Associated Papers
STAT5B leukemic mutations, altering SH2 tyrosine 665, have opposing impacts on immune gene programs.
Lee HK et al.
Life Science Alliance, 2025
Disease-Associated Mutations of the STAT5B SH2 Domain Regulate Cytokine-Driven Enhancer Function and Mammary Development.
Lee HK et al.
Journal of Mammary Gland Biology and Neoplasia, 2025
JAK/STAT in human diseases: a common axis in immunodeficiencies and hematological disorders.
Djidjik R et al.
Frontiers in Immunology, 2025
STAT5B leukemic mutations, altering SH2 tyrosine 665, have opposing impacts on immune gene programs.
Lee HK et al.
Biorxiv : the Preprint Server for Biology, 2024
STAT5B SH2 variants disrupt mammary enhancers and the stability of genetic programs during pregnancy.
Lee HK et al.
Biorxiv : the Preprint Server for Biology, 2024
An in vivo functional assay to characterize human STAT5B genetic variants during zebrafish development.
Landi E et al.
Human Molecular Genetics, 2023
STAT5b: A master regulator of key biological pathways.
Smith MR et al.
Frontiers in Immunology, 2022
Genetic causes of growth hormone insensitivity beyond GHR.
Hwa V et al.
Reviews in Endocrine & Metabolic Disorders, 2021
Human growth disorders associated with impaired GH action: Defects in STAT5B and JAK2.
Hwa V
Molecular and Cellular Endocrinology, 2021
Developmental Adaptive Immune Defects Associated with STAT5B Deficiency in Three Young Siblings.
Foley CL et al.
Journal of Clinical Immunology, 2021
Structural Implications of STAT3 and STAT5 SH2 Domain Mutations.
de Araujo ED et al.
Cancers, 2019
Primary immunodeficiency and autoimmunity: A comprehensive review.
Amaya-Uribe L et al.
Journal of Autoimmunity, 2019
Nonclassical GH Insensitivity: Characterization of Mild Abnormalities of GH Action.
Storr HL et al.
Endocrine Reviews, 2019
Signal transducer and activator of transcription 5B deficiency due to a novel missense mutation in the coiled-coil domain.
Acres MJ et al.
The Journal of Allergy and Clinical Immunology, 2019
Dominant-negative STAT5B mutations cause growth hormone insensitivity with short stature and mild immune dysregulation.
Klammt J et al.
Nature Communications, 2018
STAT5B deficiency: Impacts on human growth and immunity.
Hwa V
Growth Hormone & Igf Research : Official Journal of the Growth Hormone Research Society and the International Igf Research Society, 2016
STAT5B mutations in heterozygous state have negative impact on height: another clue in human stature heritability.
Scalco RC et al.
European Journal of Endocrinology, 2015
Long-term follow-up of STAT5B deficiency in three argentinian patients: clinical and immunological features.
Bezrodnik L et al.
Journal of Clinical Immunology, 2015
Differentiating the roles of STAT5B and STAT5A in human CD4+ T cells.
Jenks JA et al.
Clinical Immunology (orlando, Fla.), 2013
[STAT5B deficiency: a new growth hormone insensitivity syndrome associated to immunological dysfunction].
Scalco RC et al.
Arquivos Brasileiros De Endocrinologia E Metabologia, 2013
Severe growth deficiency is associated with STAT5b mutations that disrupt protein folding and activity.
Varco-Merth B et al.
Molecular Endocrinology (baltimore, Md.), 2013
Current issues on molecular diagnosis of GH signaling defects.
Feigerlova E et al.
Endocrine Development, 2013
Immune deficiency and autoimmunity.
Atkinson TP
Current Opinion in Rheumatology, 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.
Scaglia PA et al.
The Journal of Clinical Endocrinology and Metabolism, 2012
The STAT5b Pathway Defect and Autoimmunity.
Kanai T et al.
Frontiers in Immunology, 2012
Evidence for a continuum of genetic, phenotypic, and biochemical abnormalities in children with growth hormone insensitivity.
David A et al.
Endocrine Reviews, 2011
STAT5b deficiency: an unsuspected cause of growth failure, immunodeficiency, and severe pulmonary disease.
Nadeau K et al.
The Journal of Pediatrics, 2011
Genetic Defects in the Growth Hormone-IGF-I Axis Causing Growth Hormone Insensitivity and Impaired Linear Growth.
Savage MO et al.
Frontiers in Endocrinology, 2011
The growth hormone receptor in growth.
Bougnères P et al.
Endocrinology and Metabolism Clinics of North America, 2007
Growth hormone insensitivity and severe short stature in siblings: a novel mutation at the exon 13-intron 13 junction of the STAT5b gene.
Hwa V et al.
Hormone Research, 2007
Genetic defects of the growth-hormone-IGF axis associated with growth hormone insensitivity.
Woods K
Endocrine Development, 2007
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.
Fang P et al.
The Journal of Clinical Endocrinology and Metabolism, 2006
Severe growth hormone insensitivity resulting from total absence of signal transducer and activator of transcription 5b.
Hwa V et al.
The Journal of Clinical Endocrinology and Metabolism, 2005
Growth hormone deficiency and related disorders: insights into causation, diagnosis, and treatment.
Dattani M et al.
Lancet (london, England), 2004