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alanine and Dyskeratosis Congenita

alanine has been researched along with Dyskeratosis Congenita in 1 studies

Alanine: A non-essential amino acid that occurs in high levels in its free state in plasma. It is produced from pyruvate by transamination. It is involved in sugar and acid metabolism, increases IMMUNITY, and provides energy for muscle tissue, BRAIN, and the CENTRAL NERVOUS SYSTEM.
alanine : An alpha-amino acid that consists of propionic acid bearing an amino substituent at position 2.

Dyskeratosis Congenita: A predominantly X-linked recessive syndrome characterized by a triad of reticular skin pigmentation, nail dystrophy and leukoplakia of mucous membranes. Oral and dental abnormalities may also be present. Complications are a predisposition to malignancy and bone marrow involvement with pancytopenia. (from Int J Paediatr Dent 2000 Dec;10(4):328-34) The X-linked form is also known as Zinsser-Cole-Engman syndrome and involves the gene which encodes a highly conserved protein called dyskerin.

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
Machado-Pinilla, R1
Carrillo, J1
Manguan-Garcia, C1
Sastre, L1
Mentzer, A1
Gu, BW1
Mason, PJ1
Perona, R1

Other Studies

1 other study available for alanine and Dyskeratosis Congenita

ArticleYear
Defects in mTR stability and telomerase activity produced by the Dkc1 A353V mutation in dyskeratosis congenita are rescued by a peptide from the dyskerin TruB domain.
    Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico, 2012, Volume: 14, Issue:10

    Topics: Alanine; Amino Acid Sequence; Amino Acid Substitution; Animals; Cell Cycle Proteins; Cells, Cultured

2012