Vivian Hwa

Vivian Hwa

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Vivian Hwa

Publications by authors named "Vivian Hwa"

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Low IGF-I Bioavailability Impairs Growth and Glucose Metabolism in a Mouse Model of Human PAPPA2 p.Ala1033Val Mutation.

Endocrinology 2019 Jun;160(6):1363-1376

Division of Endocrinology, Cincinnati Center for Growth Disorders, Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, Ohio.

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http://dx.doi.org/10.1210/en.2018-00755DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6507901PMC
June 2019

Nonclassical GH Insensitivity: Characterization of Mild Abnormalities of GH Action.

Endocr Rev 2019 04;40(2):476-505

Division of Endocrinology, Cincinnati Center for Growth Disorders, Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, Ohio.

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http://dx.doi.org/10.1210/er.2018-00146DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6607971PMC
April 2019

A Novel Homozygous Mutation of the Acid-Labile Subunit (IGFALS) Gene in a Male Adolescent

J Clin Res Pediatr Endocrinol 2019 Feb 5. Epub 2019 Feb 5.

Istanbul University, Istanbul Faculty of Medicine, Pediatric Endocrinology Unit, Istanbul, TURKEY

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http://dx.doi.org/10.4274/jcrpe.galenos.2019.2018.0301DOI Listing
February 2019

Laron syndrome related to homozygous growth hormone receptor c.784>C mutation in a patient with hypoplastic pulmonary arteries.

Cardiovasc J Afr 2019 Mar/Apr 23;30(2):e7-e8. Epub 2019 Jan 22.

Department of Paediatric Endocrinology, Faculty of Medicine, Inonu University, Malatya, Turkey.

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http://dx.doi.org/10.5830/CVJA-2019-002DOI Listing
January 2019

Two Siblings with a Mutation in CCDC8 Presenting with Mild Short Stature: A Case of 3-M Syndrome.

Horm Res Paediatr 2017 4;88(5):364-370. Epub 2017 Jul 4.

Cincinnati Center for Growth Disorders, Division of Endocrinology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.

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http://dx.doi.org/10.1159/000477907DOI Listing
July 2018

PAPPA2 as a Therapeutic Modulator of IGF-I Bioavailability: and Evidence.

J Endocr Soc 2018 Jul 28;2(7):646-656. Epub 2018 May 28.

Division of Endocrinology, Cincinnati Center for Growth Disorders, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio.

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https://academic.oup.com/jes/article/2/7/646/5005862
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http://dx.doi.org/10.1210/js.2018-00106DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6009608PMC
July 2018

Expanding Genetic and Functional Diagnoses of IGF1R Haploinsufficiencies.

Horm Res Paediatr 2017 10;87(6):412-422. Epub 2017 Apr 10.

Cincinnati Center for Growth Disorders, Division of Endocrinology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.

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http://dx.doi.org/10.1159/000464143DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5509495PMC
April 2018

Isolated growth hormone deficiency due to the R183H mutation in GH1: Clinical analysis of a four-generation family.

Clin Endocrinol (Oxf) 2017 12 21;87(6):874-876. Epub 2017 Jul 21.

Division of Endocrinology, Cincinnati Center for Growth Disorders, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.

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http://doi.wiley.com/10.1111/cen.13400
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http://dx.doi.org/10.1111/cen.13400DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5698139PMC
December 2017

Novel Modulators of the Growth Hormone - Insulin-Like Growth Factor Axis: Pregnancy-Associated Plasma Protein-A2 and Stanniocalcin-2.

J Clin Res Pediatr Endocrinol 2017 Dec 27;9(Suppl 2):1-8. Epub 2017 Dec 27.

Cincinnati Children's Hospital Medical Center, Cincinnati Center for Growth Disorders, Clinic of Endocrinology, Cincinnati, Ohio, USA.

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http://dx.doi.org/10.4274/jcrpe.2017.S001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5790331PMC
December 2017

Biology of the somatotroph axis (after the pituitary).

Ann Endocrinol (Paris) 2017 Jun 8;78(2):80-82. Epub 2017 May 8.

