SHORT syndrome in a two-year-old girl - case report. (Q33640546)

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19 March 2020

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10 September 2020

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SHORT syndrome in a two-year-old girl - case report (English)

1 reference

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19 March 2020

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developmental disability

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multiple abnormalities

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PubMed ID

28472977

genetic predisposition to disease

2 references

23 July 2020

1 reference

1

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19 March 2020

Agnieszka Polak

4

1 reference

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19 March 2020

Witold Kołłątaj

5

1 reference

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19 March 2020

author name string

Izabela Rysz

2

1 reference

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19 March 2020

Katarzyna Kozyra

3

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19 March 2020

publication date

4 May 2017

7 references

7 March 2019

13 March 2019

24 March 2019

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Italian Journal of Paediatrics

8 references

7 March 2019

13 March 2019

24 March 2019

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43

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19 March 2020

page(s)

44

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issue

1

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Creative Commons Attribution 4.0 International

19 March 2020

copyright license

7 references

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13 March 2019

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on focus list of Wikimedia project

10 September 2020

copyright status

copyrighted

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ScienceSource

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exact match

https://scigraph.springernature.com/pub.10.1186/s13052-017-0362-z

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cites work

PI3K/Akt is involved in brown adipogenesis mediated by growth differentiation factor-5 in association with activation of the Smad pathway.

1 reference

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Exome sequencing identifies a novel mutation in PIK3R1 as the cause of SHORT syndrome

14 July 2018

1 reference

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Adipose tissue insulin resistance due to loss of PI3K p110α leads to decreased energy expenditure and obesity

14 July 2018

1 reference

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Rapid induction of apoptosis by PI3K inhibitors is dependent upon their transient inhibition of RAS-ERK signaling.

14 July 2018

1 reference

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Mutations in PIK3R1 cause SHORT syndrome

14 July 2018

1 reference

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SHORT syndrome with partial lipodystrophy due to impaired phosphatidylinositol 3 kinase signaling

14 July 2018

1 reference

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PIK3R1 mutations cause syndromic insulin resistance with lipoatrophy

14 July 2018

1 reference

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Somatic mutations of PIK3R1 promote gliomagenesis

14 July 2018

1 reference

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Targeting the PI3K/AKT/mTOR signaling axis in children with hematologic malignancies

14 July 2018

1 reference

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Targeting brain cancer: advances in the molecular pathology of malignant glioma and medulloblastoma

14 July 2018

1 reference

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Somatic mutations in p85alpha promote tumorigenesis through class IA PI3K activation

14 July 2018

1 reference

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Targeting the phosphoinositide 3-kinase pathway in cancer

14 July 2018

1 reference

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Involvement of PI3K/Akt pathway in cell cycle progression, apoptosis, and neoplastic transformation: a target for cancer chemotherapy.

14 July 2018

1 reference

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14 July 2018

1 reference

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PI 3-kinase: structural and functional analysis of intersubunit interactions

14 July 2018

1 reference

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The SHORT syndrome: further delineation and natural history

14 July 2018

1 reference

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PIK3R1 mutations in SHORT syndrome.

14 July 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13052-017-0362-Z

Short syndrome-an expanding phenotype

21 January 2018

1 reference

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Autosomal dominant PIK3R1 mutations cause SHORT syndrome

21 January 2018

1 reference

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Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: towards recommendation for molecular testing and management

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13052-017-0362-Z

Rieger anomaly and congenital glaucoma in the SHORT syndrome

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/28472977

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1186/S13052-017-0362-Z

1 reference

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Dimensions Publication ID

19 March 2020

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28472977%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

1 reference