Cataracts and Chromosome 1

Results: 54

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1.
[The senescence-accelerated oxys rats–a genetic model of premature aging and age-dependent degenerative diseases].
[No authors listed]
Adv Gerontol. 2014;27(2):336-40. Russian.
PMID:

 

25306668

 

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2.
Quantitative trait loci on chromosome 1 for cataract and AMD-like retinopathy in senescence-accelerated OXYS rats.
Korbolina EE, Kozhevnikova OS, Stefanova NA, Kolosova NG.
Aging (Albany NY). 2012 Jan;4(1):49-59.
PMID:

 

22300709

 

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3.
The cell adhesion gene PVRL3 is associated with congenital ocular defects.
Lachke SA, Higgins AW, Inagaki M, Saadi I, Xi Q, Long M, Quade BJ, Talkowski ME, Gusella JF, Fujimoto A, Robinson ML, Yang Y, Duong QT, Shapira I, Motro B, Miyoshi J, Takai Y, Morton CC, Maas RL.
Hum Genet. 2012 Feb;131(2):235-50. doi: 10.1007/s00439-011-1064-z. Epub 2011 Jul 17.
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21769484

 

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4.
Evidence for a novel autosomal dominant retinitis pigmentosa linked to chromosome 1p22.1-q12 in a Chinese family.
Yuan Y, Zhou X, Wang F, Yan M, Ding F.
Curr Eye Res. 2011 Feb;36(2):154-67. doi: 10.3109/02713683.2010.511393.
PMID:

 

21281067

 

[PubMed – indexed for MEDLINE]
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5.
First mutation in the βA2-crystallin encoding gene is associated with small lenses and age-related cataracts.
Puk O, Ahmad N, Wagner S, Hrabé de Angelis M, Graw J.
Invest Ophthalmol Vis Sci. 2011 Apr 20;52(5):2571-6. doi: 10.1167/iovs.10-6443.
PMID:

 

21212184

 

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6.
Genetic linkage analyses and Cx50 mutation detection in a large multiplex Chinese family with hereditary nuclear cataract.
He W, Li X, Chen J, Xu L, Zhang F, Dai Q, Cui H, Wang DM, Yu J, Hu S, Lu S.
Ophthalmic Genet. 2011 Mar;32(1):48-53. doi: 10.3109/13816810.2010.535886. Epub 2010 Dec 21.
PMID:

 

21174522

 

[PubMed – indexed for MEDLINE]
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7.
A novel syndrome of paediatric cataract, dysmorphism, ectodermal features, and developmental delay in Australian Aboriginal family maps to 1p35.3-p36.32.
Hattersley K, Laurie KJ, Liebelt JE, Gecz J, Durkin SR, Craig JE, Burdon KP.
BMC Med Genet. 2010 Nov 19;11:165. doi: 10.1186/1471-2350-11-165.
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21092079

 

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8.
A novel ADAMTSL4 mutation in autosomal recessive ectopia lentis et pupillae.
Christensen AE, Fiskerstrand T, Knappskog PM, Boman H, Rødahl E.
Invest Ophthalmol Vis Sci. 2010 Dec;51(12):6369-73. doi: 10.1167/iovs.10-5597. Epub 2010 Aug 11.
PMID:

 

20702823

 

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9.
A 1-bp deletion in the gammaC-crystallin leads to dominant cataracts in mice.
Zhao L, Li K, Bao S, Zhou Y, Liang Y, Zhao G, Chen Y, Xiao J.
Mamm Genome. 2010 Aug;21(7-8):361-9. doi: 10.1007/s00335-010-9275-5. Epub 2010 Aug 5.
PMID:

 

20686773

 

[PubMed – indexed for MEDLINE]
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10.
Autosomal recessive congenital cataract linked to EPHA2 in a consanguineous Pakistani family.
Kaul H, Riazuddin SA, Shahid M, Kousar S, Butt NH, Zafar AU, Khan SN, Husnain T, Akram J, Hejtmancik JF, Riazuddin S.
Mol Vis. 2010 Mar 24;16:511-7.
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20361013

 

