WordNet

sequence of a genes DNA that transcribes into protein structures; "exons are interspersed with introns" (同)coding DNA

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1. 遺伝学用語集 glossary of genetic terms
2. 分子遺伝学の原理 principles of molecular genetics
3. Incontinentia pigmenti
4. まれな先天性副腎過形成 uncommon congenital adrenal hyperplasias
5. 小児における先天性中枢性低換気症候群および睡眠関連低換気症のその他の原因 congenital central hypoventilation syndrome and other causes of sleep related hypoventilation in children

Association of the Single Nucleotide Polymorphisms in RUNX1, DYRK1A, and KCNJ15 with Blood Related Traits in Pigs.

Lee JB1, Yoo CK2, Park HB3, Cho IC3, Lim HT2,4.
Asian-Australasian journal of animal sciences.Asian-Australas J Anim Sci.2016 Dec;29(12):1675-1681. Epub 2016 Dec 31.
The aim of this study was to detect positional candidate genes located within the support interval (SI) regions based on the results of red blood cell, mean corpuscular volume (MCV), and mean corpuscular hemoglobin quantitative trait locus (QTL) in Sus scrofa chromosome 13, and to verify the correla
PMID 27492348

Liu YC1,2, Lee JW1, Bellows ST1, Damiano JA1, Mullen SA1,3, Berkovic SF1, Bahlo M2, Scheffer IE1,3,4, Hildebrand MS1; Clinical Group.
Developmental medicine and child neurology.Dev Med Child Neurol.2016 Dec;58(12):1295-1302. doi: 10.1111/dmcn.13163. Epub 2016 Jun 6.
AIM: Loss-of-function mutations in SLC2A1, encoding glucose transporter-1 (GLUT-1), lead to dysfunction of glucose transport across the blood-brain barrier. Ten percent of cases with hypoglycorrhachia (fasting cerebrospinal fluid [CSF] glucose <2.2mmol/L) do not have mutations. We hypothesized th
PMID 27265003

An Application of NGS for Molecular Investigations in Perrault Syndrome: Study of 14 Families and Review of the Literature.

Lerat J1, Jonard L2, Loundon N3, Christin-Maitre S4, Lacombe D5, Goizet C5, Rouzier C6, Van Maldergem L7, Gherbi S8, Garabedian EN3, Bonnefont JP2, Touraine P9, Mosnier I10, Munnich A11, Denoyelle F3, Marlin S8.
Human mutation.Hum Mutat.2016 Dec;37(12):1354-1362. doi: 10.1002/humu.23120. Epub 2016 Oct 7.
Perrault syndrome (PS) is a rare autosomal recessive condition characterized by deafness and gonadic dysgenesis. Recently, mutations in five genes have been identified: C10orf2, CLPP, HARS2, HSD17B4, and LARS2. Probands included are presented with sensorineural deafness associated with gonadic dysge
PMID 27650058

Genetic analysis of thyroid peroxidase (TPO) gene in patients whose hypothyroidism was found in adulthood in West Bengal, India

A novel break point of the BMPR2 gene exonic deletion in a patient with pulmonary arterial hypertension