Article
Cell & Tissue Engineering
Tingting Li, Huifang Sun, Zhuoya Wang, Qi Zhang, Na Chen, Ke Zhang, Yanlin Wang, Yuming Xu
Summary: Myotonic dystrophy (DM1) is primarily caused by abnormal CTG repeat sequences in the DMPK gene, leading to progressive muscular atrophy and weakness. Some patients also develop cataracts. Researchers have successfully generated skin fibroblasts and induced pluripotent stem cells (iPSCs) from a DM1 patient with cataract, providing a reliable cell model for studying the pathogenesis and potential therapeutic targets of DM1.
STEM CELL RESEARCH
(2022)
Article
Cell & Tissue Engineering
Xiaohua Jiang, Ruomeng Hu, Caihua Li, Xuan Xu, Ping Zhou, Yunxia Cao, Jianye Wang, Zhaolian Wei
Summary: Polycystic ovary syndrome (PCOS) is a common endocrine disorder in women of reproductive age. Establishing a disease-specific induced pluripotent stem cell line (iPSC) is beneficial for studying the pathogenic mechanisms and developing drug-based models for PCOS.
STEM CELL RESEARCH
(2022)
Article
Cell & Tissue Engineering
Dawei Chen, Tao Wang, Xin Ye, Xiuzhang Xu, Wenjie Xia, Yongshui Fu
Summary: Patient-specific induced pluripotent stem cells (hiPSC) have been shown to be useful for studying and finding new therapeutic approaches to fetal and neonatal alloimmune thrombocytopenia (FNAIT) caused by anti-CD36 isoantibodies.
STEM CELL RESEARCH
(2022)
Article
Cell & Tissue Engineering
Xianying Fang, Ji Hyun Kim, Sheng Cui, Yoo Jin Shin, Hanbi Lee, Eun Jeong Ko, Hae Il Cheong, Sejoong Kim, Hoon Seok Kim, Myungshin Kim, Chul Woo Yang, Sun Woo Lim, Byung Ha Chung
Summary: Dent disease is a rare X-linked tubular disorder that causes proteinuria, hypercalciuria, kidney stones, and chronic kidney disease. Researchers successfully established a hiPSC line from a 10-year-old male with Dent disease 1 caused by a mutation in the Chloride Voltage-Gated Channel 5 gene. These hiPSCs exhibit characteristics similar to human embryonic stem cells and have the potential for developing novel treatments for Dent disease.
STEM CELL RESEARCH
(2023)
Article
Cell & Tissue Engineering
Deniz A. Madencioglu, Karina Kruth, Mallory Shin, Nancy Andreasen, Thomas Wassink, Aislinn Williams
Summary: Human induced pluripotent stem cells were generated from fibroblasts obtained from a patient diagnosed with schizophrenia with a 16p11.2 deletion, and the pluripotency and differentiation potential of the generated cell line were further validated.
STEM CELL RESEARCH
(2022)
Article
Cell & Tissue Engineering
Chi Zhang, Jian Shi, Zhen Zhang, Qianqian Zhao, Manting Xie, Ying Chen, Qiuling Xiang
Summary: In this study, peripheral blood mononuclear cells from a patient with hypertrophic cardiomyopathy were reprogrammed into pluripotent stem cells using Sendai-virus. The established cell line showed strong expression of pluripotency markers and differentiation potential, providing a valuable tool for investigating the pathogenesis and therapeutic strategies of HCM.
STEM CELL RESEARCH
(2022)
Article
Cell & Tissue Engineering
Hongmin Wu, Jia Fang, Yaoqian Liu, Jingjing Wang, Zhengnong Chen, Jiping Wang, Haibo Shi
Summary: Otosclerosis is a disease caused by abnormal bone remodeling in the middle ear, and there is currently no effective drug treatment available. This study successfully generated an induced pluripotent stem cell line from a patient with otosclerosis, demonstrating normal characteristics and pluripotency.
STEM CELL RESEARCH
(2022)
Article
Cell & Tissue Engineering
Tanja Ilmarinen, Meri Vattulainen, Jeyalakshmi Kandhavelu, Dominique Bremond-Gignac, Daniel Aberdam, Heli Skottman
Summary: Congenital aniridia is caused by mutations on the PAX6 gene leading to reduced PAX6 protein and abnormal eye development. Aniridia-associated keratopathy (AAK) is characterized by progressive corneal opacification similar to late-onset limbal stem cell (LSC) deficiency. This study generated induced pluripotent stem cells (hiPSC) from AAK patients and found that PAX6 haploinsufficiency affects LSC lineage commitment.
Article
Cell & Tissue Engineering
Shasha Li, Qunyan Zhu, Yaoyao Cai, Qian Yang
Summary: In this study, we successfully established patient-derived iPSCs to study the pathogenesis of Angelman syndrome and explore potential treatment approaches.