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11.
EPHA2 is associated with age-related cortical cataract in mice and humans.
Jun G, Guo H, Klein BE, Klein R, Wang JJ, Mitchell P, Miao H, Lee KE, Joshi T, Buck M, Chugha P, Bardenstein D, Klein AP, Bailey-Wilson JE, Gong X, Spector TD, Andrew T, Hammond CJ, Elston RC, Iyengar SK, Wang B.
PLoS Genet. 2009 Jul;5(7):e1000584. doi: 10.1371/journal.pgen.1000584. Epub 2009 Jul 31.
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19649315

 

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12.
Mutations of the EPHA2 receptor tyrosine kinase gene cause autosomal dominant congenitalcataract.
Zhang T, Hua R, Xiao W, Burdon KP, Bhattacharya SS, Craig JE, Shang D, Zhao X, Mackey DA, Moore AT, Luo Y, Zhang J, Zhang X.
Hum Mutat. 2009 May;30(5):E603-11. doi: 10.1002/humu.20995.
PMID:

 

19306328

 

[PubMed – indexed for MEDLINE]
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13.
A homozygous mutation in ADAMTSL4 causes autosomal-recessive isolated ectopia lentis.
Ahram D, Sato TS, Kohilan A, Tayeh M, Chen S, Leal S, Al-Salem M, El-Shanti H.
Am J Hum Genet. 2009 Feb;84(2):274-8. doi: 10.1016/j.ajhg.2009.01.007. Epub 2009 Feb 5.
PMID:

 

19200529

 

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14.
The EPHA2 gene is associated with cataracts linked to chromosome 1p.
Shiels A, Bennett TM, Knopf HL, Maraini G, Li A, Jiao X, Hejtmancik JF.
Mol Vis. 2008;14:2042-55. Epub 2008 Nov 12.
PMID:

 

19005574

 

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15.
Cytogenetic and array CGH characterization of de novo 1p36 duplications and deletion in a patient with congenital cataracts, hearing loss, choanal atresia, and mental retardation.
Chen E, Obolensky E, Rauen KA, Shaffer LG, Li X.
Am J Med Genet A. 2008 Nov 1;146A(21):2785-90. doi: 10.1002/ajmg.a.32437.
PMID:

 

18924166

 

[PubMed – indexed for MEDLINE]
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16.
Investigation of eight candidate genes on chromosome 1p36 for autosomal dominant total congenital cataract.
Burdon KP, Hattersley K, Lachke SA, Laurie KJ, Maas RL, Mackey DA, Craig JE.
Mol Vis. 2008;14:1799-804. Epub 2008 Sep 30.
PMID:

 

18843385

 

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17.
Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes.
Mefford HC, Sharp AJ, Baker C, Itsara A, Jiang Z, Buysse K, Huang S, Maloney VK, Crolla JA, Baralle D, Collins A, Mercer C, Norga K, de Ravel T, Devriendt K, Bongers EM, de Leeuw N, Reardon W, Gimelli S, Bena F, Hennekam RC, Male A, Gaunt L, Clayton-Smith J, Simonic I, Park SM, Mehta SG, Nik-Zainal S, Woods CG, Firth HV, Parkin G, Fichera M, Reitano S, Lo Giudice M, Li KE, Casuga I, Broomer A, Conrad B, Schwerzmann M, Räber L, Gallati S, Striano P, Coppola A, Tolmie JL, Tobias ES, Lilley C, Armengol L, Spysschaert Y, Verloo P, De Coene A, Goossens L, Mortier G, Speleman F, van Binsbergen E, Nelen MR, Hochstenbach R, Poot M, Gallagher L, Gill M, McClellan J, King MC, Regan R, Skinner C, Stevenson RE, Antonarakis SE, Chen C, Estivill X, Menten B, Gimelli G, Gribble S, Schwartz S, Sutcliffe JS, Walsh T, Knight SJ, Sebat J, Romano C, Schwartz CE, Veltman JA, de Vries BB, Vermeesch JR, Barber JC, Willatt L, Tassabehji M, Eichler EE.
N Engl J Med. 2008 Oct 16;359(16):1685-99. doi: 10.1056/NEJMoa0805384. Epub 2008 Sep 10.
PMID:

 

18784092

 

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18.
A novel mutation in CRYBB2 responsible for inherited coronary cataract.
Lou D, Tong JP, Zhang LY, Chiang SW, Lam DS, Pang CP.
Eye (Lond). 2009 May;23(5):1213-20. doi: 10.1038/eye.2008.222. Epub 2008 Jul 11.
PMID:

