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3 results on '"Chiara Baldo"'

1. Generation of IGGi003-A induced pluripotent stem cell line from a patient with Sotos Syndrome carrying c.1633delA NSD1 variant in exon 5

Author

Giuseppina Conteduca, Chiara Baldo, Alessia Arado, Joana Soraia Martinheira da Silva, Barbara Testa, Simona Baldassari, Federico Zara, Gilberto Filaci, Domenico Coviello, and Michela Malacarne

Subjects
Biology (General), QH301-705.5
Abstract

Sotos syndrome (SoS) is a neurodevelopmental disorder that results from NSD1 mutations that cause haploinsufficiency of NSD1. Here, we generated an induced pluripotent stem cell (iPSC) line from fibroblasts of a SoS patient carrying the pathogenic variant (c.1633delA). The cell line shows typical iPSC morphology, high expression of pluripotent markers, normal karyotype, and it differentiates into three germ layers in vitro. This line is a valuable resource for studying pathological pathways involved in SoS.

Published
2024
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2. Generation of induced pluripotent stem cell lines from a patient with Sotos syndrome carrying 5q35 microdeletion

Author

Giuseppina Conteduca, Chiara Baldo, Alessia Arado, Monica Traverso, Barbara Testa, Michela Malacarne, Domenico Coviello, Federico Zara, and Simona Baldassari

Subjects
Biology (General), QH301-705.5
Abstract

Sotos syndrome (SoS) is a neurodevelopmental disorder caused by haploinsufficiency of the NSD1 gene located on chromosome 5 region q35.3. In order to understand the pathogenesis of Sotos syndrome and in view of future therapeutic approaches for its efficient treatment, we generated two human induced pluripotent stem cells (iPSCs) lines from one SoS patient carrying a 5q35 microdeletion. The established iPSCs expressed pluripotency markers, showing the capacity to differentiate into the three germ layers.

Published
2023
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3. BGN Mutations in X-Linked Spondyloepimetaphyseal Dysplasia

Author

Francesca Faravelli, Ok Hwa Kim, Noriko Miyake, Ah Ra Ko, Chiara Baldo, Francesca Forzano, Jong Sup Shim, Sung Yoon Cho, Dongsup Kim, Nayoung K.D. Kim, Kyoung Yeul Lee, Katta M. Girisha, Jürgen Spranger, Woong-Yang Park, Jun Seok Bae, Andrea Superti-Furga, Dong Kyu Jin, Shiro Ikegawa, Tae Joon Cho, and Gen Nishimura

Subjects
0301 basic medicine, Adult, Male, Protein Conformation, medicine.disease_cause, Osteochondrodysplasias, 03 medical and health sciences, Transforming Growth Factor beta, Report, Biglycan, medicine, Genetics, Missense mutation, Humans, Genetics(clinical), Amino Acid Sequence, Child, Peptide sequence, Genetics (clinical), Exome sequencing, Aged, Mutation, Spondyloepimetaphyseal dysplasia, biology, Sequence Homology, Amino Acid, Infant, Newborn, Infant, Genetic Diseases, X-Linked, Transforming growth factor beta, Middle Aged, medicine.disease, Pedigree, 030104 developmental biology, Proteoglycan, Child, Preschool, biology.protein, Female, Protein Binding
Abstract

Spondyloepimetaphyseal dysplasias (SEMDs) comprise a heterogeneous group of autosomal-dominant and autosomal-recessive disorders. An apparent X-linked recessive (XLR) form of SEMD in a single Italian family was previously reported. We have been able to restudy this family together with a second family from Korea by segregating a severe SEMD in an X-linked pattern. Exome sequencing showed missense mutations in BGN c.439A>G (p.Lys147Glu) in the Korean family and c.776G>T (p.Gly259Val) in the Italian family; the c.439A>G (p.Lys147Glu) mutation was also identified in a further simplex SEMD case from India. Biglycan is an extracellular matrix proteoglycan that can bind transforming growth factor beta (TGF-β) and thus regulate its free concentration. In 3-dimensional simulation, both altered residues localized to the concave arc of leucine-rich repeat domains of biglycan that interact with TGF-β. The observation of recurrent BGN mutations in XLR SEMD individuals from different ethnic backgrounds allows us to define "XLR SEMD, BGN type" as a nosologic entity.

Published
2016

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