Rossella Cannarella
Rossella Cannarella
Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy
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Teresa Mattina
Teresa Mattina
Genetics, University of Catania, Catania, Italy
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Rosita A Condorelli
Rosita A Condorelli
Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy
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Laura M Mongioì
Laura M Mongioì
Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy
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Giuseppe Pandini
Giuseppe Pandini
Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy
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Sandro La Vignera
Sandro La Vignera
Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy
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Aldo E Calogero
Aldo E Calogero
Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy
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Introduction Insulin-like growth factor 1 receptor ( IGF1R ) gene, made up of 315,991 base pairs, maps on the 15q26.3 chromosome. It encodes for a protein with a tyrosine kinase domain, which binds the IGF1 and is responsible for its
K L Gatford
K L Gatford
School of Paediatrics and Reproductive Health, Robinson Research Institute, University of Adelaide, Adelaide, South Australia 5005, Australia
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G K Heinemann
G K Heinemann
School of Paediatrics and Reproductive Health, Robinson Research Institute, University of Adelaide, Adelaide, South Australia 5005, Australia
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S D Thompson
S D Thompson
School of Paediatrics and Reproductive Health, Robinson Research Institute, University of Adelaide, Adelaide, South Australia 5005, Australia
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J V Zhang
J V Zhang
School of Paediatrics and Reproductive Health, Robinson Research Institute, University of Adelaide, Adelaide, South Australia 5005, Australia
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S Buckberry
S Buckberry
School of Paediatrics and Reproductive Health, Robinson Research Institute, University of Adelaide, Adelaide, South Australia 5005, Australia
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J A Owens
J A Owens
School of Paediatrics and Reproductive Health, Robinson Research Institute, University of Adelaide, Adelaide, South Australia 5005, Australia
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G A Dekker
G A Dekker
School of Paediatrics and Reproductive Health, Robinson Research Institute, University of Adelaide, Adelaide, South Australia 5005, Australia
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C T Roberts
C T Roberts
School of Paediatrics and Reproductive Health, Robinson Research Institute, University of Adelaide, Adelaide, South Australia 5005, Australia
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on behalf of the SCOPE Consortium
on behalf of the SCOPE Consortium
School of Paediatrics and Reproductive Health, Robinson Research Institute, University of Adelaide, Adelaide, South Australia 5005, Australia
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variation also impacts the IGF axis and circulating IGF1 and IGF2 differ between individuals according to their genotype at single-nucleotide polymorphisms (SNPs) in the genes for IGF1 , IGF2 and the IGF1 receptor ( IGF1R ). Within the IGF1 locus, rs
Xu-Ting Song
Xu-Ting Song
Key Laboratory of Animal Genetics, Breeding and Reproduction, Education Department of Heilongjiang Province, College of Animal Science and Technology
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Jia-Nan Zhang
Jia-Nan Zhang
Key Laboratory of Animal Genetics, Breeding and Reproduction, Education Department of Heilongjiang Province, College of Animal Science and Technology
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Duo-Wei Zhao
Duo-Wei Zhao
Key Laboratory of Animal Genetics, Breeding and Reproduction, Education Department of Heilongjiang Province, College of Animal Science and Technology
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Yu-Fei Zhai
Yu-Fei Zhai
Key Laboratory of Animal Genetics, Breeding and Reproduction, Education Department of Heilongjiang Province, College of Animal Science and Technology
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Qi Lu
Qi Lu
Key Laboratory of Animal Genetics, Breeding and Reproduction, Education Department of Heilongjiang Province, College of Animal Science and Technology
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Mei-Yu Qi
Mei-Yu Qi
Institute of Animal Husbandry, Heilongjiang Academy of Agricultural Sciences, Harbin, China
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Ming-Hai Lu
Ming-Hai Lu
Department of Animal Science, Heilongjiang State Farms Science Technology Vocational College, Harbin, China
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Shou-Long Deng
Shou-Long Deng
CAS Key Laboratory of Genome Sciences and Information, Beijing Institute of Genomics, Chinese Academy of Sciences, Beijing, China
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Hong-Bing Han
Hong-Bing Han
