Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Aditi Kidambi"'
Autor:
Megan H Brewer, Rabia Chaudhry, Jessica Qi, Aditi Kidambi, Alexander P Drew, Manoj P Menezes, Monique M Ryan, Michelle A Farrar, David Mowat, Gopinath M Subramanian, Helen K Young, Stephan Zuchner, Stephen W Reddel, Garth A Nicholson, Marina L Kennerson
Publikováno v:
PLoS Genetics, Vol 12, Iss 7, p e1006177 (2016)
With the advent of whole exome sequencing, cases where no pathogenic coding mutations can be found are increasingly being observed in many diseases. In two large, distantly-related families that mapped to the Charcot-Marie-Tooth neuropathy CMTX3 locu
Externí odkaz:
https://doaj.org/article/802b16d3182947d1825f4f2b2b24e1d9
Publikováno v:
FEMS Microbiology Letters. 368
The group A O antigen is the major surface polysaccharide of Salmonella enterica serovar Paratyphi A (SPA), and the focal point for most current vaccine development efforts. The SPA O-antigen repeat (O unit) is structurally similar to the group D1 O
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b888472a4191cbaab0478ef8abee8817
https://doi.org/10.1093/femsle/fnab009
https://doi.org/10.1093/femsle/fnab009
Autor:
Sung Min Kim, Anna Siddell, Sun Hee Hwang, Marina L. Kennerson, Young Bin Hong, Byung-Ok Choi, Aditi Kidambi, Eun Ja Kim, Ki Wha Chung
Publikováno v:
Journal of the Peripheral Nervous System. 21:45-51
Charcot-Marie-Tooth disease (CMT) is the most common inherited peripheral neuropathy. Mutations in the pyruvate dehydrogenase kinase isoenzyme 3 (PDK3) gene have been found to cause X-linked dominant CMT type 6 (CMTX6). This study identified the p.R1
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d73b3ed8b23cc0e551aff0773f6a2f10
https://doi.org/10.1111/jns.12160
https://doi.org/10.1111/jns.12160
Autor:
Aditi Kidambi, Megan H. Brewer, Alexander P. Drew, Garth A. Nicholson, Shelisa Tey, Marina L. Kennerson, Carolyn Ly, Azlina Ahmad-Annuar, Danqing Zhu
Publikováno v:
Molecular Genetics & Genomic Medicine
Inherited peripheral neuropathies (IPNs) are a group of related diseases primarily affecting the peripheral motor and sensory neurons. They include the hereditary sensory neuropathies (HSN), hereditary motor neuropathies (HMN), and Charcot-Marie-Toot
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5373d4396e80060dba7ae1f81491d79c
https://doi.org/10.1002/mgg3.126
https://doi.org/10.1002/mgg3.126
Autor:
Sandra Bermeo, Reinaldo I. Takata, Garth A. Nicholson, Carolyn Ly, Mamdouh Khalil, Marina L. Kennerson, Roxana M. Llanos, Sharon La Fontaine, Alleene V. Strickland, Aditi Kidambi, A.J. Grant, Melina Ellis, Elysia Neist, Gonzalo Perez-Siles, Stephan Züchner, Tara C. Brennan-Speranza, Julian F.B. Mercer, Carlos E. Speck-Martins
ATP7A is a P-type ATPase essential for cellular copper (Cu) transport and homeostasis. Loss-of-function ATP7A mutations causing systemic Cu deficiency are associated with severe Menkes disease or its milder allelic variant, occipital horn syndrome. W
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b1347793b8682b301f860781a2cfd6f8
https://europepmc.org/articles/PMC5586149/
https://europepmc.org/articles/PMC5586149/
Autor:
Marina L, Kennerson, Eun J, Kim, Anna, Siddell, Aditi, Kidambi, Sung M, Kim, Young B, Hong, Sun H, Hwang, Ki W, Chung, Byung-Ok, Choi
Publikováno v:
Journal of the peripheral nervous system : JPNS. 21(1)
Charcot-Marie-Tooth disease (CMT) is the most common inherited peripheral neuropathy. Mutations in the pyruvate dehydrogenase kinase isoenzyme 3 (PDK3) gene have been found to cause X-linked dominant CMT type 6 (CMTX6). This study identified the p.R1
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::1ba0297858752eb1184a66d864d73ce3
https://pubmed.ncbi.nlm.nih.gov/26801680
https://pubmed.ncbi.nlm.nih.gov/26801680
Autor:
Garth A. Nicholson, Rabia Chaudhry, Carolyn Ly, Stephan Züchner, Eppie M. Yiu, Gary Rance, Marina L. Kennerson, Martin B. Delatycki, David T. Chuang, Alexander P. Drew, Shih Chia Tso, Monique M. Ryan, Aditi Kidambi
Publikováno v:
Human molecular genetics. 22(7)
Hereditary motor and sensory disorders of the peripheral nerve form one of the most common groups of human genetic diseases collectively called Charcot–Marie–Tooth (CMT) neuropathy. Using linkage analysis in a three generation kindred, we have ma
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bf6bdd695b4cd673e0d26315d69c0517
https://pubmed.ncbi.nlm.nih.gov/23297365
https://pubmed.ncbi.nlm.nih.gov/23297365
Autor:
Marina L. Kennerson, Alexander P. Drew, Manoj P. Menezes, Gopinath M. Subramanian, Michelle A. Farrar, Stephen W. Reddel, David Mowat, Garth A. Nicholson, Monique M. Ryan, Helen Young, Aditi Kidambi, Jessica Qi, Megan H. Brewer, Stephan Züchner, Rabia Chaudhry
Publikováno v:
PLoS Genetics, Vol 12, Iss 7, p e1006177 (2016)
PLoS Genetics
PLoS Genetics
With the advent of whole exome sequencing, cases where no pathogenic coding mutations can be found are increasingly being observed in many diseases. In two large, distantly-related families that mapped to the Charcot-Marie-Tooth neuropathy CMTX3 locu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5fbd800ff4678b14b17e21e329e0a7e9
https://doi.org/10.1371/journal.pgen.1006177
https://doi.org/10.1371/journal.pgen.1006177
Autor:
Aditi Kidambi, Rabia Chaudhry, Marina L. Kennerson, Katherine D. Mathews, Megan H. Brewer, Garth A. Nicholson, Anthony Antonellis
Publikováno v:
Musclenerve. 47(6)
Introduction Charcot–Marie–Tooth (CMT) disease is a group of peripheral neuropathies affecting both motor and sensory nerves. CMTX3 is an X-linked CMT locus, which maps to chromosome Xq26.3–q27.3. Initially, CMTX3 was mapped to a 31.2-Mb region
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d0f0b3edc00953a68d3012bcc072ab01
https://pubmed.ncbi.nlm.nih.gov/23553728
https://pubmed.ncbi.nlm.nih.gov/23553728