DOI: 10.1126/science.1202205. Association of TALS Developmental Disorder with Defect in Minor Splicing Component <i>U4atac</i> snRNA

Association of TALS Developmental Disorder with Defect in Minor Splicing Component U4atac snRNA

10.1126/science.1202205

Crossref journal-article

American Association for the Advancement of Science (AAAS)

Science (221)

Abstract

Mutation in a small nuclear RNA hinders splicing of pre–messenger RNAs and causes the severe malformations of Taybi-Linder syndrome.

Bibliography

Edery, P., Marcaillou, C., Sahbatou, M., Labalme, A., Chastang, J., Touraine, R., Tubacher, E., Senni, F., Bober, M. B., Nampoothiri, S., Jouk, P.-S., Steichen, E., Berland, S., Toutain, A., Wise, C. A., Sanlaville, D., Rousseau, F., Clerget-Darpoux, F., & Leutenegger, A.-L. (2011). Association of TALS Developmental Disorder with Defect in Minor Splicing Component U4atac snRNA. Science, 332(6026), 240â243.

Authors 19

Patrick Edery (first)
Charles Marcaillou (additional)
Mourad Sahbatou (additional)
Audrey Labalme (additional)
Joelle Chastang (additional)
Renaud Touraine (additional)
Emmanuel Tubacher (additional)
Faiza Senni (additional)
Michael B. Bober (additional)
Sheela Nampoothiri (additional)
Pierre-Simon Jouk (additional)
Elisabeth Steichen (additional)
Siren Berland (additional)
Annick Toutain (additional)
Carol A. Wise (additional)
Damien Sanlaville (additional)
Francis Rousseau (additional)
Françoise Clerget-Darpoux (additional)
Anne-Louise Leutenegger (additional)

References 20 Referenced 198

Dates

Type	When
Created	14 years, 4 months ago (April 8, 2011, 1:53 a.m.)
Deposited	1 year, 7 months ago (Jan. 10, 2024, 10:44 a.m.)
Indexed	1 month ago (July 28, 2025, 5:10 p.m.)
Issued	14 years, 4 months ago (April 8, 2011)
Published	14 years, 4 months ago (April 8, 2011)
Published Print	14 years, 4 months ago (April 8, 2011)

Funders 0

None

BibTeX

@article{Edery_2011, title={Association of TALS Developmental Disorder with Defect in Minor Splicing Component U4atac snRNA}, volume={332}, ISSN={1095-9203}, url={http://dx.doi.org/10.1126/science.1202205}, DOI={10.1126/science.1202205}, number={6026}, journal={Science}, publisher={American Association for the Advancement of Science (AAAS)}, author={Edery, Patrick and Marcaillou, Charles and Sahbatou, Mourad and Labalme, Audrey and Chastang, Joelle and Touraine, Renaud and Tubacher, Emmanuel and Senni, Faiza and Bober, Michael B. and Nampoothiri, Sheela and Jouk, Pierre-Simon and Steichen, Elisabeth and Berland, Siren and Toutain, Annick and Wise, Carol A. and Sanlaville, Damien and Rousseau, Francis and Clerget-Darpoux, Françoise and Leutenegger, Anne-Louise}, year={2011}, month=apr, pages={240–243} }

