HUGO BELLEN to Female
This is a "connection" page, showing publications HUGO BELLEN has written about Female.
Connection Strength
0.570
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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: 0.036
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Homozygous missense variants in YKT6 result in loss of function and are associated with developmental delay, with or without severe infantile liver disease and risk for hepatocellular carcinoma. Genet Med. 2024 Jul; 26(7):101125.
Score: 0.035
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Neuronal ROS-induced glial lipid droplet formation is altered by loss of Alzheimer's disease-associated genes. Proc Natl Acad Sci U S A. 2021 12 28; 118(52).
Score: 0.030
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Variants in CAPZA2, a member of an F-actin capping complex, cause intellectual disability and developmental delay. Hum Mol Genet. 2020 06 03; 29(9):1537-1546.
Score: 0.027
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De novo mutations in TOMM70, a receptor of the mitochondrial import translocase, cause neurological impairment. Hum Mol Genet. 2020 06 03; 29(9):1568-1579.
Score: 0.027
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Phospholipase PLA2G6, a Parkinsonism-Associated Gene, Affects Vps26 and Vps35, Retromer Function, and Ceramide Levels, Similar to a-Synuclein Gain. Cell Metab. 2018 10 02; 28(4):605-618.e6.
Score: 0.024
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Ari-1 Regulates Myonuclear Organization Together with Parkin and Is Associated with Aortic Aneurysms. Dev Cell. 2018 04 23; 45(2):226-244.e8.
Score: 0.023
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The Glia-Neuron Lactate Shuttle and Elevated ROS Promote Lipid Synthesis in Neurons and Lipid Droplet Accumulation in Glia via APOE/D. Cell Metab. 2017 Nov 07; 26(5):719-737.e6.
Score: 0.022
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Large-scale identification of chemically induced mutations in Drosophila melanogaster. Genome Res. 2014 Oct; 24(10):1707-18.
Score: 0.018
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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: 0.016
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Aberrant lysosomal carbohydrate storage accompanies endocytic defects and neurodegeneration in Drosophila benchwarmer. J Cell Biol. 2005 Jul 04; 170(1):127-39.
Score: 0.010
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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: 0.009
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Bonus, a Drosophila TIF1 homolog, is a chromatin-associated protein that acts as a modifier of position-effect variegation. Genetics. 2005 Feb; 169(2):783-94.
Score: 0.009
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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: 0.009
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Improving access to exome sequencing in a medically underserved population through the Texome Project. Genet Med. 2024 06; 26(6):101102.
Score: 0.009
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OXR1 maintains the retromer to delay brain aging under dietary restriction. Nat Commun. 2024 Jan 11; 15(1):467.
Score: 0.009
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Synaptojanin is recruited by endophilin to promote synaptic vesicle uncoating. Neuron. 2003 Nov 13; 40(4):733-48.
Score: 0.009
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Loss of Activity-Induced Mitochondrial ATP Production Underlies the Synaptic Defects in a Drosophila Model of ALS. J Neurosci. 2022 10 19; 42(42):8019-8037.
Score: 0.008
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Drosophila VAP-33A directs bouton formation at neuromuscular junctions in a dosage-dependent manner. Neuron. 2002 Jul 18; 35(2):291-306.
Score: 0.008
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Endophilin mutations block clathrin-mediated endocytosis but not neurotransmitter release. Cell. 2002 Apr 05; 109(1):101-12.
Score: 0.008
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Loss of Neuron Navigator 2 Impairs Brain and Cerebellar Development. Cerebellum. 2023 Apr; 22(2):206-222.
Score: 0.008
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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: 0.007
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Axon-glia interactions and the domain organization of myelinated axons requires neurexin IV/Caspr/Paranodin. Neuron. 2001 May; 30(2):369-83.
Score: 0.007
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TFEB/Mitf links impaired nuclear import to autophagolysosomal dysfunction in C9-ALS. Elife. 2020 12 10; 9.
Score: 0.007
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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: 0.007
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Low doses of the neonicotinoid insecticide imidacloprid induce ROS triggering neurological and metabolic impairments in Drosophila. Proc Natl Acad Sci U S A. 2020 10 13; 117(41):25840-25850.
Score: 0.007
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Elevated COUP-TFII expression in dopaminergic neurons accelerates the progression of Parkinson's disease through mitochondrial dysfunction. PLoS Genet. 2020 06; 16(6):e1008868.
Score: 0.007
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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: 0.007
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De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation. Am J Hum Genet. 2020 04 02; 106(4):570-583.
Score: 0.007
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Loss of Oxidation Resistance 1, OXR1, Is Associated with an Autosomal-Recessive Neurological Disease with Cerebellar Atrophy and Lysosomal Dysfunction. Am J Hum Genet. 2019 12 05; 105(6):1237-1253.
Score: 0.007
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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: 0.006
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Bi-allelic Variants in IQSEC1 Cause Intellectual Disability, Developmental Delay, and Short Stature. Am J Hum Genet. 2019 11 07; 105(5):907-920.