Cincinnati Center for Growth Disorders, Cincinnati, Ohio, United States; Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, United States.

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http://dx.doi.org/10.1016/j.ando.2017.04.002DOI Listing
June 2017

Severe Short Stature in Two Siblings as the Presenting Sign of ACP5 Deficiency.

Horm Res Paediatr 2016 21;85(5):358-62. Epub 2016 Jan 21.

Cincinnati Center for Growth Disorders, Division of Endocrinology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.

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http://dx.doi.org/10.1159/000443684DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4891295PMC
April 2017

Two Patients with Severe Short Stature due to a FBN1 Mutation (p.Ala1728Val) with a Mild Form of Acromicric Dysplasia.

Horm Res Paediatr 2016 2;86(5):342-348. Epub 2016 Jun 2.

Division of Endocrinology, Cincinnati Center for Growth Disorders, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.

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http://dx.doi.org/10.1159/000446476DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5135661PMC
April 2017

IMAGe and Related Undergrowth Syndromes: The Complex Spectrum of Gain-of-Function CDKN1C Mutations.

Pediatr Endocrinol Rev 2017 Mar;14(3):289-297

Cincinnati Center for Growth Disorders, Division of Endocrinology, Cincinnati Children's Hospital Medical Center. Cincinnati, OH, USA.

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http://dx.doi.org/10.17458/per.vol14.2017.SKHD.imageandrelatedundergrowthDOI Listing
March 2017

STAT5B deficiency: Impacts on human growth and immunity.

Authors:
Vivian Hwa

Growth Horm IGF Res 2016 06 10;28:16-20. Epub 2015 Dec 10.

Cincinnati Center for Growth Disorders, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, 45229, United States. Electronic address:

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http://dx.doi.org/10.1016/j.ghir.2015.12.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4846566PMC
June 2016

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

Endocrinology 2016 05 16;157(5):1914-28. Epub 2016 Mar 16.

Department of Pathology and Laboratory Medicine (M.M., D.E., S.B., Y.A.), The Children's Hospital of Philadelphia and The University of Pennsylvania, Philadelphia,; Division of Endocrinology and Diabetes (C.P.H., A.G.), The Children's Hospital of Philadelphia, and Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Pennsylvania 19104; National Children's Research Centre (C.P.H.), Dublin 12, Ireland; STAT5, LLC (R.R.), Los Altos, California 94022; Department of Pediatrics (R.R., V.H.), Oregon Health and Science University, Portland, Oregon 97239; Departments of Pediatrics (J.-M.W., H.A.v.D., W.O.), Endocrinology and Metabolic Diseases (H.A.v.D.), and Clinical Genetics (H.A.v.D., M.L.), Leiden University Medical Center, 2300 RC Leiden, The Netherlands; Faculty of Health and Medical Sciences (O.P.), University of Copenhagen, DK-2400 Copenhagen, Denmark; School of Medicine and Pharmacology (B.B.Y.), Western Australia Centre for Health and Ageing (L.F.), Centre for Medical Research (L.F.), and School of Medicine and Pharmacology (L.F.), University of Western Australia, Perth, Western Australia 6872, Australia; Department of Endocrinology and Diabetes (B.B.Y.), Fiona Stanley Hospital, Perth, Western Australia 6150, Australia; Department of Human Biology (G.A.), Faculty of Natural Sciences, University of Haifa, Haifa 3498838, Israel; and Departments of Medicine and Genetics (N.B., G.A.), Albert Einstein College of Medicine, Bronx, New York 10461.

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http://dx.doi.org/10.1210/en.2015-2058DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4870884PMC
May 2016

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

EMBO Mol Med 2016 04;8(4):363-74

Department of Pediatrics & Pediatric Endocrinology, Hospital Infantil Universitario Niño Jesús Instituto de Investigación La Princesa Universidad Autónoma de Madrid, Madrid, Spain Program of Pediatric Obesity, CIBEROBN Instituto de Salud Carlos III, Madrid, Spain

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http://dx.doi.org/10.15252/emmm.201506106DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4818753PMC
April 2016

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

Eur J Endocrinol 2015 Sep 1;173(3):291-6. Epub 2015 Jun 1.

