INTEGRATIVE AND COMPARATIVE BIOLOGY

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

Patterns of genic intolerance of rare copy number variation in 59,898 human exomes

(2016) Douglas M Ruderfer et al.   NATURE GENETICS

ExAC boosts clinical variant interpretation in rare diseases

(2016) Orli G. Bahcall   NATURE REVIEWS GENETICS

The ExAC browser: displaying reference data information from over 60 000 exomes

(2016) Konrad J. Karczewski et al.   NUCLEIC ACIDS RESEARCH

Quantifying unobserved protein-coding variants in human populations provides a roadmap for large-scale sequencing projects

(2016) James Zou et al.   Nature Communications

Insulin-like growth factor binding proteins 4-6

(2015) Leon A. Bach   BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM

Soluble M6P/IGFIIR in the circulation

(2015) Carolyn D. Scott et al.   BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM

Insulin-like growth factor binding-protein-3 (IGFBP–3)

(2015) Michael B. Ranke   BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM

Physiology and pathophysiology of IGFBP-1 and IGFBP-2 – Consensus and dissent on metabolic control and malignant potential

(2015) Andreas Hoeflich et al.   BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM

Role of IGF-I signaling in muscle bone interactions

(2015) Daniel D. Bikle et al.   BONE

Small Amounts of Archaic Admixture Provide Big Insights into Human History

(2015) Selina Vattathil et al.   CELL

A New HomozygousIGF1RVariant Defines a Clinically Recognizable Incomplete Dominant form of SHORT Syndrome

(2015) Paolo Prontera et al.   HUMAN MUTATION

Novel heterozygous IGF1R mutation in two brothers with developing impaired glucose tolerance

(2015) Sebastian Burkhardt et al.   JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM

Short and tall stature: a new paradigm emerges

(2015) Jeffrey Baron et al.   Nature Reviews Endocrinology

Paternally Inherited IGF2 Mutation and Growth Restriction

(2015) Matthias Begemann et al.   NEW ENGLAND JOURNAL OF MEDICINE

Upper Palaeolithic genomes reveal deep roots of modern Eurasians

(2015) Eppie R. Jones et al.   Nature Communications

A Novel Homozygous Mutation of the IGFALS Gene in a Female Adolescent: Indirect Evidence for a Contributing Role of the Circulating IGF-I Pool in the Pubertal Growth Spurt

(2014) Thekla Poukoulidou et al.   Hormone Research in Paediatrics

Genetic Evaluation of Short Stature

(2014) Andrew Dauber et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

How IGF-1 activates its receptor

(2014) Jennifer M Kavran et al.   eLife

IGF2 and cancer

(2013) Callum Livingstone   ENDOCRINE-RELATED CANCER

A Novel Deletion ofIGF1in a Patient With Idiopathic Short Stature Provides Insight IntoIGF1Haploinsufficiency

(2013) Lara Batey et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Beckwith–Wiedemann and Russell–Silver Syndromes

(2013) Salah Azzi et al.   Current Opinion in Endocrinology Diabetes and Obesity

Genetics of Longevity in Model Organisms: Debates and Paradigm Shifts

(2012) David Gems et al.   Annual Review of Physiology

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

(2012) Marie-Hélène Gannagé-Yared et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

Identification of a Novel HeterozygousIGF1Splicing Mutation in a Large Kindred with Familial Short Stature

(2012) John S. Fuqua et al.   Hormone Research in Paediatrics

The decline and fall of the IGF-I receptor

(2012) Renato Baserga   JOURNAL OF CELLULAR PHYSIOLOGY

A new structural model of the acid-labile subunit: pathogenetic mechanisms of short stature-causing mutations

(2012) Alessia David et al.   JOURNAL OF MOLECULAR ENDOCRINOLOGY

IGF1 molecular anomalies demonstrate its critical role in fetal, postnatal growth and brain development

(2011) Irène Netchine et al.   BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM

IGF1R mutations as cause of SGA

(2011) J. Klammt et al.   BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM

Acid-labile subunit (ALS) deficiency

(2011) Horacio M. Domené et al.   BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM

Insulin receptor and cancer

(2011) A. Belfiore et al.   ENDOCRINE-RELATED CANCER

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

(2010) H. A. van Duyvenvoorde et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

The continuum of growth hormone-IGF-I axis defects causing short stature: diagnostic and therapeutic challenges

(2009) Martin O. Savage et al.   CLINICAL ENDOCRINOLOGY

Role of the GH/IGF-1 axis in lifespan and healthspan: Lessons from animal models

(2008) Darlene E. Berryman et al.   GROWTH HORMONE & IGF RESEARCH

New insulin-like growth factor (IGF)-precursor sequences from mammalian genomes: the molecular evolution of IGFs and associated peptides in primates

(2008) Michael Wallis   GROWTH HORMONE & IGF RESEARCH

Functionally significant insulin-like growth factor I receptor mutations in centenarians

(2008) Y. Suh et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA