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Genetics

D-Index
48
Citations
9427
World Ranking
4057
National Ranking
1748

Overview

Elena V. Semina is affiliated with the Medical College of Wisconsin in the United States. Their research work primarily focuses on the fields of Biochemistry, Genetics, and Molecular Biology, with a specialization in Molecular Biology and Genetics. Additional involvement includes Radiology, Nuclear Medicine and Imaging, as well as Immunology and Allergy.

The researcher's work covers a range of main topics, including:

  • Ocular Disorders and Treatments
  • Connexins and lens biology
  • Retinal Development and Disorders
  • Genetics and Neurodevelopmental Disorders
  • Epigenetics and DNA Methylation
  • Genomic variations and chromosomal abnormalities
  • Developmental Biology and Gene Regulation

Some of the recent papers involving Elena V. Semina provide insight into their contributions to ocular genetics and related syndromes. Recent publications include:

  • "Axenfeld-Rieger syndrome: more than meets the eye," 2022, Journal of Medical Genetics
  • "Congenital aniridia beyond black eyes: From phenotype and novel genetic mechanisms to innovative therapeutic approaches," 2022, Progress in Retinal and Eye Research
  • "SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile," 2022, Genetics in Medicine
  • "Dominant variants in PRR12 result in unilateral or bilateral complex microphthalmia," 2020, Clinical Genetics
  • "Disruption of foxc1 genes in zebrafish results in dosage-dependent phenotypes overlapping Axenfeld-Rieger syndrome," 2020, Human Molecular Genetics

Elena V. Semina frequently publishes in the following venues:

  • Genes
  • European Journal of Human Genetics
  • American Journal of Medical Genetics Part A
  • Progress in Retinal and Eye Research
  • Genetics in Medicine

Collaborative work features a range of frequent co-authors. Among them are:

  • Linda M. Reis
  • Samuel Thompson
  • Sarah E. Seese
  • Adele Schneider
  • Sanaa Muheisen

The scope of Elena V. Semina's research integrates genetic mechanisms underlying ocular disorders, neurodevelopmental conditions, and epigenetic modifications. Their contributions expand understanding in developmental biology and gene regulation through both clinical and molecular genetic approaches.

Best Publications

  • Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndrome

    E. V. Semina;R. Reiter;N. J. Leysens;W. L. M. Alward

  • Pitx2, a Bicoid-Type Homeobox Gene, Is Involved in a Lefty-Signaling Pathway in Determination of Left-Right Asymmetry

    Hidefumi Yoshioka;Chikara Meno;Kazuko Koshiba;Minoru Sugihara

  • Association of MSX1 and TGFB3 with nonsyndromic clefting in humans.

    Andrew C. Lidral;Paul A. Romitti;Ann M. Basart;Thomas Doetschman

  • A novel homeobox gene PITX3 is mutated in families with autosomal-dominant cataracts and ASMD

    Elena V. Semina;Robert E. Ferrell;Helen A. Mintz-Hittner;Pierre Bitoun

  • Selective loss of dopaminergic neurons in the substantia nigra of Pitx3-deficient aphakia mice

    Dong-Youn Hwang;Paul Ardayfio;Un Jung Kang;Elena V Semina

  • Isolation of a new homeobox gene belonging to the Pitx/Rieg family: expression during lens development and mapping to the aphakia region on mouse chromosome 19.

    Elena V. Semina;Rebecca S. Reiter;Jeffrey C. Murray

  • Deletion in the promoter region and altered expression of Pitx3 homeobox gene in aphakia mice

    Elena V. Semina;Jeffrey C. Murray;Rebecca Reiter;Ronald F. Hrstka

  • Antagonistic signals between BMP4 and FGF8 define the expression of Pitx1 and Pitx2 in mouse tooth-forming anlage.

    Tara R St.Amand;Yanding Zhang;Elena V Semina;Xiang Zhao

  • Mutations in the human forkhead transcription factor FOXE3 associated with anterior segment ocular dysgenesis and cataracts

    Elena V. Semina;Isaac Brownell;Helen A. Mintz-Hittner;Jeffrey C. Murray

  • Generation of embryonic stem cells and transgenic mice expressing green fluorescence protein in midbrain dopaminergic neurons

    Suling Zhao;Sarah Maxwell;Antonio Jimenez-Beristain;Joaquim Vives

  • Differential Regulation of Gene Expression by PITX2 Isoforms

    Carol J. Cox;Herbert M. Espinoza;Bryan McWilliams;Kimberly Chappell

  • Autosomal dominant iris hypoplasia is caused by a mutation in the Rieger syndrome (RIEG/PITX2) gene

    Wallace L.M. Alward;Elena V. Semina;Jeffrey W. Kalenak;Elise Héon

  • The Molecular Basis of Rieger Syndrome ANALYSIS OF PITX2 HOMEODOMAIN PROTEIN ACTIVITIES

    Brad A. Amendt;Lillian B. Sutherland;Elena V. Semina;Andrew F. Russo

  • Genetics of anterior segment dysgenesis disorders.

    Linda M. Reis;Elena V. Semina

  • The Pitx2 protein in mouse development.

    Tord A. Hjalt;Elena V. Semina;Brad A. Amendt;Jeffrey C. Murray

  • PITX2 and FOXC1 spectrum of mutations in ocular syndromes.

    Linda M Reis;Rebecca C Tyler;Bethany A Volkmann Kloss;Kala F Schilter

  • Rieger syndrome: a clinical, molecular, and biochemical analysis.

    B.A. Amendt;E.V. Semina;W.L.M. Alward

  • Mutation in the RIEG1 Gene in Patients with Iridogoniodysgenesis Syndrome

    Stephen C. Kulak;Kathy Kozlowski;Elena V. Semina;William G. Pearce

  • Novel SOX2 mutations and genotype–phenotype correlation in anophthalmia and microphthalmia

    Adele Schneider;Tanya Bardakjian;Linda M. Reis;Rebecca C. Tyler

  • BMP4 loss-of-function mutations in developmental eye disorders including SHORT syndrome

    Linda M. Reis;Linda M. Reis;Rebecca C. Tyler;Rebecca C. Tyler;Kala F. Schilter;Kala F. Schilter;Omar Abdul-Rahman

Frequent Co-Authors

Jeffrey C. Murray
Jeffrey C. Murray University of Iowa
Brad A. Amendt
Brad A. Amendt University of Iowa
Ulrich Broeckel
Ulrich Broeckel Medical College of Wisconsin
Andrew F. Russo
Andrew F. Russo University of Iowa
Michael A. Walter
Michael A. Walter University of Alberta
Ales Cvekl
Ales Cvekl Albert Einstein College of Medicine
John C. Carey
John C. Carey University of Utah
Sally A. Camper
Sally A. Camper University of Michigan–Ann Arbor
Robert E. Ferrell
Robert E. Ferrell University of Pittsburgh
Edwin M. Stone
Edwin M. Stone University of Iowa

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