Literature DB >> 24555746

Linkage Analysis of High-density SNPs Confirms Keratoconus Locus at 5q Chromosomal Region.

Yelena Bykhovskaya1,2, Xiaohui Li1,3, Kent D Taylor3, Talin Haritunians4, Jerome I Rotter3, Yaron S Rabinowitz1,2.   

Abstract

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Year:  2014        PMID： 24555746      PMCID： PMC4139481          DOI： 10.3109/13816810.2014.889172

Source DB:  PubMed          Journal:  Ophthalmic Genet        ISSN： 1381-6810            Impact factor:   1.803


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  8 in total

1.  Merlin--rapid analysis of dense genetic maps using sparse gene flow trees.

Authors:  Gonçalo R Abecasis; Stacey S Cherny; William O Cookson; Lon R Cardon
Journal:  Nat Genet       Date:  2001-12-03       Impact factor: 38.330

2.  Molecular genetic analysis in autosomal dominant keratoconus.

Authors:  Y S Rabinowitz; I H Maumenee; M K Lundergan; E Puffenberger; D Zhu; S Antonarakis; C A Francomano
Journal:  Cornea       Date:  1992-07       Impact factor: 2.651

3.  Genomewide linkage scan in a multigeneration Caucasian pedigree identifies a novel locus for keratoconus on chromosome 5q14.3-q21.1.

Authors:  Yongming G Tang; Yaron S Rabinowitz; Kent D Taylor; Xiaohui Li; Mingshu Hu; Yoana Picornell; Huiying Yang
Journal:  Genet Med       Date:  2005 Jul-Aug       Impact factor: 8.822

4.  Two-stage genome-wide linkage scan in keratoconus sib pair families.

Authors:  Xiaohui Li; Yaron S Rabinowitz; Yongming G Tang; Yoana Picornell; Kent D Taylor; Mingshu Hu; Huiying Yang
Journal:  Invest Ophthalmol Vis Sci       Date:  2006-09       Impact factor: 4.799

5.  Linkage analysis in keratoconus: replication of locus 5q21.2 and identification of other suggestive Loci.

Authors:  Luigi Bisceglia; Patrizia De Bonis; Costantina Pizzicoli; Lucia Fischetti; Antonio Laborante; Michele Di Perna; Francesco Giuliani; Nicola Delle Noci; Luca Buzzonetti; Leopoldo Zelante
Journal:  Invest Ophthalmol Vis Sci       Date:  2008-10-31       Impact factor: 4.799

6.  GWAF: an R package for genome-wide association analyses with family data.

Authors:  Ming-Huei Chen; Qiong Yang
Journal:  Bioinformatics       Date:  2009-12-29       Impact factor: 6.937

7.  Gene expression profile studies of human keratoconus cornea for NEIBank: a novel cornea-expressed gene and the absence of transcripts for aquaporin 5.

Authors:  Yaron S Rabinowitz; Lijin Dong; Graeme Wistow
Journal:  Invest Ophthalmol Vis Sci       Date:  2005-04       Impact factor: 4.799

8.  An association between the calpastatin (CAST) gene and keratoconus.

Authors:  Xiaohui Li; Yelena Bykhovskaya; Yongming G Tang; Yoana Picornell; Talin Haritunians; Anthony J Aldave; Loretta Szczotka-Flynn; Sudha K Iyengar; Jerome I Rotter; Kent D Taylor; Yaron S Rabinowitz
Journal:  Cornea       Date:  2013-05       Impact factor: 2.651
  8 in total
  9 in total

1.  Further evaluation of differential expression of keratoconus candidate genes in human corneas.

Authors:  Justyna A Karolak; Barbara Ginter-Matuszewska; Katarzyna Tomela; Michal Kabza; Dorota M Nowak-Malczewska; Malgorzata Rydzanicz; Piotr Polakowski; Jacek P Szaflik; Marzena Gajecka
Journal:  PeerJ       Date:  2020-08-20       Impact factor: 2.984

Review 2.  Corneal Cross-Linking for Pediatric Keratcoconus Review.

Authors:  Claudia Perez-Straziota; Ronald N Gaster; Yaron S Rabinowitz
Journal:  Cornea       Date:  2018-06       Impact factor: 2.651

Review 3.  The genetic and environmental factors for keratoconus.

Authors:  Ariela Gordon-Shaag; Michel Millodot; Einat Shneor; Yutao Liu
Journal:  Biomed Res Int       Date:  2015-05-17       Impact factor: 3.411

Review 4.  Genetics in Keratoconus: where are we?

Authors:  Yelena Bykhovskaya; Benjamin Margines; Yaron S Rabinowitz
Journal:  Eye Vis (Lond)       Date:  2016-06-27

Review 5.  Genomic strategies to understand causes of keratoconus.

Authors:  Justyna A Karolak; Marzena Gajecka
Journal:  Mol Genet Genomics       Date:  2016-12-28       Impact factor: 3.291

6.  TSC1 Mutations in Keratoconus Patients With or Without Tuberous Sclerosis.

Authors:  Yelena Bykhovskaya; Majid Fardaei; Mariam Lotfy Khaled; Mahmood Nejabat; Ramin Salouti; Hassan Dastsooz; Yutao Liu; Soroor Inaloo; Yaron S Rabinowitz
Journal:  Invest Ophthalmol Vis Sci       Date:  2017-12-01       Impact factor: 4.799

7.  Genetics in Keratoconus - What is New?

Authors:  Sarah Moussa; Günther Grabner; Josef Ruckhofer; Marie Dietrich; Herbert Reitsamer
Journal:  Open Ophthalmol J       Date:  2017-07-31

8.  Accumulation of sequence variants in genes of Wnt signaling and focal adhesion pathways in human corneas further explains their involvement in keratoconus.

Authors:  Justyna A Karolak; Tomasz Gambin; Malgorzata Rydzanicz; Piotr Polakowski; Rafal Ploski; Jacek P Szaflik; Marzena Gajecka
Journal:  PeerJ       Date:  2020-04-14       Impact factor: 2.984

9.  PPIP5K2 and PCSK1 are Candidate Genetic Contributors to Familial Keratoconus.

Authors:  Mariam Lofty Khaled; Yelena Bykhovskaya; Chunfang Gu; Alice Liu; Michelle D Drewry; Zhong Chen; Barbara A Mysona; Emily Parker; Ryan P McNabb; Hongfang Yu; Xiaowen Lu; Jing Wang; Xiaohui Li; Abdulrahman Al-Muammar; Jerome I Rotter; Louise F Porter; Amy Estes; Mitchell A Watsky; Sylvia B Smith; Hongyan Xu; Khaled K Abu-Amero; Anthony Kuo; Stephen B Shears; Yaron S Rabinowitz; Yutao Liu
Journal:  Sci Rep       Date:  2019-12-18       Impact factor: 4.379
  9 in total

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