WordNet

major food fish of Arctic and cold-temperate waters (同)codfish
lean white flesh of important North Atlantic food fish; usually baked or poached (同)codfish
a specific sequence of three adjacent nucleotides on a strand of DNA or RNA that specifies the genetic code information for synthesizing a particular amino acid

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1. 遺伝性疾患の基本原則 basic principles of genetic disease
2. 遺伝学用語集 glossary of genetic terms
3. 原発性免疫不全症に対する遺伝子治療 gene therapy for primary immunodeficiency
4. 表皮水疱症の疫学、病因、分類、および臨床的特徴 epidemiology pathogenesis classification and clinical features of epidermolysis bullosa
5. フォンヒッペル・リンダウ病の分子生物学および病因 molecular biology and pathogenesis of von hippel lindau disease

GNAQ and GNA11 mutations occur in 9.5% of mucosal melanoma and are associated with poor prognosis.

Sheng X1, Kong Y1, Li Y1, Zhang Q1, Si L1, Cui C1, Chi Z1, Tang B1, Mao L1, Lian B1, Wang X1, Yan X1, Li S1, Dai J1, Guo J2.
European journal of cancer (Oxford, England : 1990).Eur J Cancer.2016 Sep;65:156-63. doi: 10.1016/j.ejca.2016.06.019. Epub 2016 Aug 4.
BACKGROUND: Mucosal melanoma (MM) is a rare subtype of melanoma in Caucasians with extremely poor prognosis, and therapy strategy has not been clearly established for MM. We aimed to investigate the genetic aberrations possibly applicable in targeted therapy of MM. We examined the somatic mutations
PMID 27498141

Early T-Cell Precursor Acute Lymphoblastic Leukemia in an Infant With an NRAS Q61R Mutation and Clinical Features of Juvenile Myelomonocytic Leukemia.

Raikar SS1, Scarborough JD2, Sabnis H1, Bergsagel J1, Wu D2, Cooper TM3, Keller FG1, Wood BL2, Bunting ST4.
Pediatric blood & cancer.Pediatr Blood Cancer.2016 Sep;63(9):1667-70. doi: 10.1002/pbc.26050. Epub 2016 May 4.
Early T-cell precursor acute lymphoblastic leukemia (ETP-ALL) is a subtype of T-acute lymphoblastic leukemia (T-ALL) arising from a primitive precursor. We present a unique case of an infant with ETP-ALL with a missense NRAS mutation in codon 61 (c.182A>G, p.Q61R). The patient also had a minor po
PMID 27145535

Liška F1, Chylíková B2, Janků M2, Šeda O3, Vernerová Z4, Pravenec M5, Křen V5.
Reproduction (Cambridge, England).Reproduction.2016 Sep;152(3):215-23. doi: 10.1530/REP-16-0042. Epub 2016 Jun 22.
In the inbred SHR/OlaIpcv rat colony, we identified males with small testicles and inability to reproduce. By selectively breeding their parents, we revealed the infertility to segregate as an autosomal recessive Mendelian character. No other phenotype was observed in males, and females were complet
PMID 27335132