Novel KLK4 and MMP20 mutations discovered by whole-exome sequencing

scientific article published on 25 January 2013

Novel KLK4 and MMP20 mutations discovered by whole-exome sequencing is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1177/0022034513475626
P8608Fatcat IDrelease_5c4gi3usxrf7lpdtsmz564xbqa
P932PMC publication ID3576998
P698PubMed publication ID23355523
P5875ResearchGate publication ID235377205

P50authorJohn D BartlettQ41850988
Shih-Kai WangQ55712296
P2093author name stringJ P Simmer
J C-C Hu
Y Hu
S Pal
F Seymen
M Bayram
M Yildirim
N M R P Estrella
B M Reid
P2860cites workFAM20A mutations can cause enamel-renal syndrome (ERS).Q21144895
Mutation in kallikrein 4 causes autosomal recessive hypomaturation amelogenesis imperfectaQ24298594
Whole-Exome sequencing identifies FAM20A mutations as a cause of amelogenesis imperfecta and gingival hyperplasia syndromeQ24301630
Identification of a mutation in DLX3 associated with tricho-dento-osseous (TDO) syndromeQ24310465
Mutations in ROGDI Cause Kohlschütter-Tönz SyndromeQ24601453
Fam83h is associated with intracellular vesicles and ADHCAIQ24630922
Phenotypic variation in FAM83H-associated amelogenesis imperfectaQ24643670
Mutations in CNNM4 cause Jalili syndrome, consisting of autosomal-recessive cone-rod dystrophy and amelogenesis imperfectaQ24644245
FAM83H mutations in families with autosomal-dominant hypocalcified amelogenesis imperfectaQ24655763
Mutations in the beta propeller WDR72 cause autosomal-recessive hypomaturation amelogenesis imperfectaQ24658026
MMP-20 mutation in autosomal recessive pigmented hypomaturation amelogenesis imperfectaQ24673795
Oculodentodigital dysplasia with mandibular retrognathism and absence of syndactyly: a case report with a novel mutation in the connexin 43 geneQ28302863
Enamel proteins and proteases in Mmp20 and Klk4 null and double-null miceQ28505534
Hypomaturation enamel defects in Klk4 knockout/LacZ knockin miceQ28509062
Effect of kallikrein 4 loss on enamel mineralization: comparison with mice lacking matrix metalloproteinase 20Q28586715
Target gene analyses of 39 amelogenesis imperfecta kindredsQ28731565
Mutation of the gene encoding the enamel-specific protein, enamelin, causes autosomal-dominant amelogenesis imperfectaQ34085947
Parallel mapping and simultaneous sequencing reveals deletions in BCAN and FAM83H associated with discrete inherited disorders in a domestic dog breedQ34130250
Mutations in C4orf26, encoding a peptide with in vitro hydroxyapatite crystal nucleation and growth activity, cause amelogenesis imperfectaQ34294655
Amelogenesis imperfecta: genotype-phenotype studies in 71 familiesQ35226566
Expression of kallikrein-related peptidase 4 in dental and non-dental tissuesQ35727395
Kallikrein-related peptidase 4, matrix metalloproteinase 20, and the maturation of murine and porcine enamel.Q35763516
Crystal structures of MMPs in complex with physiological and pharmacological inhibitorsQ36076479
Functions of KLK4 and MMP-20 in dental enamel formationQ37207580
Cleavage site specificity of MMP-20 for secretory-stage ameloblastin.Q39713540
Enamelysin and kallikrein-4 mRNA expression in developing mouse molarsQ44121741
Clinical and microstructural aberrations of enamel of deciduous and permanent teeth in patients with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy.Q46037176
Autosomal dominant junctional epidermolysis bullosa.Q46176854
Characterization of recombinant pig enamelysin activity and cleavage of recombinant pig and mouse amelogeninsQ74650441
Analysis of the LAMB3 gene in a junctional epidermolysis bullosa patient reveals exonic splicing and allele-specific nonsense-mediated mRNA decayQ80451280
P433issue3
P407language of work or nameEnglishQ1860
P304page(s)266-271
P577publication date2013-01-25
P1433published inJournal of Dental ResearchQ6295082
P1476titleNovel KLK4 and MMP20 mutations discovered by whole-exome sequencing
P478volume92

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cites work (P2860)
Q33734821A Fourth KLK4 Mutation Is Associated with Enamel Hypomineralisation and Structural Abnormalities
Q53787874Adaptive Evolution Favoring KLK4 Downregulation in East Asians.
Q39427065Amelogenesis Imperfecta; Genes, Proteins, and Pathways
Q33580860Analyses of MMP20 Missense Mutations in Two Families with Hypomaturation Amelogenesis Imperfecta
Q47770082Analysis and Annotation of Whole-Genome or Whole-Exome Sequencing Derived Variants for Clinical Diagnosis
Q43590500Analysis and annotation of whole-genome or whole-exome sequencing-derived variants for clinical diagnosis
Q28677179Dental enamel development: proteinases and their enamel matrix substrates
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Q33794488Evolutionary Analysis Predicts Sensitive Positions of MMP20 and Validates Newly- and Previously-Identified MMP20 Mutations Causing Amelogenesis Imperfecta
Q36447396Fam83h null mice support a neomorphic mechanism for human ADHCAI
Q51034242Homozygous and compound heterozygous MMP20 mutations in amelogenesis imperfecta.
Q34450495Hypomaturation amelogenesis imperfecta caused by a novel SLC24A4 mutation
Q40286972Inactivation of C4orf26 in toothless placental mammals.
Q26771266Involvement of Kallikrein-Related Peptidases in Normal and Pathologic Processes
Q28656290Kallikrein-related peptidase-4 (KLK4): role in enamel formation and revelations from ablated mice
Q36563056Kallikreins - The melting pot of activity and function
Q28680714LAMB3 mutations causing autosomal-dominant amelogenesis imperfecta
Q52730365MMP20 Overexpression Disrupts Molar Ameloblast Polarity and Migration.
Q37327077MMP20 modulates cadherin expression in ameloblasts as enamel develops.
Q39219086MMP20, KLK4, and MMP20/KLK4 double null mice define roles for matrix proteases during dental enamel formation
Q36569421Maternal plasma folate impacts differential DNA methylation in an epigenome-wide meta-analysis of newborns
Q37510572Matrix metalloproteinase-20 over-expression is detrimental to enamel development: a Mus musculus model
Q36923743Maturation stage enamel malformations in Amtn and Klk4 null mice
Q41129088Missense Mutation in Fam83H Gene in Iranian Patients with Amelogenesis Imperfecta.
Q111742438Molecular evolutionary analyses of tooth genes support sequential loss of enamel and teeth in baleen whales (Mysticeti)
Q35175229Novel ENAM and LAMB3 mutations in Chinese families with hypoplastic amelogenesis imperfecta
Q35633185Novel ITGB6 mutation in autosomal recessive amelogenesis imperfecta
Q50580266Novel MMP20 and KLK4 Mutations in Amelogenesis Imperfecta.
Q38362486Unleashing the therapeutic potential of human kallikrein-related serine proteases

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