Article
Biology
Ethiraj Ravindran, Nobuto Arashiki, Lena-Luise Becker, Kohtaro Takizawa, Jonathan Levy, Thomas Rambaud, Konstantin L. Makridis, Yoshio Goshima, Na Li, Maaike Vreeburg, Benedicte Demeer, Achim Dickmanns, Alexander P. A. Stegmann, Hao Hu, Fumio Nakamura, Angela M. Kaindl
Summary: Variants in the CRMP1 gene are discovered to be associated with neurodevelopmental disorders such as muscular hypotonia, intellectual disability, and/or autism spectrum disorder. These variants may affect the protein structure and function of CRMP1, leading to alterations in cellular processes and neurite outgrowth.
Article
Medicine, General & Internal
Hyunjin Kwon, Hyokju Maeng, Jinwook Chung
Summary: This study developed an ICT-based exergame for children with developmental disabilities (DD) and examined its impacts on physical fitness and fundamental motor skills (FMS). The results showed that the exergame program significantly improved physical fitness and three FMS (hop, overhand throw, and dribble) in children with DD except for the horizontal jump skill.
JOURNAL OF CLINICAL MEDICINE
(2022)
Article
Neurosciences
Dongfang Zou, Bing Qin, Jie Wang, Yiwu Shi, Peng Zhou, Yonghong Yi, Jianxiang Liao, Xinguo Lu
Summary: AFF2 mutations were found to be associated with partial epilepsy and antecedent febrile seizures in males without intellectual disability or other developmental abnormalities. These mutations did not occur in the control populations. Previous mutations associated with intellectual disability were primarily genomic rearrangements and CCG repeat expansion mutations, while mutations associated with partial epilepsy were all missense mutations.
FRONTIERS IN MOLECULAR NEUROSCIENCE
(2022)
Article
Public, Environmental & Occupational Health
Tsung Yu, Yueh-Ju Lien, Fu-Wen Liang, Pao-Lin Kuo
Summary: The study from Taiwan suggests that parental socioeconomic status is associated with the risk of autism spectrum disorder in offspring, with higher SES independently correlated with higher ASD risk. In contrast, higher SES was independently associated with lower risk of intellectual disability. Potential factors related to socio-economic status may contribute to the positive relation of SES and ASD risk.
AMERICAN JOURNAL OF EPIDEMIOLOGY
(2021)
Article
Medical Laboratory Technology
Shimeng Chen, Juan Xiong, Baiyu Chen, Ciliu Zhang, Xiaolu Deng, Fang He, Lifen Yang, Chen Chen, Jing Peng, Fei Yin
Summary: This study retrospectively analyzed the clinical characteristics and genetic spectrum of 79 ASD-NDDs patients, and found that 51.3% of the patients received a genetic diagnosis. Most patients had comorbid intellectual disability or global developmental delay, as well as epilepsy. The study also identified novel candidate genes related to ASD.
CLINICA CHIMICA ACTA
(2022)
Article
Medical Laboratory Technology
Shimeng Chen, Xiaolu Deng, Juan Xiong, Fang He, Lifen Yang, Baiyu Chen, Chen Chen, Ciliu Zhang, Li Yang, Jing Peng, Fei Yin
Summary: This study explored the clinical and genetic characteristics of Chinese patients with de novo DEAF1 variants. The patients exhibited intellectual disability, language delay, and behavior problems. Interestingly, the DEAF1-related epilepsy in Eastern-Asian individuals was found to be completely treatable. The study expanded the knowledge of DEAF1-related neurodevelopmental disorder and the de novo variant database of DEAF1.
CLINICA CHIMICA ACTA
(2021)
Review
Genetics & Heredity
Verica Vasic, Mattson S. O. Jones, Denise Haslinger, Lisa S. Knaus, Michael J. Schmeisser, Gaia Novarino, Andreas G. Chiocchetti
Summary: This study reviews the associations between mutations affecting mTOR or RAS signaling and high risk for Autism Spectrum Disorder (ASD), suggesting an increased liability for ASD in individuals with dysmorphic features and intellectual disability (ID) in RAS- and mTOR-related gene mutations. Animal and human cell models confirm aberrant neuronal development as the underlying pathology, with multiple hits required to induce respective phenotypes. Clinical trials show improvements for comorbid conditions but not for behavioral aspects, emphasizing the need for further investigation into the differential roles of mTOR and RAS signaling in human and rodent models.