Unidade de Endocrinologia GeneticaLaboratorio de Endocrinologia Celular e Molecular LIM/25, Disciplina de Endocrinologia da Faculdade de Medicina da Universidade de Sao Paulo, Avenida Dr Arnaldo, 455 5° Andar Sala 5340, 01246-903 Sao Paulo, Sao Paulo, BrazilDivision of EndocrinologyCincinnati Center for Growth Disorders, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio 45229, USACentro de Investigaciones Endocrinológicas 'Dr César Bergadá' (CEDIE)CONICET - FEI - División de Endocrinología, Hospital de Niños Ricardo Gutiérrez, C1425EFD Buenos Aires, ArgentinaEndocrine ServiceHospital de Pediatria Garrahan, Ciudad Autonoma de Buenos Aires Pozos 1881, 1245 Buenos Aires, ArgentinaDivision of EndocrinologyDepartment of Medicine, Leiden University Medical Center, 2300 RC Leiden, The NetherlandsUniversidade do Extremo Sul Catarinense88806-000 Criciúma, Santa Catarina, BrazilDepartment of PediatricsLeiden University Medical Center, 2300 RC Leiden, The NetherlandsDepartment of PediatricsOregon Health and Science University, Portland, Oregon 97239, USA

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http://dx.doi.org/10.1530/EJE-15-0398DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4898761PMC
September 2015

A novel ERCC6 splicing variant associated with a mild Cockayne syndrome phenotype.

Horm Res Paediatr 2014 1;82(5):344-52. Epub 2014 Nov 1.

Division of Endocrinology, Boston Children's Hospital, Boston, Mass., USA.

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http://dx.doi.org/10.1159/000368192DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4329776PMC
July 2015

An XRCC4 splice mutation associated with severe short stature, gonadal failure, and early-onset metabolic syndrome.

J Clin Endocrinol Metab 2015 May 5;100(5):E789-98. Epub 2015 Mar 5.

Cincinnati Center for Growth Disorders (C.d.B., S.F.A., V.H., A.D.), Division of Endocrinology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio 45229; Institute of Maternal and Child Research (V.M.), Faculty of Medicine, University of Chile, 226-3 Santiago, Chile; Laboratory for Diagnostic Genome Analysis (H.A.v.D., M.L.), Department of Clinical Genetics, Leiden University Medical Center, 2333 ZA Leiden, The Netherlands; Department of Genetics (N.S.V., D.C.v.G.), Erasmus MC, 3015 CE Rotterdam, The Netherlands; Center for Autoimmune Genomics and Etiology (A.P.), Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio 45229; Pediatrics Division (H.G.), Faculty of Medicine, Pontificia Universidad Catolica de Chile Santiago, 340 Santiago, Chile; Division of Developmental Biology (Y.K.), Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio 45229; Institute of Human Development (D.H., P.C.), University of Manchester and Manchester Academic Health Sciences Centre, Manchester M13 9PL, United Kingdom; and Department of Pediatrics (J.M.W.), Leiden University Medical Center, 2333 ZA Leiden, The Netherlands.

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http://repositorio.uchile.cl/bitstream/handle/2250/134110/An
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http://press.endocrine.org/doi/10.1210/jc.2015-1098
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http://dx.doi.org/10.1210/jc.2015-1098DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4422886PMC
May 2015

A novel GHR intronic variant, c.266+83G>T , activates a cryptic 5' splice site causing severe GHR deficiency and classical GH insensitivity syndrome.

Horm Res Paediatr 2013 26;80(6):397-405. Epub 2013 Nov 26.

Department of Pediatrics, Oregon Health and Science University, Portland, Oreg., USA.

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http://dx.doi.org/10.1159/000355404DOI Listing
October 2014

A novel variant in CDKN1C is associated with intrauterine growth restriction, short stature, and early-adulthood-onset diabetes.

