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Volume 7, Issue 5
May 2014
Issue Cover
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    Cover Image

    issue cover
    Cover: Usher proteins colocalise with intraflagellar transport proteins in the cell bodies of mechanosensory hair cells. Confocal section of the anterior macular of the zebrafish inner ear showing Harmonin (green), Ift88 (red) and F-actin (blue). Orientation: anterior to the right, apical to the top. Harmonin and Ift88 assemble into a complex (yellow) within the cell bodies. Assembly of the Harmonin-Ift88 complex is required for proper trafficking of other Usher proteins and for mechanoreceptor development (apical blue labelling). See article by Blanco-Sánchez et al. on page 547.
  • PDF Icon PDF LinkTable of contents
ISSN 1754-8403
EISSN 1754-8411
In this issue

IN THIS ISSUE

RUNX2: a prognostic biomarker for triple-negative breast cancer?
View articletitled, RUNX2: a prognostic biomarker for triple-negative breast cancer?
Mitochondrial defects potentiate seizure development in Wolf-Hirschhorn syndrome
View articletitled, Mitochondrial defects potentiate seizure development in Wolf-Hirschhorn syndrome

EDITORIAL

Integrating pathology into human disease modelling – how to eat the elephant
Cheryl L. Scudamore
View articletitled, Integrating pathology into human disease modelling – how to eat the elephant
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A MODEL FOR LIFE

Towards a systems-level understanding of aging and cancer: an interview with Dirk Bohmann

The Bohmann lab, based at the University of Rochester Medical Center in New York, uses Drosophila to explore the cross-talk between stress and metabolic regulation, with the goal of understanding how the signaling pathways involved can drive aging, cancer and other degenerative pathologies. In this interview, Dirk Bohmann describes his motives for moving into the fly field, explains how the study of aging can give important insights into complex disease mechanisms, and advocates using a systems-biology approach to advance drug discovery.

View articletitled, Towards a systems-level understanding of aging and cancer: an interview with Dirk Bohmann
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REVIEW

Restoring the balance: immunotherapeutic combinations for autoimmune disease
Dawn E. Smilek,Mario R. Ehlers,Gerald T. Nepom
View articletitled, Restoring the balance: immunotherapeutic combinations for autoimmune disease
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RESEARCH ARTICLES

