Mutation in kallikrein 4 causes autosomal recessiv...[J Med Genet. 2004]

SearchDatabase nameforSearch term

Your browser version may not work well with NCBI's Web applications. More information here...

Display Show

All: 1

Review: 0

1: J Med Genet. 2004 Jul;41(7):545-9. Links

Mutation in kallikrein 4 causes autosomal recessive hypomaturation amelogenesis imperfecta.

PMID: 15235027 [PubMed - indexed for MEDLINE]

PMCID: PMC1735847

MMP20 active-site mutation in hypomaturation amelogenesis imperfecta.
J Dent Res. 2005 Nov; 84(11):1031-5.

[J Dent Res. 2005]
ReviewGenes and related proteins involved in amelogenesis imperfecta.
J Dent Res. 2005 Dec; 84(12):1117-26.

[J Dent Res. 2005]
Phenotypic diversity and revision of the nomenclature for autosomal recessive amelogenesis imperfecta.
Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2004 Feb; 97(2):220-30.

[Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2004]
Human enamel phenotype associated with amelogenesis imperfecta and a kallikrein-4 (g.2142G>A) proteinase mutation.
Eur J Oral Sci. 2006 May; 114 Suppl 1:13-7; discussion 39-41, 379.

[Eur J Oral Sci. 2006]
ReviewEnamel formation and amelogenesis imperfecta.
Cells Tissues Organs. 2007; 186(1):78-85.

[Cells Tissues Organs. 2007]
» See reviews... | » See all...

Mutations in CNNM4 cause Jalili syndrome, consisting of autosomal-recessive cone-rod dystrophy and amelogenesis imperfecta.
Parry DA, Mighell AJ, El-Sayed W, Shore RC, Jalili IK, Dollfus H, Bloch-Zupan A, Carlos R, Carr IM, Downey LM, et al. Am J Hum Genet. 2009 Feb; 84(2):266-73. Epub 2009 Feb 5.

[Am J Hum Genet. 2009]
Enamel proteases reduce amelogenin-apatite binding.
Sun Z, Fan D, Fan Y, Du C, Moradian-Oldak J. J Dent Res. 2008 Dec; 87(12):1133-7.

[J Dent Res. 2008]
ReviewFunctions of KLK4 and MMP-20 in dental enamel formation.
Lu Y, Papagerakis P, Yamakoshi Y, Hu JC, Bartlett JD, Simmer JP. Biol Chem. 2008 Jun; 389(6):695-700.

[Biol Chem. 2008]
» See all...

Your browsing activity is empty.

Activity recording is turned off.

Display Show