Elena V. Semina
Medical College of Wisconsin
GeneExomeEnhancerEye developmentCompound heterozygosityHomeoboxPhenotypePathologyMutantTranscriptomeExome sequencingAlleleGene expression profilingProbandDNA methylationPenetranceWild typeRegulatory sequenceCorneal endotheliumColobomaPeters-plus syndromeAniridiaBuphthalmosZebrafishCorneaAnophthalmiaShort statureMicrophthalmiaCorneal dystrophyDysgenesisLoxaCerebellar vermisHypoplasiaAgenesis of the corpus callosumHoloprosencephalyCorpus Callosum AgenesisColobomatous microphthalmiaGene Knockout TechniquesMutationGeneticsIntellectual disabilityMedicineMissense mutationGene knockoutBiologyCoding regionCell biology
7Publications
2H-index
14Citations
Publications 7
Newest
#1Sarah E. Seese (MCW: Medical College of Wisconsin)
#2Linda M. Reis (MCW: Medical College of Wisconsin)H-Index: 21
Last. Elena V. Semina (MCW: Medical College of Wisconsin)H-Index: 2
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Microphthalmia, coloboma, and aniridia are congenital ocular phenotypes with a strong genetic component but often unknown cause. We present a likely causative novel variant in MAB21L1, c.152G>T p.(Arg51Leu), in two family members with microphthalmia and aniridia, as well as novel or rare compound heterozygous variants of uncertain significance, c.184C>T p.(Arg62Cys)/c.-68T>C, and c.658G>C p.(Gly220Arg)/c.*529A>G, in two additional probands with microphthalmia, coloboma and/or cataracts. All vari...
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#8Elena V. Semina (MCW: Medical College of Wisconsin)H-Index: 2
Complex microphthalmia is characterized by small eyes with additional abnormalities that may include anterior segment dysgenesis. While many genes are known, a genetic cause is identified in only 4-30% of microphthalmia, with the lowest rate in unilateral cases. We identified four novel pathogenic loss-of-function alleles in PRR12 in families affected by complex microphthalmia and/or Peters anomaly, including two de novo, the first dominantly transmitted allele, as well as the first splicing var...
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#1Sarah E. Seese (MCW: Medical College of Wisconsin)
#2Brett Deml (MCW: Medical College of Wisconsin)H-Index: 4
Last. Elena V. SeminaH-Index: 2
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BACKGROUND The male-abnormal 21 like (MAB21L) genes are important in human ocular development. Homozygous loss of MAB21L1 leads to corneal dystrophy in all affected individuals along with cataracts and buphthalmos in some. The molecular function and downstream pathways of MAB21L factors are largely undefined. RESULTS We generated the first mab21l1 zebrafish mutant carrying a putative loss-of-function allele, c.107delA p.(Lys36Argfs*7). At the final stages of embryonic development, homozygous mab...
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#1Linda M. Reis (MCW: Medical College of Wisconsin)H-Index: 21
#2Donald Basel (MCW: Medical College of Wisconsin)H-Index: 17
Last. Elena V. Semina (MCW: Medical College of Wisconsin)H-Index: 2
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PURPOSE Ocular coloboma is caused by failure of optic fissure closure during development and recognized as part of the microphthalmia, anophthalmia, and coloboma (MAC) spectrum. While many genes are known to cause colobomatous microphthalmia, relatively few have been reported in coloboma with normal eye size. METHODS Genetic analysis including trio exome sequencing and Sanger sequencing was undertaken in a family with two siblings affected with bilateral coloboma of the iris, retina, and choroid...
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#1Linda M. Reis (MCW: Medical College of Wisconsin)H-Index: 21
#2Nathalie S. Houssin (OSU: Ohio State University)H-Index: 2
Last. Elena V. Semina (Children's Hospital of Wisconsin)H-Index: 2
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Peters anomaly (PA) is a congenital corneal opacity associated with corneo-lenticular attachments. PA can be isolated or part of a syndrome with most cases remaining genetically unsolved. Exome sequencing of a trio with syndromic PA and 145 additional unexplained probands with developmental ocular conditions identified a de novo splicing and three novel missense heterozygous CDH2 variants affecting the extracellular cadherin domains in four individuals with PA. Syndromic anomalies were seen in t...
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#1Eric Weh (UM: University of Michigan)H-Index: 7
#2Elena A. Sorokina (MCW: Medical College of Wisconsin)H-Index: 4
Last. Elena V. Semina (MCW: Medical College of Wisconsin)H-Index: 2
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Development of the anterior segment of the vertebrate eye is a highly coordinated process. Genetic mutations in factors guiding this process result in Anterior Segment Dysgenesis (ASD), a spectrum of disorders affecting the iris, cornea, trabecular meshwork and/or other iridocorneal angle structures and associated with glaucoma. One of the first factors linked to ASD in humans was PITX2, a homeodomain containing transcription factor with a role in Axenfeld-Rieger syndrome (ARS). In addition to p...
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#1Eric Weh (MCW: Medical College of Wisconsin)H-Index: 7
#2Hideyuki Takeuchi (UGA: University of Georgia)H-Index: 33
Last. Elena V. Semina (MCW: Medical College of Wisconsin)H-Index: 2
view all 5 authors...
Peters Plus Syndrome (PPS) is a rare autosomal recessive disease characterized by ocular defects, short stature, brachydactyly, characteristic facial features, developmental delay and other highly variable systemic defects. Classic PPS is caused by loss-of-function mutations in the B3GLCT gene encoding for a β3-glucosyltransferase that catalyzes the attachment of glucose via a β1–3 glycosidic linkage to O-linked fucose on thrombospondin type 1 repeats (TSRs). B3GLCT was shown to participate in a...
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