Congenital hereditary endothelial dystrophy caused by SLC4A11 mutations progresses to Harboyan syndrome.
about
SLC4A11 and the Pathophysiology of Congenital Hereditary Endothelial DystrophySLC4A11 Three-Dimensional Homology Model Rationalizes Corneal Dystrophy-Causing Mutations.Glutaminolysis is Essential for Energy Production and Ion Transport in Human Corneal Endothelium.Human SLC4A11-C functions as a DIDS-stimulatable H⁺(OH⁻) permeation pathway: partial correction of R109H mutant transport.Human SLC4A11 Is a Novel NH3/H+ Co-transporter.Congenital Corneal Endothelial Dystrophies Resulting From Novel De Novo Mutations.Conditionally Immortal Slc4a11-/- Mouse Corneal Endothelial Cell Line Recapitulates Disrupted Glutaminolysis Seen in Slc4a11-/- Mouse Model.Functional assessment of SLC4A11, an integral membrane protein mutated in corneal dystrophies.
P2860
Q26785510-F5010D66-D98F-4F6A-8196-F0FB35A0BC4FQ30396131-9B3D1D83-A05E-4EE3-86DA-FB623446019AQ33809428-063F827D-1087-4AD5-9AEB-07D718DB1CC5Q34980472-26DFA639-0E1E-4784-8B03-0A3F2616AD84Q35860561-F311F29F-A635-43C9-B874-20AA615C71E8Q36446667-1B02DA52-D8AD-4034-981D-680FDE646789Q38696524-4FC887A2-647A-4883-A1D0-30C2CF05E1E1Q38734404-3BCDDDC7-6ACB-4F75-80BE-6D40C14CC0BD
P2860
Congenital hereditary endothelial dystrophy caused by SLC4A11 mutations progresses to Harboyan syndrome.
description
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2014年論文
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2014年論文
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2014年論文
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2014年論文
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2014年論文
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name
Congenital hereditary endothel ...... ogresses to Harboyan syndrome.
@ast
Congenital hereditary endothel ...... ogresses to Harboyan syndrome.
@en
Congenital hereditary endothel ...... ogresses to Harboyan syndrome.
@en-gb
Congenital hereditary endothel ...... ogresses to Harboyan syndrome.
@nl
type
label
Congenital hereditary endothel ...... ogresses to Harboyan syndrome.
@ast
Congenital hereditary endothel ...... ogresses to Harboyan syndrome.
@en
Congenital hereditary endothel ...... ogresses to Harboyan syndrome.
@en-gb
Congenital hereditary endothel ...... ogresses to Harboyan syndrome.
@nl
prefLabel
Congenital hereditary endothel ...... ogresses to Harboyan syndrome.
@ast
Congenital hereditary endothel ...... ogresses to Harboyan syndrome.
@en
Congenital hereditary endothel ...... ogresses to Harboyan syndrome.
@en-gb
Congenital hereditary endothel ...... ogresses to Harboyan syndrome.
@nl
P2093
P2860
P50
P1154
2-s2.0-84894060050
P1433
P1476
Congenital hereditary endothel ...... ogresses to Harboyan syndrome.
@en
P2093
David M Spokes
Juan Carlos Zenteno
Nigel James
Oscar Chacón-Camacho
Salina Siddiqui
Steven G Naylor
P2860
P304
P356
10.1097/ICO.0000000000000041
P5530
P577
2014-03-01T00:00:00Z
P6179
1051176825