STEM CELL RESEARCH
(2022)
Article
Cell & Tissue Engineering
Liliya Nazlamova, Emma-Jane Cassidy, Jane C. Sowden, Andrew Lotery, Jorn Lakowski
Summary: A fluorescent reporter cell line for human cone photoreceptors was generated using CRISPR/Cas9 genome editing, allowing for tracking and analysis of cone cell development. The reporter cell line accurately labels cone cells and reveals migratory activity during in vitro differentiation.
Article
Cell & Tissue Engineering
Qi Zhang, Zhuoya Wang, Huifang Sun, Na Chen, Xingjian Xu, Jing Yang, Yuan Gao, Yanlin Wang, Yuming Xu
Summary: Spastic paraplegia type 7 is a rare monogenic neurodegenerative disease caused by mutations in the SPG7 gene. Clinical features include spasms of the lower limbs and muscle weakness. In this study, patient dermal fibroblasts were successfully transformed into induced pluripotent stem cells, providing a resource for mechanism exploration and potential treatments.
STEM CELL RESEARCH
(2021)
Article
Cell & Tissue Engineering
Fen Liu, Yu Fan, Liyuan Fan, Mengjie Li, Qimeng Zhang, Chengyuan Mao, Jun Wu, Shuo Zhang, Zhengwei Hu, Changhe Shi, Yuming Xu
Summary: SCA19 is a rare inherited disease with no effective treatment currently available. Researchers successfully transformed cells from a patient into induced pluripotent stem cells, providing a new direction for exploring the disease mechanism.
STEM CELL RESEARCH
(2021)
Article
Cell & Tissue Engineering
Jing Fang, Yanlin Wang, Zhuoya Wang, Huifang Sun, Qi Zhang, Jing Yang, Yutao Liu, Han Liu, Changhe Shi, Yuming Xu, Xinzhong Zhang, Quancheng Kan
Summary: In this study, skin fibroblasts were obtained from a SCA3 patient and iPSCs were successfully constructed, showing stable karyotype, expression of pluripotency markers, and ability to differentiate into all three germ layers. The generated iPSC line may serve as a useful model for identifying SCA3-related pathological mechanisms.
STEM CELL RESEARCH
(2021)
Article
Cell & Tissue Engineering
Luciana Isaja, Maria Soledad Rodriguez-Varela, Mariela Marazita, Sofia Mucci, Tatiana Itzcovich, Patricio Chrem-Mendez, Matias Niikado, Sofia Lujan Ferriol-Laffouillere, Ricardo Allegri, Horacio Martinetto, Gustavo Emilio Sevlever, Maria Elida Scassa, Ezequiel Ignacio Surace, Leonardo Romorini
Summary: The hiPSC line FLENIi001-A was reprogrammed from dermal fibroblasts of a 72-year-old Caucasian male familial Alzheimer's disease patient with the T119I mutation in the PSEN1 gene. The PSEN1 genotype was maintained and stemness and pluripotency of the FLENIi001-A hiPSC line were confirmed.
STEM CELL RESEARCH
(2021)
Article
Cell & Tissue Engineering
Lilas Batool, Constanze Raab, Christien Madlen Beez, Krithika Hariharan, Andreas Kurtz, Maik Gollasch, Bella Rossbach
Summary: Individuals with TRPC6 mutation can have varying phenotypes, from carriers to FSGS. A hiPSC line was generated from urinary cells of an FSGS patient with a TRPC6 mutant variant using Yamanaka factors. The pluripotency of the hiPSC line was confirmed, making it a valuable tool for disease modeling and drug development for FSGS.
STEM CELL RESEARCH
(2023)
Article
Health Care Sciences & Services
Simone Migliore, Giulia D'Aurizio, Eugenia Scaricamazza, Sabrina Maffi, Consuelo Ceccarelli, Giovanni Ristori, Silvia Romano, Anna Castaldo, Mario Fichera, Giuseppe Curcio, Ferdinando Squitieri
Summary: This study focused on Cognitive Reserve (CR) in patients with early Huntington Disease (HD) and found that lifetime intellectual enrichment may influence clinical outcomes. The results indicated that leisure time cognitive reserve was inversely associated with functional impairment and HD progression, while positively associated with cognitive performance.
JOURNAL OF PERSONALIZED MEDICINE
(2022)
Article
Health Care Sciences & Services
Sabrina Maffi, Eugenia Scaricamazza, Simone Migliore, Melissa Casella, Consuelo Ceccarelli, Ferdinando Squitieri
Summary: This study investigated the correlations between sleep features and motor, cognitive, behavioral, and functional changes in individuals with Huntington's disease (HD). The results showed a significant association between sleep abnormalities and the severity of disease progression, as well as impaired independence, cognitive performance, and motor functions. Sleep abnormalities are an important aspect of the clinical profile of HD and can greatly impact patients' quality of life.
