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Joint DANDRITE & MEMBRANES Lecture - The molecular landscape of Na,K-ATPase mutations: genotype/phenotype relationships in human disease" by Dr. Kathleen J. Sweadner

05.08.2016 | PA & kommunikations medarbejder Karen Bech

Dato tor 15 sep
Tid 10:15 — 11:00
Sted The AIAS Auditorium, building 1632, 2nd floor, Høegh-Guldbergs Gade 6B, 8000 Aarhus C
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Lecture on "The molecular landscape of Na,K-ATPase mutations: genotype/phenotype relationships in human disease" by Dr. Kathleen J. Sweadner, Laboratory of Molecular Neurophysiology, Massachusetts General Hospital & Harvard Medical School


Where: The AIAS auditorium, building 1632, 2nd floor, Høegh-Guldbergs gade, 8000 Aarhus C
When: The lecture takes place Thursday the 15. Sept. 2016 from 11.15-12.00

Abstract
To date, there are over 200 mutations in subunits of Na,K-ATPases that cause human diseases. Gene carriers present with a range of symptoms, however. In most cases, a clear genotype/phenotype relationship has not been found. Genomic data on random variants and human mutations in all four of the catalytic subunit isoforms show that each one has a different pattern of mutation. The structural distributions of known mutations also differ in significant ways. The evidence indicates that entire classes of mutations are missing from the known mutations. This suggests that entirely different human phenotypes and risk factors will eventually be discovered in this important gene family.

See announcement here

Open lecture - all interested are welcome

Speaker host:
Poul Nissen, DANDRITE & Dept. Molecular Biology and Genetics, Aarhus University

Offentligheden/Pressen
Tags: NaK-ATPase, lecture, DANDRITE, neuroscience, disease

Nyhedsarkiv

Revideret 20.05.2022 - 
PA & kommunikations medarbejder Karen Bech