J Clin Endocrinol Metab 2014 Oct 24;99(10):E2117-22. Epub 2014 Jul 24.

Department of Radiation Oncology (S.L.K.), Icahn School of Medicine at Mt Sinai, New York, New York 10029; Universidad San Francisco de Quito and Instituto de Endocrinología, Instituto de Endocrinologia Metabolismo y Reproducción (J.G.-A., C.G., M.G.-A.), 6337 CCI Quito, Ecuador; Department of Pediatrics (S.A., R.G.R., V.H.), Oregon Health and Science University, Portland, Oregon 97239; Department of Laboratory Medicine (J.G., Y.S.), Boston Children's Hospital, Boston, Massachusetts 02115; Shanghai Children's Medical Center (J.G., Y.S.), Shanghai Jiaotong University School of Medicine, Shanghai 200127, China; Department of Genetics (M.G.), Harvard Medical School, Boston, Massachusetts 02115; Program in Medical and Population Genetics (M.G., A.D.), Broad Institute, Cambridge, Massachusetts 02142; Departments of Pathology, Pediatrics and Genetics (C.O., H.O.), Albert Einstein College of Medicine of Yeshiva University, New York, New York 10461; Department of Pathology (Y.S.), Harvard Medical School, Boston Children's Hospital, Boston, Massachusetts 02115; Universidad San Francisco (A.Z.), 12841 Quito, Ecuador; and Division of Endocrinology (A.D.), Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio 45229.

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http://dx.doi.org/10.1210/jc.2014-1949DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4184067PMC
October 2014

The E180splice mutation in the GHR gene causing Laron syndrome: witness of a Sephardic Jewish exodus from the Iberian Peninsula to the New World?

Am J Med Genet A 2014 May 24;164A(5):1204-8. Epub 2014 Mar 24.

Laboratório de Imunohematologia e Hematologia Forense (LIM40), Departamento de Medicina Legal, Ética Médica e Medicina Social e do Trabalho, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil.

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http://repositorio.uchile.cl/bitstream/handle/2250/129559/Th
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http://doi.wiley.com/10.1002/ajmg.a.36444
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http://dx.doi.org/10.1002/ajmg.a.36444DOI Listing
May 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.

J Clin Endocrinol Metab 2014 Apr 13;99(4):E703-12. Epub 2014 Jan 13.

Departments of Endocrinology and Diabetes (W.H., N.S., T.B.) and Nuclear Medicine (N.C.), Birmingham Children's Hospital, B4 6NH Birmingham, United Kingdom; Department of Paediatric Endocrinology and Diabetes (D.D.M.), University Children's Hospital, D-72074 Tübingen, Germany; Wellcome Trust Clinical Research Facility (P.N.), Queen Elizabeth Hospital, Birmingham B15 2TH, United Kingdom; School of Clinical and Experimental Medicine (J.T., T.B.), University of Birmingham, Birmingham B15 2TT, United Kingdom; William Harvey Research Institute (L.M.), Barts and the London School of Medicine, Queen Mary University of London, London E1 1BB, United Kingdom; Department of Paediatrics (R.R.), Oregon Health Sciences University, Portland, Oregon 97239; Department of Paediatrics (S.R.), Heartlands Hospital, B9 5SS Birmingham, United Kingdom; Department of Paediatrics (J.W.), Portsmouth Hospital, Portsmouth PO6 3LY, United Kingdom; and Medical Research Laboratory (J.F.), Department of Clinical Medicine, Faculty of Health, Aarhus University, and Department of Endocrinology and Internal Medicine, Aarhus University Hospital, DK-8000 C Aarhus, Denmark.

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http://dx.doi.org/10.1210/jc.2013-3718DOI Listing
April 2014

IGF-I in human growth: lessons from defects in the GH-IGF-I axis.

Nestle Nutr Inst Workshop Ser 2013 22;71:43-55. Epub 2013 Jan 22.

Department of Pediatrics, Oregon Health and Science University, Portland, OR, USA.

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http://dx.doi.org/10.1159/000342548DOI Listing
October 2013

Current issues on molecular diagnosis of GH signaling defects.