JOURNAL OF PERSONALIZED MEDICINE
(2022)
Article
Chemistry, Medicinal
Theo Battista, Stefano Federico, Simone Brogi, Luca Pozzetti, Tuhina Khan, Stefania Butini, Anna Ramunno, Eleonora Fiorentino, Stefania Orsini, Trentina Di Muccio, Annarita Fiorillo, Cecile Exertier, Daniel Di Risola, Andrea Ilari, Giuseppe Campiani, Gianni Colotti, Sandra Gemma
Summary: Leishmania spp. is a significant public health issue, and developing better therapeutic drugs is urgently needed. This study optimized a novel class of Leishmania inhibitors through various approaches and identified potent and selective compounds that could be used for treating leishmaniasis and related diseases.
ACS INFECTIOUS DISEASES
(2022)
Article
Genetics & Heredity
Gioia Mastromoro, Daniele Guadagnolo, Enrica Marchionni, Barbara Torres, Marina Goldoni, Annamaria Onori, Laura Bernardini, Alessandro De Luca, Isabella Torrente, Antonio Pizzuti
Summary: Mosaic genome-wide paternal uniparental disomy (GWpUPD) refers to a rare condition where two euploid cell lines coexist in the same individual, one with biparental content and one with genome-wide paternal isodisomy. This case report discusses a complex prenatal diagnosis with discordant results from cultured and uncultured samples, leading to suspicion of mosaic GWpUPD which was later confirmed by SNP-array. The assessment of mosaic GWpUPD requires multiple approaches beyond the current established diagnostic processes, emphasizing the importance of clinical acumen and an integrated testing approach.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2023)
Article
Biochemistry & Molecular Biology
Francesca Piceci-Sparascio, Lucia Micale, Barbara Torres, Valentina Guida, Federica Consoli, Isabella Torrente, Annamaria Onori, Emanuela Frustaci, Maria Cecilia D'Asdia, Francesco Petrizzelli, Laura Bernardini, Cecilia Mancini, Fiorenza Soli, Dario Cocciadiferro, Daniele Guadagnolo, Gioia Mastromoro, Carolina Putotto, Franco Fontana, Nicola Brunetti-Pierri, Antonio Novelli, Antonio Pizzuti, Bruno Marino, Maria Cristina Digilio, Tommaso Mazza, Bruno Dallapiccola, Victor Luis Ruiz-Perez, Marco Tartaglia, Marco Castori, Alessandro De Luca
Summary: Deleterious variants of the DYNC2H1 gene are associated with a wide range of skeletal ciliopathies. Targeted parallel sequencing was used to analyze 25 families with unresolved molecular diagnoses. Deleterious DYNC2H1 variants were identified in six sporadic patients and two monozygotic twins. The clinical phenotypes displayed a variety of skeletal ciliopathy disorders, including EvC, mixed ATD/EvC, and short rib-polydactyly/EvC.
EUROPEAN JOURNAL OF HUMAN GENETICS
(2023)
Article
Cell & Tissue Engineering
Elisa Maria Turco, Angela Maria Giada Giovenale, Giovannina Rotundo, Martina Mazzoni, Paola Zanfardino, Katia Frezza, Isabella Torrente, Rose Mary Carletti, Devid Damiani, Filippo M. Santorelli, Angelo Luigi Vescovi, Vittoria Petruzzella, Jessica Rosati
Summary: This study reports the generation and characterization of a hiPSC line from a patient with a rare subtype of hereditary neuropathy. The patient-specific hiPSCs provide a disease model for further study of this rare condition.
STEM CELL RESEARCH
(2022)
Article
Cell Biology
Elisa Maria Turco, Angela Maria Giada Giovenale, Laura Sireno, Martina Mazzoni, Alessandra Cammareri, Caterina Marchioretti, Laura Goracci, Alessandra Di Veroli, Elena Marchesan, Daniel D'Andrea, Antonella Falconieri, Barbara Torres, Laura Bernardini, Maria Chiara Magnifico, Alessio Paone, Serena Rinaldo, Matteo Della Monica, Stefano D'Arrigo, Diana Postorivo, Anna Maria Nardone, Giuseppe Zampino, Roberta Onesimo, Chiara Leoni, Federico Caicci, Domenico Raimondo, Elena Binda, Laura Trobiani, Antonella De Jaco, Ada Maria Tata, Daniela Ferrari, Francesca Cutruzzola, Gianluigi Mazzoccoli, Elena Ziviani, Maria Pennuto, Angelo Luigi Vescovi, Jessica Rosati
Summary: Smith-Magenis syndrome (SMS) is a neurodevelopmental disorder characterized by cognitive and behavioral symptoms, obesity, and sleep disturbance. This study investigated the pathogenetic processes underlying SMS by analyzing primary cells derived from SMS patients and control subjects. The findings suggest that lipid metabolism, autophagy defects, and mitochondrial dysfunction are involved in the pathological processes of SMS. Treatment with N-acetylcysteine reduces cell death and lipid accumulation, indicating a potential therapeutic target.
