Partial correction of a severe molecular defect in hemophilia A, because of errors during expression of the factor VIII gene

Autor: Young, M., Inaba, H., Hoyer, L. W., Higuchi, M., Kazazian Jr, H. H., Stylianos Antonarakis

Publikováno v: American Journal of Human Genetics, Vol. 60, No 3 (1997) pp. 565-573
Scopus-Elsevier

Although the molecular defect in patients in a Japanese family with mild to moderately severe hemophilia A was a deletion of a single nucleotide T within an A8TA2 sequence of exon 14 of the factor VIII gene, the severity of the clinical phenotype did

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::fece624538de4d4af5ad997ea449be25
https://archive-ouverte.unige.ch/unige:9107

Multipoint mapping studies of the beta-globin, insulin, and c-Ha-ras-1 loci on 11p

Autor: Meyers, D. A., Beaty, T. H., Maestri, N. E., Stylianos Antonarakis, Kazazian Jr, H. H.

Publikováno v: Scopus-Elsevier

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::86d2e0dbc727f8763b2e6a520f1bbf2d
https://europepmc.org/articles/PMC1683982/

Unbalanced translocation, t(18;21), detected by fluorescence in situ hybridization (FISH) in a child with 18q - Syndrome and a ring chromosome 21

Autor: Mcginniss, M. J., carla rosenberg, Stetten, G., Schinzel, A. A., Binkert, F., Petersen, M. B., Kearns, W. G., Kazazian Jr, H. H., Pearson, P. L., Antonarakis, S. E.

Publikováno v: Scopus-Elsevier

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::6869f62136a8903374077809c3a7631f
http://www.scopus.com/inward/record.url?eid=2-s2.0-0027184853&partnerID=MN8TOARS

From the genome's perspective: Bearing somatic retrotransposition to leverage the regulatory potential of L1 RNAs.

Autor: Mangoni D; Center for Human Technologies, Non-Coding RNAs and RNA-Based Therapeutics, Istituto Italiano di Tecnologia (IIT), Genova, Italy., Mazzetti A; Area of Neuroscience, International School for Advanced Studies (SISSA), Trieste, Italy., Ansaloni F; Center for Human Technologies, Non-Coding RNAs and RNA-Based Therapeutics, Istituto Italiano di Tecnologia (IIT), Genova, Italy., Simi A; Center for Human Technologies, Non-Coding RNAs and RNA-Based Therapeutics, Istituto Italiano di Tecnologia (IIT), Genova, Italy., Tartaglia GG; Center for Human Technologies, RNA Systems Biology, Istituto Italiano di Tecnologia (IIT), Genova, Italy., Pandolfini L; Center for Human Technologies, Non-Coding RNAs and RNA-Based Therapeutics, Istituto Italiano di Tecnologia (IIT), Genova, Italy., Gustincich S; Center for Human Technologies, Non-Coding RNAs and RNA-Based Therapeutics, Istituto Italiano di Tecnologia (IIT), Genova, Italy., Sanges R; Center for Human Technologies, Non-Coding RNAs and RNA-Based Therapeutics, Istituto Italiano di Tecnologia (IIT), Genova, Italy.; Area of Neuroscience, International School for Advanced Studies (SISSA), Trieste, Italy.

Publikováno v: BioEssays : news and reviews in molecular, cellular and developmental biology [Bioessays] 2024 Nov 09, pp. e2400125. Date of Electronic Publication: 2024 Nov 09.

Rethinking convergence in plant parasitism through the lens of molecular and population genetic processes.

Autor: Cai, Liming

Publikováno v: American Journal of Botany; May2023, Vol. 110 Issue 5, p1-12, 12p