C
Carmela Migliaccio
Researcher at International Institute of Minnesota
Publications - 6
Citations - 629
Carmela Migliaccio is an academic researcher from International Institute of Minnesota. The author has contributed to research in topics: Gene & Expressed sequence tag. The author has an hindex of 5, co-authored 6 publications receiving 607 citations.
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Journal ArticleDOI
A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3).
Alfons Meindl,K. L. Dry,Kathrin Herrmann,Forbes D C Manson,Alfredo Ciccodicola,A. J. Edgar,Maria Raquel Santos Carvalho,Helene Achatz,Heide Hellebrand,Alan Lennon,Carmela Migliaccio,K. Porter,Eberhart Zrenner,Alan C. Bird,Marcelle Jay,Birgit Lorenz,B. Wittwer,Michele D'Urso,Thomas Meitinger,A F Wright +19 more
TL;DR: The two intragenic deletions, two nonsense and three missense mutations within conserved domains provide evidence that RPGR (retinitis pigmentosa GTPase regulator) is the RP3 gene.
Journal ArticleDOI
Differentially regulated and evolved genes in the fully sequenced Xq/Yq pseudoautosomal region.
Alfredo Ciccodicola,Maurizio D'Esposito,Teresa Esposito,Fernando Gianfrancesco,Carmela Migliaccio,Maria Giuseppina Miano,Maria R. Matarazzo,Marcella Vacca,Annamaria Franzè,Monica Cuccurese,Massimo Cocchia,Anna Curci,Antonio Terracciano,Anna Torino,Silvia Cocchia,Grazia Mercadante,Emilio Pannone,Nicoletta Archidiacono,Mariano Rocchi,David Schlessinger,Michele D'Urso +20 more
TL;DR: These properties make Xq/YqPAR a model for studies of region-specific gene inactivation, telomere evolution, and involvement in sex-limited conditions.
Journal ArticleDOI
Cloning and gene structure of the rod cGMP phosphodiesterase delta subunit gene ( PDED ) in man and mouse
Bettina Lorenz,Carmela Migliaccio,Peter Lichtner,Carsten H. Meyer,Tim M. Strom,Michele D'Urso,Jörg Becker,Alfredo Ciccodicola,Thomas Meitinger +8 more
TL;DR: The human PDED gene consisted of 5 exons spanning at least 30 kb of genomic DNA, and Northern blot analysis showed a 1.3 kb transcript in human retina, heart, brain, placenta, liver, and skeletal muscle.
Journal ArticleDOI
Human protein kinase C iota gene (PRKCI) is closely linked to the BTK gene in Xq21.3
Richard Mazzarella,Alfredo Ciccodicola,Teresa Esposito,Alessandro Arcucci,Carmela Migliaccio,Carmela Jones,David Schlessinger,Michele D'Urso,Maurizio D'Esposito +8 more
TL;DR: One of these ESTs, EST02087, was physically linked in a 650-kb contig to the GLA ({alpha}-galactosidase) gene involved in Fabry disease, and a comparison of this contig with a 7.5-Mb YAC contig indicated that this gene is also within 250 kb of the src-like protein-tyrosine kinase BTK (X-linked agammaglobulinemia protein- tyros
Journal Article
Two novel mutations in the retinitis pigmentosa GTPase regulator (RPGR) gene in X-linked retinitis pigmentosa (RP3). Mutations in brief no. 172. Online.
Maria Giuseppina Miano,Diana Valverde,T Solans,Barbara Grammatico,Carmela Migliaccio,Cirigliano,DeBernardo C,Ventruto,Thomas Meitinger,A F Wright,Del Porto G,Montserrat Baiget,Michele D'Urso,Alfredo Ciccodicola +13 more
TL;DR: Two new mutations, the first a single base pair deletion and the other a two base pairs deletion, have been found in one Spanish and one Italian family.