CELL DEATH & DISEASE
(2022)
Article
Agriculture, Dairy & Animal Science
Ana Belen Garcia-Delgado, Rafael Campos-Cuerva, Cristina Rosell-Valle, Maria Martin-Lopez, Carlos Casado, Daniela Ferrari, Javier Marquez-Rivas, Rosario Sanchez-Pernaute, Beatriz Fernandez-Munoz
Summary: In this study, we developed an experimental model using human stem cells grown in vitro to form brain organoids, and evaluated their potential for assessing the safety of cell therapy products. Our results suggest that brain organoids provide valuable information in the evaluation of cell therapies, and can help reduce the use of animals in regulatory studies.
Correction
Cell Biology
Angela Maria Giada Giovenale, Giorgia Ruotolo, Amata Amy Soriano, Elisa Maria Turco, Giovannina Rotundo, Alessia Casamassa, Angela D'Anzi, Angelo Luigi Vescovi, Jessica Rosati
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2023)
Review
Cell Biology
Angela Maria Giada Giovenale, Giorgia Ruotolo, Amata Amy Soriano, Elisa Maria Turco, Giovannina Rotundo, Alessia Casamassa, Angela D'Anzi, Angelo Luigi Vescovi, Jessica Rosati
Summary: The CHRNA7 gene is expressed in both the central and peripheral nervous systems and is involved in brain development and adult neurogenesis through the mediation of acetylcholine stimulus. Copy number variations of the CHRNA7 gene have been linked to cognitive impairments in multiple disorders. Animal models have been used to study the gene due to the limitations of studying the living human brain directly. However, significant differences exist between humans and mice in studying CNVs, particularly in the CHRNA7 gene located on chromosome 15q13.3. Induced pluripotent stem cells from patients with CNV in the CHRNA7 gene provide a good in vitro model for studying the association of the alpha 7 receptor with human diseases. This review outlines the current state of hiPSCs technology in studying neurological diseases caused by CNVs in the CHRNA7 gene and discusses some weaknesses in the published articles.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2023)
Review
Medicine, General & Internal
Gioia Mastromoro, Daniele Guadagnolo, Nader Khaleghi Hashemian, Laura Bernardini, Antonella Giancotti, Gerardo Piacentini, Alessandro De Luca, Antonio Pizzuti
Summary: Fetal nuchal fluid collections have two distinct presentations, increased nuchal translucency (iNT) and cystic hygroma. Genetic counseling and testing, including karyotype, chromosomal microarray analysis (CMA), and multigene RASopathy panel, are necessary for accurate assessment. The diagnostic yields of genetic testing were calculated through a systematic literature review and meta-analysis. Fetuses with isolated NT >= 2.5 mm had karyotype anomalies in 22.76% of cases and CMA had an incremental detection rate of 2.35%. Fetuses with isolated NT >= 3 mm had aneuploidies in 14.36% of cases and CMA had an incremental detection rate of 3.89%. For isolated NT >= 3.5 mm, karyotyping had a diagnostic yield of 34.35%, CMA had an incremental detection rate of 4.1%, RASopathy panel had an incremental diagnostic rate of 1.44%, and exome sequencing had a rate of 2.44%.
Letter
Genetics & Heredity
Chiara Leoni, Germana Viscogliosi, Roberta Onesimo, Tommaso Verdolotti, Tommaso Biagini, Tommaso Mazza, Alessandro De Luca, Lucrezia Perri, Valentina Trevisan, Elisabetta Flex, Marco Tartaglia, Giuseppe Zampino
Meeting Abstract
Biochemistry & Molecular Biology
Gioia Mastromoro, Daniele Guadagnolo, Enrica Marchionni, Francesca Di Palma, Barbara Torres, Marina Goldoni, Annamaria Onori, Laura Bernardini, Alessandro De Luca, Isabella Torrente, Antonio Pizzuti
EUROPEAN JOURNAL OF HUMAN GENETICS
(2022)
Meeting Abstract
Biochemistry & Molecular Biology
F. R. A. N. C. E. S. C. A. PICECI-SPARASCIO, Isabella Torrente, Maria Cecilia D'Asdia, Valentina Guida, Federica Consoli, Annamaria Onori, Barbara Torres, Laura Bernardini, Tommaso Mazza, Paolo Versacci, Maria Cristina DiGilio, Bruno Marino, Alessandro De Luca
EUROPEAN JOURNAL OF HUMAN GENETICS
(2022)