 

18617901

 

[PubMed – indexed for MEDLINE]
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19.
Association study of candidate genes for primary cataracts and fine-mapping of a candidate region on dog chromosome 1 in Entlebucher mountain dogs.
Müller C, Distl O.
Mol Vis. 2008 May 16;14:883-8.
PMID:

 

18490961

 

[PubMed – indexed for MEDLINE] 

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20.
Localization of autosomal recessive congenital cataracts in consanguineous Pakistani families to a new locus on chromosome 1p.
Butt T, Yao W, Kaul H, Xiaodong J, Gradstein L, Zhang Y, Husnain T, Riazuddin S, Hejtmancik JF, Riazuddin SA.
Mol Vis. 2007 Sep 10;13:1635-40.
PMID:

 

17893665

 

[PubMed – indexed for MEDLINE] 

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21.
A new locus for inherited nuclear cataract mapped to the long arm of chromosome 1.
Wang L, Lin H, Shen Y, Huang S, Gu J, Su H, Qi Y.
Mol Vis. 2007 Aug 1;13:1357-62.
PMID:

 

17768382

 

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22.
Endogenous retroviral insertion in Cryge in the mouse No3 cataract mutant.
Nag N, Peterson K, Wyatt K, Hess S, Ray S, Favor J, Bogani D, Lyon M, Wistow G.
Genomics. 2007 Apr;89(4):512-20. Epub 2007 Jan 12.
PMID:

 

17223009

 

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23.
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. 2006 Jan;43(1):e2.
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16397066

 

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24.
The telomere of human chromosome 1p contains at least two independent autosomal dominant congenital cataract genes.
McKay JD, Patterson B, Craig JE, Russell-Eggitt IM, Wirth MG, Burdon KP, Hewitt AW, Cohn AC, Kerdraon Y, Mackey DA.
Br J Ophthalmol. 2005 Jul;89(7):831-4.
PMID:

 

15965161

 

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25.
[A heterozygous transversion of connexin 50 in a family with congenital nuclear cataract in the northeast of China].
Zheng JQ, Ma ZW, Sun HM.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2005 Feb;22(1):76-8. Chinese.
PMID:

 

15696487

 

[PubMed – indexed for MEDLINE]
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26.
[Genetics of hereditary iron overload].
Le Gall JY, Jouanolle AM, Fergelot P, Mosser J, David V.
Bull Acad Natl Med. 2004;188(2):247-62; discussion 262-3. Review. French.
PMID:

 

15506716

 

[PubMed – indexed for MEDLINE]
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27.
Quantitative trait locus mapping for age-related cataract severity and synechia prevalence using four-way cross mice.
Wolf N, Galecki A, Lipman R, Chen S, Smith-Wheelock M, Burke D, Miller R.
Invest Ophthalmol Vis Sci. 2004 Jun;45(6):1922-9.
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15161859

 

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28.
Genetic, ophthalmic, morphometric and histopathological analysis of the Retinopathy Globe Enlarged (rge) chicken.
Inglehearn CF, Morrice DR, Lester DH, Robertson GW, Mohamed MD, Simmons I, Downey LM, Thaung C, Bridges LR, Paton IR, Smith J, Petersen-Jones S, Hocking PM, Burt DW.
Mol Vis. 2003 Jul 1;9:295-300.
PMID:

 

12847422

 

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29.
Molecular characterization of a familial translocation implicates disruption of HDAC9 and possible position effect on TGFbeta2 in the pathogenesis of Peters’ anomaly.
David D, Cardoso J, Marques B, Marques R, Silva ED, Santos H, Boavida MG.
Genomics. 2003 May;81(5):489-503.
PMID:

 

12706107

 

[PubMed – indexed for MEDLINE]
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30.
V76D mutation in a conserved gD-crystallin region leads to dominant cataracts in mice.
Graw J, Löster J, Soewarto D, Fuchs H, Reis A, Wolf E, Balling R, Hrabé de Angelis M.
Mamm Genome. 2002 Aug;13(8):452-5.
PMID:

 

12226711

 

[PubMed – indexed for MEDLINE]
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31.
Crygf(Rop): the first mutation in the Crygf gene causing a unique radial lens opacity.
Graw J, Klopp N, Neuhäuser-Klaus A, Favor J, Löster J.
Invest Ophthalmol Vis Sci. 2002 Sep;43(9):2998-3002.
PMID:

