SHINYA YAMAMOTO to Animals
This is a "connection" page, showing publications SHINYA YAMAMOTO has written about Animals.
Connection Strength
1.383
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Functional analysis of pathogenic variants in LAMB1-related leukoencephalopathy reveals genotype-phenotype correlations and suggests its role in glial cells. Hum Mol Genet. 2025 May 17; 34(11):990-999.
Score: 0.055
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A Zika virus protein expression screen in Drosophila to investigate targeted host pathways during development. Dis Model Mech. 2024 Feb 01; 17(2).
Score: 0.050
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Integrating non-mammalian model organisms in the diagnosis of rare genetic diseases in humans. Nat Rev Genet. 2024 Jan; 25(1):46-60.
Score: 0.048
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Role of Drosophila in Human Disease Research 2.0. Int J Mol Sci. 2022 Apr 11; 23(8).
Score: 0.044
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Functional Studies of Genetic Variants Associated with Human Diseases in Notch Signaling-Related Genes Using Drosophila. Methods Mol Biol. 2022; 2472:235-276.
Score: 0.043
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TM2D genes regulate Notch signaling and neuronal function in Drosophila. PLoS Genet. 2021 12; 17(12):e1009962.
Score: 0.043
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Drosophila as a Model for Infectious Diseases. Int J Mol Sci. 2021 Mar 08; 22(5).
Score: 0.041
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Post-Developmental Roles of Notch Signaling in the Nervous System. Biomolecules. 2020 07 01; 10(7).
Score: 0.039
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Making sense out of missense mutations: Mechanistic dissection of Notch receptors through structure-function studies in Drosophila. Dev Growth Differ. 2020 Jan; 62(1):15-34.
Score: 0.038
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The fruit fly at the interface of diagnosis and pathogenic mechanisms of rare and common human diseases. Hum Mol Genet. 2019 11 21; 28(R2):R207-R214.
Score: 0.037
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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila. J Vis Exp. 2019 08 20; (150).
Score: 0.037
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Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information. J Vis Exp. 2019 08 15; (150).
Score: 0.037
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Focal brain lesions induced with ultraviolet irradiation. Sci Rep. 2018 05 22; 8(1):7968.
Score: 0.034
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Integration of Drosophila and Human Genetics to Understand Notch Signaling Related Diseases. Adv Exp Med Biol. 2018; 1066:141-185.
Score: 0.033
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Morgan's legacy: fruit flies and the functional annotation of conserved genes. Cell. 2015 Sep 24; 163(1):12-4.
Score: 0.028
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A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases. Cell. 2014 Sep 25; 159(1):200-214.
Score: 0.026
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Measuring the actual timing of liquid-reward delivery using a thermistor. J Neurosci Methods. 2014 May 30; 229:108-13.
Score: 0.025
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Dopamine dynamics and signaling in Drosophila: an overview of genes, drugs and behavioral paradigms. Exp Anim. 2014; 63(2):107-19.
Score: 0.025
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Basal ganglia circuits for reward value-guided behavior. Annu Rev Neurosci. 2014; 37:289-306.
Score: 0.025
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Introduction to Notch signaling. Methods Mol Biol. 2014; 1187:1-14.
Score: 0.025
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Preface. Notch signaling. Methods Mol Biol. 2014; 1187:v.
Score: 0.025
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Protein phosphatase 1? limits ring canal constriction during Drosophila germline cyst formation. PLoS One. 2013; 8(7):e70502.
Score: 0.024
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Reward value-contingent changes of visual responses in the primate caudate tail associated with a visuomotor skill. J Neurosci. 2013 Jul 03; 33(27):11227-38.
Score: 0.024
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A mutation in EGF repeat-8 of Notch discriminates between Serrate/Jagged and Delta family ligands. Science. 2012 Nov 30; 338(6111):1229-32.
Score: 0.023
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What and where information in the caudate tail guides saccades to visual objects. J Neurosci. 2012 Aug 08; 32(32):11005-16.
Score: 0.023
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Endocytosis and intracellular trafficking of Notch and its ligands. Curr Top Dev Biol. 2010; 92:165-200.
Score: 0.019
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Glucose uptake in pigment glia suppresses Tau-induced inflammation and photoreceptor degeneration. Dis Model Mech. 2025 Apr 01; 18(4).
Score: 0.014
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De novo variants in CDKL1 and CDKL2 are associated with neurodevelopmental symptoms. Am J Hum Genet. 2025 Apr 03; 112(4):846-862.
Score: 0.014
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Loss-of-function in RBBP5 results in a syndromic neurodevelopmental disorder associated with microcephaly. Genet Med. 2024 Nov; 26(11):101218.