Article
Genetics & Heredity
Marije Meuwissen, Aline Verstraeten, Emmanuelle Ranza, Justyna Iwaszkiewicz, Maaike Bastiaansen, Ligia Mateiu, Merlijn Nemegeer, Josephina A. N. Meester, Alexandra Afenjar, Michelle Amaral, Diana Ballhausen, Sarah Barnett, Magalie Barth, Bob Asselbergh, Katrien Spaas, Bavo Heeman, Jennifer Bassetti, Patrick Blackburn, Marie Schaer, Xavier Blanc, Vincent Zoete, Kari Casas, Thomas Courtin, Diane Doummar, Frederic Guerry, Boris Keren, John Pappas, Rachel Rabin, Amber Begtrup, Marwan Shinawi, Anneke T. Vulto-van Silfhout, Tjitske Kleefstra, Matias Wagner, Alban Ziegler, Elise Schaefer, Benedicte Gerard, Charlotte De Bie, Sjoerd J. B. Holwerda, Mary Alice Abbot, Stylianos E. Antonarakis, Bart Loeys
Summary: This study describes a neurodevelopmental disorder caused by de novo variants in CTR9, primarily affecting PAF1C function. Clinical features of the patients include intellectual disability, hypotonia, joint hyperlaxity, speech delay, coordination problems, tremor, and autism spectrum disorder.
GENETICS IN MEDICINE
(2022)
Article
Clinical Neurology
Trine Tangeraas, Juliana R. Constante, Paul Hoff Backe, Alfonso Oyarzabal, Julia Neugebauer, Natalie Weinhold, Francois Boemer, Francois G. Debray, Burcu Ozturk-Hism, Gumus Evren, Eminoglu F. Tuba, Oncul Ummuhan, Emma Footitt, James Davison, Caroline Martinez, Clarissa Bueno, Irene Machado, Pilar Rodriguez-Pombo, Nouriya Al-Sannaa, Mariela de los Santos, Jordi Muchart Lopez, Hatice Ozturkmen-Akay, Meryem Karaca, Mustafa Tekin, Sonia Pajares, Aida Ormazabal, Stephanie D. Stoway, Rafael Artuch, Marjorie Dixon, Lars Morkrid, Angeles Garcia-Cazorla
Summary: Branched-chain ketoacid dehydrogenase kinase (BCKDK) deficiency is a neurodevelopmental disorder characterized by autism, intellectual disability and microcephaly. This study reports the largest cohort of patients studied, expanding the phenotypic and genotypic spectrum, and provides newborn screening findings and mid-term clinical outcome.
Article
Behavioral Sciences
Ning Pan, Bonnie Auyeung, Xin Wang, Li-Zi Lin, Hai-Lin Li, Xiao-Ling Zhan, Cheng-Kai Jin, Jin Jing, Xiu-Hong Li
Summary: This study examined the profiles of empathizing, systemizing, and empathizing-systemizing difference in children with autism spectrum disorder (ASD) with and without intellectual disability (ASD + ID; ASD-noID) and typically developing (TD) children aged 6-12 years. Differences in these profiles and the consistency of their associations with autistic traits were observed among the three groups. Empathizing and empathizing-systemizing difference, rather than systemizing, were closely associated with autistic traits within the three groups. The findings suggest the importance of considering these imbalanced profiles in behavioral interventions for ASD.
Article
Biochemistry & Molecular Biology
Chiara Giovenino, Slavica Trajkova, Lisa Pavinato, Simona Cardaropoli, Verdiana Pullano, Enza Ferrero, Elena Sukarova-Angelovska, Silvia Carestiato, Paola Salmin, Antonina Rinninella, Anthony Battaglia, Luca Bertoli, Antonio Fadda, Flavia Palermo, Diana Carli, Alessandro Mussa, Paola Dimartino, Alessandro Bruselles, Tawfiq Froukh, Giorgia Mandrile, Barbara Pasini, Silvia De Rubeis, Joseph D. Buxbaum, Tommaso Pippucci, Marco Tartaglia, Marzia Rossato, Massimo Delledonne, Giovanni Battista Ferrero, Alfredo Brusco
Summary: By studying the frequency of non-random X chromosome inactivation (XCI) in the mothers of male patients and affected females with neurodevelopmental disorders (NDD), we found skewed XCI in a subgroup of undiagnosed NDD cases. Re-evaluation of genetic variants and clinical data improved the diagnostic yield, leading to the identification of new X-linked disorders.
