serine has been researched along with Deafness in 3 studies
Serine: A non-essential amino acid occurring in natural form as the L-isomer. It is synthesized from GLYCINE or THREONINE. It is involved in the biosynthesis of PURINES; PYRIMIDINES; and other amino acids.
serine : An alpha-amino acid that is alanine substituted at position 3 by a hydroxy group.
Deafness: A general term for the complete loss of the ability to hear from both ears.
| Excerpt | Relevance | Reference |
|---|---|---|
| "Therefore, we hypothesize that focal palmoplantar keratoderma in gap junction skin disease may be specifically associated with connexin trafficking defects as well as with mutations affecting its extracellular domains, thus broadening the spectrum of GJB2-associated diseases." | 1.35 | A novel missense mutation in the second extracellular domain of GJB2, p.Ser183Phe, causes a syndrome of focal palmoplantar keratoderma with deafness. ( de Zwart-Storm, EA; Martin, PE; Steijlen, PM; van Geel, M; van Neer, PA; van Steensel, MA, 2008) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 1 (33.33) | 18.2507 |
| 2000's | 2 (66.67) | 29.6817 |
| 2010's | 0 (0.00) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| de Zwart-Storm, EA | 1 |
| van Geel, M | 1 |
| van Neer, PA | 1 |
| Steijlen, PM | 1 |
| Martin, PE | 1 |
| van Steensel, MA | 1 |
| Vore, AP | 1 |
| Chang, EH | 1 |
| Hoppe, JE | 1 |
| Butler, MG | 1 |
| Forrester, S | 1 |
| Schneider, MC | 1 |
| Smith, LL | 1 |
| Burke, DW | 1 |
| Campbell, CA | 1 |
| Smith, RJ | 1 |
| de Kok, YJ | 1 |
| Bom, SJ | 1 |
| Brunt, TM | 1 |
| Kemperman, MH | 1 |
| van Beusekom, E | 1 |
| van der Velde-Visser, SD | 1 |
| Robertson, NG | 1 |
| Morton, CC | 1 |
| Huygen, PL | 1 |
| Verhagen, WI | 1 |
| Brunner, HG | 1 |
| Cremers, CW | 1 |
| Cremers, FP | 1 |
3 other studies available for serine and Deafness
| Article | Year |
|---|---|
A novel missense mutation in the second extracellular domain of GJB2, p.Ser183Phe, causes a syndrome of focal palmoplantar keratoderma with deafness.
Topics: Adult; Amino Acid Sequence; Amino Acid Substitution; Base Sequence; Child, Preschool; Connexin 26; C | 2008 |
Deletion of and novel missense mutation in POU3F4 in 2 families segregating X-linked nonsyndromic deafness.
Topics: Chromosome Deletion; Chromosome Segregation; Deafness; Female; Genetic Diseases, X-Linked; Humans; L | 2005 |
A Pro51Ser mutation in the COCH gene is associated with late onset autosomal dominant progressive sensorineural hearing loss with vestibular defects.
Topics: Age of Onset; Amino Acid Substitution; Base Sequence; Chromosome Mapping; Chromosomes, Human, Pair 1 | 1999 |