相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。Proposed criteria to guide the molecular study of the IGF-1 receptor gene (IGF1R)
Paula Plomer et al.
HORMONE RESEARCH IN PAEDIATRICS (2023)
Report of Five Cases, Review of the Literature, and Comparison with H19/IGF2:IG-DMR Epimutations
Yohei Masunaga et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2020)
Human signal transducer and activator of transcription 5b (STAT5b) mutation causes dysregulated human natural killer cell maturation and impaired lytic function
Alexander Vargas-Hernandez et al.
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY (2020)
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)
Increasing knowledge in IGF1R defects: lessons from 35 new patients
Eloise Giabicani et al.
JOURNAL OF MEDICAL GENETICS (2020)
Pre- and postnatal growth failure with microcephaly due to two novel heterozygous IGF1R mutations and response to growth hormone treatment
Alexandra Gkourogianni et al.
ACTA PAEDIATRICA (2020)
Pathogenic/likely pathogenic variants in the SHOX, GHR and IGFALS genes among Indian children with idiopathic short stature
Anil Kumar et al.
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM (2020)
Targeted Searches of the Electronic Health Record and Genomics Identify an Etiology in Three Patients with Short Stature and High IGF-I Levels
Catalina Cabrera-Salcedo et al.
HORMONE RESEARCH IN PAEDIATRICS (2020)
Signal transducer and activator of transcription 5B deficiency due to a novel missense mutation in the coiled-coil domain
Meghan J. Acres et al.
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY (2019)
High Prevalence of Growth Plate Gene Variants in Children With Familial Short Stature Treated With GH
Lukas Plachy et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2019)
Novel mutation of type-1 insulin-like growth factor receptor (IGF-1R) gene in a severe short stature pedigree identified by targeted next-generation sequencing
Yu Yang et al.
JOURNAL OF GENETICS (2019)
A Novel Homozygous Mutation of the Acid-Labile Subunit (IGFALS) Gene in a Male Adolescent
Sukran Poyrazoglu et al.
JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY (2019)
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)
ALS deficiency caused by an exon 2 deletion and a novel missense variant in the gene encoding ALS
Gonzalo Dominguez-Menendez et al.
GROWTH HORMONE & IGF RESEARCH (2019)
Mutations at hypothetical binding site 2 in insulin and insulin-like growth factors 1 and 2 result in receptor- and hormone-specific responses
Katerina Machackova et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2019)
A new p.(Ile66Serfs*93) IGF2 variant is associated with pre- and postnatal growth retardation
Denise Rockstroh et al.
EUROPEAN JOURNAL OF ENDOCRINOLOGY (2019)
Low IGF-I Bioavailability Impairs Growth and Glucose Metabolism in a Mouse Model of Human PAPPA2 p.Ala1033Val Mutation
Masanobu Fujimoto et al.
ENDOCRINOLOGY (2019)
Nonclassical GH Insensitivity: Characterization of Mild Abnormalities of GH Action
Helen L. Storr et al.
ENDOCRINE REVIEWS (2019)
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)
Genetic disruption of the oncogenic HMGA2-PLAG1-IGF2 pathway causes fetal growth restriction
Walid Abi Habib et al.
GENETICS IN MEDICINE (2018)
STAT5B: A Differential Regulator of the Life and Death of CD4+ Effector Memory T Cells
Sonia S. Majri et al.
JOURNAL OF IMMUNOLOGY (2018)
Letter to the Editor: History and clinical implications of PAPP-A2 in human growth: When reflecting on idiopathic short stature leads to a specific and new diagnosis Understanding the concept of low IGF-I availability
Jesus Argente et al.
GROWTH HORMONE & IGF RESEARCH (2018)
rhIGF-1 Treatment Increases Bone Mineral Density and Trabecular Bone Structure in Children with PAPP-A2 Deficiency
Federico G. Hawkins-Carranza et al.
HORMONE RESEARCH IN PAEDIATRICS (2018)
IGF1R Variants in Patients With Growth Impairment: Four Novel Variants and Genotype-Phenotype Correlations
Lin Yang et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2018)
Dominant-negative STAT5B mutations cause growth hormone insensitivity with short stature and mild immune dysregulation
Juergen Klammt et al.
NATURE COMMUNICATIONS (2018)
Silver Russel syndrome in an aboriginal patient from Australia
Cathryn Poulton et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2018)
Diagnosis and management of Silver-Russell syndrome: first international consensus statement
Emma L. Wakeling et al.
NATURE REVIEWS ENDOCRINOLOGY (2017)
Clinical and biochemical characteristics and bone mineral density of homozygous, compound heterozygous and heterozygous carriers of three novel IGFALS mutations
Emregul Isik et al.