EUROPEAN JOURNAL OF HUMAN GENETICS
(2023)
Article
Neurosciences
Floriana Valentino, Lucia Pia Bruno, Gabriella Doddato, Annarita Giliberti, Rossella Tita, Sara Resciniti, Chiara Fallerini, Mirella Bruttini, Caterina Lo Rizzo, Maria Antonietta Mencarelli, Francesca Mari, Anna Maria Pinto, Francesca Fava, Margherita Baldassarri, Alessandra Fabbiani, Vittoria Lamacchia, Elisa Benetti, Kristina Zguro, Simone Furini, Alessandra Renieri, Francesca Ariani
Summary: This study utilized exome sequencing to identify a high rate of pathogenic variants in a cohort of 200 patients, with some genes responsible for established genetic syndromes and new candidate genes discovered. The results highlight the importance of exome sequencing in the diagnosis of ID/ASD.
Article
Psychology, Developmental
Gail A. Alvares, Melissa K. Licari, Paul G. Stevenson, Keely Bebbington, Matthew N. Cooper, Emma J. Glasson, Diana W. Tan, Mirko Uljarevic, Kandice J. Varcin, John Wray, Andrew J. O. Whitehouse
Summary: The study found that as birth order increases, adaptive functioning and intelligence scores in Autism Spectrum Disorder (ASD) cases decrease, with later-born children more likely to have intellectual disabilities.
JOURNAL OF CHILD PSYCHOLOGY AND PSYCHIATRY
(2021)
Article
Behavioral Sciences
Pura Ballester, Cristina Espadas, Ana C. Londono, Susana Almenara, Victor Aguilar, Cesar Belda, Enrique Perez, Javier Muriel, Ana M. Peiro
Summary: Adults with autism spectrum disorder and associated intellectual disability often take multiple psychotropic drugs simultaneously, with half of the sample under polypharmacy regimen. Despite a median of four ongoing medications per participant, only 64 adverse events were identified, mostly related to antipsychotic drugs. Some adverse events occurred more frequently than expected, highlighting the need for increased awareness about medication safety.
Article
Health Care Sciences & Services
Yu-Shu Huang, Ting-Hsuan Fang, Belle Kung, Chia-Hsiang Chen
Summary: In this study, the genetic deficits in two siblings affected with ID and ASD were investigated. A microdeletion at 22q13.3 resulting in the haploinsufficiency of SHANK3 and several nearby genes was found in the younger sister, leading to the diagnosis of Phelan-McDermid syndrome. Whole-genome sequencing analysis in the family identified several rare, likely pathogenic variants in seven genes implicated in neurodevelopmental disorders in the elder brother. These variants have only moderate clinical effects and were transmitted from unaffected parents. The results suggest that the combination of multiple genes with moderate effects is part of the genetic mechanism of neurodevelopmental disorders.
JOURNAL OF PERSONALIZED MEDICINE
(2022)
Article
Genetics & Heredity
Richard H. van Jaarsveld, Jack Reilly, Marie-Claire Cornips, Michael A. Hadders, Emanuele Agolini, Priyanka Ahimaz, Kwame Anyane-Yeboa, Severine Audebert Bellanger, Ellen van Binsbergen, Marie-Jose van den Boogaard, Elise Brischoux-Boucher, Raymond C. Caylor, Andrea Ciolfi, Ton A. J. van Essen, Paolo Fontana, Saskia Hopman, Maria Iascone, Margaret M. Javier, Erik-Jan Kamsteeg, Jennifer Kerkhof, Jun Kido, Hyung-Goo Kim, Tjitske Kleefstra, Fortunato Lonardo, Abbe Lai, Dorit Lev, Michael A. Levy, M. E. Suzanne Lewis, Angie Lichty, Marcel M. A. M. Mannens, Naomichi Matsumoto, Idit Maya, Haley McConkey, Andre Megarbane, Vincent Michaud, Evelina Miele, Marcello Niceta, Antonio Novelli, Roberta Onesimo, Rolph Pfundt, Bernt Popp, Eloise Prijoles, Raissa Relator, Sylvia Redon, Dmitrijs Rots, Karen Rouault, Ken Saida, Jolanda Schieving, Marco Tartaglia, Romano Tenconi, Kevin Uguen, Nienke Verbeek, Christopher A. Walsh, Keren Yosovich, Christopher J. Yuskaitis, Giuseppe Zampino, Bekim Sadikovic, Marielle Alders, Renske Oegema
Summary: This study collected data on individuals with heterozygous KDM2B variants and used methylation arrays to identify a KDM2B-associated epigenetic signature. The study found that pathogenic heterozygous variants in KDM2B are associated with neurodevelopmental disorders (NDDs) and identified the CxxC domain as a mutational hotspot. The results also showed that the KDM2B episignature can be identified in the context of a dual molecular diagnosis in multiple individuals.