Score: 0.006
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cindr, the Drosophila Homolog of the CD2AP Alzheimer's Disease Risk Gene, Is Required for Synaptic Transmission and Proteostasis. Cell Rep. 2019 08 13; 28(7):1799-1813.e5.
Score: 0.006
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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: 0.006
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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: 0.006
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Bi-allelic Loss-of-Function Variants in DNMBP Cause Infantile Cataracts. Am J Hum Genet. 2018 10 04; 103(4):568-578.
Score: 0.006
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Visual impairment and progressive phthisis bulbi caused by recessive pathogenic variant in MARK3. Hum Mol Genet. 2018 08 01; 27(15):2703-2711.
Score: 0.006
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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: 0.006
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Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder. Am J Hum Genet. 2018 03 01; 102(3):494-504.
Score: 0.006
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Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially. PLoS Genet. 2017 Jul; 13(7):e1006905.
Score: 0.006
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Lysosomal Degradation Is Required for Sustained Phagocytosis of Bacteria by Macrophages. Cell Host Microbe. 2017 Jun 14; 21(6):719-730.e6.
Score: 0.005
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A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3. Am J Hum Genet. 2017 Jan 05; 100(1):128-137.
Score: 0.005
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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: 0.005
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Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes. Am J Hum Genet. 2016 Oct 06; 99(4):831-845.
Score: 0.005
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Uncoupling neuronal death and dysfunction in Drosophila models of neurodegenerative disease. Acta Neuropathol Commun. 2016 06 23; 4(1):62.
Score: 0.005
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NMNAT2:HSP90 Complex Mediates Proteostasis in Proteinopathies. PLoS Biol. 2016 06; 14(6):e1002472.
Score: 0.005
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Missense variants in the middle domain of DNM1L in cases of infantile encephalopathy alter peroxisomes and mitochondria when assayed in Drosophila. Hum Mol Genet. 2016 05 01; 25(9):1846-56.
Score: 0.005
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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: 0.005
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Genetic and phenotypic analysis of thirteen essential genes in cytological interval 22F1-2; 23B1-2 reveals novel genes required for neural development in Drosophila. Genetics. 1994 Sep; 138(1):111-23.
Score: 0.005
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miR-9a minimizes the phenotypic impact of genomic diversity by buffering a transcription factor. Cell. 2013 Dec 19; 155(7):1556-67.
Score: 0.004
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The amyotrophic lateral sclerosis 8 protein, VAP, is required for ER protein quality control. Hum Mol Genet. 2014 Apr 15; 23(8):1975-89.
Score: 0.004
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Protein phosphatase 1? limits ring canal constriction during Drosophila germline cyst formation. PLoS One. 2013; 8(7):e70502.
Score: 0.004
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Spectraplakins promote microtubule-mediated axonal growth by functioning as structural microtubule-associated proteins and EB1-dependent +TIPs (tip interacting proteins). J Neurosci. 2012 Jul 04; 32(27):9143-58.
Score: 0.004
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Mutations in the mitochondrial methionyl-tRNA synthetase cause a neurodegenerative phenotype in flies and a recessive ataxia (ARSAL) in humans. PLoS Biol. 2012; 10(3):e1001288.
Score: 0.004
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Isolation of temperature-sensitive diphtheria toxins in yeast and their effects on Drosophila cells. Development. 1992 Mar; 114(3):787-96.
Score: 0.004
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Stringent analysis of gene function and protein-protein interactions using fluorescently tagged genes. Genetics. 2012 Mar; 190(3):931-40.
Score: 0.004
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Drosophila Ten-m and filamin affect motor neuron growth cone guidance. PLoS One. 2011; 6(8):e22956.
Score: 0.004
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Downregulation of VAPB expression in motor neurons derived from induced pluripotent stem cells of ALS8 patients. Hum Mol Genet. 2011 Sep 15; 20(18):3642-52.
Score: 0.004
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Two Drosophila learning mutants, dunce and rutabaga, provide evidence of a maternal role for cAMP on embryogenesis. Dev Biol. 1987 Jun; 121(2):432-44.
Score: 0.003
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Sexual hyperactivity and reduced longevity of dunce females of Drosophila melanogaster. Genetics. 1987 Jan; 115(1):153-60.
Score: 0.003
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Growth factor independence-1 is expressed in primary human neuroendocrine lung carcinomas and mediates the differentiation of murine pulmonary neuroendocrine cells. Cancer Res. 2004 Oct 01; 64(19):6874-82.
Score: 0.002
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Mapping and identification of essential gene functions on the X chromosome of Drosophila. EMBO Rep. 2002 Jan; 3(1):34-8.
Score: 0.002
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Functional conservation of atonal and Math1 in the CNS and PNS. Development. 2000 Mar; 127(5):1039-48.
Score: 0.002
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Absence of synaptotagmin disrupts excitation-secretion coupling during synaptic transmission. Proc Natl Acad Sci U S A. 1994 Oct 25; 91(22):10727-31.
Score: 0.001
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P-element-mediated enhancer detection applied to the study of oogenesis in Drosophila. Development. 1989 Oct; 107(2):189-200.
Score: 0.001