JSON

{
  "indexed": {
    "date-parts": [
      [
        2025,
        7,
        28
      ]
    ],
    "date-time": "2025-07-28T21:10:51Z",
    "timestamp": 1753737051622
  },
  "reference-count": 20,
  "publisher": "American Association for the Advancement of Science (AAAS)",
  "issue": "6026",
  "content-domain": {
    "domain": [],
    "crossmark-restriction": false
  },
  "published-print": {
    "date-parts": [
      [
        2011,
        4,
        8
      ]
    ]
  },
  "abstract": "<jats:p>Mutation in a small nuclear RNA hinders splicing of pre\u2013messenger RNAs and causes the severe malformations of Taybi-Linder syndrome.</jats:p>",
  "DOI": "10.1126/science.1202205",
  "type": "journal-article",
  "created": {
    "date-parts": [
      [
        2011,
        4,
        8
      ]
    ],
    "date-time": "2011-04-08T05:53:06Z",
    "timestamp": 1302241986000
  },
  "page": "240-243",
  "source": "Crossref",
  "is-referenced-by-count": 198,
  "title": "Association of TALS Developmental Disorder with Defect in Minor Splicing Component\n            <i>U4atac</i>\n            snRNA",
  "prefix": "10.1126",
  "volume": "332",
  "author": [
    {
      "given": "Patrick",
      "family": "Edery",
      "sequence": "first",
      "affiliation": [
        {
          "name": "Hospices Civils de Lyon, Service de Cytog\u00e9n\u00e9tique Constitutionnelle, Bron, F-69677, France."
        },
        {
          "name": "Inserm, U1028; CNRS, UMR5292; Universit\u00e9 Lyon 1; Centre de Recherche en Neurosciences de Lyon, Translational and Integrative Group in Epilepsy Research, Lyon, F-69000, France."
        }
      ]
    },
    {
      "given": "Charles",
      "family": "Marcaillou",
      "sequence": "additional",
      "affiliation": [
        {
          "name": "IntegraGen, Evry, F-91030, France."
        }
      ]
    },
    {
      "given": "Mourad",
      "family": "Sahbatou",
      "sequence": "additional",
      "affiliation": [
        {
          "name": "Fondation Jean Dausset\u2014Centre d\u2019Etude du Polymorphisme Humain, Paris, F-75010, France."
        }
      ]
    },
    {
      "given": "Audrey",
      "family": "Labalme",
      "sequence": "additional",
      "affiliation": [
        {
          "name": "Hospices Civils de Lyon, Service de Cytog\u00e9n\u00e9tique Constitutionnelle, Bron, F-69677, France."
        }
      ]
    },
    {
      "given": "Joelle",
      "family": "Chastang",
      "sequence": "additional",
      "affiliation": [
        {
          "name": "Hospices Civils de Lyon, Service de Cytog\u00e9n\u00e9tique Constitutionnelle, Bron, F-69677, France."
        }
      ]
    },
    {
      "given": "Renaud",
      "family": "Touraine",
      "sequence": "additional",
      "affiliation": [
        {
          "name": "Centre Hospitalier Universitaire (CHU)\u2013H\u00f4pital Nord, Service de G\u00e9n\u00e9tique, Saint-Etienne, F-42055, France."
        }
      ]
    },
    {
      "given": "Emmanuel",
      "family": "Tubacher",
      "sequence": "additional",
      "affiliation": [
        {
          "name": "Fondation Jean Dausset\u2014Centre d\u2019Etude du Polymorphisme Humain, Paris, F-75010, France."
        }
      ]
    },
    {
      "given": "Faiza",
      "family": "Senni",
      "sequence": "additional",
      "affiliation": [
        {
          "name": "Hospices Civils de Lyon, Service de Cytog\u00e9n\u00e9tique Constitutionnelle, Bron, F-69677, France."
        }
      ]
    },
    {
      "given": "Michael B.",
      "family": "Bober",
      "sequence": "additional",
      "affiliation": [
        {
          "name": "Department of Pediatrics, Division of Medical Genetics, A. I. duPont Hospital for Children, Wilmington, DE 19803, USA."
