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Developmental Disorders

Developmental disorders, which result from disrupted or delayed development, are among the most lethal diseases of childhood, and represent a significant challenge for researchers and clinicians. Studies in model systems, combined with powerful genetic and clinical research, are helping to advance our understanding of these devastating disorders.

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RESEARCH ARTICLE

Sex-specific trisomic Dyrk1a -related skeletal phenotypes during development in a Down syndrome model

Jonathan M. LaCombe; Kourtney Sloan; Jared R. Thomas; Matthew P. Blackwell; Isabella Crawford; Flannery Bishop; Joseph M. Wallace; Randall J. Roper

23 September 2024

https://doi.org/10.1242/dmm.050914

RESEARCH ARTICLE

Deficient GATA6–CXCR7 signaling leads to bicuspid aortic valve

Rebeca Piñeiro-Sabarís; Donal MacGrogan; José Luis de la Pompa

10 September 2024

https://doi.org/10.1242/dmm.050934

RESEARCH ARTICLE

An Irak1-Mecp2 tandem duplication mouse model for the study of MECP2 duplication syndrome

Eleonora Maino; Ori Scott; Samar Z. Rizvi; Wing Suen Chan; Shagana Visuvanathan; Youssif Ben Zablah; Hongbin Li; Ameet S. Sengar; Michael W. Salter; Zhengping Jia; Janet Rossant; Ronald D. Cohn; Bin Gu; Evgueni A. Ivakine

23 July 2024

https://doi.org/10.1242/dmm.050528

RESEARCH ARTICLE

Craniofacial studies in chicken embryos confirm the pathogenicity of human FZD2 variants associated with Robinow syndrome

Shruti S. Tophkhane; Katherine Fu; Esther M. Verheyen; Joy M. Richman

05 July 2024

https://doi.org/10.1242/dmm.050584

PERSPECTIVE

TANGO2 deficiency disorder is predominantly caused by a lipid imbalance

Michael Sacher; Jay DeLoriea; Mahsa Mehranfar; Cody Casey; Aaliya Naaz; Samuel J. Mackenzie; Chiara Gamberi

05 June 2024

https://doi.org/10.1242/dmm.050662

RESEARCH ARTICLE

A small-molecule TrkB ligand improves dendritic spine phenotypes and atypical behaviors in female Rett syndrome mice

Destynie Medeiros; Karen Ayala-Baylon; Hailey Egido-Betancourt; Eric Miller; Christopher Chapleau; Holly Robinson; Mary L. Phillips; Tao Yang; Frank M. Longo; Wei Li; Lucas Pozzo-Miller

24 May 2024

https://doi.org/10.1242/dmm.050612

RESEARCH ARTICLE

Fbrsl1 is required for heart development in Xenopus laevis and de novo variants in FBRSL1 can cause human heart defects

Hanna Berger; Sarah Gerstner; Marc-Frederik Horstmann; Silke Pauli; Annette Borchers

14 May 2024

https://doi.org/10.1242/dmm.050507

RESEARCH ARTICLE

Impaired polyamine metabolism causes behavioral and neuroanatomical defects in a mouse model of Snyder–Robinson syndrome

Oluwaseun Akinyele; Anushe Munir; Marie A. Johnson; Megan S. Perez; Yuan Gao; Jackson R. Foley; Ashley Nwafor; Yijen Wu; Tracy Murray-Stewart; Robert A. Casero, Jr.; Hülya Bayir; Dwi U. Kemaladewi

09 May 2024

https://doi.org/10.1242/dmm.050639

RESEARCH ARTICLE

Neurodevelopmental defects in a mouse model of O- GlcNAc transferase intellectual disability

Florence Authier; Nina Ondruskova; Andrew T. Ferenbach; Alison D. McNeilly; Daan M. F. van Aalten

25 April 2024

https://doi.org/10.1242/dmm.050671

PERSPECTIVE

Telomere length is an epigenetic trait – Implications for the use of telomerase-deficient organisms to model human disease

