alanine has been researched along with Hypophosphatasia in 8 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.
Hypophosphatasia: A genetic metabolic disorder resulting from serum and bone alkaline phosphatase deficiency leading to hypercalcemia, ethanolamine phosphatemia, and ethanolamine phosphaturia. Clinical manifestations include severe skeletal defects resembling vitamin D-resistant rickets, failure of the calvarium to calcify, dyspnea, cyanosis, vomiting, constipation, renal calcinosis, failure to thrive, disorders of movement, beading of the costochondral junction, and rachitic bone changes. (From Dorland, 27th ed)
| Excerpt | Relevance | Reference |
|---|---|---|
| "A kindred with dominant hypophosphatasia resulting from an alanine to threonine substitution at position 99 of the alkaline phosphatase protein is described." | 3.70 | Characterization of a family with dominant hypophosphatasia. ( Hu, JC; Mornet, E; Plaetke, R; Simmer, JP; Sun, X; Thomas, HF; Zhang, C, 2000) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 2 (25.00) | 18.2507 |
| 2000's | 5 (62.50) | 29.6817 |
| 2010's | 1 (12.50) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Ishida, Y | 2 |
| Komaru, K | 1 |
| Oda, K | 4 |
| Watanabe, H | 2 |
| Takinami, H | 1 |
| Goseki-Sone, M | 2 |
| Orimo, H | 2 |
| Hamatani, R | 1 |
| Ishikawa, I | 2 |
| Numa, N | 1 |
| Nasu, M | 1 |
| Sohda, M | 1 |
| Misumi, Y | 2 |
| Noda, T | 1 |
| Chaidaroglou, A | 1 |
| Kantrowitz, ER | 1 |
| Shibata, H | 1 |
| Fukushi, M | 1 |
| Igarashi, A | 1 |
| Ikehara, Y | 2 |
| Ohashi, Y | 1 |
| Fukushi-Irié, M | 1 |
| Ito, M | 1 |
| Amaya, Y | 1 |
| Amizuka, N | 1 |
| Ozawa, H | 1 |
| Omura, S | 1 |
| Hu, JC | 1 |
| Plaetke, R | 1 |
| Mornet, E | 1 |
| Zhang, C | 1 |
| Sun, X | 1 |
| Thomas, HF | 1 |
| Simmer, JP | 1 |
| Hashimoto-Uoshima, M | 1 |
8 other studies available for alanine and Hypophosphatasia
| Article | Year |
|---|---|
Molecular characterization of tissue-nonspecific alkaline phosphatase with an Ala to Thr substitution at position 116 associated with dominantly inherited hypophosphatasia.
Topics: Alanine; Alkaline Phosphatase; Amino Acid Substitution; Animals; Blotting, Western; Chlorocebus aeth | 2011 |
Characterization of the mutant (A115V) tissue-nonspecific alkaline phosphatase gene from adult-type hypophosphatasia.
Topics: Alanine; Alkaline Phosphatase; Animals; Chlorocebus aethiops; COS Cells; DNA, Complementary; Female; | 2005 |
Molecular basis of perinatal hypophosphatasia with tissue-nonspecific alkaline phosphatase bearing a conservative replacement of valine by alanine at position 406. Structural importance of the crown domain.
Topics: Alanine; Alkaline Phosphatase; Animals; Chlorocebus aethiops; CHO Cells; COS Cells; Cricetinae; Cric | 2008 |
The Ala-161-->Thr substitution in Escherichia coli alkaline phosphatase does not result in loss of enzymatic activity although the homologous mutation in humans causes hypophosphatasia.
Topics: Alanine; Alkaline Phosphatase; Amino Acid Sequence; Bone and Bones; Electrophoresis, Polyacrylamide | 1993 |
Defective intracellular transport of tissue-nonspecific alkaline phosphatase with an Ala162-->Thr mutation associated with lethal hypophosphatasia.
Topics: Alanine; Alkaline Phosphatase; Amino Acid Substitution; Animals; Biological Transport; COS Cells; En | 1998 |
Possible interference between tissue-non-specific alkaline phosphatase with an Arg54-->Cys substitution and acounterpart with an Asp277-->Ala substitution found in a compound heterozygote associated with severe hypophosphatasia.
Topics: Alanine; Alkaline Phosphatase; Amino Acid Substitution; Animals; Arginine; Aspartic Acid; COS Cells; | 2000 |
Characterization of a family with dominant hypophosphatasia.
Topics: Alanine; Alkaline Phosphatase; Amino Acid Substitution; Child; Dental Cementum; Dental Enamel Hypopl | 2000 |
A novel point mutation (C571T) in the tissue-non-specific alkaline phosphatase gene in a case of adult-type hypophosphatasia.
Topics: Alanine; Alkaline Phosphatase; Alleles; Alveolar Bone Loss; Chromosomes, Human, Pair 1; Cytosine; Et | 2001 |