Novel pathogenic CERKL variant in Iranian familial with inherited retinal dystrophies: genotype–phenotype correlation

[1]  Junjiang Fu,et al.  Novel, heterozygous, pathogenic variant (c.4272delA: p.I1426Ffs*2) for the NF1 gene in a large Chinese family with neurofibromatosis type 1 , 2022, Molecular Biology Reports.

[2]  G. Marfany,et al.  CERKL, a Retinal Dystrophy Gene, Regulates Mitochondrial Transport and Dynamics in Hippocampal Neurons , 2022, International journal of molecular sciences.

[3]  Junjiang Fu,et al.  PIK3CA hotspot mutations p. H1047R and p. H1047L sensitize breast cancer cells to thymoquinone treatment by regulating the PI3K/Akt1 pathway , 2021, Molecular Biology Reports.

[4]  Jingliang Cheng,et al.  Novel compound heterozygous missense variants (c.G955A and c.A1822C) of CACNA2D4 likely causing autosomal recessive retinitis pigmentosa in a Chinese patient , 2021, 3 Biotech.

[5]  H. Houlden,et al.  Targeted next-generation sequencing panels in the diagnosis of Charcot-Marie-Tooth disease , 2019, Neurology.

[6]  G. Marfany,et al.  Generation of an iPSC line from a retinitis pigmentosa patient carrying a homozygous mutation in CERKL and a healthy sibling. , 2019, Stem cell research.

[7]  Junjiang Fu,et al.  Characterization and molecular cloning of novel isoforms of human spermatogenesis associated gene SPATA3 , 2019, Molecular Biology Reports.

[8]  Jingliang Cheng,et al.  A novel splicing mutation in the PRPH2 gene causes autosomal dominant retinitis pigmentosa in a Chinese pedigree , 2019, Journal of cellular and molecular medicine.

[9]  Jingliang Cheng,et al.  Novel splicing variant c. 208+2T>C in BBS5 segregates with Bardet–Biedl syndrome in an Iranian family by targeted exome sequencing , 2019, Bioscience reports.

[10]  Z. Tümer,et al.  Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy , 2019, Scientific Reports.

[11]  S. Amr,et al.  Novel CERKL variant in consanguineous Jordanian pedigrees with inherited retinal dystrophies. , 2019, Canadian journal of ophthalmology. Journal canadien d'ophtalmologie.

[12]  Yumei Li,et al.  Diagnostic value of a combination of next-generation sequencing, chorioretinal imaging and metabolic analysis: lessons from a consanguineous Chinese family with gyrate atrophy of the choroid and retina stemming from a novel OAT variant , 2018, British Journal of Ophthalmology.

[13]  Christine M Eng,et al.  Next-Generation Sequencing to Diagnose Suspected Genetic Disorders. , 2018, The New England journal of medicine.

[14]  K. Aittomäki,et al.  A founder mutation in CERKL is a major cause of retinal dystrophy in Finland , 2018, Acta ophthalmologica.

[15]  Mohammad Hossein Khosravi,et al.  Identification of a novel RPGRIP1 mutation in an Iranian family with leber congenital amaurosis by exome sequencing , 2017, Journal of cellular and molecular medicine.

[16]  Jingliang Cheng,et al.  Molecular genetics ‎characterization and homology modeling of the CHM gene mutation: A study on its association with choroideremia. , 2018, Mutation research.

[17]  Rui Chen,et al.  The phenotypic variability of HK1-associated retinal dystrophy , 2017, Scientific Reports.

[18]  R. Lewis,et al.  The phenotypic variability of HK1-associated retinal dystrophy , 2017, Scientific Reports.

[19]  X. Shu,et al.  CERKL gene knockout disturbs photoreceptor outer segment phagocytosis and causes rod-cone dystrophy in zebrafish , 2017, Human molecular genetics.

[20]  B. Hafler.  CLINICAL PROGRESS IN INHERITED RETINAL DEGENERATIONS: GENE THERAPY CLINICAL TRIALS AND ADVANCES IN GENETIC SEQUENCING , 2017, Retina.

[21]  Peter M. G. Munro,et al.  Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa , 2016, American journal of human genetics.

[22]  B. Lam,et al.  Next-generation sequencing-based molecular diagnosis of 35 Hispanic retinitis pigmentosa probands , 2016, Scientific Reports.

[23]  Fei Liu,et al.  CERKL interacts with mitochondrial TRX2 and protects retinal cells from oxidative stress-induced apoptosis. , 2014, Biochimica et biophysica acta.

[24]  Jacqueline Pei,et al.  Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements , 2014, Human Genetics.

[25]  Makoto Nakamura,et al.  Whole genome sequencing in patients with retinitis pigmentosa reveals pathogenic DNA structural changes and NEK2 as a new disease gene , 2013, Proceedings of the National Academy of Sciences.

[26]  J. Garcia-Fernández,et al.  CERKL Knockdown Causes Retinal Degeneration in Zebrafish , 2013, PloS one.

[27]  H. Hakonarson,et al.  ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data , 2010, Nucleic acids research.

[28]  M. Mohamed,et al.  A missense mutation in the nuclear localization signal sequence of CERKL (p.R106S) causes autosomal recessive retinal degeneration , 2008, Molecular vision.

[29]  R. Wilke,et al.  CERKL mutations and associated phenotypes in seven Spanish families with autosomal recessive retinitis pigmentosa. , 2008, Investigative ophthalmology & visual science.

[30]  A. Billich,et al.  Characterization of a ceramide kinase-like protein. , 2005, Biochimica et biophysica acta.

[31]  G. Marfany,et al.  Mutation of CERKL, a novel human ceramide kinase gene, causes autosomal recessive retinitis pigmentosa (RP26). , 2004, American journal of human genetics.

[32]  M. Bayés,et al.  A new autosomal recessive retinitis pigmentosa locus maps on chromosome 2q31-q33. , 1998, Journal of medical genetics.

[33]  M. Baiget,et al.  A new autosomal recessive retinitis pigmentosa locus maps on chromosome 2 q 31-q 33 Monica Bayes , 2022 .