Zobrazeno 1 - 10
of 32
pro vyhledávání: '"Connie S. Birkenmeier"'
Autor:
Pierre Ripoche, Pierre Gane, Yves Colin, Connie S. Birkenmeier, Olivier F. Bertrand, Jean-Pierre Cartron
Publikováno v:
Proceedings of the National Academy of Sciences. 101:17222-17227
Rhesus (Rh) antigens are carried by a membrane complex that includes Rh proteins (D and CcEe), Rh-associated glycoproteins (RhAG), and accessory chains (LW and CD47) associated by noncovalent bonds. In heterologous expression systems, RhAG and its ki
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::08b9cb674d352d8c2c8608200e4516a0
https://doi.org/10.1073/pnas.0403704101
https://doi.org/10.1073/pnas.0403704101
Autor:
Connie S. Birkenmeier, Jane E. Barker
Publikováno v:
The Journal of Pathology. 204:450-459
Although the haemolytic anaemia may be the primary concern for hereditary spherocytosis and elliptocytosis patients, it is clear that their situation can be compromised by primary and secondary defects in erythroid and non-erythroid systems of the bo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8a1d9835e27c4ef29582198de0985b66
https://doi.org/10.1002/path.1636
https://doi.org/10.1002/path.1636
Autor:
Emiliana Giacomello, Daniela Rossi, Connie S. Birkenmeier, Luca Formoso, Fabio Francini, Luana Toniolo, Bert Blaauw, Vincenzo Sorrentino, Pina Fusco, Feliciano Protasi, Carlo Reggiani, Luanne L. Peters, Marco Quarta, Cecilia Paolini, Roberta Squecco
Publikováno v:
Università degli Studi di Padova-IRIS
Muscle-specific ankyrins 1 (sAnk1) are a group of small ankyrin 1 isoforms, of which sAnk1.5 is the most abundant. sAnk1 are localized in the sarcoplasmic reticulum (SR) membrane from where they interact with obscurin, a myofibrillar protein. This in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9fa6ef858d8cd776023b7974c7fdff9b
https://hdl.handle.net/11368/2910308
https://hdl.handle.net/11368/2910308
Publikováno v:
Proceedings of the National Academy of Sciences. 97:217-221
We previously have described a mouse model for polycystic kidney disease (PKD) caused by either of two mutations, kat or kat 2J , that map to the same locus on chromosome 8. The homozygous mutant animals have a latent onset, slowly progressing form o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cbf1d221a12d0fffa15c39628a9b0054
https://doi.org/10.1073/pnas.97.1.217
https://doi.org/10.1073/pnas.97.1.217
Autor:
Robert J. Bloch, Connie S. Birkenmeier, John J. Sharp, Daixing Zhou, McRae W. Williams, Jane E. Barker
Publikováno v:
The Journal of Cell Biology
We have recently found that the erythroid ankyrin gene, Ank1 , expresses isoforms in mouse skeletal muscle, several of which share COOH-terminal sequence with previously known Ank1 isoforms but have a novel, highly hydrophobic 72–amino acid segment
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a4a177d3515ed740defe7f1703425e65
https://doi.org/10.1083/jcb.136.3.621
https://doi.org/10.1083/jcb.136.3.621
Autor:
Katie Giger, Philip S. Low, Gayani C. Kodippili, Connie S. Birkenmeier, Michael R. Hughes, Ken Ritchie, Jeff Spector, Jacob Hale, Kelly M. McNagny, Luanne L. Peters
Publikováno v:
The Journal of biological chemistry. 287(6)
Current models of the erythrocyte membrane depict three populations of band 3: (i) a population tethered to spectrin via ankyrin, (ii) a fraction attached to the spectrin-actin junctional complex via adducin, and (iii) a freely diffusing population.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::277dfb72f01468fe9e359a67eccba3bd
https://pubmed.ncbi.nlm.nih.gov/22147703
https://pubmed.ncbi.nlm.nih.gov/22147703
Publikováno v:
Blood. 82:2906-2914
Spectrin, a heterodimer of alpha and beta subunits, is an essential component of the red blood cell membrane skeleton. The jaundiced (ja/ja) mutation causes a severe hemolytic anemia in mice and is mapped to the erythroid beta-spectrin locus (Spnb-1)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::29ee827ace14fcf46cf61a29661c50fd
https://doi.org/10.1182/blood.v82.9.2906.2906
https://doi.org/10.1182/blood.v82.9.2906.2906
Publikováno v:
Mammalian Genome. 4:481-484
Urogenital syndrome (us) is a recessive mutation in mice characterized primarily by abnormalities of the axial skeleton and urogenital organs. We established linkage of us with the centromeric end of Chromosome (Chr) 2, using the Robertsonian Chr Rb(
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::684ee988a922b46d7368f9f2c7f2ab1b
https://doi.org/10.1007/bf00364781
https://doi.org/10.1007/bf00364781
Autor:
E J Hall, Jane E. Barker, Robert A. White, Connie S. Birkenmeier, Luanne L. Peters, Samuel E. Lux
Publikováno v:
Journal of Biological Chemistry. 268:9533-9540
The structural protein ankyrin functions in red blood cells to link the spectrin-based membrane skeleton to the plasma membrane. Ankyrin proteins are now known to occur in most cell types, and two distinct ankyrin genes have been identified (erythroi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::612fcbdbd3329cb1240b1f7d61b41f85
https://doi.org/10.1016/s0021-9258(18)98384-5
https://doi.org/10.1016/s0021-9258(18)98384-5
Autor:
Andreea Flavia M. Cirlan, Luanne L. Peters, Connie S. Birkenmeier, Amy J. Lambert, Marius V. Cirlan, Raymond F. Robledo, Samuel E. Lux, Dean R. Campagna
Publikováno v:
Blood. 115(9)
Five spontaneous, allelic mutations in the α-spectrin gene, Spna1, have been identified in mice (spherocytosis [sph], sph1J, sph2J, sph2BC, sphDem). All cause severe hemolytic anemia. Here, analysis of 3 new alleles reveals previously unknown conseq
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0d86b9ee4eed44cf57428601e083bcfa
https://pubmed.ncbi.nlm.nih.gov/20056793
https://pubmed.ncbi.nlm.nih.gov/20056793