Endocr Dev 2013 1;24:118-27. Epub 2013 Feb 1.

Department of Pediatrics, Oregon Health and Science University, Portland, Oreg., USA.

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https://www.karger.com/Article/FullText/342586
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http://dx.doi.org/10.1159/000342586DOI Listing
August 2013

A novel exonic GHR splicing mutation (c.784G > C) in a patient with classical growth hormone insensitivity syndrome.

Horm Res Paediatr 2013 20;79(1):32-8. Epub 2012 Sep 20.

Department of Pediatric Endocrinology, Turgut Özal Medical Center, İnonu University, Malatya, Turkey.

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https://www.karger.com/Article/FullText/341527
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http://dx.doi.org/10.1159/000341527DOI Listing
July 2013

Identification of a novel heterozygous IGF1 splicing mutation in a large kindred with familial short stature.

Horm Res Paediatr 2012 20;78(1):59-66. Epub 2012 Jul 20.

Section of Pediatric Endocrinology, Indiana University School of Medicine, Indianapolis, IN 46202, USA.

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https://www.karger.com/Article/FullText/337249
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http://dx.doi.org/10.1159/000337249DOI Listing
January 2013

Severe growth deficiency is associated with STAT5b mutations that disrupt protein folding and activity.

Mol Endocrinol 2013 Jan 16;27(1):150-61. Epub 2012 Nov 16.

Department of Biochemistry and Molecular Biology, Oregon Health & Science University, Portland, Oregon 97239-3098, USA.

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http://dx.doi.org/10.1210/me.2012-1275DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3545219PMC
January 2013

Genetic Defects in the Growth Hormone-IGF-I Axis Causing Growth Hormone Insensitivity and Impaired Linear Growth.

Front Endocrinol (Lausanne) 2011 12;2:95. Epub 2011 Dec 12.

Department of Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine and Dentistry London, UK.

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http://dx.doi.org/10.3389/fendo.2011.00095DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3356141PMC
August 2012

Triple A syndrome in a patient with genetic growth hormone insensitivity: phenotypic effects of two genetic disorders.

Horm Res Paediatr 2012 21;77(1):63-8. Epub 2012 Jan 21.

Endocrinology Unit, Hospital Sant Joan de Déu, University of Barcelona, Barcelona, Spain.

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http://dx.doi.org/10.1159/000335235DOI Listing
June 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.

J Clin Endocrinol Metab 2012 May 14;97(5):E830-9. Epub 2012 Mar 14.

Centro de Investigaciones Endocrinológicas (Consejo Nacional de Investigaciones Científicas y Técnicas), Ricardo Gutiérrez Children's Hospital, 1330 Buenos Aires, Argentina.

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http://dx.doi.org/10.1210/jc.2011-2554DOI Listing
May 2012

Intrauterine and postnatal growth failure with normal GH/IGF1 axis and insulin-resistant diabetes in a consanguineous kinship.

Eur J Endocrinol 2012 Mar 14;166(3):521-9. Epub 2011 Dec 14.

Institute of Endocrinology, Metabolism, and Reproduction, Avenida Coruňa N26-191, 1337 y San Ignacio, Casilla 6337 CCI, Quito, Ecuador.

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http://dx.doi.org/10.1530/EJE-11-0769DOI Listing
March 2012

Severe short stature caused by novel compound heterozygous mutations of the insulin-like growth factor 1 receptor (IGF1R).

J Clin Endocrinol Metab 2012 Feb 30;97(2):E243-7. Epub 2011 Nov 30.

The Children’s Hospital at Westmead, Sydney, New South Wales 2145, Australia.

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https://academic.oup.com/jcem/article-lookup/doi/10.1210/jc.
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http://dx.doi.org/10.1210/jc.2011-2142DOI Listing
February 2012

The growth hormone receptor (GHR) c.899dupC mutation functions as a dominant negative: insights into the pathophysiology of intracellular GHR defects.

