Zobrazeno 1 - 10
of 16
pro vyhledávání: '"Elizabeth E, Norgett"'
Autor:
Beatriz Lorente-Cánovas, Neil Ingham, Elizabeth E. Norgett, Zoe J. Golder, Fiona E. Karet Frankl, Karen P. Steel
Publikováno v:
Disease Models & Mechanisms, Vol 6, Iss 2, Pp 434-442 (2013)
SUMMARY Mutations in the ATP6V0A4 gene lead to autosomal recessive distal renal tubular acidosis in patients, who often show sensorineural hearing impairment. A first Atp6v0a4 knockout mouse model that recapitulates the loss of H+-ATPase function see
Externí odkaz:
https://doaj.org/article/bcf66fb288e749b4b8814bf0f935000e
Urinary Exosomes Contain MicroRNAs Capable of Paracrine Modulation of Tubular Transporters in Kidney
Autor:
Tannia, Gracia, Xiaonan, Wang, Ya, Su, Elizabeth E, Norgett, Timothy L, Williams, Pablo, Moreno, Gos, Micklem, Fiona E, Karet Frankl
Publikováno v:
Scientific Reports
Exosomes derived from all nephron segments are present in human urine, where their functionality is incompletely understood. Most studies have focused on biomarker discovery rather than exosome function. Through sequencing we identified the miRNA rep
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2bcb83ffe90cc51f50cb04052f3a4e31
Autor:
Zoe J. Golder, Elizabeth E. Norgett, Neil J. Ingham, Karen P. Steel, Beatriz Lorente-Cánovas, Fiona E. Karet Frankl
Publikováno v:
Disease Models & Mechanisms, Vol 6, Iss 2, Pp 434-442 (2013)
Disease Models & Mechanisms
Disease Models & Mechanisms
SummaryMutations in the ATP6V0A4 gene lead to autosomal recessive distal renal tubular acidosis in patients, who often show sensorineural hearing impairment. A first Atp6v0a4 knockout mouse model that recapitulates the loss of H+-ATPase function seen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2b4162847087cd1c4c23ffe5956f4887
http://dmm.biologists.org/content/6/2/434
http://dmm.biologists.org/content/6/2/434
Autor:
Anand P Swayamprakasam, Katherine G. Blake-Palmer, Elizabeth E. Norgett, Elizabeth H. Stover, Fiona E. Karet, Michael J. Cunningham
Publikováno v:
International Medical Case Reports Journal
Autosomal recessive distal renal tubular acidosis is usually a severe disease of childhood, often presenting as failure to thrive in infancy. It is often, but not always, accompanied by sensorineural hearing loss, the clinical severity and age of ons
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::27e2b3a07612ea34253a619def21a663
http://europepmc.org/articles/PMC3658229
http://europepmc.org/articles/PMC3658229
Publikováno v:
The American Journal of Pathology. 174:970-978
One of the primary functions of skin is to form a defensive barrier against external infections and water loss. Disrupted barrier function underlies the most severe and often lethal form of recessive congenital ichthyosis, harlequin ichthyosis (HI).
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1021eab2fbc022ebd49461d4befa460a
https://doi.org/10.2353/ajpath.2009.080860
https://doi.org/10.2353/ajpath.2009.080860
Autor:
Katherine J. Borthwick, Elizabeth E. Norgett, Ya Su, Annabel N. Smith, Fiona E. Karet, Rafia S. Al-Lamki
Publikováno v:
Journal of Biological Chemistry. 282:14421-14427
The specialized H(+)-ATPases found in the inner ear and acid-handling cells in the renal collecting duct differ from those at other sites, as they contain tissue-specific subunits, such as a4 and B1, and in the kidney, C2, d2, and G3 as well. These s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4965b0a7f9cf1b77515820218be37040
https://doi.org/10.1074/jbc.m701226200
https://doi.org/10.1074/jbc.m701226200
Autor:
Louise E. Allen, Elizabeth E. Norgett, Fiona E. Karet Frankl, Abdolhamid Najafi, Katherine G. Blake-Palmer, Mostafa Sharifian, Ariana Kariminejad, Anthony Yii
Publikováno v:
BMC Medical Genetics
Background Distal Renal Tubular Acidosis is a disorder of acid-base regulation caused by functional failure of α-intercalated cells in the distal nephron. The recessive form of the disease (which is usually associated with sensorineural deafness) is
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::600a95148ac3e75a21137a6b731b971f
http://europepmc.org/articles/PMC4630852
http://europepmc.org/articles/PMC4630852
Autor:
Irene M. Leigh, Bill Bowers, Tom W. Lucke, David P. Kelsell, Elizabeth E. Norgett, Colin S. Munro
Publikováno v:
Journal of Investigative Dermatology. 126:1651-1654
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b61c8d268ca188a73b331ae8fd1b5958
https://doi.org/10.1038/sj.jid.5700291
https://doi.org/10.1038/sj.jid.5700291
Autor:
Neil J. Ingham, Zoe J. Golder, Karen P. Steel, Beatriz Lorente-Cánovas, Fiona E. Karet Frankl, Elizabeth E. Norgett
Autosomal recessive distal renal tubular acidosis (dRTA) is a severe disorder of acid–base homeostasis, often accompanied by sensorineural deafness. We and others have previously shown that mutations in the tissue-restricted a4 and B1 subunits of t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::db2e859897d055688b21861669db1ef0
https://europepmc.org/articles/PMC3427075/
https://europepmc.org/articles/PMC3427075/
Autor:
Bernd Wollnik, Oya Uyguner, Elizabeth E. Norgett, Nicholas J. Severs, S E Sahin, Emmanuel Dupont, Kemal Nisli, Memnune Yuksel-Apak, David P. Kelsell, Aygün Dindar, Hülya Kayserili, Irene M. Leigh, Abdullah Uzumcu
Publikováno v:
Scopus-Elsevier
Background: Desmosomes are cellular junctions important for intercellular adhesion and anchoring the intermediate filament (IF) cytoskeleton to the cell membrane. Desmoplakin (DSP) is the most abundant desmosomal protein with 2 isoforms produced by a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fc5eddc4ab3ee677771ac0f5ae8399c0
https://europepmc.org/articles/PMC2564645/
https://europepmc.org/articles/PMC2564645/