scholarly journals OC18.04: Clinical and molecular data in case of prenatal localised overgrowth disorders: major implication of variants in the PI3K‐AKT‐mTOR signalling pathway

2021 ◽  
Vol 58 (S1) ◽  
pp. 52-53
Author(s):  
N. Bourgon ◽  
V. Carmignac ◽  
A. Sorlin ◽  
Y. Duffour ◽  
C. Philippe ◽  
...  
Keyword(s):  
Molecular Data ◽  
Signalling Pathway ◽  
Major Implication ◽  
Mtor Signalling ◽  
Mtor Signalling Pathway

scholarly journals Identification of mutations in the PI3K-AKT-mTOR signalling pathway in patients with macrocephaly and developmental delay and/or autism

2017 ◽  
Vol 8 (1) ◽  
Author(s):  
Kit San Yeung ◽  
Winnie Wan Yee Tso ◽  
Janice Jing Kun Ip ◽  
Christopher Chun Yu Mak ◽  
Gordon Ka Chun Leung ◽  
...  
Keyword(s):  
Developmental Delay ◽  
Signalling Pathway ◽  
Mtor Signalling ◽  
Mtor Signalling Pathway

scholarly journals Insights into the PI3-K-PKB-mTOR signalling pathway from small molecules

2008 ◽  
Vol 1 (1-4) ◽  
pp. 49-62 ◽  
Author(s):  
Richard M. Gunn ◽  
Helen C. Hailes
Keyword(s):  
Small Molecules ◽  
Signalling Pathway ◽  
Mtor Signalling ◽  
Mtor Signalling Pathway

scholarly journals Hnf1α is required for proper gut epithelial endocrine cell specification and controls the mTOR signalling pathway in mice

2010 ◽  
Vol 24 (S1) ◽  
Author(s):  
Francois Boudreau ◽  
Carine R Lussier ◽  
Francois Brial ◽  
Nathalie Rivard ◽  
Nathalie Perreault
Keyword(s):  
Endocrine Cell ◽  
Signalling Pathway ◽  
Cell Specification ◽  
Mtor Signalling ◽  
Mtor Signalling Pathway

scholarly journals Role of the mTOR Signalling Pathway in Human Sepsis-Induced Myocardial Dysfunction

2019 ◽  
Vol 35 (7) ◽  
pp. 875-883 ◽  
Author(s):  
Wei Cheng MM ◽  
Yun Long ◽  
Hao Wang ◽  
Wen Han MM ◽  
Jiahui Zhang ◽  
...  
Keyword(s):  
Myocardial Dysfunction ◽  
Signalling Pathway ◽  
Human Sepsis ◽  
Mtor Signalling ◽  
Mtor Signalling Pathway

scholarly journals PD‐1/PD‐L1 blockade rescue exhausted CD8+ T cells in gastrointestinal stromal tumours via the PI3K/Akt/mTOR signalling pathway

2019 ◽  
Vol 52 (3) ◽  
pp. e12571 ◽  
Author(s):  
Rui Zhao ◽  
Yinghan Song ◽  
Yong Wang ◽  
Yuqian Huang ◽  
Zhigui Li ◽  
...  
Keyword(s):  
T Cells ◽  
Cd8 T Cells ◽  
Signalling Pathway ◽  
Gastrointestinal Stromal Tumours ◽  
Mtor Signalling ◽  
Mtor Signalling Pathway

scholarly journals LncRNA MEG3 inhibits rheumatoid arthritis through miR‐141 and inactivation of AKT/mTOR signalling pathway

2019 ◽  
Vol 23 (10) ◽  
pp. 7116-7120 ◽  
Author(s):  
Guoqing Li ◽  
Ying Liu ◽  
Fanru Meng ◽  
Zhongbin Xia ◽  
Xia Wu ◽  
...  
Keyword(s):  
Rheumatoid Arthritis ◽  
Signalling Pathway ◽  
Mtor Signalling ◽  
Mtor Signalling Pathway

scholarly journals PI3K/Akt/mTOR signalling pathway activation in patients with ER‑positive, metachronous, contralateral breast cancer treated with hormone therapy

2018 ◽  
Author(s):  
Hirofumi Kanaizumi ◽  
Chihiro Higashi ◽  
Yumiko Tanaka ◽  
Mika Hamada ◽  
Wataru Shinzaki ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Hormone Therapy ◽  
Contralateral Breast Cancer ◽  
Contralateral Breast ◽  
Signalling Pathway ◽  
Pathway Activation ◽  
Er Positive ◽  
Mtor Signalling ◽  
Mtor Signalling Pathway

SB365, Pulsatilla saponin D suppresses the proliferation of human colon cancer cells and induces apoptosis by modulating the AKT/mTOR signalling pathway

2013 ◽  
Vol 136 (1) ◽  
pp. 26-33 ◽  
Author(s):  
Mi Kwon Son ◽  
Kyung Hee Jung ◽  
Sang-Won Hong ◽  
Hee-Seung Lee ◽  
Hong-Mei Zheng ◽  
...  
Keyword(s):  
Colon Cancer ◽  
Cancer Cells ◽  
Human Colon ◽  
Signalling Pathway ◽  
Colon Cancer Cells ◽  
Human Colon Cancer ◽  
Human Colon Cancer Cells ◽  
Mtor Signalling ◽  
Mtor Signalling Pathway

10q23.31 microduplication encompassing PTEN decreases mTOR signalling activity and is associated with autosomal dominant primary microcephaly

2018 ◽  
Vol 56 (8) ◽  
pp. 543-547 ◽  
Author(s):  
Danyllo Oliveira ◽  
Gabriela Ferraz Leal ◽  
Andréa L Sertié ◽  
Luiz Carlos Caires Jr ◽  
Ernesto Goulart ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Autism Spectrum ◽  
Signalling Pathway ◽  
Variable Degree ◽  
Primary Microcephaly ◽  
Dominant Form ◽  
Gene And Protein Expression ◽  
Autosomal Dominant Form ◽  
Mtor Signalling ◽  
Mtor Signalling Pathway

BackgroundHereditary primary microcephaly (MCPH) is mainly characterised by decreased occipitofrontal circumference and variable degree of intellectual disability. MCPH with a dominant pattern of inheritance is a rare condition, so far causally linked to pathogenic variants in the ALFY, DPP6, KIF11 and DYRK1A genes.ObjectiveThis study aimed at identifying the causative variant of the autosomal dominant form of MCPH in a Brazilian family with three affected members.MethodsFollowing clinical evaluation of two sibs and their mother presenting with autosomal dominant MCPH, array comparative genome hybridisation was performed using genomic DNA from peripheral blood of the family members. Gene and protein expression studies were carried out in cultured skin fibroblasts.ResultsA 382 kb microduplication at 10q23.31 was detected, encompassing the entire PTEN, KLLN and ATAD1 genes. PTEN haploinsufficiency has been causally associated with macrocephaly and autism spectrum disorder and, therefore, was considered the most likely candidate gene to be involved in this autosomal dominant form of MCPH. In the patients’ fibroblasts, PTEN mRNA and protein were found to be overexpressed, and the phosphorylation patterns of upstream and downstream components of the mammalian target of rapamycin (mTOR) signalling pathway were dysregulated.ConclusionsTaken together, our results demonstrate that the identified submicroscopic 10q23.31 duplication in a family with MCPH leads to markedly increased expression of PTEN and reduced activity of the mTOR signalling pathway. These results suggest that the most probable pathomechanism underlying the microcephaly phenotype in this family involves downregulation of the mTOR pathway through overexpression of PTEN.

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