Varaico: Literature-Extracted Genetic Variants

Gene:STAT5B
Variant:p.L142_Q143delFs
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STAT5B

NM_012448.4:p.L142_Q143delFs

Associated Papers

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

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

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

Current issues on molecular diagnosis of GH signaling defects.

Feigerlova E et al.

Endocrine Development, 2013

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

A novel STAT5B mutation causing GH insensitivity syndrome associated with hyperprolactinemia and immune dysfunction in two male siblings.

Pugliese-Pires PN et al.

European Journal of Endocrinology, 2010

Growth hormone insensitivity with immune dysfunction caused by a STAT5B mutation in the south of Brazil: evidence for a founder effect.

Scalco RC et al.

Genetics and Molecular Biology, 0

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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."