WordNet

(genetics) a segment of DNA that is involved in producing a polypeptide chain; it can include regions preceding and following the coding DNA as well as introns between the exons; it is considered a unit of heredity; "genes were formerly called factors" (同)cistron, factor
the 1st letter of the Roman alphabet (同)a
the blood group whose red cells carry the A antigen (同)type_A, group A
informal term for information; "give me the gen on your new line of computers"

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1. 副腎白質ジストロフィー adrenoleukodystrophy
2. ペルオキシソーム病 peroxisomal disorders
3. 遺伝性運動失調の概要 overview of the hereditary ataxias
4. 副腎不全の稀な原因 unusual causes of adrenal insufficiency
5. 全身疾患と関連した遺伝性ニューロパチー hereditary neuropathies associated with generalized disorders

CYP4F2 affects phenotypic outcome in adrenoleukodystrophy by modulating the clearance of very long-chain fatty acids.

van Engen CE1, Ofman R1, Dijkstra IM1, van Goethem TJ1, Verheij E1, Varin J2, Vidaud M2, Wanders RJ1, Aubourg P3, Kemp S4, Barbier M5.
Biochimica et biophysica acta.Biochim Biophys Acta.2016 Oct;1862(10):1861-70. doi: 10.1016/j.bbadis.2016.07.006. Epub 2016 Jul 15.
X-linked adrenoleukodystrophy (ALD) is a severe neurodegenerative disorder caused by the accumulation of very long-chain fatty acids (VLCFA) due to mutations in the ABCD1 gene. The phenotypic spectrum ranges from a fatal cerebral demyelinating disease in childhood (cerebral ALD) to a progressive mye
PMID 27425035

Adrenoleukodystrophy - neuroendocrine pathogenesis and redefinition of natural history.

Kemp S1,2, Huffnagel IC1,3, Linthorst GE4, Wanders RJ1,2, Engelen M1,3.
Nature reviews. Endocrinology.Nat Rev Endocrinol.2016 Oct;12(10):606-15. doi: 10.1038/nrendo.2016.90. Epub 2016 Jun 17.
X-Linked adrenoleukodystrophy (ALD) is a peroxisomal metabolic disorder with a highly complex clinical presentation. ALD is caused by mutations in the ABCD1 gene, which leads to the accumulation of very long-chain fatty acids in plasma and tissues. Virtually all men with ALD develop adrenal insuffic
PMID 27312864

Extracellular vesicles released by hepatocytes from gastric infusion model of ALD contain a miRNA barcode that can be detected in blood.

Eguchi A1, Lazaro RG2, Wang J2, Kim J3, Povero D1, Willliams B4, Ho SB4,5, Stärkel P6, Schnabl B4,5, Ohno-Machado L3, Tsukamoto H2,7, Feldstein AE8.
Hepatology (Baltimore, Md.).Hepatology.2016 Sep 17. doi: 10.1002/hep.28838. [Epub ahead of print]
Extracellular vesicles (EVs) released during cell stress, or demise, can contain a barcode of the cell origin including specific microRNAs (miRNAs). Here we tested the hypothesis that during early alcoholic steatohepatitis (ASH) development, hepatocytes (HCs) release EVs with a miRNA signature that
PMID 27639178