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Results: 8

1.

Nonsense-Mediated Decay

MedGen UID:
276589
Concept ID:
C1518412
Molecular Function
2.

PROGRESSIVE ENCEPHALOMYELITIS WITH RIGIDITY

MedGen UID:
349287
Concept ID:
C1861457
Disease or Syndrome
3.

Cataract 32

MedGen UID:
340806
Concept ID:
C1855179
Disease or Syndrome
4.

Recruitment

MedGen UID:
78772
Concept ID:
C0271510
Disease or Syndrome
5.

Papillary thyroid carcinoma

Nonmedullary thyroid cancer (NMTC) comprises thyroid cancers of follicular cell origin and accounts for more than 95% of all thyroid cancer cases (summary by Vriens et al., 2009). The remaining cancers originate from parafollicular cells (medullary thyroid cancer, MTC; 155240). NMTC is classified into 4 groups: papillary, follicular (188470), Hurthle cell (607464), and anaplastic. Approximately 5% of NMTC is hereditary, occurring as a component of a familial cancer syndrome (e.g., familial adenomatous polyposis 175100, Carney complex 160980) or as a primary feature (familial NMTC or FNMTC). Papillary thyroid cancer (PTC) is the most common histologic subtype of FNMTC, accounting for approximately 85% of cases. PTC is characterized by distinctive nuclear alterations including pseudoinclusions, grooves, and chromatin clearing (summary by Bonora et al., 2010). PTCs smaller than 1 cm are referred to as papillary microcarcinomas. These tumors have been identified in up to 35% of individuals at autopsy, suggesting that they may be extremely common although rarely clinically relevant. PTC can also be multifocal but is typically slow-growing with a tendency to spread to lymph nodes and usually has an excellent prognosis. [from OMIM]

MedGen UID:
66773
Concept ID:
C0238463
Neoplastic Process
6.

Peptide Biosynthesis

The chemical reactions and pathways resulting in the formation of peptides, compounds of 2 or more (but usually less than 100) amino acids where the alpha carboxyl group of one is bound to the alpha amino group of another. This may include the translation of a precursor protein and its subsequent processing into a functional peptide. [CHEBI:16670, GOC:dph, GOC:jl] [from GO]

MedGen UID:
272130
Concept ID:
C1327133
Molecular Function
7.

Genetic translation

ribosome mediated process by which polypeptide chains are synthesized, the aminoacid sequence being completely determined by the sequence of bases in a messenger RNA, which in turn is determined by the sequences of bases in the DNA of the gene from which it was transcribed. [from CRISP]

MedGen UID:
108933
Concept ID:
C0597295
Molecular Function
8.

Nonsense mutation

A mutation that converts a sense codon (CODON) into a stop codon (CODON, TERMINATOR) or an unassigned codon and leads to the formation of truncated proteins. [from MeSH]

MedGen UID:
107464
Concept ID:
C0544885
Cell or Molecular Dysfunction

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