GENETICS IN MEDICINE
(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)
Review
Allergy
Stuart G. Tangye
Summary: Since the emergence of SARS-CoV-2 in December 2019, the COVID-19 pandemic has resulted in over 6.5 million deaths worldwide, highlighting the crucial role of the immune system in defending against emerging pathogens. Inborn errors of immunity (IEI), characterized by defects in immune cell development and function, make individuals highly susceptible to severe infections and immune dysregulation. The study of IEI has provided valuable insights into the mechanisms of disease pathogenesis and immunopathology, which can inform the development of therapies for both emerging and established infectious diseases.
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
(2023)
Article
Genetics & Heredity
F. Graeme Frost, Marie Morimoto, Prashant Sharma, Lyse Ruaud, Newell Belnap, Daniel G. Calame, Yuri Uchiyama, Naomichi Matsumoto, Machteld M. Oud, Elise A. Ferreira, Vinodh Narayanan, Sampath Rangasamy, Matt Huentelman, Lisa T. Emrick, Ikuko Sato-Shirai, Satoko Kumada, Nicole I. Wolf, Peter J. Steinbach, Yan Huang, Barbara N. Pusey, Sandrine Passemard, Jonathan Levy, Severine Drunat, Marie Vincent, Agnes Guet, Emanuele Agolini, Antonio Novelli, Maria Cristina Digilio, Jill A. Rosenfeld, Jennifer L. Murphy, James R. Lupski, Gilbert Vezina, Ellen F. Macnamara, David R. Adams, Maria T. Acosta, Cynthia J. Tifft, William A. Gahl, May Christine V. Malicdan
Summary: The majority of human genes undergo alternative splicing to generate multiple isoforms, and the regulation of these isoforms is crucial for development and function. The spliceosome, composed of small nuclear ribonucleoproteins (snRNPs), is responsible for splicing reactions. The snRNA gene transcription is initiated by SNAPc. In this study, ten individuals with bi-allelic SNAPC4 variants were identified. These variants led to motor developmental delay, regression, spasticity, and brain volume loss. The decrease in SNAPC4 levels resulted in reduced snRNA expression and dysregulation of alternative splicing. These findings demonstrate that bi-allelic SNAPC4 variants cause loss of function and contribute to neuroregression and progressive spasticity in affected individuals.
AMERICAN JOURNAL OF HUMAN GENETICS
(2023)
Article
Genetics & Heredity
Elke Bogaert, Aurore Garde, Thierry Gautier, Kathleen Rooney, Yannis Duffourd, Pontus LeBlanc, Emma van Reempts, Frederic Tran Mau-Them, Ingrid M. Wentzensen, Kit Sing Au, Kate Richardson, Hope Northrup, Vincent Gatinois, David Genevieve, Raymond J. Louie, Michael J. Lyons, Lone Walentin Laulund, Charlotte Brasch-Andersen, Trine Maxel Juul, Fatima El It, Nathalie Marle, Patrick Callier, Raissa Relator, Sadegheh Haghshenas, Haley McConkey, Jennifer Kerkhof, Claudia Cesario, Antonio Novelli, Nicola Brunetti-Pierri, Michele Pinelli, Perrine Pennamen, Sophie Naudion, Marine Legendre, Cecile Courdier, Aurelien Trimouille, Martine Doco Fenzy, Lynn Pais, Alison Yeung, Kimberly Nugent, Elizabeth R. Roeder, Tadahiro Mitani, Jennifer E. Posey, Daniel Calame, Hagith Yonath, Jill A. Rosenfeld, Luciana Musante, Flavio Faletra, Francesca Montanari, Giovanna Sartor, Alessandra Vancini, Marco Seri, Claude Besmond, Karine Poirier, Laurence Hubert, Dimitri Hemelsoet, Arnold Munnich, James R. Lupski, Christophe Philippe, Christel Thauvin-Robinet, Laurence Faivre, Bekim Sadikovic, Jerome Govin, Bart Dermaut, Antonio Vitobello
Summary: SRSF1 is a non-snRNP that regulates both constitutive and alternative splicing of mRNA. Heterozygous germline SRSF1 variants were identified in individuals with a neuro-developmental disorder, causing developmental delay and intellectual disability. In silico modeling, in vivo splicing assay, and epigenetic analysis confirmed the pathogenicity of most variants and the loss of SRSF1-mediated splicing activity.
