Mutations in the HECT domain of NEDD4L lead to AKT-mTOR pathway deregulation and cause periventricular nodular heterotopia. (Record no. 26476608)
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|---|---|
| fixed length control field | 02662 a2200841 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250517120308.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201709s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1546-1718 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1038/ng.3676 |
| Source of number or code | doi |
| 040 ## - CATALOGING SOURCE | |
| Original cataloging agency | NLM |
| Language of cataloging | eng |
| Transcribing agency | NLM |
| 100 1# - MAIN ENTRY--PERSONAL NAME | |
| Personal name | Broix, Loïc |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20170908 |
| 245 00 - TITLE STATEMENT | |
| Title | Mutations in the HECT domain of NEDD4L lead to AKT-mTOR pathway deregulation and cause periventricular nodular heterotopia. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Nature genetics |
| Date of publication, distribution, etc. | 11 2016 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 1349-1358 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Journal Article |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Animals |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Cells, Cultured |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Endosomal Sorting Complexes Required for Transport |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Female |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Humans |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Male |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Mice |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Mutation, Missense |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Nedd4 Ubiquitin Protein Ligases |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Periventricular Nodular Heterotopia |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Protein Domains |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Proto-Oncogene Proteins c-akt |
| General subdivision | metabolism |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Signal Transduction |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | TOR Serine-Threonine Kinases |
| General subdivision | metabolism |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Ubiquitin |
| General subdivision | metabolism |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Ubiquitin-Protein Ligases |
| General subdivision | genetics |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Jagline, Hélène |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ivanova, Ekaterina |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Schmucker, Stéphane |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Drouot, Nathalie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Clayton-Smith, Jill |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Pagnamenta, Alistair T |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Metcalfe, Kay A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Isidor, Bertrand |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Louvier, Ulrike Walther |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Poduri, Annapurna |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Taylor, Jenny C |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Tilly, Peggy |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Poirier, Karine |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Saillour, Yoann |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lebrun, Nicolas |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Stemmelen, Tristan |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rudolf, Gabrielle |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Muraca, Giuseppe |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Saintpierre, Benjamin |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Elmorjani, Adrienne |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Moïse, Martin |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Weirauch, Nathalie Bednarek |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Guerrini, Renzo |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Boland, Anne |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Olaso, Robert |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Masson, Cecile |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Tripathy, Ratna |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Keays, David |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Beldjord, Cherif |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Nguyen, Laurent |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Godin, Juliette |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kini, Usha |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Nischké, Patrick |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Deleuze, Jean-François |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bahi-Buisson, Nadia |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sumara, Izabela |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hinckelmann, Maria-Victoria |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Chelly, Jamel |
| 773 0# - HOST ITEM ENTRY | |
| Title | Nature genetics |
| Related parts | vol. 48 |
| -- | no. 11 |
| -- | p. 1349-1358 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1038/ng.3676">https://doi.org/10.1038/ng.3676</a> |
| Public note | Available from publisher's website |
No items available.