ArticleNature communications2024
Variants in LRRC7 lead to intellectual disability, autism, aggression and abnormal eating behaviors.
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Article in Nature communications, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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7citing papers in PubMed
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Who cites it
7 citing papers in PubMed.
- In situ proteomics unveils specialized domains for extrasynaptic signaling on neuronal cilia.Science advances · 2026Article
- The genetics of obesity: aetiology, prevention and therapy.Nature metabolism · 2026Review
- A novel miniTurbo knock-in mouse reveals a protein interaction network of USP46 in the brain.Experimental animals · 2026Article
- Zebrafish in neurodevelopmental disorders studies: Genetic models and pathological involvement of microglia.Developmental medicine and child neurology · 2025Review
- Joint, multifaceted genomic analysis enables diagnosis of diverse, ultra-rare monogenic presentations.Nature communications · 2025Article
- Proximity labeling uncovers the synaptic proteome under physiological and pathological conditions.Frontiers in cellular neuroscience · 2025Review
- Chromosome 1p31.1 Deletion: A Case With Developmental Delay, Hypotonia, Cryptorchidism, Abnormal Oral Frenulum, and Feet Deformity.Case reports in genetics · 2025Article
Corrections and comments
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Authors and funding
58 authors.
Jana WillimInstitute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Daniel WoikeInstitute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Daniel GreeneIcahn School of Medicine at Mount Sinai, New York, NY, USA.
Sarada DasInstitute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.ORCID 0000-0002-6595-533X
Kevin PfeiferInstitute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Weimin YuanDepartment of Pediatrics, Washington University in St Louis School of Medicine, St Louis, MO, USA.
Anika LindseyDepartment of Pediatrics, Washington University in St Louis School of Medicine, St Louis, MO, USA.ORCID 0000-0002-4236-9223
Omar ItaniDepartment of Pediatrics, Washington University in St Louis School of Medicine, St Louis, MO, USA.
Amber L BöhmeInstitute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Debora TibbeInstitute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Hans-Hinrich HönckInstitute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Fatemeh Hassani NiaInstitute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Undiagnosed Diseases Network
Michael ZechInstitute of Human Genetics, School of Medicine, Technical University of Munich, Munich, Germany.
Theresa BrunetInstitute of Human Genetics, School of Medicine, Technical University of Munich, Munich, Germany.ORCID 0000-0002-5183-780X
Laurence FaivreCentre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, FHU TRANSLAD, CHU Dijon-Bourgogne, Dijon, France.
Arthur SorlinINSERM-Université de Bourgogne-UMR1231 GAD, Dijon, France.
Antonio VitobelloINSERM-Université de Bourgogne-UMR1231 GAD, Dijon, France.ORCID 0000-0003-3717-8374
Thomas SmolUniv. Lille, CHU Lille, ULR7364 - RADEME, Lille, France.
Cindy ColsonUniv. Lille, CHU Lille, ULR7364 - RADEME, Lille, France.
Kristin BarananoDepartment of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Krista SchatzDepartment of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Allan BayatDepartment of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, Dianalund, Denmark.ORCID 0000-0003-4986-8006
Kelly SchochDivision of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, NC, USA.
Rebecca SpillmannDivision of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, NC, USA.
Erica E DavisCenter for Human Disease Modeling, Duke University Medical Center, Durham, NC, USA.ORCID 0000-0002-2412-8397
Erin ConboyIndiana University School of Medicine, Indianapolis, IN, USA.
Francesco VetriniIndiana University School of Medicine, Indianapolis, IN, USA.
Konrad PlatzerInstitute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.ORCID 0000-0001-6127-6308
Sonja NeuserInstitute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.ORCID 0000-0002-2875-8791
Janina Gburek-AugustatDivision of Neuropaediatrics, Hospital for Children and Adolescents, University of Leipzig Medical Center, Leipzig, Germany.ORCID 0000-0003-1827-1434
Alexandra Noel GraceMolecular and Human Genetics Department, Baylor College of Medicine, Houston, TX, USA.
Bailey MitchellBaylor College of Medicine in San Antonio, San Antonio, TX, USA.
Alexander StegmannDepartment of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.ORCID 0000-0002-9736-7137
Margje SinnemaDepartment of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.
Naomi MeeksChildren's Hospital Colorado, Division of Clinical Genetics & Metabolism, Aurora, CO, USA.