 

12202521

 

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32.
Ethylnitrosourea-induced base pair substitution affects splicing of the mouse gammaE-crystallin encoding gene leading to the expression of a hybrid protein and to a cataract.
Graw J, Neuhäuser-Klaus A, Löster J, Klopp N, Favor J.
Genetics. 2002 Aug;161(4):1633-40.
PMID:

 

12196406

 

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33.
[Ocular defects associated with a duplication of the distal part of the long arm of chromosome 1: a case report].
Le Goff L, Hadjadj E, Denis D.
J Fr Ophtalmol. 2002 Apr;25(4):388-92. Review. French.
PMID:

 

12011743

 

[PubMed – indexed for MEDLINE] 

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34.
A 6-bp deletion in the Crygc gene leading to a nuclear and radial cataract in the mouse.
Graw J, Neuhäuser-Klaus A, Löster J, Favor J.
Invest Ophthalmol Vis Sci. 2002 Jan;43(1):236-40.
PMID:

 

11773036

 

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35.
FISH characterization of a supernumerary r(1)(::cen–>q22::q22–>sq21::) chromosome associated with multiple anomalies and bilateral cataracts.
Finelli P, Cavalli P, Giardino D, Gottardi G, Natacci F, Savasta S, Larizza L.
Am J Med Genet. 2001 Nov 22;104(2):157-64.
PMID:

 

11746048

 

[PubMed – indexed for MEDLINE]
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36.
Functional analysis of the promoter and chromosomal localization for human LEP503, a novel lens epithelium gene.
Wen Y, Ibaraki N, Reddy VN, Sachs G.
Gene. 2001 May 16;269(1-2):61-71.
PMID:

 

11376938

 

[PubMed – indexed for MEDLINE]
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37.
Retinal detachment and cataract, facial dysmorphism, generalized osteoporosis, immobile spine and platyspondyly in a consanguinous kindred–a possible new syndrome.
Schmidt H, Rudolph G, Hergersberg M, Schneider K, Moradi S, Meitinger T.
Clin Genet. 2001 Feb;59(2):99-105.
PMID:

 

11260210

 

[PubMed – indexed for MEDLINE]
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38.
Ethylnitrosourea-induced mutation in mice leads to the expression of a novel protein in the eye and to dominant cataracts.
Graw J, Klopp N, Löster J, Soewarto D, Fuchs H, Becker-Follmann J, Reis A, Wolf E, Balling R, Habré de Angelis M.
Genetics. 2001 Mar;157(3):1313-20.
PMID:

 

11238416

 

[PubMed – indexed for MEDLINE] 

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39.
Lop12, a mutation in mouse Crygd causing lens opacity similar to human Coppock cataract.
Smith RS, Hawes NL, Chang B, Roderick TH, Akeson EC, Heckenlively JR, Gong X, Wang X, Davisson MT.
Genomics. 2000 Feb 1;63(3):314-20.
PMID:

 

10704279

 

[PubMed – indexed for MEDLINE]
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40.
Three murine cataract mutants (Cat2) are defective in different gamma-crystallin genes.
Klopp N, Favor J, Löster J, Lutz RB, Neuhäuser-Klaus A, Prescott A, Pretsch W, Quinlan RA, Sandilands A, Vrensen GF, Graw J.
Genomics. 1998 Sep 1;52(2):152-8.
PMID:

 

9782080

 

[PubMed – indexed for MEDLINE]
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41.
A missense mutation in the human connexin50 gene (GJA8) underlies autosomal dominant “zonular pulverulent” cataract, on chromosome 1q.
Shiels A, Mackay D, Ionides A, Berry V, Moore A, Bhattacharya S.
Am J Hum Genet. 1998 Mar;62(3):526-32.
PMID:

 

9497259

 

[PubMed – indexed for MEDLINE] 

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42.
Regional mapping of the human MP70 (Cx50; connexin 50) gene by fluorescence in situ hybridization to 1q21.1.
Geyer DD, Church RL, Steele EC Jr, Heinzmann C, Kojis TL, Klisak I, Sparkes RS, Bateman JB.
Mol Vis. 1997 Dec 17;3:13.
PMID:

 

9479004

 

[PubMed – indexed for MEDLINE] 