Histopathology reveals correlative and unique phenotypes in a high-throughput mouse phenotyping screen
Hibret A. Adissu,Jeanne Estabel,David Sunter,Elizabeth Tuck,Yvette Hooks,Damian M. Carragher,Kay Clarke,Natasha A. Karp,Sanger Mouse Genetics Project,Susan Newbigging,Nora Jones,Lily Morikawa,Jacqueline K. White,Colin McKerlie
View articletitled, Histopathology reveals correlative and unique phenotypes in a high-throughput mouse phenotyping screen
Supplementary information
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RUNX2 correlates with subtype-specific breast cancer in a human tissue microarray, and ectopic expression of Runx2 perturbs differentiation in the mouse mammary gland
Laura McDonald,Nicola Ferrari,Anne Terry,Margaret Bell,Zahra M. Mohammed,Clare Orange,Alma Jenkins,William J. Muller,Barry A. Gusterson,James C. Neil,Joanne Edwards,Joanna S. Morris,Ewan R. Cameron,Karen Blyth
View articletitled, RUNX2 correlates with subtype-specific breast cancer in a human tissue microarray, and ectopic expression of <em>Runx2</em> perturbs differentiation in the mouse mammary gland
Supplementary information
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LETM1 haploinsufficiency causes mitochondrial defects in cells from humans with Wolf-Hirschhorn syndrome: implications for dissecting the underlying pathomechanisms in this condition
Lesley Hart,Anita Rauch,Antony M. Carr,Joris R. Vermeesch,Mark O’Driscoll
View articletitled, <em>LETM1</em> haploinsufficiency causes mitochondrial defects in cells from humans with Wolf-Hirschhorn syndrome: implications for dissecting the underlying pathomechanisms in this condition
Supplementary information
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Complexes of Usher proteins preassemble at the endoplasmic reticulum and are required for trafficking and ER homeostasis
Bernardo Blanco-Sánchez,Aurélie Clément,Javier Fierro, Jr,Philip Washbourne,Monte Westerfield
View articletitled, Complexes of Usher proteins preassemble at the endoplasmic reticulum and are required for trafficking and ER homeostasis
Supplementary information
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An atrial-fibrillation-linked connexin40 mutant is retained in the endoplasmic reticulum and impairs the function of atrial gap-junction channels
Yiguo Sun,Xiaoling Tong,Honghong Chen,Tao Huang,Qing Shao,Weixiong Huang,Dale W. Laird,Donglin Bai
View articletitled, An atrial-fibrillation-linked connexin40 mutant is retained in the endoplasmic reticulum and impairs the function of atrial gap-junction channels
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Axon degeneration and PGC-1α-mediated protection in a zebrafish model of α-synuclein toxicity
Kelley C. O’Donnell,Aaron Lulla,Mark C. Stahl,Nickolas D. Wheat,Jeff M. Bronstein,Alvaro Sagasti
View articletitled, Axon degeneration and PGC-1α-mediated protection in a zebrafish model of α-synuclein toxicity
Supplementary information
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Mouse models of telomere dysfunction phenocopy skeletal changes found in human age-related osteoporosis
Tracy A. Brennan,Kevin P. Egan,Carter M. Lindborg,Qijun Chen,Mariya T. Sweetwyne,Kurt D. Hankenson,Sharon X. Xie,Frederick B. Johnson,Robert J. Pignolo
View articletitled, Mouse models of telomere dysfunction phenocopy skeletal changes found in human age-related osteoporosis
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Accepted manuscripts
Loss of function of VCP/TER94 causes neurodegeneration in the Drosophila central nervous system
Kohei Tsumaki, Christian J. F. Bertens, Minoru Nakayama, Saya Kato, Yuki Jonao, Ayu Kuribayashi, Konosuke Sato, Shota Ishiyama, Momoko Asakawa, Riko Aihara, Yuki Yoshioka, Hidenori Homma, Hikari Tanaka, Kyota Fujita, Hitoshi Okazawa, Masaki Sone
Abca4, mutated in Stargardt Disease, is required for cone outer segment structural integrity
John J. Willoughby, Abbie M. Jensen
Generation and characterization of a novel mouse model of Becker Muscular Dystrophy with a deletion of exons 52 to 55
Lucie O. M. Perillat, Tatianna W. Y. Wong, Eleonora Maino, Abdalla Ahmed, Ori Scott, Elzbieta Hyatt, Paul Delgado-Olguin, Shagana Visuvanathan, Evgueni A. Ivakine, Ronald D. Cohn
More accepted manuscripts

Call for Papers – Infectious Disease: Evolution, Mechanisms and Global Health

Showcase your latest research on our upcoming Special Issue: Infectious Disease: Evolution, Mechanisms and Global Health. This issue will be coordinated by DMM Editors Sumana Sanyal and David Tobin alongside Guest Editors Judi Allen and Russell Vance. The deadline for submitting articles to this Special Issue has been extended to Monday 24 February 2025.

Biologists @ 100 - join us in Liverpool in March 2025

We are excited to invite you to a unique scientific conference, celebrating the 100-year anniversary of The Company of Biologists, and bringing together our different communities. The conference will incorporate a DMM programme on antimicrobial resistance on 26 March 2025. Find out more and register to join us in March 2025 in Liverpool, UK.

The role of the International Society for Stem Cell Research guidelines in disease modelling


The International Society for Stem Cell Research (ISSCR) provides comprehensive guidelines and standards for using human stem cells in biomedical research. In this Editorial, Cody Juguilon and Joseph Wu discuss how and why these should be incorporated in disease modelling research.

Read & Publish Open Access publishing: what authors say

Promotional banner for R&P agreements

We have had great feedback from authors who have benefitted from our Read & Publish agreement with their institution and have been able to publish Open Access with us without paying an APC. Read what they had to say.

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