Search Results - "Zelinger, Lina"

NRL-Regulated Transcriptome Dynamics of Developing Rod Photoreceptors by Kim, Jung-Woong, Yang, Hyun-Jin, Brooks, Matthew John, Zelinger, Lina, Karakülah, Gökhan, Gotoh, Norimoto, Boleda, Alexis, Gieser, Linn, Giuste, Felipe, Whitaker, Dustin Thad, Walton, Ashley, Villasmil, Rafael, Barb, Jennifer Joanna, Munson, Peter Jonathan, Kaya, Koray Dogan, Chaitankar, Vijender, Cogliati, Tiziana, Swaroop, Anand

“…Gene regulatory networks (GRNs) guiding differentiation of cell types and cell assemblies in the nervous system are poorly understood because of inherent…”
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TRPM1 Mutations are the Most Common Cause of Autosomal Recessive Congenital Stationary Night Blindness (CSNB) in the Palestinian and Israeli Populations by AlTalbishi, Alaa, Zelinger, Lina, Zeitz, Christina, Hendler, Karen, Namburi, Prasanthi, Audo, Isabelle, Sheffer, Ruth, Yahalom, Claudia, Khateb, Samer, Banin, Eyal, Sharon, Dror

“…Precise genetic and phenotypic characterization of congenital stationary night blindness (CSNB) patients is needed for future therapeutic interventions. The…”
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Identification of mutations causing inherited retinal degenerations in the israeli and palestinian populations using homozygosity mapping by Beryozkin, Avigail, Zelinger, Lina, Bandah-Rozenfeld, Dikla, Shevach, Elia, Harel, Anat, Storm, Tim, Sagi, Michal, Eli, Dalia, Merin, Saul, Banin, Eyal, Sharon, Dror

“…The Israeli and Palestinian populations are known to have a relatively high level of consanguineous marriages, leading to a relatively high frequency of…”
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Exome sequencing identifies a founder frameshift mutation in an alternative exon of USH1C as the cause of autosomal recessive retinitis pigmentosa with late-onset hearing loss by Khateb, Samer, Zelinger, Lina, Ben-Yosef, Tamar, Merin, Saul, Crystal-Shalit, Ornit, Gross, Menachem, Banin, Eyal, Sharon, Dror

“…We used a combined approach of homozygosity mapping and whole exome sequencing (WES) to search for the genetic cause of autosomal recessive retinitis…”
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P090: NGS assay for simultaneous screening of DNA and RNA provides a comprehensive solution guiding clinical management of ALL patients by Zelinger, Lina, Ko, Charmeine, Alarcon, Francys, Koo, Samuel, Thomas, Kenneth, Nam, Hyunjun, Diaz, Fernando Lopez, Jung, Segun, Ye, Fei, Kulkarni, Shashikant

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Genetics and Disease Expression in the CNGA3 Form of Achromatopsia by Zelinger, Lina, PhD, Cideciyan, Artur V., PhD, Kohl, Susanne, PhD, Schwartz, Sharon B., MS, CGC, Rosenmann, Ada, MD, PhD, Eli, Dalia, PhD, Sumaroka, Alexander, PhD, Roman, Alejandro J., MS, Luo, Xunda, MD, PhD, Brown, Cassondra, BS, Rosin, Boris, MD, PhD, Blumenfeld, Anat, PhD, Wissinger, Bernd, PhD, Jacobson, Samuel G., MD, PhD, Banin, Eyal, MD, PhD, Sharon, Dror, PhD

“…Purpose Achromatopsia (ACHM) is a congenital, autosomal recessive retinal disease that manifests cone dysfunction, reduced visual acuity and color vision,…”
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Cone Dystrophy with Supernormal Rod Response by Zelinger, Lina, MSc, Wissinger, Bernd, PhD, Eli, Dalia, PhD, Kohl, Susanne, PhD, Sharon, Dror, PhD, Banin, Eyal, MD, PhD

“…Objective To study the clinical variability and KCNV2 mutation spectrum in cone dystrophy with supernormal rod response (CDSRR) in the Israeli population…”
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RNA Biology in Retinal Development and Disease by Zelinger, Lina, Swaroop, Anand

“…For decades, RNA has served in a supporting role between the genetic carrier (DNA) and the functional molecules (proteins). It is finally time for RNA to take…”
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SSBP1 faux pas in mitonuclear tango causes optic neuropathy by Zelinger, Lina, Swaroop, Anand

“…Mitochondrial dysfunction or loss is evident in neurodegenerative diseases. Furthermore, mitochondrial DNA (mtDNA) mutations associated with NADH dehydrogenase…”
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SSBP1 faux pas in mitonuclear tango causes optic neuropathy by Zelinger, Lina, Swaroop, Anand

“…Mitochondrial dysfunction or loss is evident in neurodegenerative diseases. Furthermore, mitochondrial DNA (mtDNA) mutations associated with NADH dehydrogenase…”
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RNA Fusions and Their Association with DNA Alterations in Myeloid Neoplasia Patients Identified By a Single Tube Multimodal Comprehensive Genomic Profiling Test by Krawczyk, Michal, Zelinger, Lina, Wong, Cynthie, Nam, Hyunjun, Thomas, Brad, Montgomery, Nathan D, Lyle, Derek D, Lopez-Diaz, Fernando

