lens disease

Literature (20)

Literature for DOID 110: lens disease

Xenbase Articles Publications associated with this Disease Ontology entry or its descendants

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A novel GJA8 mutation is associated with autosomal dominant lamellar pulverulent cataract: further evidence for gap junction dysfunction in human cataract., Arora A,Minogue PJ,Liu X,Reddy MA,Ainsworth JR,Bhattacharya SS,Webster AR,Hunt DM,Ebihara L,Moore AT,Beyer EC,Berthoud VM, J Med Genet. January 1, 2006; 43(1):1468-6244.
Neural and eye-specific defects associated with loss of the imitation switch (ISWI) chromatin remodeler in Xenopus laevis., Dirscherl SS,Henry JJ,Krebs JE, Mech Dev. November 1, 2005; 122(11):1872-6356.
A novel missense mutation in the sodium bicarbonate cotransporter (NBCe1/SLC4A4) causes proximal tubular acidosis and glaucoma through ion transport defects., Dinour D,Chang MH,Satoh J,Smith BL,Smith BL,Angle N,Knecht A,Serban I,Holtzman EJ,Romero MF, J Biol Chem. December 10, 2004; 279(50):1083-351X.
Single-channel SCAM identifies pore-lining residues in the first extracellular loop and first transmembrane domains of Cx46 hemichannels., Kronengold J,Trexler EB,Bukauskas FF,Bargiello TA,Verselis VK, J Gen Physiol. October 1, 2003; 122(4):1540-7748.
Molecular mechanism underlying a Cx50-linked congenital cataract., Pal JD,Berthoud VM,Beyer EC,Mackay D,Shiels A,Ebihara L, Am J Physiol. June 1, 1999; 276(6):0002-9513.
A novel connexin50 mutation associated with congenital nuclear pulverulent cataracts., Arora A,Minogue PJ,Liu X,Addison PK,Russel-Eggitt I,Webster AR,Hunt DM,Ebihara L,Beyer EC,Berthoud VM,Moore AT, J Med Genet. March 1, 2008; 45(3):1468-6244.
The cataract-associated protein TMEM114, and TMEM235, are glycosylated transmembrane proteins that are distinct from claudin family members., Maher GJ,Hilton EN,Urquhart JE,Davidson AE,Spencer HL,Black GC,Manson FD, FEBS Lett. July 21, 2011; 585(14):1873-3468.
An MIP/AQP0 mutation with impaired trafficking and function underlies an autosomal dominant congenital lamellar cataract., Senthil Kumar G,Kyle JW,Minogue PJ,Dinesh Kumar K,Vasantha K,Berthoud VM,Beyer EC,Santhiya ST, Exp Eye Res. May 1, 2013; 110:0014-4835.
Functional characterization of an AQP0 missense mutation, R33C, that causes dominant congenital lens cataract, reveals impaired cell-to-cell adhesion., Kumari SS,Gandhi J,Mustehsan MH,Eren S,Varadaraj K, Exp Eye Res. November 1, 2013; 116:0014-4835.
The cataract and glucosuria associated monocarboxylate transporter MCT12 is a new creatine transporter., Abplanalp J,Laczko E,Philp NJ,Neidhardt J,Zuercher J,Braun P,Schorderet DF,Munier FL,Verrey F,Berger W,Camargo SM,Kloeckener-Gruissem B, Hum Mol Genet. August 15, 2013; 22(16):1460-2083.
Osmostress-induced apoptosis in Xenopus oocytes: role of stress protein kinases, calpains and Smac/DIABLO., Ben Messaoud N,Yue J,Valent D,Katzarova I,López JM, PLoS One. January 1, 2015; 10(4):1932-6203.
The UNC-45 myosin chaperone: from worms to flies to vertebrates., Lee CF,Lee CF,Lee CF,Melkani GC,Bernstein SI, Int Rev Cell Mol Biol. January 1, 2014; 313:1937-6448.
The cataract related mutation N188T in human connexin46 (hCx46) revealed a critical role for residue N188 in the docking process of gap junction channels., Schadzek P,Schlingmann B,Schaarschmidt F,Lindner J,Koval M,Heisterkamp A,Preller M,Ngezahayo A, Biochim Biophys Acta. January 1, 2016; 1858(1):0006-3002.
An Epha4/Sipa1l3/Wnt pathway regulates eye development and lens maturation., Rothe M,Kanwal N,Dietmann P,Seigfried FA,Hempel A,Schütz D,Reim D,Engels R,Linnemann A,Schmeisser MJ,Bockmann J,Kühl M,Boeckers TM,Kühl SJ, Development. January 15, 2017; 144(2):1477-9129.
Abnormal creatine transport of mutations in monocarboxylate transporter 12 (MCT12) found in patients with age-related cataract can be partially rescued by exogenous chaperone CD147., Stäubli A,Capatina N,Fuhrer Y,Munier FL,Labs S,Schorderet DF,Tiwari A,Verrey F,Heon E,Cheng CY,Wong TY,Berger W,Camargo SMR,Kloeckener-Gruissem B, Hum Mol Genet. November 1, 2017; 26(21):1460-2083.
A novel MIP mutation in a Chinese family with congenital cataract., Yuan C,Han T,Su P,Liu M,Zhou X,Zhou X,Zhang D,Jia W,Wang A,Yue M,Xiang Z,Chen L,Zhang X, Ophthalmic Genet. August 1, 2018; 39(4):1744-5094.
Modeling ocular lens disease in Xenopus., Viet J,Reboutier D,Hardy S,Lachke SA,Paillard L,Gautier-Courteille C, Dev Dyn. May 1, 2020; 249(5):1058-8388.
The Tudor-domain protein TDRD7, mutated in congenital cataract, controls the heat shock protein HSPB1 (HSP27) and lens fiber cell morphology., Barnum CE,Al Saai S,Patel SD,Cheng C,Anand D,Xu X,Dash S,Siddam AD,Glazewski L,Paglione E,Polson SW,Chuma S,Mason RW,Wei S,Batish M,Fowler VM,Lachke SA, Hum Mol Genet. July 29, 2020; 29(12):1460-2083.
Biallelic variants in COPB1 cause a novel, severe intellectual disability syndrome with cataracts and variable microcephaly., Macken WL,Godwin A,Wheway G,Stals K,Nazlamova L,Ellard S,Alfares A,Aloraini T,AlSubaie L,Alfadhel M,Alajaji S,Wai HA,Self J,Douglas AGL,Kao AP,Guille M,Baralle D, Genome Med. February 25, 2021; 13(1):1756-994X.
Molecular mechanisms underlying enhanced hemichannel function of a cataract-associated Cx50 mutant., Tong JJ,Khan U,Haddad BG,Minogue PJ,Beyer EC,Berthoud VM,Reichow SL,Ebihara L, Biophys J. December 21, 2021; 120(24):1542-0086.