EUROPEAN JOURNAL OF ENDOCRINOLOGY (2017)
Expanding Genetic and Functional Diagnoses of IGF1R Haploinsufficiencies
Paula Ocaranza et al.
HORMONE RESEARCH IN PAEDIATRICS (2017)
De novo IGF2 mutation on the paternal allele in a patient with Silver-Russell syndrome and ectrodactyly
Kaori Yamoto et al.
HUMAN MUTATION (2017)
Pharmacokinetics of IGF-1 in PAPP-A2-Deficient Patients, Growth Response, and Effects on Glucose and Bone Density
Catalina Cabrera-Salcedo et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2017)
Paracoccidioidomycosis Associated With a Heterozygous STAT4 Mutation and Impaired IFN-γ Immunity
Lena F. Schimke et al.
JOURNAL OF INFECTIOUS DISEASES (2017)
Targeted Next Generation Sequencing Approach in Patients Referred for Silver-Russell Syndrome Testing Increases the Mutation Detection Rate and Provides Decisive Information for Clinical Management
Robert Meyer et al.
JOURNAL OF PEDIATRICS (2017)
De Novo Mutation of Paternal IGF2 Gene Causing Silver-Russell Syndrome in a Sporadic Patient
Deguo Liu et al.
FRONTIERS IN GENETICS (2017)
A novel heterozygous IGF-1 receptor mutation associated with hypoglycemia
R. Solomon-Zemler et al.
ENDOCRINE CONNECTIONS (2017)
Characterization of four Latin American families confirms previous findings and reveals novel features of acid-labile subunit deficiency
Paula A. Scaglia et al.
CLINICAL ENDOCRINOLOGY (2017)
Novel Dominant-Negative GH Receptor Mutations Expands the Spectrum of GHI and IGF-I Deficiency
Kanimozhi Vairamani et al.
JOURNAL OF THE ENDOCRINE SOCIETY (2017)
A novel dominant negative mutation in the intracellular domain of GHR is associated with growth hormone insensitivity
Masaki Takagi et al.
CLINICAL ENDOCRINOLOGY (2016)
Mutations in pregnancy-associated plasma protein A2 cause short stature due to low IGF-I availability
Andrew Dauber et al.
EMBO MOLECULAR MEDICINE (2016)
STAT5B deficiency: Impacts on human growth and immunity
Vivian Hwa
GROWTH HORMONE & IGF RESEARCH (2016)
Treatment With Recombinant Human Insulin-Like Growth Factor-1 Improves Growth in Patients With PAPP-A2 Deficiency
Maria T. Munoz-Calvo et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2016)
A New Homozygous IGF1R Variant Defines a Clinically Recognizable Incomplete Dominant form of SHORT Syndrome
Paolo Prontera et al.
HUMAN MUTATION (2015)
Long-Term Follow-up of STAT5B Deficiency in Three Argentinian Patients: Clinical and Immunological Features
Liliana Bezrodnik et al.
JOURNAL OF CLINICAL IMMUNOLOGY (2015)
Paternally Inherited IGF2 Mutation and Growth Restriction
Matthias Begemann et al.
NEW ENGLAND JOURNAL OF MEDICINE (2015)
Structural Congruency of Ligand Binding to the Insulin and Insulin/Type 1 Insulin-like Growth Factor Hybrid Receptors
John G. Menting et al.
STRUCTURE (2015)
Activating STAT6 mutations in follicular lymphoma
Mehmet Yildiz et al.
BLOOD (2015)
Genetic characterisation of a cohort of children clinically labelled as GH or IGF1 insensitive: diagnostic value of serum IGF1 and height at presentation
Helen L. Storr et al.
EUROPEAN JOURNAL OF ENDOCRINOLOGY (2015)
The E180splice Mutation in the GHR Gene Causing Laron Syndrome: Witness of a Sephardic Jewish Exodus from the Iberian Peninsula to the New World?
Fernanda T. Goncalves et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2014)
Genomic analysis of primordial dwarfism reveals novel disease genes
Ranad Shaheen et al.
GENOME RESEARCH (2014)
Clinical Features of a New Acid-Labile Subunit (IGFALS) Heterozygous Mutation: Anthropometric and Biochemical Characterization and Response to Growth Hormone Administration
Anna Grandone et al.
HORMONE RESEARCH IN PAEDIATRICS (2014)
IGFALS Gene Dosage Effects on Serum IGF-I and Glucose Metabolism, Body Composition, Bone Growth in Length and Width, and the Pharmacokinetics of Recombinant Human IGF-I Administration
Wolfgang Hoegler et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2014)
A Novel Variant in CDKN1C Is Associated With Intrauterine Growth Restriction, Short Stature, and Early-Adulthood-Onset Diabetes
Sarah L. Kerns et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2014)
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)
Mechanism of Activation of Protein Kinase JAK2 by the Growth Hormone Receptor
Andrew J. Brooks et al.
