{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,11]],"date-time":"2025-12-11T12:35:13Z","timestamp":1765456513813,"version":"3.46.0"},"reference-count":27,"publisher":"Elsevier BV","issue":"4","license":[{"start":{"date-parts":[[2025,8,1]],"date-time":"2025-08-01T00:00:00Z","timestamp":1754006400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2025,8,1]],"date-time":"2025-08-01T00:00:00Z","timestamp":1754006400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["brainanddevelopment.com","clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Brain and Development"],"published-print":{"date-parts":[[2025,8]]},"DOI":"10.1016\/j.braindev.2025.104393","type":"journal-article","created":{"date-parts":[[2025,7,9]],"date-time":"2025-07-09T06:57:56Z","timestamp":1752044276000},"page":"104393","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":0,"title":["Biallelic novel CCDC186 loss-of-function variant disrupting the gene function causes neurodevelopmental phenotype and review of the literature"],"prefix":"10.1016","volume":"47","author":[{"given":"Alper","family":"Gezdirici","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sultan Buse","family":"Turk","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tuna Eren","family":"Esen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cuneyd","family":"Yavas","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ekrem","family":"Akbulut","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Halil Ibrahim","family":"Yilmaz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zeynep Oz","family":"Dagdelen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pinar","family":"Arican","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mustafa","family":"Dogan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.braindev.2025.104393_bb0005","doi-asserted-by":"crossref","first-page":"2725","DOI":"10.1007\/s43032-021-00595-2","article-title":"Coiled-coil domain-containing (CCDC) proteins: functional roles in general and male reproductive physiology","volume":"28","author":"Priyanka","year":"2021","journal-title":"Reprod Sci"},{"key":"10.1016\/j.braindev.2025.104393_bb0010","doi-asserted-by":"crossref","first-page":"720","DOI":"10.1111\/tra.12507","article-title":"The dense-core vesicle maturation protein CCCP-1 binds RAB-2 and membranes through its C-terminal domain","volume":"18","author":"Cattin-Ortol\u00e1","year":"2017","journal-title":"Traffic"},{"key":"10.1016\/j.braindev.2025.104393_bb0015","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1016\/B978-0-12-394310-1.00002-3","article-title":"Cellular mechanisms for the biogenesis and transport of synaptic and dense-core vesicles","volume":"299","author":"Gondre-Lewis","year":"2012","journal-title":"Int Rev Cell Mol Biol"},{"key":"10.1016\/j.braindev.2025.104393_bb0020","doi-asserted-by":"crossref","first-page":"167","DOI":"10.1016\/j.neuron.2014.02.017","article-title":"Two Rab2 interactors regulate dense-core vesicle maturation","volume":"82","author":"Ailion","year":"2014","journal-title":"Neuron"},{"key":"10.1016\/j.braindev.2025.104393_bb0025","doi-asserted-by":"crossref","first-page":"881","DOI":"10.1083\/jcb.200902095","article-title":"Impaired dense core vesicle maturation in Caenorhabditis elegans mutants lacking Rab2","volume":"186","author":"Edwards","year":"2009","journal-title":"J Cell Biol"},{"key":"10.1016\/j.braindev.2025.104393_bb0030","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pgen.1006074","article-title":"The EARP complex and its interactor EIPR-1 are required for cargo sorting to dense-Core vesicles","volume":"12","author":"Topalidou","year":"2016","journal-title":"PLoS Genet"},{"key":"10.1016\/j.braindev.2025.104393_bb0035","doi-asserted-by":"crossref","first-page":"303","DOI":"10.1136\/jmedgenet-2013-101823","article-title":"VPS53 