Results 51 to 60 of about 3,708 (153)

Establishment of induced pluripotent stem cell lines from an ARVC patient carrying a heterozygous variant in LAMA2 gene

Stem Cell Research, 2023
Using peripheral blood mononuclear cell (PBMC) reprogramming technology, a human-induced pluripotent stem cell (iPSC) line was produced from a patient who presents classic clinical features of arrhythmogenic right ventricular cardiomyopathy (ARVA) and carries a de novo laminin subunit alpha 2 (LAMA2) heterozygous mutation (NM_000426.3: c.8842G > A, p ...
Yue Wang, Yibing Fang, Yabo Wang, Shutao Xia, Donghui Zhang, Qi An, Yifei Li, Shuhua Luo   +7 more
openaire   +3 more sources

Derivation of Mouse Dome‐Shaped Trophoblast Stem Cells With Low Heterogeneity From Blastocysts

Cell Proliferation, EarlyView.
Here, Liu et al. report the generation of mouse dome‐shaped trophoblast stem cells (dTSCs) with low heterogeneity and autonomous differentiation potential. dTSCs robustly generate all trophoblast lineages in vitro and contribute to the placenta in vivo, providing a refined model for studying trophoblast development and related disorders.
Minli Liu, Shaofang Ren, Xinyu Xia, Guanlin Lu, Haojie Yang, Yi Zheng, Jiexiang Zhao, Xiao‐Yang Zhao, Mei Wang   +8 more
wiley   +1 more source

Laminin-α2 chain deficiency in skeletal muscle causes dysregulation of multiple cellular mechanisms

Life Science Alliance
This work reveals the defects caused by the absence of laminin-α2, including impaired myoblast proliferation and differentiation, DNA damage, oxidative stress, and mitochondrial dysfunction, highlighting its important role in muscle development and ...
Susana G Martins, Vanessa Ribeiro, Catarina Melo, Cláudia Paulino-Cavaco, Dario Antonini, Sharadha Dayalan Naidu, Fernanda Murtinheira, Inês Fonseca, Bérénice Saget, Mafalda Pita, Diogo R Fernandes, Pedro Gameiro dos Santos, Gabriela Rodrigues, Rita Zilhão, Federico Herrera, Albena T Dinkova-Kostova, Ana Rita Carlos, Sólveig Thorsteinsdóttir   +17 more
doaj   +1 more source

Children's and young people's perspectives on extended reality in paediatric rehabilitation: A qualitative study

Developmental Medicine &Child Neurology, EarlyView.
Aim To explore children's and young people's experiences with extended reality (XR) in rehabilitation, their perceptions of its benefits and challenges, and their visions for its future integration. Method A qualitative, interpretive, descriptive study was conducted using semi‐structured interviews and focus groups with children and young people who ...
Jéromine Hervo, Audrey Ferron, Marietta Kersale, Aurelie Merrer, Enora Croguennec, Sylvain Brochard, Danielle E. Levac, Rodolphe Bailly, Christelle Pons   +8 more
wiley   +1 more source

Genetic testing in paediatric neurological disorders

Developmental Medicine &Child Neurology, EarlyView.
In this study 390 paediatric patients with neurological disorders underwent genetic testing via exome sequencing, commercial panel, in‐house epilepsy, and movement disorder gene panels. Exome sequencing provides the highest diagnostic yield, and severe developmental delay and hypotonia predicted pathogenic variants in the exome sequencing cohort ...
Wafa Bani Uraba, Byoung Chan Lee, Shekeeb S. Mohammad, Katrina Fisk, Michael Buckley, Russell C. Dale, Tony Roscioli, Paediatric Neurogenomic Working Group, Manoj P. Menezes, Sachin Gupta, Christopher Troedson, Esther Tantsis, Richard Webster, Bruce Bennetts, Deepak Gill, Kavitha Kothur   +15 more
wiley   +1 more source

Natural history, outcome measures and trial readiness in LAMA2-related muscular dystrophy and SELENON-related myopathy in children and adults: protocol of the LAST STRONG study