Score: 0.013
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Dominant missense variants in SREBF2 are associated with complex dermatological, neurological, and skeletal abnormalities. Genet Med. 2024 Sep; 26(9):101174.
Score: 0.013
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Effects of focal cortical cooling on somatosensory evoked potentials in rats. Brain Res. 2024 Oct 01; 1840:148995.
Score: 0.013
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De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic features. Am J Hum Genet. 2024 04 04; 111(4):742-760.
Score: 0.013
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Comparative exploration of mammalian deafness gene homologues in the Drosophila auditory organ shows genetic correlation between insect and vertebrate hearing. PLoS One. 2024; 19(2):e0297846.
Score: 0.013
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Loss of the endoplasmic reticulum protein Tmem208 affects cell polarity, development, and viability. Proc Natl Acad Sci U S A. 2024 Feb 27; 121(9):e2322582121.
Score: 0.013
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A de novo missense variant in EZH1 associated with developmental delay exhibits functional deficits in Drosophila melanogaster. Genetics. 2023 08 09; 224(4).
Score: 0.012
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A comprehensive Drosophila resource to identify key functional interactions between SARS-CoV-2 factors and host proteins. Cell Rep. 2023 08 29; 42(8):112842.
Score: 0.012
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Bi-allelic variants in INTS11 are associated with a complex neurological disorder. Am J Hum Genet. 2023 05 04; 110(5):774-789.
Score: 0.012
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De novo variants in MRTFB have gain-of-function activity in Drosophila and are associated with a novel neurodevelopmental phenotype with dysmorphic features. Genet Med. 2023 06; 25(6):100833.
Score: 0.012
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Notch Missense Mutations in Drosophila Reveal Functions of Specific EGF-like Repeats in Notch Folding, Trafficking, and Signaling. Biomolecules. 2022 11 25; 12(12).
Score: 0.012
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A clustering of heterozygous missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder. HGG Adv. 2023 01 12; 4(1):100157.
Score: 0.011
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Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases. Cell Rep. 2022 03 15; 38(11):110517.
Score: 0.011
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Fly Cell Atlas: A single-nucleus transcriptomic atlas of the adult fruit fly. Science. 2022 03 04; 375(6584):eabk2432.
Score: 0.011
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Loss of IRF2BPL impairs neuronal maintenance through excess Wnt signaling. Sci Adv. 2022 01 21; 8(3):eabl5613.
Score: 0.011
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TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila. Am J Hum Genet. 2021 09 02; 108(9):1669-1691.
Score: 0.011
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Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11. Genet Med. 2021 10; 23(10):1889-1900.
Score: 0.010
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Model organisms contribute to diagnosis and discovery in the undiagnosed diseases network: current state and a future vision. Orphanet J Rare Dis. 2021 05 07; 16(1):206.
Score: 0.010
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BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms. Am J Hum Genet. 2020 12 03; 107(6):1096-1112.
Score: 0.010
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De Novo Variants in CDK19 Are Associated with a Syndrome Involving Intellectual Disability and Epileptic Encephalopathy. Am J Hum Genet. 2020 05 07; 106(5):717-725.
Score: 0.010
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Loss- or Gain-of-Function Mutations in ACOX1 Cause Axonal Loss via Different Mechanisms. Neuron. 2020 05 20; 106(4):589-606.e6.
Score: 0.010
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A Genetic Screen for Genes That Impact Peroxisomes in Drosophila Identifies Candidate Genes for Human Disease. G3 (Bethesda). 2020 01 07; 10(1):69-77.
Score: 0.009
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Maternal almondex, a neurogenic gene, is required for proper subcellular Notch distribution in early Drosophila embryogenesis. Dev Growth Differ. 2020 Jan; 62(1):80-93.
Score: 0.009
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An efficient CRISPR-based strategy to insert small and large fragments of DNA using short homology arms. Elife. 2019 11 01; 8.
Score: 0.009
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Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders. Nat Commun. 2019 10 15; 10(1):4679.
Score: 0.009
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De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia. Am J Hum Genet. 2019 08 01; 105(2):413-424.
Score: 0.009
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Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease. N Engl J Med. 2018 11 29; 379(22):2131-2139.
Score: 0.009
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Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder. Hum Mol Genet. 2018 07 15; 27(14):2454-2465.
Score: 0.009
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A gene-specific T2A-GAL4 library for Drosophila. Elife. 2018 03 22; 7.
Score: 0.008
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Pleiotropic neuropathological and biochemical alterations associated with Myo5a mutation in a rat Model. Brain Res. 2018 01 15; 1679:155-170.
