Two novel CHN1 variants identified in Duane retraction syndrome pedigrees disrupt development of ocular motor nerves in zebrafish

A novel de novo nonsense mutation in SALL4 causing duane radial ray syndrome: a case report and expanding the phenotypic spectrum

(2023) Mobarakeh Ajam-Hosseini et al.   BMC Medical Genomics

Systematic evaluation of computational tools to predict the effects of mutations on protein stability in the absence of experimental structures

(2022) Qisheng Pan et al.   BRIEFINGS IN BIOINFORMATICS

Clinical characteristics and surgical approach in Duane retraction syndrome: a study of 691 patients

(2022) Babak Masoomian et al.   JAPANESE JOURNAL OF OPHTHALMOLOGY

Clinical and genetic characteristics of Chinese patients with congenital cranial dysinnervation disorders

(2022) Hongyan Jia et al.   Orphanet Journal of Rare Diseases

CHN1 and duane retraction syndrome: Expanding the phenotype to cranial nerves development disease

(2021) Chloé Angelini et al.   European Journal of Medical Genetics

A 7-year old female with arthrogryposis multiplex congenita, Duane retraction syndrome, and Marcus Gunn phenomenon due to a ZC4H2 gene mutation: a clinical presentation of the Wieacker-Wolff syndrome

(2021) Deena Godfrey et al.   OPHTHALMIC GENETICS

Performance of Web tools for predicting changes in protein stability caused by mutations

(2021) Anna Marabotti et al.   BMC BIOINFORMATICS

The Rac-GAP alpha2-Chimaerin Signals via CRMP2 and Stathmins in the Development of the Ocular Motor System

(2021) Luis Carretero-Rodriguez et al.   JOURNAL OF NEUROSCIENCE

Duane retraction syndrome characterized by inner ear agenesis and neurodevelopmental phenotype in an Italian family with a variant in MAFB

(2021) Giulia Pascolini et al.   CLINICAL GENETICS

iStable 2.0: Predicting Protein Thermal Stability Changes by Integrating Various Characteristic Modules

(2020) Chi-Wei Chen et al.   Computational and Structural Biotechnology Journal

Identification of a novel CHN1 p.(Phe213Val) variant in a large Han Chinese family with congenital Duane retraction syndrome

(2020) Tai-Cheng Zhou et al.   Scientific Reports

A mutation in transcription factor MAFB causes Focal Segmental Glomerulosclerosis with Duane Retraction Syndrome

(2018) Yoshinori Sato et al.   KIDNEY INTERNATIONAL

Thalidomide promotes degradation of SALL4, a transcription factor implicated in Duane Radial Ray syndrome

(2018) Katherine A Donovan et al.   eLife

Flexible design of multiple metagenomics classification pipelines with UGENE

(2018) Rebecca Rose et al.   BIOINFORMATICS

Ocular congenital cranial dysinnervation disorders (CCDDs): insights into axon growth and guidance

(2017) Mary C. Whitman et al.   HUMAN MOLECULAR GENETICS

CHN1 gene mutation analysis in patients with Duane retraction syndrome

(2017) Elif Demirkilinc Biler et al.   JOURNAL OF AAPOS

Mutant α2-chimaerin signals via bidirectional ephrin pathways in Duane retraction syndrome

(2017) Alicia A. Nugent et al.   JOURNAL OF CLINICAL INVESTIGATION

Prevalence of amblyopia and strabismus in Eastern China: results from screening of preschool children aged 36–72 months

(2015) Xuejuan Chen et al.   BRITISH JOURNAL OF OPHTHALMOLOGY

 2-Chimaerin Regulates a Key Axon Guidance Transition during Development of the Oculomotor Projection

(2013) C. Clark et al.   JOURNAL OF NEUROSCIENCE

Thromboembolism and Congenital Malformations

(2012) Cameron F. Parsa et al.   JAMA Ophthalmology

Two Novel CHN1 Mutations in 2 Families With Duane Retraction Syndrome

(2011) Wai-Man Chan   ARCHIVES OF OPHTHALMOLOGY

Recent Progress in Understanding Congenital Cranial Dysinnervation Disorders

(2011) Darren T Oystreck et al.   JOURNAL OF NEURO-OPHTHALMOLOGY

Nestin Is Essential for Zebrafish Brain and Eye Development through Control of Progenitor Cell Apoptosis

(2010) Hua-Ling Chen et al.   PLoS One

CHN1 mutations are not a common cause of sporadic Duane's retraction syndrome

(2009) Noriko Miyake et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Olig2+ Precursors Produce Abducens Motor Neurons and Oligodendrocytes in the Zebrafish Hindbrain

(2009) D. A. Zannino et al.   JOURNAL OF NEUROSCIENCE

The clinical spectrum of homozygousHOXA1 mutations

(2008) Thomas M. Bosley et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Human CHN1 Mutations Hyperactivate  2-Chimaerin and Cause Duane's Retraction Syndrome

(2008) N. Miyake et al.   SCIENCE