Page last updated: 2024-10-16

adenine and Pycnodysostosis

adenine has been researched along with Pycnodysostosis in 1 studies

Pycnodysostosis: Rare autosomal recessive syndrome characterized by delayed closing of CRANIAL SUTURES, short stature, ACRO-OSTEOLYSIS of distal phalanges, dental and MAXILLOFACIAL ABNORMALITIES and an increase in bone density that results in frequent BONE FRACTURES. It is associated with BONE RESORPTION defect due to mutations in the lysosomal cysteine protease CATHEPSIN K.

Research Excerpts

ExcerptRelevanceReference
"Patients with pycnodysostosis have been reported to present specific dental abnormalities; however, whether these dental abnormalities are related to dysfunctional CTSK has never been reported."1.42Dental Abnormalities Caused by Novel Compound Heterozygous CTSK Mutations. ( Cai, T; Dong, M; Duan, X; Gao, S; He, L; Hu, K; Li, Q; Mao, T; Shi, S; Wang, L; Xia, D; Xue, Y, 2015)

Research

Studies (1)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's0 (0.00)18.2507
2000's0 (0.00)29.6817
2010's1 (100.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Xue, Y1
Wang, L1
Xia, D1
Li, Q1
Gao, S1
Dong, M1
Cai, T1
Shi, S1
He, L1
Hu, K1
Mao, T1
Duan, X1

Other Studies

1 other study available for adenine and Pycnodysostosis

ArticleYear
Dental Abnormalities Caused by Novel Compound Heterozygous CTSK Mutations.
    Journal of dental research, 2015, Volume: 94, Issue:5

    Topics: Adenine; Adult; Alleles; Alveolar Process; Amino Acid Sequence; Animals; Cathepsin K; Chlorocebus ae

2015