A dominant mutation in MAPKAPK3, an actor of p38 signaling pathway, causes a new retinal dystrophy involving Bruch's membrane and retinal pigment epithelium. (Record no. 25611311)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02429 a2200757 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250517072918.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201612s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1460-2083 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1093/hmg/ddv624 |
| 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 | Meunier, Isabelle |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20161213 |
| 245 00 - TITLE STATEMENT | |
| Title | A dominant mutation in MAPKAPK3, an actor of p38 signaling pathway, causes a new retinal dystrophy involving Bruch's membrane and retinal pigment epithelium. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Human molecular genetics |
| Date of publication, distribution, etc. | Mar 2016 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 916-26 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Journal Article; Research Support, Non-U.S. Gov't |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Adult |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Age of Onset |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Aged, 80 and over |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Amino Acid Sequence |
| 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 | Bruch Membrane |
| General subdivision | metabolism |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Exome |
| 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 | Gene Expression Regulation |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | HEK293 Cells |
| 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 | Intracellular Signaling Peptides and Proteins |
| General subdivision | genetics |
| 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 | Mice, Knockout |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Middle Aged |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Models, Molecular |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Molecular Sequence Data |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Mutation |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Pedigree |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Protein Serine-Threonine Kinases |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Protein Structure, Secondary |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Retinal Dystrophies |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Retinal Pigment Epithelium |
| General subdivision | metabolism |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Sequence Alignment |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Siblings |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Signal Transduction |
| General subdivision | genetics |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lenaers, Guy |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bocquet, Béatrice |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Baudoin, Corinne |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Piro-Megy, Camille |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Cubizolle, Aurélie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Quilès, Mélanie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Jean-Charles, Albert |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Cohen, Salomon Yves |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Merle, Harold |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gaudric, Alain |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Labesse, Gilles |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Manes, Gaël |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Péquignot, Marie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Cazevieille, Chantal |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Dhaenens, Claire-Marie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Fichard, Agnès |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ronkina, Natalia |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Arthur, Simon J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gaestel, Matthias |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hamel, Christian P |
| 773 0# - HOST ITEM ENTRY | |
| Title | Human molecular genetics |
| Related parts | vol. 25 |
| -- | no. 5 |
| -- | p. 916-26 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1093/hmg/ddv624">https://doi.org/10.1093/hmg/ddv624</a> |
| Public note | Available from publisher's website |
No items available.