SCIENCE (2014)
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)
Heterozygous IGFALS Gene Variants in Idiopathic Short Stature and Normal Children: Impact on Height and the IGF System
Horacio M. Domene et al.
HORMONE RESEARCH IN PAEDIATRICS (2013)
Severe Growth Deficiency is Associated with STAT5b Mutations that Disrupt Protein Folding and Activity
Benjamin Varco-Merth et al.
MOLECULAR ENDOCRINOLOGY (2013)
MECHANISMS OF DISEASE JAKs and STATs in Immunity, Immunodeficiency, and Cancer
John J. O'Shea et al.
NEW ENGLAND JOURNAL OF MEDICINE (2013)
STAT2 deficiency and susceptibility to viral illness in humans
Sophie Hambleton et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2013)
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)
Inborn Errors of Human JAKs and STATs
Jean-Laurent Casanova et al.
IMMUNITY (2012)
A Novel Missense Mutation in the SH2 Domain of the STAT5B Gene Results in a Transcriptionally Inactive STAT5b Associated with Severe IGF-I Deficiency, Immune Dysfunction, and Lack of Pulmonary Disease
Paula A. Scaglia et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2012)
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)
A new structural model of the acid-labile subunit: pathogenetic mechanisms of short stature-causing mutations
Alessia David et al.
JOURNAL OF MOLECULAR ENDOCRINOLOGY (2012)
Clinical and Functional Characterization of a Patient Carrying a Compound Heterozygous Pericentrin Mutation and a Heterozygous IGF1 Receptor Mutation
Eva Mueller et al.
PLOS ONE (2012)
IGF1R mutations as cause of SGA
J. Klammt et al.
BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM (2011)
Acid-labile subunit (ALS) deficiency
Horacio M. Domene et al.
BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM (2011)
Evidence for a Continuum of Genetic, Phenotypic, and Biochemical Abnormalities in Children with Growth Hormone Insensitivity
Alessia David et al.
ENDOCRINE REVIEWS (2011)
Pregnancy-Associated Plasma Protein-A2 (PAPP-A2): Tissue Expression and Biological Consequences of Gene Knockout in Mice
Cheryl A. Conover et al.
ENDOCRINOLOGY (2011)
Mechanisms and pathways of growth failure in primordial dwarfism
Anna Klingseisen et al.
GENES & DEVELOPMENT (2011)
The Growth Hormone Receptor (GHR) c.899dupC Mutation Functions as a Dominant Negative: Insights into the Pathophysiology of Intracellular GHR Defects
Michael A. Derr et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2011)
Clinical and Functional Characteristics of a Novel Heterozygous Mutation of the IGF1R Gene and IGF1R Haploinsufficiency due to Terminal 15q26.2-> qter Deletion in Patients with Intrauterine Growth Retardation and Postnatal Catch-Up Growth Failure
Jin-Ho Choi et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2011)
D440N Mutation in the Acid-Labile Subunit of Insulin-Like Growth Factor Complexes Inhibits Secretion and Complex Formation
Sue M. Firth et al.
MOLECULAR ENDOCRINOLOGY (2011)
A novel STAT5B mutation causing GH insensitivity syndrome associated with hyperprolactinemia and immune dysfunction in two male siblings
Patricia N. Pugliese-Pires et al.
EUROPEAN JOURNAL OF ENDOCRINOLOGY (2010)
Atypical GH Insensitivity Syndrome and Severe Insulin-Like Growth Factor-I Deficiency Resulting from Compound Heterozygous Mutations of the GH Receptor, Including a Novel Frameshift Mutation Affecting the Intracellular Domain
Javier Aisenberg et al.
HORMONE RESEARCH IN PAEDIATRICS (2010)
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)
Impact of Heterozygosity for Acid-Labile Subunit (IGFALS) Gene Mutations on Stature: Results from the International Acid-Labile Subunit Consortium
Olga V. Fofanova-Gambetti et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2010)
A Heterozygous Mutation of the Insulin-Like Growth Factor-I Receptor Causes Retention of the Nascent Protein in the Endoplasmic Reticulum and Results in Intrauterine and Postnatal Growth Retardation
Tillmann Wallborn et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2010)
Heterozygous Mutation within a Kinase-Conserved Motif of the Insulin-Like Growth Factor I Receptor Causes Intrauterine and Postnatal Growth Retardation
Tassilo Kruis et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2010)
Human Acid-Labile Subunit Deficiency: Clinical, Endocrine and Metabolic Consequences
Horacio M. Domene et al.