        }
      ]
    },
    {
      "given": "Sheela",
      "family": "Nampoothiri",
      "sequence": "additional",
      "affiliation": [
        {
          "name": "Department of Pediatric Genetics, Amrita Institute of Medical Sciences and Research Center, Cochin, 682041, India."
        }
      ]
    },
    {
      "given": "Pierre-Simon",
      "family": "Jouk",
      "sequence": "additional",
      "affiliation": [
        {
          "name": "CHU Grenoble, D\u00e9partement de G\u00e9n\u00e9tique et Procr\u00e9ation, F-38043 Grenoble Cedex 9, France."
        },
        {
          "name": "Universit\u00e9 Joseph Fourier\u2013Grenoble 1, CNRS UMR 5525, Techniques de l'Ing\u00e9nierie M\u00e9dicale et de la Complexit\u00e9, Grenoble, F-38041, France."
        }
      ]
    },
    {
      "given": "Elisabeth",
      "family": "Steichen",
      "sequence": "additional",
      "affiliation": [
        {
          "name": "Department of Pediatrics, University Hospital Innsbruck, Innsbruck, 6020, Austria."
        }
      ]
    },
    {
      "given": "Siren",
      "family": "Berland",
      "sequence": "additional",
      "affiliation": [
        {
          "name": "Section of Clinical Genetics, Department of Pathology, St. Olavs Hospital, Trondheim, 7006, Norway."
        },
        {
          "name": "Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen, Norway."
        }
      ]
    },
    {
      "given": "Annick",
      "family": "Toutain",
      "sequence": "additional",
      "affiliation": [
        {
          "name": "Service de G\u00e9n\u00e9tique, Centre Hospitalier R\u00e9gional Universitaire (CHRU), H\u00f4pital Bretonneau, Tours, F-37044, France."
        },
        {
          "name": "Inserm, U930, Universit\u00e9 Fran\u00e7ois Rabelais, Tours, France."
        }
      ]
    },
    {
      "given": "Carol A.",
      "family": "Wise",
      "sequence": "additional",
      "affiliation": [
        {
          "name": "Center for Musculoskeletal Research, Texas Scottish Rite Hospital for Children, 2222 Welborn Street, Dallas, TX 75219, USA."
        }
      ]
    },
    {
      "given": "Damien",
      "family": "Sanlaville",
      "sequence": "additional",
      "affiliation": [
        {
          "name": "Hospices Civils de Lyon, Service de Cytog\u00e9n\u00e9tique Constitutionnelle, Bron, F-69677, France."
        },
        {
          "name": "Inserm, U1028; CNRS, UMR5292; Universit\u00e9 Lyon 1; Centre de Recherche en Neurosciences de Lyon, Translational and Integrative Group in Epilepsy Research, Lyon, F-69000, France."
        }
      ]
    },
    {
      "given": "Francis",
      "family": "Rousseau",
      "sequence": "additional",
      "affiliation": [
        {
          "name": "IntegraGen, Evry, F-91030, France."
        }
      ]
    },
    {
      "given": "Fran\u00e7oise",
      "family": "Clerget-Darpoux",
      "sequence": "additional",
      "affiliation": [
        {
          "name": "Inserm, U669, Villejuif, F-94804, France."
        },
        {
          "name": "Universit\u00e9 Paris Sud, UMR-S669, Villejuif, F-94804, France."
        }
      ]
    },
    {
      "given": "Anne-Louise",
      "family": "Leutenegger",
      "sequence": "additional",
      "affiliation": [
        {
          "name": "Inserm, U946, Paris, F-75010, France."
        },
        {
          "name": "Institut Universitaire d\u2019H\u00e9matologie, Universit\u00e9 Paris Diderot, UMR-S946, Paris, F-75010, France."
        }
      ]
    }
  ],
  "member": "221",
  "reference": [
    {
      "key": "e_1_3_2_2_2",
      "doi-asserted-by": "publisher",
      "DOI": "10.1148/89.2.275"
    },
    {