J Clin Endocrinol Metab 2011 Nov 7;96(11):E1896-904. Epub 2011 Sep 7.

Department of Pediatrics, CDRCP, Oregon Health & Science University, 3181 SW Sam Jackson Park Road, Portland, Oregon 97239-3098, USA.

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https://academic.oup.com/jcem/article-lookup/doi/10.1210/jc.
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http://dx.doi.org/10.1210/jc.2011-1597DOI Listing
November 2011

Evidence for a continuum of genetic, phenotypic, and biochemical abnormalities in children with growth hormone insensitivity.

Endocr Rev 2011 Aug 27;32(4):472-97. Epub 2011 Apr 27.

Department of Endocrinology, Barts and the London School of Medicine and Dentistry, London, United Kingdom.

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http://dx.doi.org/10.1210/er.2010-0023DOI Listing
August 2011

A novel Y332C missense mutation in the intracellular domain of the human growth hormone receptor does not alter STAT5b signaling: redundancy of GHR intracellular tyrosines involved in STAT5b signaling.

Horm Res Paediatr 2011 21;75(3):187-99. Epub 2010 Oct 21.

Department of Pediatrics, Oregon Health and Science University, Portland, OR 97239-3098, USA.

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http://dx.doi.org/10.1159/000320461DOI Listing
July 2011

STAT5b deficiency: an unsuspected cause of growth failure, immunodeficiency, and severe pulmonary disease.

J Pediatr 2011 May 17;158(5):701-8. Epub 2011 Mar 17.

Stanford University School of Medicine, Stanford, CA 94305, USA.

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https://linkinghub.elsevier.com/retrieve/pii/S00223476100115
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http://dx.doi.org/10.1016/j.jpeds.2010.12.042DOI Listing
May 2011

STAT5b deficiency: lessons from STAT5b gene mutations.

Best Pract Res Clin Endocrinol Metab 2011 Feb;25(1):61-75

Department of Pediatrics, Oregon Health Sciences University, Portland, OR 97239, USA.

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http://dx.doi.org/10.1016/j.beem.2010.09.003DOI Listing
February 2011

Acid-labile subunit (ALS) deficiency.

Best Pract Res Clin Endocrinol Metab 2011 Feb;25(1):101-13

Centro de Investigaciones Endocrinológicas, División de Endocrinología, Hospital de Niños R Gutiérrez, Gallo 1330, Buenos Aires, Argentina.

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http://dx.doi.org/10.1016/j.beem.2010.08.010DOI Listing
February 2011

Human acid-labile subunit deficiency: clinical, endocrine and metabolic consequences.

Horm Res 2009 1;72(3):129-41. Epub 2009 Sep 1.

Centro de Investigaciones Endocrinológicas (CEDIE-CONICET), Hospital de Niños R. Gutiérrez, Buenos Aires 1425, Argentina.

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https://www.karger.com/Article/FullText/232486
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http://dx.doi.org/10.1159/000232486DOI Listing
November 2009

Extreme elevation of serum growth hormone-binding protein concentrations resulting from a novel heterozygous splice site mutation of the growth hormone receptor gene.

Horm Res 2009 1;71(5):276-84. Epub 2009 Apr 1.

Department of Pediatrics, Oregon Health & Science University, Portland, OR 97239-3098, USA.

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http://dx.doi.org/10.1159/000208801DOI Listing
August 2009

Familial short stature caused by haploinsufficiency of the insulin-like growth factor i receptor due to nonsense-mediated messenger ribonucleic acid decay.

J Clin Endocrinol Metab 2009 May 24;94(5):1740-7. Epub 2009 Feb 24.

Department of Pediatrics, Oregon Health and Science University, Portland, Oregon 97239-3098, USA.

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https://academic.oup.com/jcem/article-lookup/doi/10.1210/jc.
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http://dx.doi.org/10.1210/jc.2008-1903DOI Listing
May 2009

The growth hormone cascade and its role in mammalian growth.

Horm Res 2009 Apr 29;71 Suppl 2:36-40. Epub 2009 Apr 29.

