Paradoxical dominant negative activity of an immunodeficiency-associated activating PIK3R1 variant

Authors: Patsy R Tomlinson, Rachel G Knox, Olga Perisic, Helen Su, Gemma V Brierley, Roger L Williams, Robert K Semple

Source: eLife, Vol 13 (2025)

Subject Terms: PIK3R1, immunodeficiency, APDS2, SHORT syndrome, insulin resistance, phosphoinositide 3-kinase, Medicine, Science, Biology (General), QH301-705.5

File Description: electronic resource

Relation: https://elifesciences.org/articles/94420; https://doaj.org/toc/2050-084X

Access URL: https://doaj.org/article/6ef8193e2aa54dc7b4bb81d70c0a0e57

Atypical diabetes arising from SHORT syndrome: a case report

Authors: Aili Wang, Miao Xu, Li Li, Jialin Li

Source: Frontiers in Endocrinology, Vol 15 (2024)

Subject Terms: SHORT syndrome, PIK3R1, whole-exome sequencing, insulin resistance, therapy, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fendo.2024.1467364/full; https://doaj.org/toc/1664-2392

Access URL: https://doaj.org/article/1f92b8313fcb4dba94bef1fc6573f0c3

Novel PIK3R1 mutation of SHORT syndrome: A case report with a 6‐month follow up

Authors: Xiaofei Yin, Jidong Liu, Ruiying Feng, Mingyue Xu, Jinbo Liu

Source: Journal of Diabetes Investigation, Vol 12, Iss 10, Pp 1919-1922 (2021)

Subject Terms: Insulin resistance, PIK3R1, SHORT syndrome, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

File Description: electronic resource

Relation: https://doaj.org/toc/2040-1116; https://doaj.org/toc/2040-1124

Access URL: https://doaj.org/article/9229903f2ae34454886686640416fa04

A novel PIK3R1 mutation of SHORT syndrome in a Chinese female with diffuse thyroid disease: a case report and review of literature

Authors: Liying Sun, Qianwen Zhang, Qun Li, Yijun Tang, Yirou Wang, Xin Li, Niu Li, Jian Wang, Xiumin Wang

Source: BMC Medical Genetics, Vol 21, Iss 1, Pp 1-7 (2020)

Subject Terms: SHORT syndrome, PIK3R1 gene, Whole-exome sequencing, Novel variant, Case report, Internal medicine, RC31-1245, Genetics, QH426-470

File Description: electronic resource

Relation: http://link.springer.com/article/10.1186/s12881-020-01146-3; https://doaj.org/toc/1471-2350

Access URL: https://doaj.org/article/19226a2d562a4da69d173cd62331ec97

Metformin paradoxically worsens insulin resistance in SHORT syndrome

Authors: Krzysztof C. Lewandowski, Katarzyna Dąbrowska, Maria Brzozowska, Joanna Kawalec, Andrzej Lewiński

Source: Diabetology & Metabolic Syndrome, Vol 11, Iss 1, Pp 1-4 (2019)

Subject Terms: SHORT syndrome, Metformin, Insulin resistance, Nutritional diseases. Deficiency diseases, RC620-627

File Description: electronic resource

Relation: http://link.springer.com/article/10.1186/s13098-019-0477-z; https://doaj.org/toc/1758-5996

Access URL: https://doaj.org/article/dcd3100fef44401483272794d253e94c

Transient Neonatal Diabetes Mellitus in SHORT Syndrome: A Case Report

Authors: Shin-Hee Kim, Minsung Kim, Jisook Yim, Myungshin Kim, Dae-Hyun Jang

Source: Frontiers in Pediatrics, Vol 9 (2021)

Subject Terms: SHORT syndrome, PIK3R1 gene, transient neonatal diabetes mellitus, insulin resistance, dysmorphic feature, Pediatrics, RJ1-570

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fped.2021.650920/full; https://doaj.org/toc/2296-2360

Access URL: https://doaj.org/article/afa261693ba4428f8be7c0ae71a0097d

The first SHORT syndrome in a Taiwanese boy: A case report and review of the literature

Authors: Chung-Lin Lee, Chih-Kuang Chuang, Huei-Ching Chiu, Ru-Yi Tu, Yun-Ting Lo, Ya-Hui Chang, Hsiang-Yu Lin, Shuan-Pei Lin

Source: Molecular Genetics and Metabolism Reports, Vol 27, Iss , Pp 100768- (2021)

Subject Terms: PIK3R1, Short stature, SHORT syndrome, Whole exome sequencing, Taiwan, Medicine (General), R5-920, Biology (General), QH301-705.5

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2214426921000628; https://doaj.org/toc/2214-4269

Access URL: https://doaj.org/article/b168780cf3bd4d85b8d8c41060a2b584

SHORT syndrome in two Chinese girls: A case report and review of the literature

Authors: Yanhong Zhang, Baolan Ji, Jinsheng Li, Yanying Li, Mei Zhang, Bo Ban

Source: Molecular Genetics & Genomic Medicine, Vol 8, Iss 9, Pp n/a-n/a (2020)

Subject Terms: diabetes, insulin resistance, PIK3R1, short stature, SHORT syndrome, whole exome sequencing, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/2324-9269

Access URL: https://doaj.org/article/1dd24b95761942c7926abc1635560939

C1q deficiency in activated PI3Kδ syndrome type 2.

Authors: Kimberly Gilmour, Carsten Speckmann, Peter Olbrich, Sira Nanthapisal, Ying Hong

Source: Frontiers in Immunology, Vol 10 (2019)

Subject Terms: immunodeficiency, hyper-IgM syndrome, SHORT syndrome, C1q deficiency, activated PI3Kδ syndrome type 2, Digital vasculitis, Immunologic diseases. Allergy, RC581-607

File Description: electronic resource

Relation: http://journal.frontiersin.org/Journal/10.3389/fimmu.2019.02589/full; https://doaj.org/toc/1664-3224

Access URL: https://doaj.org/article/89a3b39b7b50495d8e711bf999d533b0

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