Beijing Key Laboratory of Animal Genetic Improvement, China Agricultural University, Beijing, China
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Xiu-Qin Yang
Xiu-Qin Yang
Key Laboratory of Animal Genetics, Breeding and Reproduction, Education Department of Heilongjiang Province, College of Animal Science and Technology
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Yu-Chang Yao
Yu-Chang Yao
Key Laboratory of Animal Genetics, Breeding and Reproduction, Education Department of Heilongjiang Province, College of Animal Science and Technology
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), immunity ( 3 ), and metabolism ( 4 ) in vertebrate species. The important role of IGF1 in growth and development makes it a promising candidate gene for the marker-assisted selection of growth traits ( 5 ). Alternative splicing, occurring in over 95% of
R Solomon-Zemler
R Solomon-Zemler
Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel
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L Basel-Vanagaite
L Basel-Vanagaite
Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel
Raphael Recanati Genetic Institute, Rabin Medical Center – Beilinson Hospital, Petach Tikva, Israel
Felsenstein Medical Research Center, Petach Tikva, Israel
Pediatric Genetics, Schneider Children’s Medical Center of Israel, Petach Tikva, Israel
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Raphael Recanati Genetic Institute, Rabin Medical Center – Beilinson Hospital, Petach Tikva, Israel
Felsenstein Medical Research Center, Petach Tikva, Israel
Pediatric Genetics, Schneider Children’s Medical Center of Israel, Petach Tikva, Israel
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D Steier
D Steier
Day Hospitalization Department, Schneider Children’s Medical Center of Israel, Petach Tikva, Israel
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S Yakar
S Yakar
David B. Kriser Dental Center, Department of Basic Science and Craniofacial Biology, New York University College of Dentistry, New York, New York, USA
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E Mel
E Mel
Jesse Z. and Sara Lea Shafer Institute for Endocrinology and Diabetes, Schneider Children’s Medical Center of Israel, Petach Tikva, Israel
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M Phillip
M Phillip
Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel
Jesse Z. and Sara Lea Shafer Institute for Endocrinology and Diabetes, Schneider Children’s Medical Center of Israel, Petach Tikva, Israel
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Jesse Z. and Sara Lea Shafer Institute for Endocrinology and Diabetes, Schneider Children’s Medical Center of Israel, Petach Tikva, Israel
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L Bazak
L Bazak
Raphael Recanati Genetic Institute, Rabin Medical Center – Beilinson Hospital, Petach Tikva, Israel
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D Bercovich
D Bercovich
Tel-Hai College, Tel-Hai, Israel
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H Werner
H Werner
Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel
Shalom and VardaYoran Institute for Human Genome Research, Tel Aviv University, Tel Aviv, Israel
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Shalom and VardaYoran Institute for Human Genome Research, Tel Aviv University, Tel Aviv, Israel
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L de Vries
L de Vries
Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel
Jesse Z. and Sara Lea Shafer Institute for Endocrinology and Diabetes, Schneider Children’s Medical Center of Israel, Petach Tikva, Israel
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Jesse Z. and Sara Lea Shafer Institute for Endocrinology and Diabetes, Schneider Children’s Medical Center of Israel, Petach Tikva, Israel
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; (ii) GH gene deletion (isolated GH deficiency); (iii) GH receptor ( GH-R ) gene defects (Laron syndrome); and (iv) IGF1 gene deletion. Additional conditions leading to impairment of the GH-IGF-1 axis are defects of post-GH-R signaling (e.g. STAT5
R C S van Adrichem
R C S van Adrichem
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L J Hofland
L J Hofland
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R A Feelders
R A Feelders
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M C De Martino
M C De Martino
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P M van Koetsveld
P M van Koetsveld
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C H J van Eijck
C H J van Eijck
Department of Internal Medicine, Department of Surgery, Department of Pathology, Sector of Endocrinology, Erasmus MC, ‘s Gravendijkwal 230, Room D-430, 3015 CE Rotterdam, The Netherlands
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R R de Krijger
R R de Krijger
Department of Internal Medicine, Department of Surgery, Department of Pathology, Sector of Endocrinology, Erasmus MC, ‘s Gravendijkwal 230, Room D-430, 3015 CE Rotterdam, The Netherlands
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D M Sprij-Mooij
D M Sprij-Mooij
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J A M J L Janssen
J A M J L Janssen
