Skip to main content

Development and disease

This section considers manuscripts on all aspects of developmental biology studied in a disease context including but not limited to developmental disorders, neurodegenerative diseases, disease modelling including iPSC disease modelling, stem cell therapy, mutational studies (including knockout mice) and gene editing in a developmental disease context. 

  1. Heparan sulfate proteoglycan 2 (HSPG2) encodes for perlecan, a large proteoglycan that plays an important role in cartilage formation, cell adhesion, and basement membrane stability. Mutations in HSPG2 have been ...

    Authors: Barbara S. Castellanos, Nayeli G. Reyes-Nava and Anita M. Quintana

    Citation: BMC Developmental Biology 2021 21:7

    Content type: Research article

    Published on:

  2. Our previous study have shown that the PSMD11 protein was an important survival factor for cancer cells except for its key role in regulation of assembly and activity of the 26S proteasome. To further investig...

    Authors: Linlin Zhao, Jinming Zhao, Yingying Zhang, Lele Wang, Longyan Zuo, Airu Niu, Wei Zhang, Xia Xue, Suhong Zhao, Chao Sun, Kailin Li, Jue Wang, Zhimin Bian, Xiaogang Zhao, Dieter Saur, Barbara Seidler…

    Citation: BMC Developmental Biology 2021 21:4

    Content type: Methodology article

    Published on:

  3. Joubert syndrome and related disorders (JSRD) and Jeune syndrome are multisystem ciliopathy disorders with overlapping phenotypes. There are a growing number of genetic causes for these rare syndromes, includi...

    Authors: L. Powell, M. Barroso-Gil, G. J. Clowry, L. A. Devlin, E. Molinari, S. A. Ramsbottom, C. G. Miles and J. A. Sayer

    Citation: BMC Developmental Biology 2020 20:26

    Content type: Research article

    Published on:

  4. Archipelago (Ago) is a Drosophila homolog of mammalian F-box and WD repeat domain-containing 7 (FBW7, also known as FBXW7). In previous studies, FBW7 has been addressed as a tumor suppressor mediating ubiquitin-d...

    Authors: Sujin Nam and Kyung-Ok Cho

    Citation: BMC Developmental Biology 2020 20:14

    Content type: Research article

    Published on:

\