A novel GJA8 mutation is associated with autosomal dominant lamellar pulverulent cataract: further evidence for gap junction dysfunction in human cataract., Arora A,Minogue PJ,Liu X,Reddy MA,Ainsworth JR,Bhattacharya SS,Webster AR,Hunt DM,Ebihara L,Moore AT,Beyer EC,Berthoud VM, J Med Genet. January 1, 2006; 43(1):1468-6244.

Neural and eye-specific defects associated with loss of the imitation switch (ISWI) chromatin remodeler in Xenopus laevis., Dirscherl SS,Henry JJ,Krebs JE, Mech Dev. November 1, 2005; 122(11):1872-6356.

A novel missense mutation in the sodium bicarbonate cotransporter (NBCe1/SLC4A4) causes proximal tubular acidosis and glaucoma through ion transport defects., Dinour D,Chang MH,Satoh J,Smith BL,Smith BL,Angle N,Knecht A,Serban I,Holtzman EJ,Romero MF, J Biol Chem. December 10, 2004; 279(50):1083-351X.

Single-channel SCAM identifies pore-lining residues in the first extracellular loop and first transmembrane domains of Cx46 hemichannels., Kronengold J,Trexler EB,Bukauskas FF,Bargiello TA,Verselis VK, J Gen Physiol. October 1, 2003; 122(4):1540-7748.

Molecular mechanism underlying a Cx50-linked congenital cataract., Pal JD,Berthoud VM,Beyer EC,Mackay D,Shiels A,Ebihara L, Am J Physiol. June 1, 1999; 276(6):0002-9513.

A novel connexin50 mutation associated with congenital nuclear pulverulent cataracts., Arora A,Minogue PJ,Liu X,Addison PK,Russel-Eggitt I,Webster AR,Hunt DM,Ebihara L,Beyer EC,Berthoud VM,Moore AT, J Med Genet. March 1, 2008; 45(3):1468-6244.

The cataract-associated protein TMEM114, and TMEM235, are glycosylated transmembrane proteins that are distinct from claudin family members., Maher GJ,Hilton EN,Urquhart JE,Davidson AE,Spencer HL,Black GC,Manson FD, FEBS Lett. July 21, 2011; 585(14):1873-3468.

