MERTK mutation update in inherited retinal diseases

Targeted Next-Generation Sequencing Reveals a Novel Frameshift Mutation in the MERTK Gene in a Chinese Family with Retinitis Pigmentosa

(2018) Mu Yang et al.   Genetic Testing and Molecular Biomarkers

A novel MERTK mutation causing retinitis pigmentosa

(2017) Hasenin Al-khersan et al.   GRAEFES ARCHIVE FOR CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY

Cell-based therapeutic strategies for replacement and preservation in retinal degenerative diseases

(2017) Melissa K. Jones et al.   PROGRESS IN RETINAL AND EYE RESEARCH

Whole exome sequencing using Ion Proton system enables reliable genetic diagnosis of inherited retinal dystrophies

(2017) Marina Riera et al.   Scientific Reports

Advanced diagnostic genetic testing in inherited retinal disease: experience from a single tertiary referral centre in the UK National Health Service

(2016) K.N. Khan et al.   CLINICAL GENETICS

Treatment of retinitis pigmentosa due to MERTK mutations by ocular subretinal injection of adeno-associated virus gene vector: results of a phase I trial

(2016) Nicola G. Ghazi et al.   HUMAN GENETICS

Receptor MER Tyrosine Kinase Proto-oncogene (MERTK) Is Not Required for Transfer of Bis-retinoids to the Retinal Pigmented Epithelium

(2016) Grazyna Palczewska et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Molecular findings from 537 individuals with inherited retinal disease

(2016) Jamie M Ellingford et al.   JOURNAL OF MEDICAL GENETICS

Cell-Based Therapy for Degenerative Retinal Disease

(2016) Marco Zarbin   TRENDS IN MOLECULAR MEDICINE

Expanding the clinical, allelic and locus heterogeneity of retinal dystrophies

(2015) Nisha Patel et al.   GENETICS IN MEDICINE

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Advancing Therapeutic Strategies for Inherited Retinal Degeneration: Recommendations From the Monaciano Symposium

(2015) D. A. Thompson et al.   INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE

Next-generation sequencing applied to a large French cone and cone-rod dystrophy cohort: mutation spectrum and new genotype-phenotype correlation

(2015) Elise Boulanger-Scemama et al.   Orphanet Journal of Rare Diseases

Human iPSC derived disease model of MERTK-associated retinitis pigmentosa

(2015) Dunja Lukovic et al.   Scientific Reports

NGS-based Molecular diagnosis of 105 eyeGENE® probands with Retinitis Pigmentosa

(2015) Zhongqi Ge et al.   Scientific Reports

Tyro3 Modulates Mertk-Associated Retinal Degeneration

(2015) Douglas Vollrath et al.   PLoS Genetics

Choroidal Hyperreflective Foci in Stargardt Disease Shown by Spectral-Domain Optical Coherence Tomography Imaging

(2015) Niloofar Piri et al.   JAMA Ophthalmology

Homozygosity Mapping in Leber Congenital Amaurosis and Autosomal Recessive Retinitis Pigmentosa in South Indian Families

(2015) Sundaramurthy Srilekha et al.   PLoS One

Understanding photoreceptor outer segment phagocytosis: Use and utility of RPE cells in culture

(2014) Francesca Mazzoni et al.   EXPERIMENTAL EYE RESEARCH

Identity-by-descent–guided mutation analysis and exome sequencing in consanguineous families reveals unusual clinical and molecular findings in retinal dystrophy

(2014) Frauke Coppieters et al.   GENETICS IN MEDICINE

Genotype–phenotype correlation and mutation spectrum in a large cohort of patients with inherited retinal dystrophy revealed by next-generation sequencing

(2014) Xiu-Feng Huang et al.   GENETICS IN MEDICINE

Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible and more sensitive for variant detection, than exome sequencing

