cataract

Literature (12)

Literature for DOID 83: cataract

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

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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.
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.
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.
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.
Mono-allelic KCNB2 variants lead to a neurodevelopmental syndrome caused by altered channel inactivation., Bhat S,Rousseau J,Michaud C,Lourenço CM,Stoler JM,Louie RJ,Clarkson LK,Lichty A,Koboldt DC,Reshmi SC,Sisodiya SM,Hoytema van Konijnenburg EMM,Koop K,van Hasselt PM,Démurger F,Dubourg C,Sullivan BR,Hughes SS,Thiffault I,Tremblay ES,Accogli A,Srour M,Blunck R,Campeau PM, Am J Hum Genet. March 4, 2024; 111(4):1537-6605.

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.

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.

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.

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.

Mono-allelic KCNB2 variants lead to a neurodevelopmental syndrome caused by altered channel inactivation., Bhat S,Rousseau J,Michaud C,Lourenço CM,Stoler JM,Louie RJ,Clarkson LK,Lichty A,Koboldt DC,Reshmi SC,Sisodiya SM,Hoytema van Konijnenburg EMM,Koop K,van Hasselt PM,Démurger F,Dubourg C,Sullivan BR,Hughes SS,Thiffault I,Tremblay ES,Accogli A,Srour M,Blunck R,Campeau PM, Am J Hum Genet. March 4, 2024; 111(4):1537-6605.