Translating multiscale research in rare disease-Reference-Cited by-同舟云学术

Translating multiscale research in rare disease

Published:2024-06-01 Issue:6 Volume:17 Page:
ISSN:1754-8403
Container-title:Disease Models & Mechanisms
language:en
Short-container-title:

Author:

Hooper Kirsty M.¹^ORCID,Justice Monica J.²^ORCID,Lek Monkol³^ORCID,Liu Karen J.⁴^ORCID,Rauen Katherine A.⁵⁶^ORCID

Affiliation:

1. The Company of Biologists 1 , Bidder Building, Station Road, Histon, Cambridge CB24 9LF , UK

2. The Hospital for Sick Children 2 Program in Genetics and Genome Biology , , Toronto, Ontario, M5G 0A4 , Canada

3. Yale University School of Medicine 3 Department of Genetics , , New Haven, CT 06510 , USA

4. King's College London Dental Institute, Guy's Hospital 4 Department of Craniofacial Development and Stem Cell Biology , , London SE1 9RT , UK

5. University of California Davis 5 Department of Pediatrics, Division of Genomic Medicine , , Sacramento, CA 95817 , USA

6. University of California Davis MIND Institute 6 , Sacramento, CA 95817 , USA

Abstract

Summary: This Editorial introduces DMM's new Special Issue on ‘Translating Multiscale Research in Rare Disease’. The Guest Editors reflect on how articles in the issue advance the rare disease research field.

Publisher

The Company of Biologists

Link

https://journals.biologists.com/dmm/article-pdf/doi/10.1242/dmm.052009/3554893/dmm052009.pdf

Reference27 articles.

1. Impaired polyamine metabolism causes behavioral and neuroanatomical defects in a mouse model of Snyder–Robinson syndrome;Akinyele;Dis. Model. Mech.,2024

2. Smad4 restricts injury-provoked biliary proliferation and carcinogenesis;Alexander;Dis. Model. Mech.,2024

3. Identification of genetic suppressors for a BSCL2 lipodystrophy pathogenic variant in Caenorhabditis elegans;Bai;Dis. Model. Mech.,2024

4. Fbrsl1 is required for heart development in Xenopus laevis and de novo variants in FBRSL1 can cause human heart defects;Berger;Dis. Model. Mech.,2024

5. Hyperactivation of MEK1 in cortical glutamatergic neurons results in projection axon deficits and aberrant motor learning;Bjorklund;Dis. Model. Mech.,2004