AMERICAN JOURNAL OF HUMAN GENETICS
(2023)
Article
Clinical Neurology
Jessica Rossi, Marco Russo, Giuseppe Gobbi, Alessandra Terracciano, Roberta Zuntini, Stefano Giuseppe Caraffi, Antonio Novelli, Livia Garavelli, Franco Valzania, Romana Rizzi
Summary: This article reports on a 30-year-old Italian woman with Raynaud-Claes syndrome. She exhibited symptoms such as early-onset drug-resistant epilepsy, developmental and epileptic encephalopathy, developmental delay, absence of verbal language development, and behavioral impairment. This is the first report of this mutation in the CLCN4 gene in a female patient.
BRAIN & DEVELOPMENT
(2023)
Article
Virology
Michela Murdocca, Gennaro Citro, Eleonora Centanini, Rosalinda Giannini, Andrea Latini, Federica Centofanti, Eva Piano Mortari, Dario Cocciadiferro, Antonio Novelli, Sergio Bernardini, Giuseppe Novelli, Federica Sangiuolo
Summary: Despite the availability of different anti-SARS-CoV-2 vaccines, it is still uncertain whether they can provide long-lasting protection. Understanding the adaptive immune response to SARS-CoV-2 is crucial for vaccine development and pandemic control measures.
Article
Green & Sustainable Science & Technology
Simon Pezzutto, Giulio Quaglini, Philippe Riviere, Lukas Kranzl, Antonio Novelli, Andrea Zambito, Luigi Bottecchia, Eric Wilczynski
Summary: This study analyzed the process cooling (PC) sector in Europe, evaluating its final energy consumption (FEC) with a 2016 baseline. A comprehensive literature review was conducted to gather reliable and accurate data, resulting in a high-quality dataset. The results showed that the PC sector in the EU (plus UK) accounts for over 10% of the total electricity consumption in Europe, with more than 110 TWh/year. The study also highlighted the increasing use of non-vapour compression (VC) technologies in various sectors, emphasizing the need for sustainable and decarbonized practices in the industry.
Review
Genetics & Heredity
Andrea Pietrobattista, Luca Della Volpe, Paola Francalanci, Lorenzo Figa Talamanca, Lidia Monti, Francesca Romana Lepri, Maria Sole Basso, Daniela Liccardo, Claudia Della Corte, Antonella Mosca, Tommaso Alterio, Silvio Veraldi, Francesco Callea, Antonio Novelli, Giuseppe Maggiore
Summary: Zhu-Tokita-Takenouchi-Kim (ZTTK) syndrome, caused by loss-of-function variants in the SON gene, can affect multiple organs and have a wide spectrum of clinical symptoms. This study reports a case of ZTTK syndrome with chronic liver disease (CLD), which has not been previously reported in any series. Screening for liver involvement should be considered for patients with SON variants, and appropriate follow-up is necessary considering the role of SON in cancer development.
Article
Biochemistry & Molecular Biology
Viola Alesi, Silvia Genovese, Francesca Romana Lepri, Giorgia Catino, Sara Loddo, Valeria Orlando, Silvia Di Tommaso, Alessandra Morgia, Licia Martucci, Maddalena Di Donato, Maria Cristina Digilio, Bruno Dallapiccola, Antonio Novelli, Rossella Capolino
Summary: Neurofibromatosis type 1 is a genetic disorder caused by NF1 gene inactivation. The diagnosis is usually confirmed by genetic tests, but some cases have inconclusive results. Traditional genomic DNA approaches may miss certain variants, while cDNA-based methods are limited by mRNA decay and expression bias. In this study, a combined approach including Optical Genome Mapping, WGS, and cDNA studies was used to detect a LINE-1 insertion and its effects, providing important insights for undiagnosed patients.
