Exploring the Micro-Mosaic Landscape of

FGFR3 achondroplasia congenital disorders driver mutations germline mutagenesis receptor tyrosine kinase thanatophoric dysplasia

Journal

Genes
ISSN: 2073-4425
Titre abrégé: Genes (Basel)
Pays: Switzerland
ID NLM: 101551097

Informations de publication

Date de publication:
30 Jan 2024
Historique:
received: 03 01 2024
revised: 25 01 2024
accepted: 27 01 2024
medline: 24 2 2024
pubmed: 24 2 2024
entrez: 24 2 2024
Statut: epublish

Résumé

Advanced paternal age increases the risk of transmitting de novo germline mutations, particularly missense mutations activating the receptor tyrosine kinase (RTK) signalling pathway, as exemplified by the

Identifiants

DOI: 10.3390/genes15020191 PMID: 38397181
pubmed: 38397181
pii: genes15020191
doi: 10.3390/genes15020191
pii:
doi:

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Subventions

Organisme : FWF Austrian Science Fund
ID : SFB F-8809-B
Organisme : FWF Austrian Science Fund
ID : P30867000
Organisme : FWF Austrian Science Fund
ID : FWFP25525000

Auteurs

Yasmin Striedner (Y)

Institute of Biophysics, Johannes Kepler University, 4020 Linz, Austria.
ORCID: 0000-0002-2191-9783

Barbara Arbeithuber (B)

Institute of Biophysics, Johannes Kepler University, 4020 Linz, Austria.
Department of Gynecology, Obstetrics and Gynecological Endocrinology, Johannes Kepler University, 4020 Linz, Austria.
ORCID: 0000-0001-8367-1560

Sofia Moura (S)

Institute of Biophysics, Johannes Kepler University, 4020 Linz, Austria.
John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL 33136, USA.
ORCID: 0000-0002-9000-2290

Elisabeth Nowak (E)

Institute of Biophysics, Johannes Kepler University, 4020 Linz, Austria.

Ronja Reinhardt (R)

Institute of Biophysics, Johannes Kepler University, 4020 Linz, Austria.
Department of Structural and Computational Biology, Max Perutz Labs, Campus Vienna Biocenter 5, 1030 Vienna, Austria.

Leila Muresan (L)

Department of Physiology, Development and Neuroscience, University of Cambridge, Cambridge CB2 2EL, UK.
Faculty of Science and Engineering, Anglia Ruskin University, Cambridge CB1 1PT, UK.

Renato Salazar (R)

Institute of Biophysics, Johannes Kepler University, 4020 Linz, Austria.
ORCID: 0000-0001-8436-9304

Thomas Ebner (T)

Department of Gynecology, Obstetrics and Gynecological Endocrinology, Johannes Kepler University, 4020 Linz, Austria.

Irene Tiemann-Boege (I)

Institute of Biophysics, Johannes Kepler University, 4020 Linz, Austria.
ORCID: 0000-0002-3621-7020

Classifications MeSH