Comprehensive Molecular Analysis of Disease-Related Genes as First-Tier Test for Early Diagnosis, Classification, and Management of Patients Affected by Nonsyndromic Ichthyosis

Autor: Tiziana Fioretti, Fabrizio Martora, Ilaria De Maggio, Adelaide Ambrosio, Carmelo Piscopo, Sabrina Vallone, Felice Amato, Diego Passaro, Fabio Acquaviva, Francesca Gaudiello, Daniela Di Girolamo, Valeria Maiolo, Federica Zarrilli, Speranza Esposito, Giuseppina Vitiello, Luigi Auricchio, Elena Sammarco, Daniele De Brasi, Roberta Petillo, Antonella Gambale, Fabio Cattaneo, Rosario Ammendola, Paola Nappa, Gabriella Esposito

Publikováno v: Biomedicines, Vol 12, Iss 5, p 1112 (2024)

Inherited ichthyoses are a group of clinically and genetically heterogeneous rare disorders of skin keratinization with overlapping phenotypes. The clinical picture and family history are crucial to formulating the diagnostic hypothesis, but only the

Externí odkaz: https://doaj.org/article/cf770a14d73143508ed72d9485ac9251

Clinical heterogeneity of Kabuki syndrome in a cohort of Italian patients and review of the literature

Autor: Mariateresa Falco, Pietro Strisciuglio, Ilaria De Maggio, Fortunato Lonardo, Daniela Melis, Gabriella Maria Squeo, Giuseppe Merla, Gerarda Cappuccio, Gioacchino Scarano, Carmen Rosano, Maria Siano, Claudia Mandato, Carmelo Piscopo, Paolo Fontana, Francesca Di Candia, P. Paglia, Daniele De Brasi, Matteo Della Monica

Publikováno v: European Journal of Pediatrics

Kabuki syndrome (KS) is a well-recognized disorder characterized by postnatal growth deficiency, dysmorphic facial features, skeletal anomalies, and intellectual disability. The syndrome is caused by KMT2D gene mutations or less frequently KDM6A gene

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d297000022926bc6fd87f0ad960111bc
http://europepmc.org/articles/PMC8760211

Pathobiologic Mechanisms of Neurodegeneration in Osteopetrosis Derived from Structural and Functional Analysis of 14 ClC-7 Mutants

Autor: Shanti Balasubramanian, Miguel R. Abboud, Cristina Sobacchi, Maria Antonietta Pisanti, Baldassarre Martire, Robert Chiesa, Laura Lagostena, Fiorella Gurrieri, Ariana Kariminejad, Dario Strina, Gareth Baynam, Eleonora Di Zanni, Asma Rehman, Alessandra Picollo, Christine P Burren, Lien De Somer, Eleonora Palagano, Ilaria De Maggio, Justin C. Brown, Anna Villa, Mario Abinun

Publikováno v: Journal of bone and mineral research 36 (2020): 535–541. doi:10.1002/jbmr.4200
info:cnr-pdr/source/autori:Eleonora Di Zanni 1, Eleonora Palagano 2 3, Laura Lagostena 1, Dario Strina 2 3, Asma Rehman 4, Mario Abinun 5 6, Lien De Somer 7, Baldassarre Martire 8, Justin Brown 9 10, Ariana Kariminejad 11, Shanti Balasubramanian 12, Gareth Baynam 13 14 15 16, Fiorella Gurrieri 17, Maria A Pisanti 18, Ilaria De Maggio 18, Miguel R Abboud 19, Robert Chiesa 20, Christine P Burren 21 22, Anna Villa 2 23, Cristina Sobacchi 2 3, Alessandra Picollo 1/titolo:Pathobiologic Mechanisms of Neurodegeneration in Osteopetrosis Derived from Structural and Functional Analysis of 14 ClC-7 Mutants/doi:10.1002%2Fjbmr.4200/rivista:Journal of bone and mineral research/anno:2020/pagina_da:535/pagina_a:541/intervallo_pagine:535–541/volume:36
Di Zanni, E, Palagano, E, Lagostena, L, Strina, D, Rehman, A, Abinun, M, De Somer, L, Martire, B, Brown, J, Kariminejad, A, Balasubramanian, S, Baynam, G, Gurrieri, F, Pisanti, M A, De Maggio, I, Abboud, M R, Chiesa, R, Burren, C P, Villa, A, Sobacchi, C & Picollo, A 2020, ' Pathobiologic Mechanisms of Neurodegeneration in Osteopetrosis Derived from Structural and Functional Analysis of 14 ClC-7 Mutants ', Journal of Bone and Mineral Research . https://doi.org/10.1002/jbmr.4200

ClC-7 is a chloride-proton antiporter of the CLC protein family. In complex with its accessory protein Ostm-1, ClC-7 localizes to lysosomes and to the osteoclasts' ruffled border, where it plays a critical role in acidifying the resorption lacuna dur

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b137296a52c0cb5371623fdd31814b90

Two founder mutations in the SEC23B gene account for the relatively high frequency of CDA II in the Italian population

Autor: Maria Luisa Serra, Hannah Tamary, Antonella Gambale, Roberta Russo, Mario Capasso, Achille Iolascon, Lucio Luzzatto, Ilaria De Maggio, Annaelena Troiano, Jean Delaunay, Maria Rosaria Esposito

Publikováno v: American Journal of Hematology

Congenital Dyserythropoietic Anemia type II is an autosomal recessive disorder characterized by unique abnormalities in the differentiation of cells of the erythroid lineage. The vast majority of CDA II cases result from mutations in the SEC23B gene.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e1a0a5bb127d0b359910d24df07d6b9a
https://pubmed.ncbi.nlm.nih.gov/21850656