Article
Genetics & Heredity
Daria Pagliara, Andrea Ciolfi, Lucia Pedace, Sadegheh Haghshenas, Marco Ferilli, Michael A. Levy, Evelina Miele, Claudia Nardini, Camilla Cappelletti, Raissa Relator, Angela Pitisci, Rita De Vito, Simone Pizzi, Jennifer Kerkhof, Haley McConkey, Francesca Nazio, Sarina G. Kant, Maddalena Di Donato, Emanuele Agolini, Marta Matraxia, Barbara Pasini, Alessandra Pelle, Tiziana Galluccio, Antonio Novelli, Tahsin Stefan Barakat, Marco Andreani, Francesca Rossi, Cristina Mecucci, Anna Savoia, Bekim Sadikovic, Franco Locatelli, Marco Tartaglia
Summary: Fanconi anemia (FA) is a genetically heterogeneous cancer-predisposing disorder. In this study, the researchers identified a DNA methylation signature that can distinguish FA patients from healthy individuals and patients with other genetic disorders. This signature can be used for FA diagnosis and training machine learning models for faster molecular diagnosis.
AMERICAN JOURNAL OF HUMAN GENETICS
(2023)
Article
Multidisciplinary Sciences
Danye Lee, Jeremie Le Pen, Ahmad Yatim, Beihua Dong, Yann Aquino, Masato Ogishi, Remi Pescarmona, Estelle Talouarn, Darawan Rinchai, Peng Zhang, Magali Perret, Zhiyong Liu, Iolanda Jordan, Sefika Elmas Bozdemir, Gulsum Iclal Bayhan, Camille Beaufils, Lucy Bizien, Aurelie Bisiaux, Weite Lei, Milena Hasan, Jie Chen, Christina Gaughan, Abhishek Asthana, Valentina Libri, Joseph M. Luna, Fabrice Jaffre, H. -Heinrich Hoffmann, Eleftherios Michailidis, Marion Moreews, Yoann Seeleuthner, Kaya Bilguvar, Shrikant Mane, Carlos Flores, Yu Zhang, Andres A. Arias, Rasheed Bailey, Agatha Schlueter, Baptiste Milisavljevic, Benedetta Bigio, Tom Le Voyer, Marie Materna, Adrian Gervais, Marcela Moncada-Velez, Francesca Pala, Tomi Lazarov, Romain Levy, Anna-Lena Neehus, Jeremie Rosain, Jessica Peel, Yi-Hao Chan, Marie-Paule Morin, Rosa Maria Pino-Ramirez, Serkan Belkaya, Lazaro Lorenzo, Jordi Anton, Selket Delafontaine, Julie Toubiana, Fanny Bajolle, Victoria Furnado, Marta L. DeDiego, Nadhira Fidouh, Flore Rozenberg, Jordi Perez-Tur, Shuibing Chen, Todd Evans, Frederic Geissmann, Pierre Lebon, Susan R. Weiss, Damien Bonnet, Xavier Duval, Qiang Pan-Hammarstroem, Anna M. Planas, Isabelle Meyts, Filomeen Haerynck, Aurora Pujol, Vanessa Sancho-Shimizu, Clifford L. Dalgard, Jacinta Bustamante, Anne Puel, Stephanie Boisson-Dupuis, Bertrand Boisson, Tom Maniatis, Qian Zhang, Paul Bastard, Luigi Notarangelo, Vivien Beziat, Rebeca Perez de Diego, Carlos Rodriguez-Gallego, Helen C. Su, Richard P. Lifton, Emmanuelle Jouanguy, Aurelie Cobat, Laia Alsina, Sevgi Keles, Elie Haddad, Laurent Abel, Alexandre Belot, Lluis Quintana-Murci, Charles M. Rice, Robert H. Silverman, Shen-Ying Zhang, Jean-Laurent Casanova
Meeting Abstract
Medicine, Research & Experimental
Sabrina Rossi, Sabina Barresi, Isabella Giovannoni, Silvia Vallese, Alessandra Stracuzzi, Silvia Genovese, Chantal Tancredi, Andrea Diociaiuti, Giuseppe Milano, Andrea Ferrari, Bertolini Patrizia, Giorgia Catino, Licia Martucci, Gianni Bisogno, Giovanna Zambruno, Antonio Novelli, Mario Zama, May El Hachem, Viola Alesi, Rita Alaggio
LABORATORY INVESTIGATION
(2023)
Meeting Abstract
Medicine, Research & Experimental
Sabrina Rossi, Sabina Barresi, Giovanna Stefania Colafati, Isabella Giovannoni, Silvia Genovese, Sofia Asioli, Pietro Luigi Poliani, Antonello Cardoni, Eleonora Piccirilli, Chantal Tancredi, Giorgia Catino, Licia Martucci, Giada Del Baldo, Manila Antonelli, Francesca Gianno, Francesco Toni, Fraia Melchionda, Mino Zucchelli, Francesca Diomedi Camassei, Andrea Carai, Angela Mastronuzzi, Caterina Giannini, Antonio Novelli, Marco Gessi, Evelina Miele, Viola Alesi, Rita Alaggio
LABORATORY INVESTIGATION
