Exome Sequencing and Epigenetic Analysis of Twins Who Are Discordant for Congenital Cataract

scientific article published on 05 June 2015

Exome Sequencing and Epigenetic Analysis of Twins Who Are Discordant for Congenital Cataract is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1017/THG.2015.34
P698PubMed publication ID26045100

P2093author name stringHui Sun
Jie Yang
Bo Hu
Ming Yan
Chen Qiao
Tanwei Wei
P2860cites workA Quantitative Measurement of the Human Somatic Mutation RateQ22065361
CHMP4B, a novel gene for autosomal dominant cataracts linked to chromosome 20qQ24337564
Epigenetic differences arise during the lifetime of monozygotic twinsQ24531005
A mosaic activating mutation in AKT1 associated with the Proteus syndromeQ24598593
Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromesQ24600400
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Posterior polar cataract: genetic analysis of a large familyQ28280532
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A novel MIP gene mutation analysis in a Chinese family affected with congenital progressive punctate cataractQ33916470
DNA methylation is associated with altered gene expression in AMD.Q33939754
SNP detection for massively parallel whole-genome resequencingQ34017409
Mutant DNA-binding domain of HSF4 is associated with autosomal dominant lamellar and Marner cataractQ34136058
DNA methylation profiles in monozygotic and dizygotic twins.Q34924376
Clinical and genetic heterogeneity in autosomal dominant cataractQ35310688
The mutation rate in PIG-A is normal in patients with paroxysmal nocturnal hemoglobinuria (PNH).Q35848946
Evaluation of different cytomegalovirus (CMV) DNA PCR protocols for analysis of dried blood spots from consecutive cases of neonates with congenital CMV infectionsQ36497909
The in vivo rate of somatic adenomatous polyposis coli mutationQ36512253
Phenotypically concordant and discordant monozygotic twins display different DNA copy-number-variation profilesQ36718902
A mutation in the start codon of γ-crystallin D leads to nuclear cataracts in the Dahl SS/Jr-Ctr strainQ36773914
Somatic gene mutation and human disease other than cancer: an updateQ37732916
Down-regulation and CpG island hypermethylation of CRYAA in age-related nuclear cataractQ39298160
Mutation rate at the hprt locus in human cancer cell lines with specific mismatch repair-gene defectsQ41140973
Comparison of spontaneous hprt mutation spectra at the nucleotide sequence level in the endogenous hprt gene and five other genomic positionsQ41206124
Identification of somatic APC mutations in recurrent desmoid tumors in a patient with familial adenomatous polyposis to determine actual recurrence of the original tumor or de novo occurrenceQ46428264
Monozygotic female twins discordant for Silver-Russell syndrome and hypomethylation of the H19-DMR.Q51688227
Timing of de novo mutagenesis--a twin study of sodium-channel mutations.Q51898937
Somatic mosaicism for chromosome X and Y aneuploidies in monozygotic twins heterozygous for sickle cell disease mutation.Q53304597
Attitudes towards and perceptions of visual loss and its causes among Hong Kong Chinese adultsQ80166692
Dichorionic triamniotic triplet pregnancy with monozygotic twins discordant for trisomy 13 after preimplantation genetic screening: case reportQ81056601
Signalling: SRC and survivalQ83213561
The cell and molecular biology of complex forms of glaucoma: updates on genetic, environmental, and epigenetic risk factorsQ84075690
P433issue4
P304page(s)393-398
P577publication date2015-06-05
P1433published inTwin Research and Human GeneticsQ7858271
P1476titleExome Sequencing and Epigenetic Analysis of Twins Who Are Discordant for Congenital Cataract
P478volume18

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cites work (P2860)
Q47138529Copy Number Variants and Exome Sequencing Analysis in Six Pairs of Chinese Monozygotic Twins Discordant for Congenital Heart Disease
Q38729492Exomic and Epigenomic Analyses in a Pair of Monozygotic Twins Discordant for Cryptorchidism
Q91677253Systematic review of differential methylation in rare ophthalmic diseases
Q40197489Whole-Exome Sequencing in Nine Monozygotic Discordant Twins

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