Catarina M. Henriques; Miguel Godinho Ferreira

05 March 2024

https://doi.org/10.1242/dmm.050581

RESEARCH ARTICLE

A common cellular response to broad splicing perturbations is characterized by metabolic transcript downregulation driven by the Mdm2–p53 axis

Jade E. Varineau; Eliezer Calo

01 March 2024

https://doi.org/10.1242/dmm.050356

RESEARCH ARTICLE

Face-valid phenotypes in a mouse model of the most common mutation in EEF1A2 -related neurodevelopmental disorder

Grant F. Marshall; Melissa Fasol; Faith C. J. Davies; Matthew Le Seelleur; Alejandra Fernandez Alvarez; Cavan Bennett-Ness; Alfredo Gonzalez-Sulser; Catherine M. Abbott

02 February 2024

https://doi.org/10.1242/dmm.050501

RESEARCH ARTICLE

Pax3 lineage-specific deletion of Gpr161 is associated with spinal neural tube and craniofacial malformations during embryonic development

Sung-Eun Kim; Pooja J. Chothani; Rehana Shaik; Westley Pollard; Richard H. Finnell

28 November 2023

https://doi.org/10.1242/dmm.050277

RESOURCE ARTICLE

Pluripotent stem cell-derived neural progenitor cells can be used to model effects of IL-6 on human neurodevelopment

Kseniia Sarieva; Felix Hildebrand; Theresa Kagermeier; Zeynep Yentür; Katharina Becker; Simone Mayer

03 November 2023

https://doi.org/10.1242/dmm.050306

RESEARCH ARTICLE

The roles of JAK2/STAT3 signaling in fusion of the secondary palate

Naoki Yoshida; Toshihiro Inubushi; Takumi Hirose; Gozo Aoyama; Hiroshi Kurosaka; Takashi Yamashiro

17 October 2023

https://doi.org/10.1242/dmm.050085

RESEARCH ARTICLE

DPH1 and DPH2 variants that confer susceptibility to diphthamide deficiency syndrome in human cells and yeast models

Koray Ütkür; Klaus Mayer; Maliha Khan; Thirishika Manivannan; Raffael Schaffrath; Ulrich Brinkmann

22 September 2023

https://doi.org/10.1242/dmm.050207

RESEARCH ARTICLE

Disrupting Hedgehog signaling in melanocytes by SUFU knockout leads to ocular melanocytosis and anterior segment malformation

Weizhuo Wang; Feiyang Li; Jing Wang; Zuimeng Liu; Meiyu Tian; Zhenhang Wang; Huirong Li; Jia Qu; Yu Chen; Ling Hou

29 August 2023

https://doi.org/10.1242/dmm.050210

RESEARCH ARTICLE

An O -GlcNAc transferase pathogenic variant linked to intellectual disability affects pluripotent stem cell self-renewal

Michaela Omelková; Christina Dühring Fenger; Marta Murray; Trine Bjørg Hammer; Veronica M. Pravata; Sergio Galan Bartual; Ignacy Czajewski; Allan Bayat; Andrew T. Ferenbach; Marios P. Stavridis; Daan M. F. van Aalten

19 June 2023

https://doi.org/10.1242/dmm.049132

RESOURCE ARTICLE

Facial analytics based on a coordinate extrapolation system (zFACE) for morphometric phenotyping of developing zebrafish

Lorena Maili; Oscar E. Ruiz; Philip H. Kahan; Frankie Chiu; Stephen T. Larson; S. Shahrukh Hashmi; Jacqueline T. Hecht; George T. Eisenhoffer

02 June 2023

https://doi.org/10.1242/dmm.049868

RESEARCH ARTICLE

Development of the aganglionic colon following surgical rescue in a cell therapy model of Hirschsprung disease in rat

John B. Furness; Enie Lei; Billie Hunne; Cameron D. Adams; Alan J. Burns; Jill Wykosky; Therese E. Fazio Coles; Linda J. Fothergill; Juan C. Molero; Ruslan V. Pustovit; Lincon A. Stamp

27 April 2023

https://doi.org/10.1242/dmm.050055

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Developmental Disorders

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