(2023)
Article
Pediatrics
Anwar Baban, Marianna Cicenia, Lorena Travaglini, Federica Cali, Gessica Vasco, Paola Francalanci, Antonio Novelli, Rachele Adorisio, Antonio Amodeo, Bruno Dallapiccola, Enrico Bertini, Fabrizio Drago
Summary: This article describes a toddler with severe heart failure who was successfully managed with a heart transplant. The authors emphasize the rarity of early onset Friedreich ataxia (FRDA) in toddlers and the need for further research on the variability of triplet repeat expansion in different tissues. They suggest considering FRDA even in cases of isolated cardiomyopathy and discuss the potential triggering effect of heart transplant on neurological symptoms.
MINERVA PEDIATRICS
(2023)
Article
Genetics & Heredity
Xiangge Meng, Chengping Li, Yu Hei, Xiang Zhou, Guoli Zhou
Summary: The study used IVT-SAPAS sequencing to analyze the dynamic changes of APA sites during adipogenesis in bovine subcutaneous preadipocytes and intramuscular preadipocytes. The results showed that APA plays an important role in adipocyte differentiation, and UTR-APA switching genes have different trends, with intramuscular preadipocytes tending to use shorter 3'UTR for differentiation. TRIB3, WWTR1, and INSIG1 play important roles in intramuscular preadipocyte differentiation.
Article
Genetics & Heredity
S. Alizadeh, S. Khamse, N. Tajeddin, H. R. Khorram Khorshid, A. Delbari, M. Ohadi
Summary: This study identifies a specific genotype at a CG-rich trinucleotide short tandem repeat (STR) locus that is associated with late-onset neurocognitive disorders such as Alzheimer's disease (AD).
Article
Genetics & Heredity
Shougang Liu, Zhe Zhuang, Fanghua Liu, Xiuqing Yuan, Zeqiao Zhang, Xiaoqian Liang, Xinhui Li, Yongfeng Chen
Summary: This study investigated the effect and mechanism of RPL9 and TIFA in scalp psoriasis, and identified RPL9 as a potential therapeutic target for scalp psoriasis.
Article
Genetics & Heredity
Shiting Wang, Jiaqi Chen, Zhichao Jin, Ying Xing, Ruiping Wang
Summary: This study suggests a causal association between hair color and skin cancers, with light hair colors (red, blonde, and light brown) being associated with an increased risk and dark brown hair being associated with a decreased risk.
Article
Genetics & Heredity
Joseph Hawadak, Loick Pradel Kojom Foko, Rodrigue Roman Dongang Nana, Karmveer Yadav, Veena Pande, Aparup Das, Vineeta Singh
Summary: This study investigates the genetic diversity and natural selection of the Pfama-1 gene in Plasmodium falciparum isolates from Cameroon. The study finds a considerable nucleotide and haplotype diversity, as well as specific mutations in Cameroonian isolates. Positive diversifying selection and the identification of selected codon sites suggest the potential implication of these genetic variations in host immune pressure and parasite-binding complex modulation. The findings provide valuable baseline data for malaria vaccine design.
Article
Genetics & Heredity
Emily Biernat, Mansi Verma, Chhabi K. Govind
Summary: RSC is an essential ATP-dependent chromatin remodeling complex in Saccharomyces cerevisiae. It regulates nucleosome-depleted regions (NDRs) by sliding flanking nucleosomes away from NDRs. Depletion of RSC leads to nucleosome encroachment in NDRs and transcription initiation defects. The study compared the effects of catalytic-dead Sth1 and rapid depletion of Sth1 on transcription. Rapid depletion of Sth1 reduces recruitment of TBP and Pol II, while the catalytic-dead mutant exhibits a severe reduction in TBP binding but accumulates Pol II in coding regions. The results suggest a role for RSC in transcription elongation and termination processes.
