Structural analysis of pathogenic mutations in the DYRK1A gene in patients with developmental disorders. - Test2 - elhamkhani - TriplyDB

Structural analysis of pathogenic mutations in the DYRK1A gene in patients with developmental disorders.

Structural analysis of pathogenic mutations in the DYRK1A gene in patients with developmental disorders.

http://www.wikidata.org/entity/Q33614798

about

DNA Sequence Analysis in Clinical Medicine, Proceeding Cautiously.Inhibition of DYRK1A disrupts neural lineage specification in human pluripotent stem cells Functional characterization of DYRK1A missense variants associated with a syndromic form of intellectual deficiency and autism.

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P2860

Structural analysis of pathogenic mutations in the DYRK1A gene in patients with developmental disorders.

http://www.wikidata.org/entity/Q33614798

description

2017 nî lūn-bûn

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2017 թուականի Յունուարին հրատարակուած գիտական յօդուած

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2017 թվականի հունվարին հրատարակված գիտական հոդված

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2017年の論文

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2017年論文

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2017年論文

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2017年論文

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2017年論文

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2017年論文

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2017年论文

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name

Structural analysis of pathoge ...... with developmental disorders.

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Structural analysis of pathoge ...... with developmental disorders.

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type

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Structural analysis of pathoge ...... with developmental disorders.

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Structural analysis of pathoge ...... with developmental disorders.

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Structural analysis of pathoge ...... with developmental disorders.

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Structural analysis of pathoge ...... with developmental disorders.

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Human Molecular Genetics

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Structural analysis of pathoge ...... with developmental disorders.

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Ajoy Sarkar

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Alison Male

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Anne K Lampe

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Carol Gardiner

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Charu Deshpande

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DDD Study

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Derek Lim

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Frances Elmslie

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Frances Flinter

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Geoff Woods

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P2860

DECIPHER: database for the interpretation of phenotype-linked plausibly pathogenic sequence and copy-number variation

Case report of novel DYRK1A mutations in 2 individuals with syndromic intellectual disability and a review of the literature

Analysis of protein-coding genetic variation in 60,706 humans

Structures of Down Syndrome Kinases, DYRKs, Reveal Mechanisms of Kinase Activation and Substrate Recognition

Stereochemical quality of protein structure coordinates

The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data

The MNB/DYRK1A protein kinase: genetic and biochemical properties

Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders

Identification of the autophosphorylation sites and characterization of their effects in the protein kinase DYRK1A

Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations

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519-526

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scholarly article

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10.1093/HMG/DDW409

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3

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26

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Roman Laskowski

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2017-01-04T00:00:00Z

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28053047

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