An MIP/AQP0 mutation with impaired trafficking and function underlies an autosomal dominant congenital lamellar cataract., Senthil Kumar G,Kyle JW,Minogue PJ,Dinesh Kumar K,Vasantha K,Berthoud VM,Beyer EC,Santhiya ST, Exp Eye Res. May 1, 2013; 110:0014-4835.

Functional characterization of an AQP0 missense mutation, R33C, that causes dominant congenital lens cataract, reveals impaired cell-to-cell adhesion., Kumari SS,Gandhi J,Mustehsan MH,Eren S,Varadaraj K, Exp Eye Res. November 1, 2013; 116:0014-4835.

The cataract and glucosuria associated monocarboxylate transporter MCT12 is a new creatine transporter., Abplanalp J,Laczko E,Philp NJ,Neidhardt J,Zuercher J,Braun P,Schorderet DF,Munier FL,Verrey F,Berger W,Camargo SM,Kloeckener-Gruissem B, Hum Mol Genet. August 15, 2013; 22(16):1460-2083.

Osmostress-induced apoptosis in Xenopus oocytes: role of stress protein kinases, calpains and Smac/DIABLO., Ben Messaoud N,Yue J,Valent D,Katzarova I,López JM, PLoS One. January 1, 2015; 10(4):1932-6203.

The UNC-45 myosin chaperone: from worms to flies to vertebrates., Lee CF,Lee CF,Lee CF,Melkani GC,Bernstein SI, Int Rev Cell Mol Biol. January 1, 2014; 313:1937-6448.

The cataract related mutation N188T in human connexin46 (hCx46) revealed a critical role for residue N188 in the docking process of gap junction channels., Schadzek P,Schlingmann B,Schaarschmidt F,Lindner J,Koval M,Heisterkamp A,Preller M,Ngezahayo A, Biochim Biophys Acta. January 1, 2016; 1858(1):0006-3002.

An Epha4/Sipa1l3/Wnt pathway regulates eye development and lens maturation., Rothe M,Kanwal N,Dietmann P,Seigfried FA,Hempel A,Schütz D,Reim D,Engels R,Linnemann A,Schmeisser MJ,Bockmann J,Kühl M,Boeckers TM,Kühl SJ, Development. January 15, 2017; 144(2):1477-9129.

Abnormal creatine transport of mutations in monocarboxylate transporter 12 (MCT12) found in patients with age-related cataract can be partially rescued by exogenous chaperone CD147., Stäubli A,Capatina N,Fuhrer Y,Munier FL,Labs S,Schorderet DF,Tiwari A,Verrey F,Heon E,Cheng CY,Wong TY,Berger W,Camargo SMR,Kloeckener-Gruissem B, Hum Mol Genet. November 1, 2017; 26(21):1460-2083.

A novel MIP mutation in a Chinese family with congenital cataract., Yuan C,Han T,Su P,Liu M,Zhou X,Zhou X,Zhang D,Jia W,Wang A,Yue M,Xiang Z,Chen L,Zhang X, Ophthalmic Genet. August 1, 2018; 39(4):1744-5094.

Modeling ocular lens disease in Xenopus., Viet J,Reboutier D,Hardy S,Lachke SA,Paillard L,Gautier-Courteille C, Dev Dyn. May 1, 2020; 249(5):1058-8388.

The Tudor-domain protein TDRD7, mutated in congenital cataract, controls the heat shock protein HSPB1 (HSP27) and lens fiber cell morphology., Barnum CE,Al Saai S,Patel SD,Cheng C,Anand D,Xu X,Dash S,Siddam AD,Glazewski L,Paglione E,Polson SW,Chuma S,Mason RW,Wei S,Batish M,Fowler VM,Lachke SA, Hum Mol Genet. July 29, 2020; 29(12):1460-2083.

Biallelic variants in COPB1 cause a novel, severe intellectual disability syndrome with cataracts and variable microcephaly., Macken WL,Godwin A,Wheway G,Stals K,Nazlamova L,Ellard S,Alfares A,Aloraini T,AlSubaie L,Alfadhel M,Alajaji S,Wai HA,Self J,Douglas AGL,Kao AP,Guille M,Baralle D, Genome Med. February 25, 2021; 13(1):1756-994X.

Molecular mechanisms underlying enhanced hemichannel function of a cataract-associated Cx50 mutant., Tong JJ,Khan U,Haddad BG,Minogue PJ,Beyer EC,Berthoud VM,Reichow SL,Ebihara L, Biophys J. December 21, 2021; 120(24):1542-0086.