Carol SaundersDepartment of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, MO, USA.ORCID 0000-0002-7407-7735
Maxime Cadieux-DionDepartment of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, MO, USA.
Juliane HoyerInstitute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.
Julien Van-GilsGenetics Lab, Centre Hospitalier Universitaire (CHU) de Bordeaux, Bordeaux, France.ORCID 0000-0003-1497-9363
Jean-Madeleine de Sainte-AgatheGenetics Lab, Centre Hospitalier Universitaire (CHU) de Bordeaux, Bordeaux, France.
Michelle L ThompsonHudsonAlpha Institute for Biotechnology, Huntsville, AL, USA.
E Martina BebinUniversity of Alabama at Birmingham, Birmingham, AL, USA.
Monika Weisz-HubshmanMolecular and Human Genetics Department, Baylor College of Medicine, Houston, TX, USA.
Anne-Claude TabetDepartment of Genetics, APHP-Robert Debré University Hospital, Paris, France.
Alain VerloesDepartment of Genetics, APHP-Robert Debré University Hospital, Paris, France.ORCID 0000-0003-4819-0264
Jonathan LevyDepartment of Genetics, APHP-Robert Debré University Hospital, Paris, France.ORCID 0000-0002-8822-816X
Xenia LatypovaDepartment of Genetics, APHP-Robert Debré University Hospital, Paris, France.
Sönke HarderMass spectrometry and Proteome Analytics, Institute for Clinical Chemistry and Laboratory Medicine, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.ORCID 0000-0002-6352-4771
Gary A SilvermanDepartment of Pediatrics, Washington University in St Louis School of Medicine, St Louis, MO, USA.ORCID 0000-0002-2686-2843
Stephen C PakDepartment of Pediatrics, Washington University in St Louis School of Medicine, St Louis, MO, USA.ORCID 0000-0002-8089-3237
Tim SchedlDepartment of Genetics, Washington University in St Louis School of Medicine, St Louis, MO, USA.
Kathleen FresonDepartment of Cardiovascular Sciences, Center for Molecular and Vascular Biology, KU Leuven, Leuven, Belgium.
Andrew MumfordSchool of Cellular and Molecular Medicine, University of Bristol, Bristol, UK.
Ernest TurroIcahn School of Medicine at Mount Sinai, New York, NY, USA.ORCID 0000-0002-1820-6563
Christian SchleinInstitute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.ORCID 0000-0002-2791-1790
Vandana ShashiDivision of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, NC, USA.
Hans-Jürgen KreienkampInstitute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany. Kreienkamp@uke.de.ORCID 0000-0002-8871-9970
Funding
An integrated and diverse genomic medicine program for undiagnosed diseasesU01HG007672 · NHGRI · DUKE UNIVERSITY · PI SHASHI, VANDANA · 2014 to 2022
$13.4MAn integrated and diverse genomic medicine program for undiagnosed diseasesU01NS134350 · NINDS · DUKE UNIVERSITY · PI VANDANA SHASHI · 2023 to 2026
$3.6MIntegrative analysis of whole genomes and transcriptomes from multiple cell types in rare disease patientsR01HL161365 · NHLBI · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI Ernest Turro · 2023 to 2026
$2.6MZebrafish Resource CoreU54NS108251 · NINDS · WASHINGTON UNIVERSITY · PI SCHEDL, TIM, SOLNICAKREZEL, LILIANNA · 2018 to 2022
$2.3MCancer Research UKDeutsche Forschungsgemeinschaft (German Research Foundation) Kr1321/9-1Medical Research CouncilNHGRI NIH HHS U01 HG007672NHLBI NIH HHS R01 HL161365NINDS NIH HHS U01 NS134350NINDS NIH HHS U54 NS108251Wellcome Trust
Abstract
Members of the leucine rich repeat (LRR) and PDZ domain (LAP) protein family are essential for animal development and histogenesis. Densin-180, encoded by LRRC7, is the only LAP protein selectively expressed in neurons. Densin-180 is a postsynaptic scaffold at glutamatergic synapses, linking cytoskeletal elements with signalling proteins such as the α-subunit of Ca
Indexed as
AggressionAutistic DisorderIntellectual DisabilityAdolescentAdultAnimalsChildChild, PreschoolFemaleHEK293 CellsHumansMaleMembrane ProteinsNerve Tissue ProteinsNeuronsPDZ DomainsLRRC7 protein, humanMembrane ProteinsNerve Tissue ProteinsSialoglycoproteins
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.