(Q36195863)

12 August 2017

Carpenter syndrome: extended RAB23 mutation spectrum and analysis of nonsense-mediated mRNA decay (English)

1 reference

Andrew Oliver Mungo Wilkie

12 August 2017

1 reference

10

1 reference

12 August 2017

2

Gareth Baynam

1 reference

12 August 2017

6

Louanne Hudgins

1 reference

12 August 2017

Dagan Jenkins

1

1 reference

12 August 2017

Luc De Catte

3

1 reference

12 August 2017

Nursel Elcioglu

4

1 reference

12 August 2017

Michael T Gabbett

5

1 reference

12 August 2017

Jane A Hurst

7

1 reference

12 August 2017

Fernanda Sarquis Jehee

8

1 reference

12 August 2017

Christine Oley

9

1 reference

12 August 2017

8 February 2011

1 reference

12 August 2017

1 reference

12 August 2017

32

1 reference

12 August 2017

4

1 reference

12 August 2017

E2069-78

1 reference

Metopic and sagittal synostosis in Greig cephalopolysyndactyly syndrome: five cases with intragenic mutations or complete deletions of GLI3.

12 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3429868

Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3429868

RAB23 mutations in Carpenter syndrome imply an unexpected role for hedgehog signaling in cranial-suture development and obesity

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3429868

PI(3,4,5)P3 and PI(4,5)P2 lipids target proteins with polybasic clusters to the plasma membrane

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3429868

Nonsense-mediated mRNA decay modulates clinical outcome of genetic disease

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3429868

Structural basis of family-wide Rab GTPase recognition by rabenosyn-5

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3429868

Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3429868

Targeting Rab GTPases to distinct membrane compartments

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3429868

Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutations

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3429868

Structural plasticity of an invariant hydrophobic triad in the switch regions of Rab GTPases is a determinant of effector recognition

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3429868

Beta-thalassemia due to two novel nucleotide substitutions in consensus acceptor splice sequences of the beta-globin gene.

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3429868

Metopic craniosynostosis due to mutations in GLI3: A novel association.

2 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3429868

Etiological heterogeneity and clinical characteristics of metopic synostosis: Evidence from a tertiary craniofacial unit

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3429868

RAB23 mutation in a large family from Comoros Islands with Carpenter syndrome

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3429868

Rab GTPases containing a CAAX motif are processed post-geranylgeranylation by proteolysis and methylation.

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3429868

Nonsense codon mutations in the terminal exon of the beta-globin gene are not associated with a reduction in beta-mRNA accumulation: a mechanism for the phenotype of dominant beta-thalassemia

22 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21412941

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1002/HUMU.21457

1 reference

12 August 2017

1 reference

12 August 2017

PubMed publication ID

21412941

1 reference