BMC Neurology, 2021
Background SELENON (SEPN1)-related myopathy (SELENON-RM) is a rare congenital myopathy characterized by slowly progressive proximal muscle weakness, early onset spine rigidity and respiratory insufficiency. A muscular dystrophy caused by mutations in the
Karlijn Bouman, Jan T. Groothuis, Jonne Doorduin, Nens van Alfen, Floris E. A. Udink ten Cate, Frederik M. A. van den Heuvel, Robin Nijveldt, Willem C. M. van Tilburg, Stan C. F. M. Buckens, Anne T. M. Dittrich, Jos M. T. Draaisma, Mirian C. H. Janssen, Erik-Jan Kamsteeg, Esmee S. B. van Kleef, Saskia Koene, Jan A. M. Smeitink, Benno Küsters, Florence H. J. van Tienen, Hubert J. M. Smeets, Baziel G. M. van Engelen, Corrie E. Erasmus, Nicol C. Voermans   +21 more
doaj   +1 more source

Multisystem developmental abnormalities and insulin resistance in ADTKD‐HNF1B with the p.E105K variant: A clinical conundrum

Diabetic Medicine, EarlyView.
Abstract Aims HNF1B variants cause autosomal dominant tubulointerstitial kidney disease (ADTKD‐HNF1B), but the phenotypic spectrum of variants of uncertain significance (VUS) remains incompletely defined. We aimed to characterise the multisystem phenotype associated with the HNF1B p.E105K variant and to examine the mechanism underlying insulin ...
YunZe Wang, KangChun Xu, PengFei Liu, Bin Wang, Yan Yang, ShanZhai Wei   +5 more
wiley   +1 more source

The Interaction of LAMA2 and Duration of Illness Affects the Thickness of the Right Transverse Temporal Gyrus in Major Depressive Disorder

Neuropsychiatric Disease and Treatment, 2023
Gang Chen,1– 3 Lei Li,2,4 Taipeng Sun,1– 3 Chenguang Jiang,1,2 Wei Xu,1,2 Suzhen Chen,1,2 Changchun Hu,1 Yingying Yue,1,2 Tianyu Wang,1,2 Wenhao Jiang,1,2 Yonggui Yuan1,2 1Department of Psychosomatics and Psychiatry, ZhongDa Hospital, School of Medicine,
Chen G, Li L, Sun T, Jiang C, Xu W, Chen S, Hu C, Yue Y, Wang T, Jiang W, Yuan Y   +10 more
doaj  

Mitochondrial permeability transition in skeletal muscle phenocopies muscle alterations seen in cancer cachexia and other wasting conditions

The Journal of Physiology, EarlyView.
Abstract figure legend Skeletal muscle wasting conditions are characterized by muscle fibre atrophy, mitochondrial respiratory dysfunction, mitochondrial depletion and fragmentation of acetylcholine receptor (AChR) cluster at the neuromuscular junction.
Maya Semel, Cole Lukasiewicz, Sarah Skinner, Mark R. Viggars, Sung Gi Noh, Martin Picard, Abbey‐Gale Mannings, Michael S. Cohen, Dennis W. Wolan, Terence E. Ryan, Russell T. Hepple   +10 more
wiley   +1 more source

Expanding the Utility of Exome Sequencing in Preventive and Population Genetics

American Journal of Medical Genetics Part A, Volume 200, Issue 11, Page 2433-2442, November 2026.
ABSTRACT Carrier screening is a long‐standing genetic testing process offered to at‐risk couples, with or without a family history, who might have pregnancies affected by an autosomal recessive (AR) or X‐linked (XL) disorder. A total of 276 unrelated individuals, initially referred for rare disorder screening by clinicians, were enrolled in this study ...
Charilaos Kostoulas, Athanasia Sesse, Ioanna Bouba, Robert Najdecki, Spyridon Konitsiotis, Sofia Markoula, Ioannis Georgiou   +6 more
wiley   +1 more source