SHINYA YAMAMOTO to Drosophila melanogaster
This is a "connection" page, showing publications SHINYA YAMAMOTO has written about Drosophila melanogaster.
Connection Strength
6.715
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Functional assays in Drosophila facilitate classification of variants of uncertain significance associated with rare diseases. Genome Res. 2025 07 01; 35(7):1473-1484.
Score: 0.625
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Role of Drosophila in Human Disease Research 2.0. Int J Mol Sci. 2022 Apr 11; 23(8).
Score: 0.500
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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: 0.491
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Drosophila as a Model for Infectious Diseases. Int J Mol Sci. 2021 Mar 08; 22(5).
Score: 0.464
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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: 0.424
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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila. J Vis Exp. 2019 08 20; (150).
Score: 0.416
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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: 0.318
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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: 0.296
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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: 0.282
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Protein phosphatase 1? limits ring canal constriction during Drosophila germline cyst formation. PLoS One. 2013; 8(7):e70502.
Score: 0.273
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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: 0.261
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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: 0.155
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Glucose uptake in pigment glia suppresses Tau-induced inflammation and photoreceptor degeneration. Dis Model Mech. 2025 04 01; 18(4).
Score: 0.154
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A Zika virus protein expression screen in Drosophila to investigate targeted host pathways during development. Dis Model Mech. 2024 02 01; 17(2).
Score: 0.142
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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: 0.137
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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: 0.137
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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: 0.124
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TM2D genes regulate Notch signaling and neuronal function in Drosophila. PLoS Genet. 2021 12; 17(12):e1009962.
Score: 0.122
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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: 0.107
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A gene-specific T2A-GAL4 library for Drosophila. Elife. 2018 03 22; 7.
Score: 0.094
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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: 0.093
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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: 0.081
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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: 0.077
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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: 0.074
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Large-scale identification of chemically induced mutations in Drosophila melanogaster. Genome Res. 2014 Oct; 24(10):1707-18.
Score: 0.074
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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: 0.072
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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: 0.071
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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: 0.065
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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: 0.051
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Resolving SLC6A1 variable expressivity with deep clinical phenotyping and Drosophila models. HGG Adv. 2026 Jan 15; 7(1):100541.
Score: 0.040
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Heterozygous variants in PLCG1 affect hearing, vision, cardiac, and immune function. Elife. 2025 Aug 27; 13.
Score: 0.040
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C-terminal frameshift variants in GPKOW are associated with a multisystemic X-linked disorder. Genet Med. 2025 Jul; 27(7):101429.
Score: 0.038
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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: 0.036
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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: 0.032
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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: 0.030
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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: 0.029
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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: 0.028
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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: 0.027
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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: 0.027
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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: 0.027
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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: 0.026
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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: 0.026
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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: 0.024
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Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially. PLoS Genet. 2017 Jul; 13(7):e1006905.
Score: 0.023
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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: 0.022
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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: 0.021
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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: 0.021
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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: 0.017