Novel WDR72 mutation and cytoplasmic localization (Q24302413)

GOA release 2020-03-11

author name string

S-K Lee

1

0 references

F Seymen

2

0 references

K-E Lee

3

0 references

H-Y Kang

4

0 references

M Yildirim

5

0 references

E Bahar Tuna

6

0 references

K Gencay

7

0 references

Y-H Hwang

8

0 references

K H Nam

9

0 references

R J De La Garza

10

0 references

J C-C Hu

11

0 references

J P Simmer

12

0 references

J-W Kim

Journal of Dental Research

13

0 references

language of work or name

English

0 references

publication date

December 2010

0 references

published in

0 references

volume

89

0 references

issue

12

0 references

page(s)

1378-82

0 references

cites work

Mutations in the beta propeller WDR72 cause autosomal-recessive hypomaturation amelogenesis imperfecta

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3144073

Fam83h is associated with intracellular vesicles and ADHCAI

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3144073

Mutational spectrum of FAM83H: the C-terminal portion is required for tooth enamel calcification

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3144073

FAM83H mutations in families with autosomal-dominant hypocalcified amelogenesis imperfecta

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3144073

MMP-20 mutation in autosomal recessive pigmented hypomaturation amelogenesis imperfecta

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3144073

Mutation in kallikrein 4 causes autosomal recessive hypomaturation amelogenesis imperfecta

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3144073

A deletion in the amelogenin gene (AMG) causes X-linked amelogenesis imperfecta (AIH1)

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3144073

Amelogenin p.M1T and p.W4S mutations underlying hypoplastic X-linked amelogenesis imperfecta

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3144073

WD-repeat proteins: structure characteristics, biological function, and their involvement in human diseases

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3144073

Molecular decay of the tooth gene Enamelin (ENAM) mirrors the loss of enamel in the fossil record of placental mammals

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3144073

Hen's teeth with enamel cap: from dream to impossibility

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3144073

ENAM Mutations in Autosomal-dominant Amelogenesis Imperfecta

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3144073

Ultrastructural analyses of deciduous teeth affected by hypocalcified amelogenesis imperfecta from a family with a novel Y458X FAM83H nonsense mutation.

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3144073

Diversity of WD-repeat proteins

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3144073

27 September 2017

Mutation nomenclature

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3144073

Morphological and molecular evidence for a stepwise evolutionary transition from teeth to baleen in mysticete whales

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3144073

A new locus for autosomal dominant amelogenesis imperfecta on chromosome 8q24.3.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3144073

Mutation of the gene encoding the enamel-specific protein, enamelin, causes autosomal-dominant amelogenesis imperfecta

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3144073

Amelogenesis imperfecta: prevalence and incidence in a northern Swedish county

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3144073

Amelogenesis imperfecta among Israeli Jews and the description of a new type of local hypoplastic autosomal recessive amelogenesis imperfecta

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3144073

Prevalence and distribution by tooth type and surface of developmental defects of dental enamel in a group of 15- to 16-year-old children in South Wales

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3144073

Homology-based method for identification of protein repeats using statistical significance estimates.

30 May 2018

1 reference

Crossref

https://api.crossref.org/works/10.1177%2F0022034510382117

Expression patterns of the Fam83h gene during murine tooth development.

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1177%2F0022034510382117

Vogel and Motulsky's Human Genetics

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1177%2F0022034510382117

Heterogeneity in inherited dental traits, gingival fibromatosis and amelogenesis imperfecta

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3144073

Mutational analysis of candidate genes in 24 amelogenesis imperfecta families

29 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20938048