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43.
A locus for autosomal dominant posterior polar cataract on chromosome 1p.
Ionides AC, Berry V, Mackay DS, Moore AT, Bhattacharya SS, Shiels A.
Hum Mol Genet. 1997 Jan;6(1):47-51.
PMID:

 

9002669

 

[PubMed – indexed for MEDLINE] 

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44.
Genetic recombination at the human RH locus: a family study of the red-cell Evans phenotype reveals a transfer of exons 2-6 from the RHD to the RHCE gene.
Huang CH, Chen Y, Reid M, Ghosh S.
Am J Hum Genet. 1996 Oct;59(4):825-33.
PMID:

 

8808597

 

[PubMed – indexed for MEDLINE] 

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45.
Autosomal dominant zonular cataract with sutural opacities in a four-generation family.
Basti S, Hejtmancik JF, Padma T, Ayyagari R, Kaiser-Kupfer MI, Murty JS, Rao GN.
Am J Ophthalmol. 1996 Feb;121(2):162-8.
PMID:

 

8623885

 

[PubMed – indexed for MEDLINE]
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46.
Reduced levels of gamma-crystallin transcripts during embryonic development of murine Cat2nop mutant lenses.
Santhiya ST, Abd-alla SM, Löster J, Graw J.
Graefes Arch Clin Exp Ophthalmol. 1995 Dec;233(12):795-800.
PMID:

 

8626090

 

[PubMed – indexed for MEDLINE]
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47.
Identification of the human beta A2 crystallin gene (CRYBA2): localization of the gene on human chromosome 2 and of the homologous gene on mouse chromosome 1.
Hulsebos TJ, Cerosaletti KM, Fournier RE, Sinke RJ, Rocchi M, Marzella R, Jenkins NA, Gilbert DJ, Copeland NG.
Genomics. 1995 Aug 10;28(3):543-8.
PMID:

 

7490092

 

[PubMed – indexed for MEDLINE]
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48.
Assignment of congenital cataract Volkmann type (CCV) to chromosome 1p36.
Eiberg H, Lund AM, Warburg M, Rosenberg T.
Hum Genet. 1995 Jul;96(1):33-8.
PMID:

 

7607651

 

[PubMed – indexed for MEDLINE]
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49.
Assignment of the zeta-crystallin gene (CRYZ) to human chromosome 1p22-p31 and identification of restriction fragment length polymorphisms.
Heinzmann C, Kojis TL, Gonzalez P, Rao PV, Zigler JS Jr, Polymeropoulos MH, Klisak I, Sparkes RS, Mohandas T, Bateman JB.
Genomics. 1994 Sep 15;23(2):403-7.
PMID:

 

7835889

 

[PubMed – indexed for MEDLINE]
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50.
Close linkage of the dominant cataract mutations (Cat-2) with Idh-1 and cryge on mousechromosome 1.
Löster J, Pretsch W, Sandulache R, Schmitt-John T, Lyon MF, Graw J.
Genomics. 1994 Sep 1;23(1):240-2.
PMID:

 

7829079

 

[PubMed – indexed for MEDLINE]
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51.
Mapping of six dominant cataract genes in the mouse.
Everett CA, Glenister PH, Taylor DM, Lyon MF, Kratochvilova-Loester J, Favor J.
Genomics. 1994 Apr;20(3):429-34.
PMID:

 

8034315

 

[PubMed – indexed for MEDLINE]
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52.
Congenital ocular defects associated with an abnormality of the human chromosome 1: trisomy 1q32-qter.
Clark BJ, Lowther GW, Lee WR.
J Pediatr Ophthalmol Strabismus. 1994 Jan-Feb;31(1):41-5.
PMID:

 

8195962

 

[PubMed – indexed for MEDLINE]
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53.
Autosomal dominant congenital cataract. Morphology and genetic mapping.
Marner E, Rosenberg T, Eiberg H.
Acta Ophthalmol (Copenh). 1989 Apr;67(2):151-8.
PMID:

 

2728866

 

[PubMed – indexed for MEDLINE]
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54.
Genetic linkage analysis of autosomal dominant congenital cataracts.
Bateman JB, Spence MA, Marazita ML, Sparkes RS.
Am J Ophthalmol. 1986 Feb 15;101(2):218-25.
PMID:

 

3456204

 

[PubMed – indexed for MEDLINE]
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