Article
Genetics & Heredity
Yunxiao Wei, Yuhan Song, Muhammad Aamir Khan, Chengzhen Liang, Zhigang Meng, Yuan Wang, Sandui Guo, Rui Zhang
Summary: This study analyzed the GhTPP protein family in upland cotton for the first time and identified the important role of GhTPPA_2 in regulating sugar metabolism, improving soluble sugar accumulation, and drought stress tolerance.
Article
Genetics & Heredity
Yannan Geng, Rui Shao, Tiantong Xu, Lilong Zhang
Summary: A novel risk model based on SCUBE3, TNNC1, SPON1, SEPT12 and ULBP1 genes was developed for predicting PMOP risk, with higher risk score indicating higher risk of suffering from PMOP. Significant differences in signaling pathway activities were observed between the high-risk score group and the low-risk score group.
Article
Genetics & Heredity
Randy P. Williams, Corina Lesseur, Haoxiang Cheng, Qian Li, Maya Deyssenroth, Christopher D. Molteno, Ernesta M. Meintjes, Sandra W. Jacobson, Joseph L. Jacobson, Helen Wainwright, Ke Hao, Jia Chen, R. Colin Carter
Summary: The study suggests that heavy alcohol exposure during pregnancy may impact the proportion of fetal placental villi macrophages and increase the expression of inflammatory genes. Further research is needed to explore these effects and evaluate the potential functional roles of placental inflammation in FASD.
Article
Genetics & Heredity
Lvjing Luo, Lishuang Sun, Shu Li, Huiting Liu, Zhengyu Chen, Shi Huang, Yinyin Mo, Genliang Li
Summary: This study analyzed the expression of Ptpn1 and miR-124-3p in testicular tissues of mice and investigated their regulatory relationship. The results showed that Ptpn1 expression was up-regulated in adult mouse testis compared to juvenile mouse testis, while miR-124-3p expression showed an opposite pattern. Further analysis suggested that the down-regulation of miR-124-3p may contribute to the high expression of Ptpn1 in adult mouse testis.
Article
Genetics & Heredity
Gairui Li, Dan Zhao, Xiaolin Peng, Yashuang Zhao
Summary: MiRNA-22 shows potential as a candidate for early diagnosis of colorectal cancer (CRC). The study found higher miR-22 expression levels in the CRC and CRA groups, suggesting its potential as a biomarker for CRC early screening.
Article
Genetics & Heredity
Zhongqiu Zhu, Qianting Yang, Xiaoying Tian, Da Man, Jian Wang, Junfang Zhang, Bingshe Han
Summary: This study constructed a ceRNA network mediated by lncRNAs in cold-acclimated zebrafish ZF4 cells and revealed that upregulation of MSTRG3207 promotes apoptosis by sponging dre-miR-736 during cold acclimation.
Article
Genetics & Heredity
Weitao Chen, Denggao Xiang, Shang Gao, Shuli Zhu, Zhi Wu, Yuefei Li, Jie Li
Summary: Dam construction has negatively impacted the genetic diversity and structure of fish populations. This case study on the endangered Hemibagrus guttatus found low genetic diversity, high levels of inbreeding, and decreasing population size in fragmented populations. Genetic structure and differentiation were also observed, indicating the influence of dams on these fish populations.
Article
Genetics & Heredity
Pooja Singh, Debleena Guin, Bijay Pattnaik, Ritushree Kukreti
Summary: Through systematic literature review and meta-analysis, it was found that idiopathic pulmonary fibrosis is significantly associated with 222 polymorphisms in 118 genes. Four polymorphisms - rs35705950/MUC5B, rs2736100/TERT, rs2076295/DSP, and rs111521887/TOLLIP, exhibited substantial epidemiological evidence supporting their association with IPF risk.
Article
Genetics & Heredity
Jianping Zhang, Zhijun Cai, Fanzhe Feng, Yufeng Peng, Yi Cui, Yongiqing Xu
Summary: This study found that exosomes secreted by young BMSCs can promote the healing of tendon-bone interface after rotator cuff tears. These exosomes can improve extracellular matrix remodeling, osteogenic differentiation, angiogenesis, and stemness of tendon-derived stem cells (TDSCs). The exosomes from young BMSCs have better effects compared to those from aged BMSCs.