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Interstitial Lung Disease in an Adolescent Associated With a Novel STAT5B Mutation.

作者信息

Gupta Samriti, Mandal Anita, Jat Kana Ram

机构信息

Department of Pediatrics, All India Institute of Medical Sciences (AIIMS), New Delhi; and Department of Pediatrics, AIIMS, Bilaspur, Himachal Pradesh.

Department of Pediatrics, All India Institute of Medical Sciences (AIIMS), New Delhi.

出版信息

Indian Pediatr. 2023 Mar 15;60(3):237-238.

PMID:36916364
Abstract
摘要

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Interstitial Lung Disease in an Adolescent Associated With a Novel STAT5B Mutation.一名青少年的间质性肺病与一种新的 STAT5B 突变相关。
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STAT5B mutations in heterozygous state have negative impact on height: another clue in human stature heritability.杂合状态下的STAT5B突变对身高有负面影响：人类身高遗传性的又一线索。
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Novel activating STAT5B mutations as putative drivers of T-cell acute lymphoblastic leukemia.新型激活型STAT5B突变作为T细胞急性淋巴细胞白血病的潜在驱动因素
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[STAT5B deficiency: a new growth hormone insensitivity syndrome associated to immunological dysfunction].[信号转导和转录激活因子5B缺乏症：一种与免疫功能障碍相关的新型生长激素不敏感综合征]
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引用本文的文献

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Disease-Associated Mutations of the STAT5B SH2 Domain Regulate Cytokine-Driven Enhancer Function and Mammary Development.STAT5B SH2结构域的疾病相关突变调控细胞因子驱动的增强子功能和乳腺发育。
J Mammary Gland Biol Neoplasia. 2025 Mar 31;30(1):7. doi: 10.1007/s10911-025-09582-8.
2
STAT5B SH2 variants disrupt mammary enhancers and the stability of genetic programs during pregnancy.STAT5B SH2变异体在孕期破坏乳腺增强子及遗传程序的稳定性。
bioRxiv. 2024 May 9:2024.05.06.592736. doi: 10.1101/2024.05.06.592736.