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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

Hnf1b haploinsufficiency differentially affects developmental target genes in a new renal cysts and diabetes mouse model

Leticia L. Niborski; Mélanie Paces-Fessy; Pierbruno Ricci; Adeline Bourgeois; Pedro Magalhães; Maria Kuzma-Kuzniarska; Celine Lesaulnier; Martin Reczko; Edwige Declercq; Petra Zürbig; Alain Doucet; Muriel Umbhauer; Silvia Cereghini

04 May 2021

Doi: 10.1242/dmm.047498

RESEARCH ARTICLE

An Fgfr3 -activating mutation in immature murine osteoblasts affects the appendicular and craniofacial skeleton

Martin Biosse Duplan; Emilie Dambroise; Valentin Estibals; Joelle Veziers; Jérome Guicheux; Laurence Legeai-Mallet

23 April 2021

Doi: 10.1242/dmm.048272

REVIEW

Mending a broken heart: In vitro , in vivo and in silico models of congenital heart disease

Abdul Jalil Rufaihah; Ching Kit Chen; Choon Hwai Yap; Citra N. Z. Mattar

28 March 2021

Doi: 10.1242/dmm.047522

RESEARCH ARTICLE

Transformed notochordal cells trigger chronic wounds in zebrafish, destabilizing the vertebral column and bone homeostasis

Paco López-Cuevas; Luke Deane; Yushi Yang; Chrissy L. Hammond; Erika Kague

19 March 2021

Doi: 10.1242/dmm.047001

RESEARCH ARTICLE

EZH2 is required for parathyroid and thymic development through differentiation of the third pharyngeal pouch endoderm

Cinzia Caprio; Gabriella Lania; Marchesa Bilio; Rosa Ferrentino; Li Chen; Antonio Baldini

11 March 2021

Doi: 10.1242/dmm.046789

REVIEW

Modelling epilepsy in the mouse: challenges and solutions

Grant F. Marshall; Alfredo Gonzalez-Sulser; Catherine M. Abbott

01 March 2021

Doi: 10.1242/dmm.047449

RESEARCH ARTICLE

The infantile myofibromatosis NOTCH3 L1519P mutation leads to hyperactivated ligand-independent Notch signaling and increased PDGFRB expression

Dan Wu; Sailan Wang; Daniel V. Oliveira; Francesca Del Gaudio; Michael Vanlandewijck; Thibaud Lebouvier; Christer Betsholtz; Jian Zhao; ShaoBo Jin; Urban Lendahl; Helena Karlström

24 February 2021

Doi: 10.1242/dmm.046300

PERSPECTIVE

Modeling the developmental origins of pediatric cancer to improve patient outcomes

James F. Amatruda

22 February 2021

Doi: 10.1242/dmm.048930

RESEARCH ARTICLE

Neural crest-specific loss of Bmp7 leads to midfacial hypoplasia, nasal airway obstruction and disordered breathing, modeling obstructive sleep apnea

Pranidhi Baddam; Vivian Biancardi; Daniela M. Roth; Farah Eaton; Claudine Thereza-Bussolaro; Rupasri Mandal; David S. Wishart; Amy Barr; Joanna MacLean; Carlos Flores-Mir; Silvia Pagliardini; Daniel Graf

11 February 2021

Doi: 10.1242/dmm.047738

RESEARCH ARTICLE

Disruption of a Hedgehog-Foxf1-Rspo2 signaling axis leads to tracheomalacia and a loss of Sox9 + tracheal chondrocytes

Talia Nasr; Andrea M. Holderbaum; Praneet Chaturvedi; Kunal Agarwal; Jessica L. Kinney; Keziah Daniels; Stephen L. Trisno; Vladimir Ustiyan; John M. Shannon; James M. Wells; Debora Sinner; Vladimir V. Kalinichenko; Aaron M. Zorn

04 February 2021

Doi: 10.1242/dmm.046573

RESEARCH ARTICLE

Interpreting the pathogenicity of Joubert syndrome missense variants in Caenorhabditis elegans

Karen I. Lange; Sofia Tsiropoulou; Katarzyna Kucharska; Oliver E. Blacque

26 January 2021

Doi: 10.1242/dmm.046631

RESEARCH ARTICLE

Resolving the heterogeneity of diaphragmatic mesenchyme: a novel mouse model of congenital diaphragmatic hernia

Louise Cleal; Sophie L. McHaffie; Martin Lee; Nick Hastie; Ofelia M. Martínez-Estrada; You-Ying Chau

26 January 2021

Doi: 10.1242/dmm.046797

RESEARCH ARTICLE

Mutant Cx30-A88V mice exhibit hydrocephaly and sex-dependent behavioral abnormalities, implicating a functional role for Cx30 in the brain

Nicole M. Novielli-Kuntz; Eric R. Press; Kevin Barr; Marco A. M. Prado; Dale W. Laird

26 January 2021

Doi: 10.1242/dmm.046235

CORRECTION

Correction: A novel hypomorphic allele of Spag17 causes primary ciliary dyskinesia phenotypes in mice

Zakia Abdelhamed; Marshall Lukacs; Sandra Cindric; Saima Ali; Heymut Omran; Rolf W. Stottmann

11 January 2021

Doi: 10.1242/dmm.048645

RESEARCH ARTICLE

Deletion of Yy1 in mouse lung epithelium unveils molecular mechanisms governing pleuropulmonary blastoma pathogenesis

Kim Landry-Truchon; Nicolas Houde; Mickaël Lhuillier; Louis Charron; Alice Hadchouel; Christophe Delacourt; William D. Foulkes; Louise Galmiche-Rolland; Lucie Jeannotte

29 December 2020

Doi: 10.1242/dmm.045989

REVIEW

Pulmonary neuroendocrine cells: physiology, tissue homeostasis and disease

Masafumi Noguchi; Kana T. Furukawa; Mitsuru Morimoto

21 December 2020

Doi: 10.1242/dmm.046920

RESEARCH ARTICLE

L-type voltage-gated calcium channel agonists mitigate hearing loss and modify ribbon synapse morphology in the zebrafish model of Usher syndrome type 1

Alaa Koleilat; Joseph A. Dugdale; Trace A. Christenson; Jeffrey L. Bellah; Aaron M. Lambert; Mark A. Masino; Stephen C. Ekker; Lisa A. Schimmenti

27 November 2020

Doi: 10.1242/dmm.043885

RESEARCH ARTICLE

Restoration of motor learning in a mouse model of Rett syndrome following long-term treatment with a novel small-molecule activator of TrkB

Ian Adams; Tao Yang; Frank M. Longo; David M. Katz

27 November 2020

Doi: 10.1242/dmm.044685

RESEARCH ARTICLE

Progenitor death drives retinal dysplasia and neuronal degeneration in a mouse model of ATRIP-Seckel syndrome

Gabriel E. Matos-Rodrigues; Pedro B. Tan; Maurício Rocha-Martins; Clara F. Charlier; Anielle L. Gomes; Felipe Cabral-Miranda; Paulius Grigaravicius; Thomas G. Hofmann; Pierre-Olivier Frappart; Rodrigo A. P. Martins

30 October 2020

Doi: 10.1242/dmm.045807

RESEARCH ARTICLE

A novel hypomorphic allele of Spag17 causes primary ciliary dyskinesia phenotypes in mice

Zakia Abdelhamed; Marshall Lukacs; Sandra Cindric; Heymut Omran; Rolf W. Stottmann

30 October 2020

Doi: 10.1242/dmm.045344

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Developmental Disorders

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