mutations cause progressive cerebello-cerebral atrophy type 2 (PCCA2)","volume":"51","author":"Feinstein","year":"2014","journal-title":"J Med Genet"},{"key":"10.1016\/j.braindev.2025.104393_bb0040","doi-asserted-by":"crossref","first-page":"1133","DOI":"10.1016\/j.ejpn.2018.07.003","article-title":"Progressive cerebello-cerebral atrophy and progressive encephalopathy with edema, hypsarrhythmia and optic atrophy may be allelic syndromes","volume":"22","author":"Hady-Cohen","year":"2018","journal-title":"Eur J Paediatr Neurol"},{"key":"10.1016\/j.braindev.2025.104393_bb0045","doi-asserted-by":"crossref","first-page":"1548","DOI":"10.1093\/hmg\/ddy423","article-title":"A neurodevelopmental disorder caused by mutations in the VPS51 subunit of the GARP and EARP complexes","volume":"28","author":"Gershlick","year":"2019","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.braindev.2025.104393_bb0050","doi-asserted-by":"crossref","first-page":"12319","DOI":"10.3390\/ijms241512319","article-title":"Functional evidence of CCDC186 as a new disease-associated gene with endocrine and central nervous system alterations","volume":"24","author":"Arrabal","year":"2023","journal-title":"Int J Mol Sci"},{"key":"10.1016\/j.braindev.2025.104393_bb0055","doi-asserted-by":"crossref","first-page":"278","DOI":"10.1002\/acn3.51260","article-title":"A homozygous truncating variant in CCDC186 in an individual with epileptic encephalopathy","volume":"8","author":"Brugger","year":"2021","journal-title":"Ann Clin Transl Neurol"},{"key":"10.1016\/j.braindev.2025.104393_bb0060","doi-asserted-by":"crossref","first-page":"921","DOI":"10.1007\/s00439-017-1821-8","article-title":"The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes","volume":"136","author":"Monies","year":"2017","journal-title":"Hum Genet"},{"key":"10.1016\/j.braindev.2025.104393_bb0065","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of medical genetics and genomics and the association for molecular pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet Med"},{"key":"10.1016\/j.braindev.2025.104393_bb0070","doi-asserted-by":"crossref","first-page":"3022","DOI":"10.1093\/molbev\/msab120","article-title":"MEGA11: molecular evolutionary genetics analysis version 11","volume":"38","author":"Tamura","year":"2021","journal-title":"Mol Biol Evol"},{"key":"10.1016\/j.braindev.2025.104393_bb0075","doi-asserted-by":"crossref","first-page":"3059","DOI":"10.1093\/nar\/gkf436","article-title":"MAFFT: a novel method for rapid multiple sequence alignment based on fast fourier transform","volume":"30","author":"Katoh","year":"2002","journal-title":"Nucleic Acids Res"},{"key":"10.1016\/j.braindev.2025.104393_bb0080","doi-asserted-by":"crossref","first-page":"D605","DOI":"10.1093\/nar\/gkaa1074","article-title":"The STRING database in 2021: customizable protein\u2013protein networks, and functional characterization of user-uploaded gene\/measurement sets","volume":"49","author":"Szklarczyk","year":"2021","journal-title":"Nucleic Acids Res"},{"key":"10.1016\/j.braindev.2025.104393_bb0085","doi-asserted-by":"crossref","DOI":"10.1093\/bioadv\/vbac059","article-title":"ProteinPrompt: a webserver for predicting protein-protein interactions","volume":"2","author":"Canzler","year":"2022","journal-title":"Bioinform Adv"},{"key":"10.1016\/j.braindev.2025.104393_bb0090","doi-asserted-by":"crossref","first-page":"871","DOI":"10.1126\/science.abj8754","article-title":"Accurate prediction of protein structures and interactions using a three-track neural network","volume":"373","author":"Baek","year":"2021","journal-title":"Science"},{"key":"10.1016\/j.braindev.2025.104393_bb0095","doi-asserted-by":"crossref","first-page":"12","DOI":"10.1107\/S0907444909042073","article-title":"MolProbity: all-atom structure validation for macromolecular