Identification of four novel PCDH19 Mutations and prediction of their functional impact (Q44127379)

30 November 2017

title

Identification of four novel PCDH19 Mutations and prediction of their functional impact (English)

1 reference

30 November 2017

1

1 reference

30 November 2017

2

1 reference

30 November 2017

Marilena Vecchi

3

1 reference

30 November 2017

Elisa Bettella

4

1 reference

30 November 2017

Roberta Polli

5

1 reference

30 November 2017

Luca De Palma

6

1 reference

30 November 2017

Clementina Boniver

7

1 reference

30 November 2017

Alessandra Murgia

8

1 reference

30 November 2017

language of work or name

English

0 references

publication date

17 September 2014

1 reference

30 November 2017

published in

Annals of Human Genetics

1 reference

30 November 2017

volume

78

1 reference

30 November 2017

issue

6

1 reference

30 November 2017

page(s)

389-398

1 reference

Predicting functional effect of human missense mutations using PolyPhen-2.

30 November 2017

cites work

1 reference

ConSurf 2010: calculating evolutionary conservation in sequence and structure of proteins and nucleic acids

21 January 2018

1 reference

The Universal Protein Resource (UniProt)

21 January 2018

1 reference

Early-onset epileptic encephalopathy in a girl carrying a truncating mutation of the ARX gene: rethinking the ARX phenotype in females

21 January 2018

1 reference

C-cadherin ectodomain structure and implications for cell adhesion mechanisms

21 January 2018

1 reference

SNAP predicts effect of mutations on protein function

21 January 2018

1 reference

A graph-theory algorithm for rapid protein side-chain prediction

21 January 2018

1 reference

Predicting the insurgence of human genetic diseases associated to single point protein mutations with support vector machines and evolutionary information

21 January 2018

1 reference

Multiple cadherin extracellular repeats mediate homophilic binding and adhesion

21 January 2018

1 reference

Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females

21 January 2018

1 reference

21 January 2018

1 reference

Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females

21 January 2018

1 reference

Recurrence risk of epilepsy and mental retardation in females due to parental mosaicism of PCDH19 mutations.

21 January 2018

1 reference

X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment

21 January 2018

1 reference

A complex of Protocadherin-19 and N-cadherin mediates a novel mechanism of cell adhesion

21 January 2018

1 reference

LOVD v.2.0: the next generation in gene variant databases

21 January 2018

1 reference

Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families

21 January 2018

1 reference

Novel de novo PCDH19 mutations in three unrelated females with epilepsy female restricted mental retardation syndrome

21 January 2018

1 reference

A new familial form of convulsive disorder and mental retardation limited to females

21 January 2018

1 reference

Multiple alignment of DNA sequences with MAFFT

21 January 2018

1 reference

Spatiotemporal expression pattern of non-clustered protocadherin family members in the developing rat brain

21 January 2018

1 reference

A computational model of the LGI1 protein suggests a common binding site for ADAM proteins.

21 January 2018

1 reference

Protocadherin 19 mutations in girls with infantile-onset epilepsy.

21 January 2018

1 reference

Protocadherin family: diversity, structure, and function

21 January 2018

1 reference

Structural basis of calcium-induced E-cadherin rigidification and dimerization

21 January 2018

1 reference

SIFT: Predicting amino acid changes that affect protein function

21 January 2018

1 reference

Type II cadherin ectodomain structures: implications for classical cadherin specificity.

21 January 2018

1 reference

A new crystal structure, Ca2+ dependence and mutational analysis reveal molecular details of E-cadherin homoassociation

21 January 2018

1 reference

Calcium site mutations in cadherin: impact on adhesion and evidence of cooperativity.

21 January 2018

1 reference

delta-Protocadherins: unique structures and functions

21 January 2018

1 reference

Epilepsy and mental retardation limited to females: an X-linked dominant disorder with male sparing

21 January 2018

1 reference

Spectrum of phenotypes in female patients with epilepsy due to protocadherin 19 mutations.

21 January 2018

1 reference

The Human Gene Mutation Database: 2008 update

21 January 2018

1 reference

Adhesion properties and retinofugal expression of chicken protocadherin-19.

21 January 2018

1 reference

A divide and conquer approach to fast loop modeling

21 January 2018

1 reference

GROMACS: fast, flexible, and free

21 January 2018

1 reference

Clinical and genetic aspects of PCDH19-related epilepsy syndromes and the possible role of PCDH19 mutations in males with autism spectrum disorders

21 January 2018

1 reference

Molecular design principles underlying β-strand swapping in the adhesive dimerization of cadherins

21 January 2018

1 reference

Bluues server: electrostatic properties of wild-type and mutated protein structures.

21 January 2018

1 reference

Identification and characterization of three members of a novel subclass of protocadherins

21 January 2018

1 reference

Measurement of the β-sheet-forming propensities of amino acids

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1111/AHG.12082

1 reference

30 November 2017

1 reference