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List of works by Vivian Hwa

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

scientific article published on 16 March 2016

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

scientific article published on 05 February 2019

A Novel Mutation in Insulin-Like Growth Factor 1 Receptor (c.641-2A>G) Is Associated with Impaired Growth, Hypoglycemia, and Modified Immune Phenotypes

scientific article published on 28 October 2020

A Successful HSCT in a Girl with Novel LRBA Mutation with Refractory Celiac Disease.

scientific article published on 19 December 2015

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

scientific article published on 7 February 2006

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

scientific article

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

scientific article published on 26 November 2013

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

scientific article published on 21 October 2010

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

scientific article published on 20 September 2012

A novel insulin-like growth factor (IGF)-independent role for IGF binding protein-3 in mesenchymal chondroprogenitor cell apoptosis

scientific article (publication date: May 2003)

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

scientific article published on 14 March 2012

A novel mutation in IGFALS, c.380T>C (p.L127P), associated with short stature, delayed puberty, osteopenia and hyperinsulinaemia in two siblings: insights into the roles of insulin growth factor-1 (IGF1).

scientific article published on 13 April 2013

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

scientific article

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

scientific article

Acid-labile subunit (ALS) deficiency.

scientific article published on February 2011

Adrenal Insufficiency, Sex Reversal, and Angelman Syndrome due to Uniparental Disomy Unmasking a Mutation in CYP11A1.

scientific article published on 22 March 2018

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

scientific article published on 5 March 2015

Anthropometric and biochemical correlates of PAPP-A2, free IGF-I, and IGFBP-3 in childhood

scientific article published on 01 March 2020

Antiproliferative effects of insulin-like growth factor-binding protein-3 in mesenchymal chondrogenic cell line RCJ3.1C5.18. relationship to differentiation stage

scientific article

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

scientific article published on 7 July 2010

Clinical Characterization of Patients With Autosomal Dominant Short Stature due to Aggrecan Mutations.

scientific article

Connective tissue growth factor/IGF-binding protein-related protein-2 is a mediator in the induction of fibronectin by advanced glycosylation end-products in human dermal fibroblasts

scientific article published on 01 April 2002

Current issues on molecular diagnosis of GH signaling defects

scientific article published on February 2013

Cutting edge: Decreased accumulation and regulatory function of CD4+ CD25(high) T cells in human STAT5b deficiency

scientific article published in September 2006

De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism

scientific article published on 28 March 2019

Defects in growth hormone receptor signaling

scientific article published on 27 March 2007

Developmental Adaptive Immune Defects Associated with STAT5B Deficiency in Three Young Siblings

scientific article published on 22 October 2020

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

scientific article

Differentiating the roles of STAT5B and STAT5A in human CD4+ T cells.

scientific article

Dominant-negative STAT5B mutations cause growth hormone insensitivity with short stature and mild immune dysregulation.

scientific article

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

scientific article published on 27 April 2011

Expanding Genetic and Functional Diagnoses of IGF1R Haploinsufficiencies

scientific article published on 10 April 2017

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

scientific article published in April 2009

Familial Short Stature Caused by Haploinsufficiency of The Insulin-like Growth Factor 1 Receptor Due to Nonsense-Mediated mRNA Decay.

scientific article

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

scientific article published on 24 February 2009

Gain-of-function DNMT3A mutations cause microcephalic dwarfism and hypermethylation of Polycomb-regulated regions

scientific article published on 26 November 2018

Generation of anti-insulin-like growth factor-binding protein-related protein 1 (IGFBP-rP1/MAC25) monoclonal antibodies and immunoassay: quantification of IGFBP-rP1 in human serum and distribution in human fluids and tissues

scientific article (publication date: July 2003)

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

scientific article

Genetic analysis of GHR should contain sequencing of all coding exons and specific intron sequences, and screening for exon deletions.

scientific article published on 3 December 2013

Genetic analysis of short children with apparent growth hormone insensitivity

scientific article published on 06 June 2012

Genetic causes of growth hormone insensitivity beyond GHR

scientific article published on 08 October 2020

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.

scientific article

Growth hormone insensitivity and severe short stature in siblings: a novel mutation at the exon 13-intron 13 junction of the STAT5b gene

scientific article

Growth hormone insensitivity associated with a STAT5b mutation

scientific article published on 01 September 2003

Growth hormone insensitivity resulting from post-GH receptor defects

scientific article

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

scientific article published on September 2009

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

scientific article published on 22 January 2013

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

scientific article published on 13 January 2014

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

scientific article published on 24 August 2007

IGFBPs and cancer.