      "key": "e_1_3_2_3_2",
      "doi-asserted-by": "publisher",
      "DOI": "10.1002/(SICI)1096-8628(19981102)80:1<16::AID-AJMG4>3.0.CO;2-5"
    },
    {
      "key": "e_1_3_2_4_2",
      "doi-asserted-by": "publisher",
      "DOI": "10.1086/504640"
    },
    {
      "key": "e_1_3_2_5_2",
      "doi-asserted-by": "publisher",
      "DOI": "10.1086/378207"
    },
    {
      "key": "e_1_3_2_6_2",
      "doi-asserted-by": "publisher",
      "DOI": "10.1126/science.273.5283.1824"
    },
    {
      "key": "e_1_3_2_7_2",
      "doi-asserted-by": "publisher",
      "DOI": "10.1016/S0092-8674(00)81057-0"
    },
    {
      "key": "e_1_3_2_8_2",
      "doi-asserted-by": "publisher",
      "DOI": "10.1017/S1355838202017156"
    },
    {
      "key": "e_1_3_2_9_2",
      "doi-asserted-by": "publisher",
      "DOI": "10.1093/emboj/18.21.6119"
    },
    {
      "key": "e_1_3_2_10_2",
      "doi-asserted-by": "publisher",
      "DOI": "10.1016/S1097-2765(00)00131-3"
    },
    {
      "key": "e_1_3_2_11_2",
      "doi-asserted-by": "publisher",
      "DOI": "10.1093/nar/gkf609"
    },
    {
      "key": "e_1_3_2_12_2",
      "doi-asserted-by": "publisher",
      "DOI": "10.1093/emboj/cdf544"
    },
    {
      "key": "e_1_3_2_13_2",
      "doi-asserted-by": "publisher",
      "DOI": "10.1126/science.1137924"
    },
    {
      "key": "e_1_3_2_14_2",
      "doi-asserted-by": "publisher",
      "DOI": "10.1074/jbc.M603350200"
    },
    {
      "key": "e_1_3_2_15_2",
      "doi-asserted-by": "publisher",
      "DOI": "10.1093/nar/29.19.4006"
    },
    {
      "key": "e_1_3_2_16_2",
      "doi-asserted-by": "publisher",
      "DOI": "10.1093/nar/gkl796"
    },
    {
      "key": "e_1_3_2_17_2",
      "doi-asserted-by": "publisher",
      "DOI": "10.1016/S0092-8674(00)80479-1"
    },
    {
      "key": "e_1_3_2_18_2",
      "doi-asserted-by": "publisher",
      "DOI": "10.1016/S0092-8674(00)80542-5"
    },
    {
      "key": "e_1_3_2_19_2",
      "doi-asserted-by": "publisher",
      "DOI": "10.1146/annurev.biochem.76.050106.093909"
    },
    {
      "key": "e_1_3_2_20_2",
      "doi-asserted-by": "publisher",
      "DOI": "10.1016/S1097-2765(02)00441-0"
    },
    {
      "key": "e_1_3_2_21_2",
      "doi-asserted-by": "publisher",
      "DOI": "10.1371/journal.pone.0013215"
    }
  ],
  "container-title": "Science",
  "original-title": [],
  "language": "en",
  "link": [
    {
      "URL": "https://www.science.org/doi/pdf/10.1126/science.1202205",
      "content-type": "unspecified",
      "content-version": "vor",
      "intended-application": "similarity-checking"
    }
  ],
  "deposited": {
    "date-parts": [
      [
        2024,
        1,
        10
      ]
    ],
    "date-time": "2024-01-10T15:44:18Z",
    "timestamp": 1704901458000
  },
  "score": 1,
  "resource": {
    "primary": {
      "URL": "https://www.science.org/doi/10.1126/science.1202205"
    }
  },
  "subtitle": [],
  "short-title": [],
  "issued": {
    "date-parts": [
      [
        2011,
        4,
        8
      ]
    ]
  },
  "references-count": 20,
  "journal-issue": {
    "issue": "6026",
    "published-print": {
      "date-parts": [
        [
          2011,
          4,
          8
        ]
      ]
    }
  },
  "alternative-id": [
    "10.1126/science.1202205"
  ],
  "URL": "http://dx.doi.org/10.1126/science.1202205",
  "relation": {
    "has-review": [
      {
        "id-type": "doi",
        "id": "10.3410/f.10449957.11282055",
        "asserted-by": "object"
      }
    ]
  },
  "ISSN": [
    "0036-8075",
    "1095-9203"
  ],
  "subject": [],
  "container-title-short": "Science",
  "published": {
    "date-parts": [
      [
        2011,
        4,
        8
      ]
    ]
  }
}