Score: 0.008
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Model Organisms Facilitate Rare Disease Diagnosis and Therapeutic Research. Genetics. 2017 09; 207(1):9-27.
Score: 0.008
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Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially. PLoS Genet. 2017 Jul; 13(7):e1006905.
Score: 0.008
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Neutral Competition for Drosophila Follicle and Cyst Stem Cell Niches Requires Vesicle Trafficking Genes. Genetics. 2017 07; 206(3):1417-1428.
Score: 0.008
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Loss of Nardilysin, a Mitochondrial Co-chaperone for a-Ketoglutarate Dehydrogenase, Promotes mTORC1 Activation and Neurodegeneration. Neuron. 2017 Jan 04; 93(1):115-131.
Score: 0.008
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Rare Functional Variant in TM2D3 is Associated with Late-Onset Alzheimer's Disease. PLoS Genet. 2016 Oct; 12(10):e1006327.
Score: 0.008
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Loss of Frataxin induces iron toxicity, sphingolipid synthesis, and Pdk1/Mef2 activation, leading to neurodegeneration. Elife. 2016 06 25; 5.
Score: 0.007
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Ubr3, a Novel Modulator of Hh Signaling Affects the Degradation of Costal-2 and Kif7 through Poly-ubiquitination. PLoS Genet. 2016 05; 12(5):e1006054.
Score: 0.007
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WAC Regulates mTOR Activity by Acting as an Adaptor for the TTT and Pontin/Reptin Complexes. Dev Cell. 2016 Jan 25; 36(2):139-51.
Score: 0.007
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Impaired Mitochondrial Energy Production Causes Light-Induced Photoreceptor Degeneration Independent of Oxidative Stress. PLoS Biol. 2015 Jul; 13(7):e1002197.
Score: 0.007
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A voltage-gated calcium channel regulates lysosomal fusion with endosomes and autophagosomes and is required for neuronal homeostasis. PLoS Biol. 2015 Mar; 13(3):e1002103.
Score: 0.007
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Fruit flies in biomedical research. Genetics. 2015 Mar; 199(3):639-53.
Score: 0.007
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Glial lipid droplets and ROS induced by mitochondrial defects promote neurodegeneration. Cell. 2015 Jan 15; 160(1-2):177-90.
Score: 0.007
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Mitochondrial fusion but not fission regulates larval growth and synaptic development through steroid hormone production. Elife. 2014 Oct 14; 3.
Score: 0.007
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Large-scale identification of chemically induced mutations in Drosophila melanogaster. Genome Res. 2014 Oct; 24(10):1707-18.
Score: 0.007
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The retromer complex is required for rhodopsin recycling and its loss leads to photoreceptor degeneration. PLoS Biol. 2014 Apr; 12(4):e1001847.
Score: 0.006
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Shared mechanisms between Drosophila peripheral nervous system development and human neurodegenerative diseases. Curr Opin Neurobiol. 2014 Aug; 27:158-64.
Score: 0.006
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Drosophila Tempura, a novel protein prenyltransferase a subunit, regulates notch signaling via Rab1 and Rab11. PLoS Biol. 2014 Jan; 12(1):e1001777.
Score: 0.006
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Why skill matters. Trends Cogn Sci. 2013 Sep; 17(9):434-41.
Score: 0.006
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Drosophila EHBP1 regulates Scabrous secretion during Notch-mediated lateral inhibition. J Cell Sci. 2013 Aug 15; 126(Pt 16):3686-96.
Score: 0.006
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The C8ORF38 homologue Sicily is a cytosolic chaperone for a mitochondrial complex I subunit. J Cell Biol. 2013 Mar 18; 200(6):807-20.
Score: 0.006
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Crag is a GEF for Rab11 required for rhodopsin trafficking and maintenance of adult photoreceptor cells. PLoS Biol. 2012; 10(12):e1001438.
Score: 0.006
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Robust representation of stable object values in the oculomotor Basal Ganglia. J Neurosci. 2012 Nov 21; 32(47):16917-32.
Score: 0.006
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dEHBP1 controls exocytosis and recycling of Delta during asymmetric divisions. J Cell Biol. 2012 Jan 09; 196(1):65-83.
Score: 0.005
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Sequoia regulates cell fate decisions in the external sensory organs of adult Drosophila. EMBO Rep. 2009 Jun; 10(6):636-41.
Score: 0.005
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Growth factor treatment and genetic manipulation stimulate neurogenesis and oligodendrogenesis by endogenous neural progenitors in the injured adult spinal cord. J Neurosci. 2006 Nov 15; 26(46):11948-60.
Score: 0.004