“…Background: Recent updates into NCCN professional guidelines have included adding several genomic biomarkers for myeloid disorders. Detecting SNVs, indels,…”
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Loss of paired immunoglobin-like type 2 receptor B gene associated with age-related macular degeneration impairs photoreceptor function in mouse retina by Dey, Partha Narayan, Singh, Nivedita, Zelinger, Lina, Batz, Zachary, Nellissery, Jacob, White Carreiro, Noor D, Qian, Haohua, Li, Tiansen, Fariss, Robert N, Dong, Lijin, Swaroop, Anand

“…Abstract Genome-wide association studies have uncovered mostly non-coding variants at over 60 genetic loci linked to susceptibility for age-related macular…”
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Single Tube Molecular Profiling of ALL Samples Reveals Integrated Molecular Signature and Highlights Gene Regulatory Networks by Zelinger, Lina, Koo, Samuel, Alarcon, Francys, Ko, Charmeine, Thomas, Brad B, Jung, Segun C, Wang, Ying, Ye, Fei, Kulkarni, Shashikant

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Gene Augmentation Therapy Restores Retinal Function and Visual Behavior in a Sheep Model of CNGA3 Achromatopsia by Banin, Eyal, Gootwine, Elisha, Obolensky, Alexey, Ezra-Elia, Raaya, Ejzenberg, Ayala, Zelinger, Lina, Honig, Hen, Rosov, Alexander, Yamin, Esther, Sharon, Dror, Averbukh, Edward, Hauswirth, William W, Ofri, Ron

“…Achromatopsia is a hereditary form of day blindness caused by cone photoreceptor dysfunction. Affected patients suffer from congenital color blindness,…”
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A homozygous nonsense CEP250 mutation combined with a heterozygous nonsense C2orf71 mutation is associated with atypical Usher syndrome by Khateb, Samer, Zelinger, Lina, Mizrahi-Meissonnier, Liliana, Ayuso, Carmen, Koenekoop, Robert K, Laxer, Uri, Gross, Menachem, Banin, Eyal, Sharon, Dror

“…Usher syndrome (USH) is a heterogeneous group of inherited retinitis pigmentosa (RP) and sensorineural hearing loss (SNHL) caused by mutations in at least 12…”
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Regulation of Noncoding Transcriptome in Developing Photoreceptors by Rod Differentiation Factor NRL by Zelinger, Lina, Karakülah, Gökhan, Chaitankar, Vijender, Kim, Jung-Woong, Yang, Hyun-Jin, Brooks, Matthew J, Swaroop, Anand

“…Transcriptome analysis by next generation sequencing allows qualitative and quantitative profiling of expression patterns associated with development and…”
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A Missense Mutation in DHDDS, Encoding Dehydrodolichyl Diphosphate Synthase, Is Associated with Autosomal-Recessive Retinitis Pigmentosa in Ashkenazi Jews by Zelinger, Lina, Banin, Eyal, Obolensky, Alexey, Mizrahi-Meissonnier, Liliana, Beryozkin, Avigail, Bandah-Rozenfeld, Dikla, Frenkel, Shahar, Ben-Yosef, Tamar, Merin, Saul, Schwartz, Sharon B., Cideciyan, Artur V., Jacobson, Samuel G., Sharon, Dror

“…Retinitis pigmentosa (RP) is a heterogeneous group of inherited retinal degenerations caused by mutations in at least 50 genes. Using homozygosity mapping in…”
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Genetics and Disease Expression in the CNGA3 Form of Achromatopsia: Steps on the Path to Gene Therapy by Zelinger, Lina, Cideciyan, Artur V, Kohl, Susanne, Schwartz, Sharon B, Rosenmann, Ada, Eli, Dalia, Sumaroka, Alexander, Roman, Alejandro J, Luo, Xunda, Brown, Cassondra, Rosin, Boris, Blumenfeld, Anat, Wissinger, Bernd, Jacobson, Samuel G, Banin, Eyal, Sharon, Dror

“…Achromatopsia (ACHM) is a congenital, autosomal recessive retinal disease that manifests cone dysfunction, reduced visual acuity and color vision, nystagmus,…”
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Cone dystrophy with supernormal rod response: novel KCNV2 mutations in an underdiagnosed phenotype by Zelinger, Lina, Wissinger, Bernd, Eli, Dalia, Kohl, Susanne, Sharon, Dror, Banin, Eyal

“…To study the clinical variability and KCNV2 mutation spectrum in cone dystrophy with supernormal rod response (CDSRR) in the Israeli population. Case series…”
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Abstract 1401: Landscape of known and novel myeloid neoplasia fusions identified by a multimodal comprehensive genomic profiling test in 789 patients by Krawczyk, Michal, Duong, Chaugiang, Zelinger, Lina, Ye, Fei, Nam, Hyunjun, Thomas, Brad, Funari, Vincent, Kulkarni, Shashikant, Lopez-Diaz, Fernando

“…Abstract Background: WHO recognizes 23 genomic rearrangements or fusions which define subclasses of AML, MDS/MPN and related neoplasms, and their detection is…”
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