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W W de Herder
W W de Herder
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functions in normal tissues and tumors, plays an important role in the pathophysiology of GEP NETs (2) . The IGF system consists of different IGF-related genes: two ligands (IGF1 and IGF2), two IGF receptors (IGF1R and IGF2R), two insulin receptors (IR
P G Murray
P G Murray
Centre for Paediatrics and Child Health, Faculty of Medicine, Centre for Genetic Medicine, 5th Floor Research, Genetic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, UK
Centre for Paediatrics and Child Health, Faculty of Medicine, Centre for Genetic Medicine, 5th Floor Research, Genetic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, UK
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Centre for Paediatrics and Child Health, Faculty of Medicine, Centre for Genetic Medicine, 5th Floor Research, Genetic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, UK
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D Hanson
D Hanson
Centre for Paediatrics and Child Health, Faculty of Medicine, Centre for Genetic Medicine, 5th Floor Research, Genetic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, UK
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T Coulson
T Coulson
Centre for Paediatrics and Child Health, Faculty of Medicine, Centre for Genetic Medicine, 5th Floor Research, Genetic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, UK
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A Stevens
A Stevens
Centre for Paediatrics and Child Health, Faculty of Medicine, Centre for Genetic Medicine, 5th Floor Research, Genetic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, UK
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A Whatmore
A Whatmore
Centre for Paediatrics and Child Health, Faculty of Medicine, Centre for Genetic Medicine, 5th Floor Research, Genetic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, UK
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R L Poole
R L Poole
Centre for Paediatrics and Child Health, Faculty of Medicine, Centre for Genetic Medicine, 5th Floor Research, Genetic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, UK
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D J Mackay
D J Mackay
Centre for Paediatrics and Child Health, Faculty of Medicine, Centre for Genetic Medicine, 5th Floor Research, Genetic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, UK
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G C M Black
G C M Black
Centre for Paediatrics and Child Health, Faculty of Medicine, Centre for Genetic Medicine, 5th Floor Research, Genetic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, UK
Centre for Paediatrics and Child Health, Faculty of Medicine, Centre for Genetic Medicine, 5th Floor Research, Genetic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, UK
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Centre for Paediatrics and Child Health, Faculty of Medicine, Centre for Genetic Medicine, 5th Floor Research, Genetic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, UK
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P E Clayton
P E Clayton
Centre for Paediatrics and Child Health, Faculty of Medicine, Centre for Genetic Medicine, 5th Floor Research, Genetic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, UK
Centre for Paediatrics and Child Health, Faculty of Medicine, Centre for Genetic Medicine, 5th Floor Research, Genetic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, UK
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Centre for Paediatrics and Child Health, Faculty of Medicine, Centre for Genetic Medicine, 5th Floor Research, Genetic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, UK
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fleshy lips), prominent heels, normal intelligence and, in some, radiological features (slender long bones and tall vertebral bodies). It is caused by loss of function mutations in the genes encoding cullin 7 ( CUL7 ) (1) , obscurin-like 1 ( OBSL1 ) (2
Bushra Shahida
Bushra Shahida
Department of Clinical Sciences, Genomics, Diabetes and Endocrinology, Lund University, Malmö, Sweden
Department of Diabetes & Endocrinology, Skåne University Hospital, Malmö, Sweden
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Department of Diabetes & Endocrinology, Skåne University Hospital, Malmö, Sweden
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Tereza Planck
Tereza Planck
Department of Clinical Sciences, Genomics, Diabetes and Endocrinology, Lund University, Malmö, Sweden
Department of Diabetes & Endocrinology, Skåne University Hospital, Malmö, Sweden
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Department of Diabetes & Endocrinology, Skåne University Hospital, Malmö, Sweden
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Tania Singh
Tania Singh
Department of Clinical Sciences, Genomics, Diabetes and Endocrinology, Lund University, Malmö, Sweden
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Peter Åsman
Peter Åsman
Department of Clinical Sciences Malmö, Ophthalmology, Lund University, Malmö, Sweden
