Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

SHORT syndrome due to a novel de novo mutation in PRKCE (Protein Kinase Cɛ) impairing TORC2-dependent AKT activation.

Human molecular genetics - 1 Oct 2017

Alcantara Diana, Elmslie Frances, Tetreault Martine, Bareke Eric, Hartley Taila, Majewski Jacek, Boycott Kym, Innes A Micheil, Dyment David A, O'Driscoll Mark

Abstract excerpt

SHORT syndrome is a rare, recognizable syndrome resulting from heterozygous mutations in PIK3R1 encoding a regulatory subunit of phosphoinositide-3-kinase (PI3K). The condition is characterized by short stature, intrauterine growth restriction, lipoatrophy and a facial gestalt involving a triangular face, deep set eyes, low hanging columella and small chin. PIK3R1 mutations in SHORT syndrome result in reduced...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Dwarfism
Share to Growth Disorders

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hypercalcemia

Share to Mechanistic Target of Rapamycin Complex 2

Share to Metabolic Diseases

Share to Nephrocalcinosis

Share to Protein Kinase C-epsilon

Share to Sirolimus

Source

Identifiers

PMID: 28934384
DOI: 10.1093/hmg/ddx256

Genes

PRKCE
PDK1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

SHORT syndrome due to a novel de novo mutation in PRKCE (Protein Kinase Cɛ) impairing TORC2-dependent AKT activation.PMID 28934384Read ↗

Mutations in PIK3R1 cause SHORT syndrome.Semantic proximity Read ↗

SHORT syndrome with partial lipodystrophy due to impaired phosphatidylinositol 3 kinase signaling.Semantic proximity Read ↗

Exome sequencing identifies a novel mutation in PIK3R1 as the cause of SHORT syndrome.Semantic proximity Read ↗

PIK3R1 mutations cause syndromic insulin resistance with lipoatrophy.Semantic proximity Read ↗

Mechanistic investigation of genotype-phenotype correlations in PIK3R1-related diseasesSemantic proximity Read ↗

APDS2 and SHORT Syndrome in a Teenager with PIK3R1 Pathogenic Variant.Semantic proximity Read ↗

PIK3R1 mutations in SHORT syndrome.Semantic proximity Read ↗

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

A New Homozygous IGF1R Variant Defines a Clinically Recognizable Incomplete Dominant form of SHORT Syndrome.Semantic proximity Read ↗

C-terminal truncation of Pik3r1 in mice models human lipodystrophic insulin resistance uncoupled from dyslipidemiaSemantic proximity Read ↗

Variant PIK3R1 Hypermorphic Mutation and Clinical Phenotypes in a Family with Short Statures, Mild Immunodeficiency and Lymphoma.Semantic proximity Read ↗

SHORT syndrome in two Chinese girls: A case report and review of the literature.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.