adenine has been researched along with Genetic Diseases, Inborn in 6 studies
Genetic Diseases, Inborn: Diseases that are caused by genetic mutations present during embryo or fetal development, although they may be observed later in life. The mutations may be inherited from a parent's genome or they may be acquired in utero.
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 1 (16.67) | 18.7374 |
| 1990's | 1 (16.67) | 18.2507 |
| 2000's | 2 (33.33) | 29.6817 |
| 2010's | 1 (16.67) | 24.3611 |
| 2020's | 1 (16.67) | 2.80 |
| Authors | Studies |
|---|---|
| Malech, HL | 1 |
| Notarangelo, LD | 1 |
| Kiliszek, A | 1 |
| Kierzek, R | 1 |
| Krzyzosiak, WJ | 1 |
| Rypniewski, W | 1 |
| Caldovic, L | 1 |
| Morizono, H | 1 |
| Panglao, MG | 1 |
| Cheng, SF | 1 |
| Packman, S | 1 |
| Tuchman, M | 1 |
| Ghosal, G | 1 |
| Muniyappa, K | 1 |
| Tsigos, C | 1 |
| Arai, K | 1 |
| Latronico, AC | 1 |
| DiGeorge, AM | 1 |
| Rapaport, R | 1 |
| Chrousos, GP | 1 |
| Hirano, S | 1 |
| Ebina, K | 1 |
| Someno, T | 1 |
| Morita, T | 1 |
1 review available for adenine and Genetic Diseases, Inborn
| Article | Year |
|---|---|
Hoogsteen base-pairing revisited: resolving a role in normal biological processes and human diseases.
Topics: Adenine; Base Pairing; DNA; DNA Replication; G-Quadruplexes; Gene Expression Regulation; Genetic Dis | 2006 |
5 other studies available for adenine and Genetic Diseases, Inborn
| Article | Year |
|---|---|
Gene therapy for inborn errors of immunity: Base editing comes into play.
Topics: Adenine; CRISPR-Cas Systems; Gene Editing; Genetic Diseases, Inborn; Genetic Therapy; Humans; Immune | 2023 |
Atomic resolution structure of CAG RNA repeats: structural insights and implications for the trinucleotide repeat expansion diseases.
Topics: Adenine; Base Pairing; Crystallography, X-Ray; Genetic Diseases, Inborn; Humans; Ions; Models, Molec | 2010 |
Null mutations in the N-acetylglutamate synthase gene associated with acute neonatal disease and hyperammonemia.
Topics: Acetyltransferases; Adenine; Amino-Acid N-Acetyltransferase; Base Sequence; Denmark; Female; Genetic | 2003 |
A novel mutation of the adrenocorticotropin receptor (ACTH-R) gene in a family with the syndrome of isolated glucocorticoid deficiency, but no ACTH-R abnormalities in two families with the triple A syndrome.
Topics: Adenine; Adolescent; Adult; Amino Acid Sequence; Base Sequence; Cell Membrane; Cysteine; DNA; DNA Pr | 1995 |
[A case of 2,8-dihydroxy adenine renal stones with familial inheritance of partial deficiency of adenine phosphoribosyltransferase].
Topics: Adenine; Adenine Phosphoribosyltransferase; Adult; Allopurinol; Genetic Diseases, Inborn; Humans; Ki | 1986 |