Department of Ophthalmology, Skåne University Hospital, Malmö, Sweden
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Department of Ophthalmology, Skåne University Hospital, Malmö, Sweden
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Mikael Lantz
Mikael Lantz
Department of Clinical Sciences, Genomics, Diabetes and Endocrinology, Lund University, Malmö, Sweden
Department of Diabetes & Endocrinology, Skåne University Hospital, Malmö, Sweden
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Department of Diabetes & Endocrinology, Skåne University Hospital, Malmö, Sweden
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inflammatory genes. Furthermore, we found that CSE and IGF1 enhanced the proliferation of B and T lymphocytes from GD patients and that simvastatin downregulated proliferation. In an earlier study, we showed that CSE exposure increased the expression of PTGS
Rachel D C A Diniz
Rachel D C A Diniz
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Renata M Souza
Renata M Souza
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Roberto Salvatori
Roberto Salvatori
Division of Endocrinology, Division of Endocrinology, Division of Hepatology, Division of Radiology, Diabetes and Metabolism, Federal University of Sergipe, Aracaju, Brazil
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Alex Franca
Alex Franca
Division of Endocrinology, Division of Endocrinology, Division of Hepatology, Division of Radiology, Diabetes and Metabolism, Federal University of Sergipe, Aracaju, Brazil
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Elenilde Gomes-Santos
Elenilde Gomes-Santos
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Thiago O Ferrão
Thiago O Ferrão
Division of Endocrinology, Division of Endocrinology, Division of Hepatology, Division of Radiology, Diabetes and Metabolism, Federal University of Sergipe, Aracaju, Brazil
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Carla R P Oliveira
Carla R P Oliveira
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João A M Santana
João A M Santana
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Francisco A Pereira
Francisco A Pereira
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Rita A A Barbosa
Rita A A Barbosa
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Anita H O Souza
Anita H O Souza
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Rossana M C Pereira
Rossana M C Pereira
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Alécia A Oliveira-Santos
Alécia A Oliveira-Santos
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Allysson M P Silva
Allysson M P Silva
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Francisco J Santana-Júnior
Francisco J Santana-Júnior
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Eugênia H O Valença
Eugênia H O Valença
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Viviane C Campos
Viviane C Campos
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Manuel H Aguiar-Oliveira
Manuel H Aguiar-Oliveira
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the GHRH receptor gene ( GHRHR ) (15) . These subjects have very low circulating serum IGF1 levels and could therefore be predisposed to developing NAFLD (16) . Despite abdominal obesity and unfavorable cardiovascular risk profile (high total and LDL
Katherine A Bolton
Katherine A Bolton
Centre for Bioinformatics, Biomarker Discovery and Information-Based Medicine, Hunter Medical Research Institute, Newcastle, New South Wales, Australia
Priority Research Centre for Cancer, School of Biomedical Sciences and Pharmacy, Faculty of Health and Medicine, University of Newcastle, Newcastle, New South Wales, Australia
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Priority Research Centre for Cancer, School of Biomedical Sciences and Pharmacy, Faculty of Health and Medicine, University of Newcastle, Newcastle, New South Wales, Australia
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Kelly A Avery-Kiejda
Kelly A Avery-Kiejda
Centre for Bioinformatics, Biomarker Discovery and Information-Based Medicine, Hunter Medical Research Institute, Newcastle, New South Wales, Australia
Priority Research Centre for Cancer, School of Biomedical Sciences and Pharmacy, Faculty of Health and Medicine, University of Newcastle, Newcastle, New South Wales, Australia
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Priority Research Centre for Cancer, School of Biomedical Sciences and Pharmacy, Faculty of Health and Medicine, University of Newcastle, Newcastle, New South Wales, Australia
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Elizabeth G Holliday
Elizabeth G Holliday
Centre for Clinical Epidemiology and Biostatistics, School of Medicine and Public Health, Faculty of Health and Medicine, University of Newcastle, Newcastle, New South Wales, Australia
Clinical Research Design, IT and Statistical Support Unit, Hunter Medical Research Institute, Newcastle, New South Wales, Australia
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Clinical Research Design, IT and Statistical Support Unit, Hunter Medical Research Institute, Newcastle, New South Wales, Australia
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John Attia
John Attia