crystallography","volume":"66","author":"Chen","year":"2010","journal-title":"Acta Crystallogr D Biol Crystallogr"},{"key":"10.1016\/j.braindev.2025.104393_bb0100","doi-asserted-by":"crossref","first-page":"23","DOI":"10.23902\/trkjnat.774926","article-title":"SARS CoV-2 spike glycoprotein mutations and changes in protein structure","volume":"22","author":"Akbulut","year":"2021","journal-title":"Trak Univ J Nat Sci"},{"key":"10.1016\/j.braindev.2025.104393_bb0105","doi-asserted-by":"crossref","first-page":"1025","DOI":"10.1038\/s44320-024-00055-4","article-title":"Proteome-scale characterisation of motif-based interactome rewiring by disease mutations","volume":"20","author":"Kliche","year":"2024","journal-title":"Mol Syst Biol"},{"key":"10.1016\/j.braindev.2025.104393_bb0110","doi-asserted-by":"crossref","first-page":"3919","DOI":"10.1016\/j.jmb.2013.07.014","article-title":"Molecular mechanisms of disease-causing missense mutations","volume":"425","author":"Stefl","year":"2013","journal-title":"J Mol Biol"},{"key":"10.1016\/j.braindev.2025.104393_bb0115","doi-asserted-by":"crossref","first-page":"381","DOI":"10.3390\/biom11030381","article-title":"Mutations of intrinsically disordered protein regions can drive cancer but lack therapeutic strategies","volume":"11","author":"M\u00e9sz\u00e1ros","year":"2021","journal-title":"Biomolecules"},{"key":"10.1016\/j.braindev.2025.104393_bb0120","doi-asserted-by":"crossref","first-page":"147","DOI":"10.3390\/biom9040147","article-title":"Intrinsically disordered proteins in chronic diseases","volume":"9","author":"Kulkarni","year":"2019","journal-title":"Biomolecules"},{"key":"10.1016\/j.braindev.2025.104393_bb0125","doi-asserted-by":"crossref","first-page":"18","DOI":"10.1038\/nrm3920","article-title":"Intrinsically disordered proteins in cellular signalling and regulation","volume":"16","author":"Wright","year":"2015","journal-title":"Nat Rev Mol Cell Biol"},{"key":"10.1016\/j.braindev.2025.104393_bb0130","doi-asserted-by":"crossref","first-page":"768","DOI":"10.1091\/mbc.e06-12-1066","article-title":"BLOC-1 is required for cargo-specific sorting from vacuolar early endosomes toward lysosome-related organelles","volume":"18","author":"Setty","year":"2007","journal-title":"Mol Biol Cell"},{"key":"10.1016\/j.braindev.2025.104393_bb0135","doi-asserted-by":"crossref","first-page":"7568","DOI":"10.1074\/jbc.M704097200","article-title":"The dystonia-associated protein torsinA modulates synaptic vesicle recycling","volume":"283","author":"Granata","year":"2008","journal-title":"J Biol Chem"}],"container-title":["Brain and Development"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0387760425000750?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0387760425000750?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,12,11]],"date-time":"2025-12-11T12:31:00Z","timestamp":1765456260000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0387760425000750"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,8]]},"references-count":27,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2025,8]]}},"alternative-id":["S0387760425000750"],"URL":"https:\/\/doi.org\/10.1016\/j.braindev.2025.104393","relation":{},"ISSN":["0387-7604"],"issn-type":[{"type":"print","value":"0387-7604"}],"subject":[],"published":{"date-parts":[[2025,8]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Biallelic novel CCDC186 loss-of-function variant disrupting the gene function causes neurodevelopmental phenotype and review of the literature","name":"articletitle","label":"Article Title"},{"value":"Brain and Development","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.braindev.2025.104393","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2024 The Japanese Society of Child Neurology. Elsevier B.V.","name":"copyright","label":"Copyright"}],"article-number":"104393"}}