Varaico: Literature-Extracted Genetic Variants

Gene:STAT5B
Variant:p.F646S
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STAT5B

NM_012448.4:p.F646S

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

41438753 (PubMed )
Supplement: Table1.pdf

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

STAT5B restrains human B-cell differentiation to maintain humoral immune homeostasis.

Pelham SJ et al.

The Journal of Allergy and Clinical Immunology, 2022

STAT5b: A master regulator of key biological pathways.

Smith MR et al.

Frontiers in Immunology, 2022

Human growth disorders associated with impaired GH action: Defects in STAT5B and JAK2.

Hwa V

Molecular and Cellular Endocrinology, 2021

Immune Monitoring of Patients With Primary Immune Regulation Disorders Unravels Higher Frequencies of Follicular T Cells With Different Profiles That Associate With Alterations in B Cell Subsets.

Caldirola MS et al.

Frontiers in Immunology, 2020

Structural Implications of STAT3 and STAT5 SH2 Domain Mutations.

de Araujo ED et al.

Cancers, 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

[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

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

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."