Lucile Packard Foundation for Children's Health, Stanford University, Palo Alto, CA 94301, USA.

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http://dx.doi.org/10.1159/000192434DOI Listing
April 2009

Growth hormone (GH) insensitivity and insulin-like growth factor-I deficiency in Inuit subjects and an Ecuadorian cohort: functional studies of two codon 180 GH receptor gene mutations.

J Clin Endocrinol Metab 2008 Mar 11;93(3):1030-7. Epub 2007 Dec 11.

Department of Pediatrics, NRC5, Oregon Health and Science University, 3181 SW Sam Jackson Park Road, Portland, Oregon 97239-3098, USA.

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http://dx.doi.org/10.1210/jc.2007-2022DOI Listing
March 2008

IGFBP-3 sensitizes prostate cancer cells to interferon-gamma-induced apoptosis.

Growth Horm IGF Res 2008 Feb 24;18(1):38-46. Epub 2007 Aug 24.

Department of Pediatrics, Oregon Health and Science University, Portland, OR 97239-3098, USA.

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http://dx.doi.org/10.1016/j.ghir.2007.07.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2704207PMC
February 2008

Idiopathic short stature: will genetics influence the choice between GH and IGF-I therapy?

Eur J Endocrinol 2007 Aug;157 Suppl 1:S33-7

Endocrinology Centre, William Harvey Research Institute, Queen Mary, University of London, London, EC1M 6BQ UK.

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http://dx.doi.org/10.1530/EJE-07-0292DOI Listing
August 2007

Defects in growth hormone receptor signaling.

Trends Endocrinol Metab 2007 May-Jun;18(4):134-41. Epub 2007 Mar 27.

Lucile Packard Foundation for Children's Health, 400 Hamilton Avenue, Suite 340, Palo Alto, CA 94201, USA.

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http://dx.doi.org/10.1016/j.tem.2007.03.004DOI Listing
June 2007

In vivo imaging of hepatic growth hormone signaling.

Mol Endocrinol 2006 Nov 27;20(11):2819-30. Epub 2006 Jun 27.

University of Alabama at Birmingham, 1530 3rd Avenue South, BDB 861, Birmingham, Alabama 35294-0012, USA.

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http://dx.doi.org/10.1210/me.2005-0532DOI Listing
November 2006

Interferon-gamma-induced dephosphorylation of STAT3 and apoptosis are dependent on the mTOR pathway.

Exp Cell Res 2006 May 19;312(8):1229-39. Epub 2006 Jan 19.

Department of Pediatrics, Oregon Health and Science University, Portland, OR 97239-3098, USA.

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http://dx.doi.org/10.1016/j.yexcr.2005.12.011DOI Listing
May 2006

Total absence of functional acid labile subunit, resulting in severe insulin-like growth factor deficiency and moderate growth failure.

J Clin Endocrinol Metab 2006 May 28;91(5):1826-31. Epub 2006 Feb 28.

Department of Pediatrics, Oregon Health and Science University, 3181 Southwest Sam Jackson Park Road, Portland, Oregon 97239-3098, USA.

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https://academic.oup.com/jcem/article-lookup/doi/10.1210/jc.
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http://dx.doi.org/10.1210/jc.2005-2842DOI Listing
May 2006

A mutant signal transducer and activator of transcription 5b, associated with growth hormone insensitivity and insulin-like growth factor-I deficiency, cannot function as a signal transducer or transcription factor.

J Clin Endocrinol Metab 2006 Apr 7;91(4):1526-34. Epub 2006 Feb 7.

Department of Pediatrics, NRC5, Oregon Health and Science University, 3181 Southwest Sam Jackson Park Road, Portland, OR 97239-3098, USA.

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http://dx.doi.org/10.1210/jc.2005-2558DOI Listing
April 2006

Aberrant folding of a mutant Stat5b causes growth hormone insensitivity and proteasomal dysfunction.

J Biol Chem 2006 Mar 22;281(10):6552-8. Epub 2005 Nov 22.

Department of Biochemistry and Molecular Biology, Oregon Health & Science University, Portland, Oregon 97239, USA.

