Академический Документы
Профессиональный Документы
Культура Документы
Team 1 Members: (1) Wandi Zhu (2) Junaid Ikram (3) Min Yang (4) Yunfei Cao (5) Harrison Seidner (6) Griffin St. Clair http://www.wix.com/33593300/bme301
Andersens Syndrome
What are the other names? Andersen-Tawil syndrome ATS Long QT syndrome 7 LQT7 Andersen cardiodysrhythmic periodic paralysis Periodic paralysis, potassium-sensitive cardiodysrhythmic type
http://ghr.nlm.nih.gov/condition/andersen-tawil-syndrome http://www.heart-consult.com/sites/default/files/diff%20lq.jpg
Anderson Syndrome
What is Andersen-Tawil syndrome? Anderson-Tawil syndrome:
Episodes of muscle weakness (periodic paralysis). Changes in heart rhythm (arrhythmia). Developmental abnormalities affect the head, face, limbs and skeletal system.
http://ghr.nlm.nih.gov/condition/andersen-tawil-syndrome
Skeletal System: Short stature and an abnormal curvature of the spine (scoliosis).
http://download.ajhg.org/images/journalimages/0002-9297/PIIS0002929707603486.gr2_lrg.hi.jpg http://www.scielo.br/img/revistas/anp/v64n3a/a09fig01.gif http://ghr.nlm.nih.gov/condition/andersen-tawil-syndrome
KCNJ2
What is KCNJ2? KCNJ2: potassium (K) inwardly-rectifying channel (CN) , subfamily J, member 2. locus | chromosome 17 | q23.1 strand | plus coordinates | 68165676 to 68176185 10.51 kbp (kilobase pairs)
http://ghr.nlm.nih.gov/gene/KCNJ2 http://www.wolframalpha.com/input/?i=KCNJ2
KCNJ2 Ontology
What is the ontology of KCNJ2? Functions: protein binding | potassium ion binding | voltage-gated ion channel activity | inward rectifier potassium channel activity (Kir2.1) Locations: dendrite | membrane | cell soma | integral to plasma membrane Processes: ion transport | potassium ion transport
http://www.wolframalpha.com/input/?i=KCNJ2
http://www-personal.umich.edu/~alopatin/Learn%20Kir%20Channels.htm#AP
http://www.ebi.ac.uk/gxa/gene/ENSG00000123700?ef=organism_part#efo=EFO_0000827
http://jcb.rupress.org/content/153/4/677.full.pdf
Works Cited:
1) 2) 3) 4) 5) 6) 7) 8) http://ghr.nlm.nih.gov/condition/andersen-tawil-syndrome http://heart-consult.com/articles/long-qt-syndrome-lqtssymptomscausesdiagnosis-and-treatment http://www.gfmer.ch/genetic_diseases_v2/gendis_detail_list.php?cat3=413 http://ghr.nlm.nih.gov/gene/KCNJ2 http://www.wolframalpha.com/input/?i=KCNJ2 http://www-personal.umich.edu/~alopatin/Learn%20Kir%20Channels.htm#AP http://www.ebi.ac.uk/gxa/gene/ENSG00000123700?ef=organism_part#efo=EFO_0000827 http://jcb.rupress.org/content/153/4/677.full.pdf