(2014) Mark B. Consugar et al.   GENETICS IN MEDICINE

Mutations of 60 known causative genes in 157 families with retinitis pigmentosa based on exome sequencing

(2014) Yan Xu et al.   HUMAN GENETICS

Cleavage of Mer Tyrosine Kinase (MerTK) from the Cell Surface Contributes to the Regulation of Retinal Phagocytosis

(2014) Ah-Lai Law et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

MutationTaster2: mutation prediction for the deep-sequencing age

(2014) Jana Marie Schwarz et al.   NATURE METHODS

Increased Expression of MERTK is Associated with a Unique Form of Canine Retinopathy

(2014) Saija J. Ahonen et al.   PLoS One

Spectral Domain Optical Coherence Tomographic Findings of Bietti Crystalline Dystrophy

(2014) Ali Osman Saatci et al.   Journal of Ophthalmology

Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements

(2013) Feng Wang et al.   HUMAN GENETICS

Increasing the Yield in Targeted Next-Generation Sequencing by Implicating CNV Analysis, Non-Coding Exons and the Overall Variant Load: The Example of Retinal Dystrophies

(2013) Tobias Eisenberger et al.   PLoS One

Biology of the TAM Receptors

(2013) G. Lemke   Cold Spring Harbor Perspectives in Biology

Retinal pigment epithelial cells use a MerTK-dependent mechanism to limit the phagocytic particle binding activity of αvβ5 integrin

(2012) Emeline F. Nandrot et al.   BIOLOGY OF THE CELL

Massively parallel sequencing for early molecular diagnosis in Leber congenital amaurosis

(2012) Frauke Coppieters et al.   GENETICS IN MEDICINE

A paradigm shift in the delivery of services for diagnosis of inherited retinal disease

(2012) James O'Sullivan et al.   JOURNAL OF MEDICAL GENETICS

A Homozygous Frameshift Mutation in LRAT Causes Retinitis Punctata Albescens

(2012) Karin W. Littink et al.   OPHTHALMOLOGY

Development and application of a next-generation-sequencing (NGS) approach to detect known and novel gene defects underlying retinal diseases

(2012) Isabelle Audo et al.   Orphanet Journal of Rare Diseases

Homozygous Mutation in MERTK Causes Severe Autosomal Recessive Retinitis Pigmentosa

(2011) Mohamed Ksantini et al.   EUROPEAN JOURNAL OF OPHTHALMOLOGY

Shedding of the Mer Tyrosine Kinase Receptor Is Mediated by ADAM17 Protein through a Pathway Involving Reactive Oxygen Species, Protein Kinase Cδ, and p38 Mitogen-activated Protein Kinase (MAPK)

(2011) Edward Thorp et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Fundus Albipunctatus Associated with Compound Heterozygous Mutations in RPE65

(2011) Patrik Schatz et al.   OPHTHALMOLOGY

Detection of Variants in 15 Genes in 87 Unrelated Chinese Patients with Leber Congenital Amaurosis

(2011) Lin Li et al.   PLoS One

Nonsense mutation in MERTK causes autosomal recessive retinitis pigmentosa in a consanguineous Pakistani family

(2010) A. Shahzadi et al.   BRITISH JOURNAL OF OPHTHALMOLOGY

Focus on Molecules: MERTK

(2010) David J. Strick et al.   EXPERIMENTAL EYE RESEARCH

EYS is a major gene for rod-cone dystrophies in France

(2010) Isabelle Audo et al.   HUMAN MUTATION

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Photoreceptor degeneration: genetic and mechanistic dissection of a complex trait

(2010) Alan F. Wright et al.   NATURE REVIEWS GENETICS

Characterisation of severe rod-cone dystrophy in a consanguineous family with a splice site mutation in the MERTK gene

(2009) P Charbel Issa et al.   BRITISH JOURNAL OF OPHTHALMOLOGY

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

(2009) François-Olivier Desmet et al.   NUCLEIC ACIDS RESEARCH