HORMONE RESEARCH (2009)
Partial Primary Deficiency of Insulin-Like Growth Factor (IGF)-I Activity Associated with IGF1 Mutation Demonstrates Its Critical Role in Growth and Brain Development
Irene Netchine et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2009)
Familial Short Stature Caused by Haploinsufficiency of the Insulin-Like Growth Factor I Receptor due to Nonsense-Mediated Messenger Ribonucleic Acid Decay
Peng Fang et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2009)
Homozygous and heterozygous expression of a novel mutation of the acid-labile subunit
H. A. van Duyvenvoorde et al.
EUROPEAN JOURNAL OF ENDOCRINOLOGY (2008)
Successful long-term growth hormone therapy in a girl with haploinsufficiency of the insulin-like growth factor-I receptor due to a terminal 15q26.2-> qter deletion detected by multiplex ligation probe amplification
Marie J. E. Walenkamp et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2008)
11p15 imprinting center region 1 loss of methylation is a common and specific cause of typical Russell-Silver syndrome: Clinical scoring system and epigenetic-phenotypic correlations
Irene Netchine et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2007)
Growth hormone secretion and immunological function of a male patient with a homozygous STATSb mutation
Marie J. E. Walenkamp et al.
EUROPEAN JOURNAL OF ENDOCRINOLOGY (2007)
An intronic growth hormone receptor mutation causing activation of a pseudoexon is associated with a broad spectrum of growth hormone insensitivity phenotypes
A. David et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2007)
Tall stature and duplication of the insulin-like growth factor I receptor gene
S. G. Kant et al.
EUROPEAN JOURNAL OF MEDICAL GENETICS (2007)
Characterization of immunodeficiency in a patient with growth hormone insensitivity secondary to a novel STAT5b gene mutation
Andrea Bernasconi et al.
PEDIATRICS (2006)
Clinical and biochemical characteristics of a male patient with a novel homozygous STAT5b mutation
Solrun Vidarsdottir et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2006)
Cutting edge:: Decreased accumulation and regulatory function of CD4+CD25high T cells in human STAT 5b deficiency
Aileen C. Cohen et al.
JOURNAL OF IMMUNOLOGY (2006)
A variable degree of intrauterine and postnatal growth retardation in a family with a missense mutation in the insulin-like growth factor I receptor
M. J. E. Walenkamp et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2006)
Total absence of functional acid labile subunit, resulting in severe insulin-like growth factor deficiency and moderate growth failure
V Hwa et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2006)
Aberrant folding of a mutant Stat5b causes growth hormone insensitivity and proteasomal dysfunction
DJ Chia et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2006)
A 36 residues insertion in the dimerization domain of the growth hormone receptor results in defective trafficking rather than impaired signaling
M Maamra et al.
JOURNAL OF ENDOCRINOLOGY (2006)
Severe growth hormone insensitivity resulting from total absence of signal transducer and activator of transcription 5b
V Hwa et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2005)
Homozygous and heterozygous expression of a novel insulin-like growth factor-I mutation
MJE Walenkamp et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2005)
Structural and functional characteristics of the Val44Met insulin-like growth factor I missense mutation:: Correlation with effects on growth and development
A Denley et al.
MOLECULAR ENDOCRINOLOGY (2005)
Deficiency of the circulating insulin-like growth factor system associated with inactivation of the acid-labile subunit gene
HM Domené et al.
NEW ENGLAND JOURNAL OF MEDICINE (2004)
Transcriptional regulation of insulin-like growth factor-I by interferon-γ requires STAT-5b
V Hwa et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2004)
Mono-allelic expression of the IGF-I receptor does not affect IGF responses in human fibroblasts
E Hammer et al.
EUROPEAN JOURNAL OF ENDOCRINOLOGY (2004)
IGF-I receptor mutations resulting in intrauterine and postnatal growth retardation
MJ Abuzzahab et al.
NEW ENGLAND JOURNAL OF MEDICINE (2003)
A novel mutation in a patient with insulin-like growth factor 1 (IGF1) deficiency
G Bonapace et al.
JOURNAL OF MEDICAL GENETICS (2003)
Growth hormone insensitivity associated with a STAT5b mutation
EM Kofoed et al.
NEW ENGLAND JOURNAL OF MEDICINE (2003)
Cell proliferation activities on skin fibroblasts from a short child with absence of one copy of the type 1 insulin-like growth factor receptor (IGF1R) gene and a tall child with three copies of the IGF1R gene
Y Okubo et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2003)
STATs: Transcriptional control and biological impact
DE Levy et al.
NATURE REVIEWS MOLECULAR CELL BIOLOGY (2002)
Structure and function of the type 1 insulin-like growth factor receptor
TE Adams et al.
CELLULAR AND MOLECULAR LIFE SCIENCES (2000)
Insulin-like growth factor (IGF)-binding proteins: interactions with IGFs and intrinsic bioactivities
RC Baxter
AMERICAN JOURNAL OF PHYSIOLOGY-ENDOCRINOLOGY AND METABOLISM (2000)