scientific article

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

scientific article

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

scientific article

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

scientific article published on 20 July 2012

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

scientific article

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

scientific article

Impact of heterozygosity for acid-labile subunit (IGFALS) gene mutations on stature: results from the international acid-labile subunit consortium.

scientific article published on 30 June 2010

In vivo imaging of hepatic growth hormone signaling

scientific article published on 27 June 2006

Insulin resistance is associated with increased serum concentration of IGF-binding protein-related protein 1 (IGFBP-rP1/MAC25).

scientific article published in August 2006

Insulin-like growth factor binding protein-related protein 1 (IGFBP-rP1/MAC25) is linked to endothelial-dependent vasodilation in high-ferritin type 2 diabetes

scientific article published on 10 March 2007

Interaction of IGF-binding protein-related protein 1 with a novel protein, neuroendocrine differentiation factor, results in neuroendocrine differentiation of prostate cancer cells

scientific article (publication date: September 2001)

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

scientific article published on 19 January 2006

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

scientific article published on December 14, 2011

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

scientific article

Large-scale pooled next-generation sequencing of 1077 genes to identify genetic causes of short stature

scientific article published on 14 June 2013

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

scientific article published on 01 June 2019

Mutations in TKT Are the Cause of a Syndrome Including Short Stature, Developmental Delay, and Congenital Heart Defects

scientific article published on June 2016

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

scientific article published on 22 February 2016

New molecular mechanisms of GH resistance

scientific article published in August 2004

Nonclassical GH Insensitivity: Characterization of Mild Abnormalities of GH Action

scientific article published on 01 April 2019

Novel Dominant-Negative GH Receptor Mutations Expands the Spectrum of GHI and IGF-I Deficiency.

scientific article published on 8 March 2017

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

scientific article

Novel microcephalic primordial dwarfism disorder associated with variants in the centrosomal protein ninein

scientific article

OR07-5 A Cross-Sectional Study of IGF-I Bioavailability through Childhood: Associations with PAPP-A2 and Anthropometric Data.

scientific article

OR07-6 Integrating Targeted Bioinformatic Searches of the Electronic Health Records and Genomic Testing Identifies a Molecular Diagnosis in Three Patients with Undiagnosed Short Stature.

scientific article published on 30 April 2019

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

scientific article published on 28 May 2018

Partial growth hormone insensitivity and dysregulatory immune disease associated with de novo germline activating STAT3 mutations

scientific article published on 25 January 2018

Pharmacokinetics of IGF-1 in PAPP-A2-Deficient Patients, Growth Response, and Effects on Glucose and Bone Density.

scientific article

Primary growth hormone (GH) insensitivity and insulin-like growth factor deficiency caused by novel compound heterozygous mutations of the GH receptor gene: genetic and functional studies of simple and compound heterozygous states

scientific article published on 03 April 2007

Rare CNVs provide novel insights into the molecular basis of GH and IGF-1 insensitivity

scientific article published on 01 December 2020

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

scientific article published on June 2015

STAT5b Deficiency: An Unsuspected Cause of Growth Failure, Immunodeficiency, and Severe Pulmonary Disease ⬇️

scientific article published on March 17, 2011

STAT5b deficiency: Lessons from STAT5b gene mutations ⬇️

scientific article published on February 1, 2011

Severe Growth Deficiency is Associated with STAT5b Mutations that Disrupt Protein Folding and Activity ⬇️

scientific article published on November 16, 2012

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

scientific article published on 21 January 2016

Severe growth failure associated with a novel heterozygous nonsense mutation in the GHR transmembrane domain leading to elevated growth hormone binding protein

scientific article published on 22 January 2020

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

scientific article

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

scientific article published on 30 November 2011

Targeted Searches of the Electronic Health Record and Genomics Identify an Etiology in Three Patients with Short Stature and High IGF-I Levels

scientific article published on 20 December 2019

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

scientific article published on 24 March 2014

The Growth Hormone Receptor (GHR)c.899dupCMutation Functions as a Dominant Negative: Insights into the Pathophysiology of IntracellularGHRDefects ⬇️

scientific article published on September 7, 2011

The growth hormone cascade and its role in mammalian growth

scientific article published on 29 April 2009

Three novel IGFALS gene mutations resulting in total ALS and severe circulating IGF-I/IGFBP-3 deficiency in children of different ethnic origins

scientific article published on 08 January 2009

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

scientific article published on 28 February 2006

Toward a molecular basis for idiopathic short stature

scientific article published on 01 March 2004

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

scientific article published on 21 October 2003

Treatment of Short Stature in Aggrecan-deficient Patients With Recombinant Human Growth Hormone: 1-Year Response

scientific article published in 2021

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

scientific article

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

scientific article published on 02 June 2016

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

scientific article published on 04 July 2017

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