Centre for Clinical Epidemiology and Biostatistics, School of Medicine and Public Health, Faculty of Health and Medicine, University of Newcastle, Newcastle, New South Wales, Australia
Clinical Research Design, IT and Statistical Support Unit, Hunter Medical Research Institute, Newcastle, New South Wales, Australia
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Clinical Research Design, IT and Statistical Support Unit, Hunter Medical Research Institute, Newcastle, New South Wales, Australia
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Nikola A Bowden
Nikola A Bowden
Centre for Bioinformatics, Biomarker Discovery and Information-Based Medicine, Hunter Medical Research Institute, Newcastle, New South Wales, Australia
Priority Research Centre for Cancer, School of Biomedical Sciences and Pharmacy, Faculty of Health and Medicine, University of Newcastle, Newcastle, New South Wales, Australia
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Priority Research Centre for Cancer, School of Biomedical Sciences and Pharmacy, Faculty of Health and Medicine, University of Newcastle, Newcastle, New South Wales, Australia
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Rodney J Scott
Rodney J Scott
Centre for Bioinformatics, Biomarker Discovery and Information-Based Medicine, Hunter Medical Research Institute, Newcastle, New South Wales, Australia
Priority Research Centre for Cancer, School of Biomedical Sciences and Pharmacy, Faculty of Health and Medicine, University of Newcastle, Newcastle, New South Wales, Australia
Molecular Medicine, Pathology North, John Hunter Hospital, Newcastle, New South Wales, Australia
Discipline of Medical Genetics, School of Biomedical Sciences and Pharmacy, Faculty of Health and Medicine, University of Newcastle, University Drive, Newcastle, New South Wales, Australia
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Priority Research Centre for Cancer, School of Biomedical Sciences and Pharmacy, Faculty of Health and Medicine, University of Newcastle, Newcastle, New South Wales, Australia
Molecular Medicine, Pathology North, John Hunter Hospital, Newcastle, New South Wales, Australia
Discipline of Medical Genetics, School of Biomedical Sciences and Pharmacy, Faculty of Health and Medicine, University of Newcastle, University Drive, Newcastle, New South Wales, Australia
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IGF1 levels in premenopausal women ( 21 ). Hence, polymorphisms in the IGF1 gene have been extensively analysed in relation to breast cancer risk, although the results have been variable and sometimes contradictory ( 19 , 22 , 23 , 24 , 25
Ursula M M Costa
Ursula M M Costa
Division of Cardiology, Division of Endocrinology, Division of Endocrinology, Federal University of Sergipe, Aracaju, SE 49060-100, Brazil
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Carla R P Oliveira
Carla R P Oliveira
Division of Cardiology, Division of Endocrinology, Division of Endocrinology, Federal University of Sergipe, Aracaju, SE 49060-100, Brazil
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Roberto Salvatori
Roberto Salvatori
Division of Cardiology, Division of Endocrinology, Division of Endocrinology, Federal University of Sergipe, Aracaju, SE 49060-100, Brazil
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José A S Barreto-Filho
José A S Barreto-Filho
Division of Cardiology, Division of Endocrinology, Division of Endocrinology, Federal University of Sergipe, Aracaju, SE 49060-100, Brazil
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Viviane C Campos
Viviane C Campos
Division of Cardiology, Division of Endocrinology, Division of Endocrinology, Federal University of Sergipe, Aracaju, SE 49060-100, Brazil
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Francielle T Oliveira
Francielle T Oliveira
Division of Cardiology, Division of Endocrinology, Division of Endocrinology, Federal University of Sergipe, Aracaju, SE 49060-100, Brazil
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Ivina E S Rocha
Ivina E S Rocha
Division of Cardiology, Division of Endocrinology, Division of Endocrinology, Federal University of Sergipe, Aracaju, SE 49060-100, Brazil
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Joselina L M Oliveira
Joselina L M Oliveira
Division of Cardiology, Division of Endocrinology, Division of Endocrinology, Federal University of Sergipe, Aracaju, SE 49060-100, Brazil
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Wersley A Silva
Wersley A Silva
Division of Cardiology, Division of Endocrinology, Division of Endocrinology, Federal University of Sergipe, Aracaju, SE 49060-100, Brazil
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Manuel H Aguiar-Oliveira
Manuel H Aguiar-Oliveira
Division of Cardiology, Division of Endocrinology, Division of Endocrinology, Federal University of Sergipe, Aracaju, SE 49060-100, Brazil
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Introduction Growth hormone (GH) and its principal mediator insulin-like growth factor 1 (IGF1) have important effects not only on the acquisition of normal body size, but also on metabolic and cardiovascular (CV) status (1) . GH and IGF1 have
