Zobrazeno 1 - 10
of 964
pro vyhledávání: '"genetic modifiers"'
Autor:
Aditi Baruah, Kumari Naina, Arpita Gogoi, Pritanu Deb Baruah, Gautam Hazarika, Lucretia Hazarika
Publikováno v:
Journal of Clinical and Diagnostic Research, Vol 18, Iss 10, Pp 08-12 (2024)
Introduction: The North-eastern Region of India has been a rich reservoir of haemoglobinopathies and thalassaemias. Genetic modifiers, commonly known as ameliorating factors, like co-inheritance of α-thalassaemia, excess α genes, the presence of th
Externí odkaz:
https://doaj.org/article/67f578d5c3d740fa877f055919a11df2
Autor:
Karen L. Oliver, Ingrid E. Scheffer, Colin A. Ellis, Bronwyn E. Grinton, Samuel F. Berkovic, Melanie Bahlo, Zaid Afawi, Dina Amrom, Eva Andermann, Jocelyn F. Bautista, Susannah T. Bellows, Judith Bluvstein, Gregory D. Cascino, Seo-Kyung Chung, Patrick Cossette, Sarah W. Curtis, Norman Delanty, Orrin Devinsky, Dennis Dlugos, Michael P. Epstein, Catharine Freyer, Micheline Gravel, Rebekah V. Harris, Erin L. Heinzen, Olivia J. Henry, Heidi E. Kirsch, Robert C. Knowlton, Eric H. Kossoff, Rebecca Loeb, Daniel H. Lowenstein, Anthony G. Marson, Heather C. Mefford, Paul V. Motika, Terence J. O'Brien, Ruth Ottman, Juliann M. Paolicchi, Slave Petrovski, William O. Pickrell, Mark I. Rees, Lynette G. Sadleir, Jerry J. Shih, Rani K. Singh, Michael C. Smith, Philip E.M. Smith, Rhys H. Thomas, Judith Weisenberg, Peter Widdess-Walsh, Melodie R. Winawer
Publikováno v:
EBioMedicine, Vol 109, Iss , Pp 105404- (2024)
Summary: Background: Phenotypic variability within families with epilepsy is often observed, even when relatives share the same monogenic cause. We aimed to investigate whether common polygenic risk for epilepsy could explain the penetrance and pheno
Externí odkaz:
https://doaj.org/article/0d0f5424442d4240b5c116f34ead7cf1
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
Duchenne muscular dystrophy (DMD) is a severe genetic disorder characterized by progressive muscle degeneration, with respiratory and cardiac complications, caused by mutations in the DMD gene, encoding the protein dystrophin. Various DMD mutations r
Externí odkaz:
https://doaj.org/article/548dbc9a648841349fd6438f9df7a584
Autor:
Yuwei Jiang, Lesley T. MacNeil
Publikováno v:
Molecular Neurodegeneration, Vol 18, Iss 1, Pp 1-23 (2023)
Abstract The lack of effective therapies that slow the progression of Alzheimer’s disease (AD) and related tauopathies highlights the need for a more comprehensive understanding of the fundamental cellular mechanisms underlying these diseases. Mode
Externí odkaz:
https://doaj.org/article/ebdd763474174779bd069e51e9f31256
Autor:
Chunyu Li, Qianqian Wei, Yanbing Hou, Junyu Lin, Ruwei Ou, Lingyu Zhang, Qirui Jiang, Yi Xiao, Kuncheng Liu, Xueping Chen, TianMi Yang, Wei Song, Bi Zhao, Ying Wu, Huifang Shang
Publikováno v:
Molecular Neurodegeneration, Vol 18, Iss 1, Pp 1-12 (2023)
Abstract Background Patients with amyotrophic lateral sclerosis (ALS) demonstrate great heterogeneity in the age at onset (AAO), which is closely related to the course of disease. However, most genetic studies focused on the risk of ALS, while the ge
Externí odkaz:
https://doaj.org/article/b60afcbe5c674106bb89f923ee336d0c
Autor:
Hailey Findlay Black, Chris Kay, Jessica Dawson, Stephanie Bortnick, Kyla Javier, Qingwen Xia, Cheuk Hin Chau, Tess Leavitt, Larissa Arning, Huu Phuc Nguyen, Michael R. Hayden
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101882- (2024)
ABSTRACT: Purpose: In Huntington disease (HD), synonymous variants causing loss or duplication of the interrupting CAA codon in the HTT CAG repeat modify disease onset. These variants are undetectable during HD genetic testing, resulting in inaccurat
Externí odkaz:
https://doaj.org/article/4e9696c78b4448d1923e17da1c298c47
Autor:
Paola De Filippi, Edoardo Errichiello, Antonio Toscano, Tiziana Mongini, Maurizio Moggio, Sabrina Ravaglia, Massimiliano Filosto, Serenella Servidei, Olimpia Musumeci, Fabio Giannini, Alberto Piperno, Gabriele Siciliano, Giulia Ricci, Antonio Di Muzio, Miriam Rigoldi, Paola Tonin, Michele Giovanni Croce, Elena Pegoraro, Luisa Politano, Lorenzo Maggi, Roberta Telese, Alberto Lerario, Cristina Sancricca, Liliana Vercelli, Claudio Semplicini, Barbara Pasanisi, Bruno Bembi, Andrea Dardis, Ilaria Palmieri, Cristina Cereda, Enza Maria Valente, Cesare Danesino
Publikováno v:
Current Issues in Molecular Biology, Vol 45, Iss 4, Pp 2847-2860 (2023)
Pompe disease (PD) is a monogenic autosomal recessive disorder caused by biallelic pathogenic variants of the GAA gene encoding lysosomal alpha-glucosidase; its loss causes glycogen storage in lysosomes, mainly in the muscular tissue. The genotype–
Externí odkaz:
https://doaj.org/article/fb85d4b6cff3436c86279d7bcfd0dd27
Autor:
Andrea Gaudio, Fabio Gotta, Clarissa Ponti, Francesca Sanguineri, Lucia Trevisan, Alessandro Geroldi, Serena Patrone, Chiara Gemelli, Corrado Cabona, Guja Astrea, Chiara Fiorillo, Stefano Gustincich, Marina Grandis, Paola Mandich
Publikováno v:
Frontiers in Neurology, Vol 14 (2023)
Hereditary myopathies represent a clinically and genetically heterogeneous group of neuromuscular disorders, characterized by highly variable clinical presentations and frequently overlapping phenotypes with other neuromuscular disorders, likely infl
Externí odkaz:
https://doaj.org/article/45c8fc767de94fa9812c950d98adf754
Autor:
Djamaa Atamena, Venu Gurram, Petnoï Petsophonsakul, Farnoosh Khosrobakhsh, Macarena S. Arrázola, Marlène Botella, Bernd Wissinger, Marion Szelechowski, Pascale Belenguer
Publikováno v:
Frontiers in Molecular Neuroscience, Vol 16 (2023)
Dominant optic atrophy (DOA) is mainly caused by OPA1 mutations and is characterized by the degeneration of retinal ganglion cells (RGCs), whose axons form the optic nerve. The penetrance of DOA is incomplete and the disease is marked by highly varia
Externí odkaz:
https://doaj.org/article/fee25e707cac4f04b6fc102071611092
Publikováno v:
Muscles, Vol 2, Iss 1, Pp 37-50 (2023)
It is well known that muscular dystrophy disease severity is controlled by genetic modifiers. The expectation is that by identifying these modifiers, we can illuminate additional therapeutic targets with which to combat the disease. To this end we ha
Externí odkaz:
https://doaj.org/article/9978b012994d4f2bb18e95a0e6b3d550