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http://dx.doi.org/10.1074/jbc.M510903200DOI Listing
March 2006

Severe growth hormone insensitivity resulting from total absence of signal transducer and activator of transcription 5b.

J Clin Endocrinol Metab 2005 Jul 12;90(7):4260-6. Epub 2005 Apr 12.

Department of Pediatrics, NRC5, Oregon Health & Sciences University, 3181 S.W. Sam Jackson Park Road, Portland, Oregon 97239-3098, USA.

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http://dx.doi.org/10.1210/jc.2005-0515DOI Listing
July 2005

Identification of the first patient with a confirmed mutation of the JAK-STAT system.

Pediatr Nephrol 2005 Mar 2;20(3):303-5. Epub 2005 Feb 2.

Lucile Packard Foundation for Children's Health, 770 Welch Road, Suite 350, Palo Alto, CA 94304, USA.

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http://dx.doi.org/10.1007/s00467-004-1678-7DOI Listing
March 2005

IGFBPs and cancer.

Novartis Found Symp 2004 ;262:215-30; discussion 230-4, 265-8

Department of Pediatrics, Oregon Health & Science University, Portland, OR 97239-3098, USA.

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December 2004

New molecular mechanisms of GH resistance.

Eur J Endocrinol 2004 Aug;151 Suppl 1:S11-5

Lucile Packard Foundation for Children's Health, Palo Alto, California 94304, USA.

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http://dx.doi.org/10.1530/eje.0.151s011DOI Listing
August 2004

Growth hormone insensitivity resulting from post-GH receptor defects.

Growth Horm IGF Res 2004 Jun;14 Suppl A:S35-8

Lucile Packard Foundation for Children's Health, Palo Alto, CA 94304, USA.

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http://linkinghub.elsevier.com/retrieve/pii/S109663740400040
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http://dx.doi.org/10.1016/j.ghir.2004.03.009DOI Listing
June 2004

Toward a molecular basis for idiopathic short stature.

J Clin Endocrinol Metab 2004 Mar;89(3):1066-7

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http://dx.doi.org/10.1210/jc.2004-0092DOI Listing
March 2004

Transcriptional regulation of insulin-like growth factor-I by interferon-gamma requires STAT-5b.

J Biol Chem 2004 Jan 21;279(4):2728-36. Epub 2003 Oct 21.

Department of Pediatrics, Oregon Health and Sciences University, Portland, Oregon 97239-3098, USA.

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http://dx.doi.org/10.1074/jbc.M310495200DOI Listing
January 2004

Growth hormone insensitivity associated with a STAT5b mutation.

N Engl J Med 2003 Sep;349(12):1139-47

Department of Pediatrics, Oregon Health and Science University, Portland, USA.

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http://dx.doi.org/10.1056/NEJMoa022926DOI Listing
September 2003

Altered expression of low affinity insulin-like growth factor binding protein related proteins in hepatoblastoma.

Int J Mol Med 2002 Jun;9(6):645-9

Laboratory for Molecular Development and Tumour Biology Experimental Alcohol and Drug Addiction Section, Department of Clinical Neuroscience, Karolinska Institute, CMM, L8:01, S-171 76 Stockholm, Sweden.

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June 2002

Identification of STAT-1 as a molecular target of IGFBP-3 in the process of chondrogenesis.

J Biol Chem 2002 May 8;277(21):18860-7. Epub 2002 Mar 8.

Department of Pediatrics, Vanderbilt University Medical Center, Nashville, Tennessee 37232-2579, USA.

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http://dx.doi.org/10.1074/jbc.M200218200DOI Listing
May 2002

Differential activation of the IGF binding protein-3 promoter by butyrate in prostate cancer cells.

Endocrinology 2002 May;143(5):1778-88

Department of Pediatrics, School of Medicine, Oregon Health Sciences University, 3181 Southwest Sam Jackson Park Road, Portland, OR 97201-3402, USA.

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http://dx.doi.org/10.1210/endo.143.5.8766DOI Listing
May 2002