Results 81 to 90 of about 1,440 (186)

Genetic Diagnosis and Discovery Enabled by Large Language Models

Advanced Science, Volume 13, Issue 22, 17 April 2026.
We demonstrate that large language models (LLMs) can facilitate genetic diagnosis and discovery. LLMs were used to solve four types of genetic problems of sequentially increased complexity. An LLM‐based pipeline could analyze genetic variants in the genomic sequences of human hearing loss or rare genetic disease patients and assist in identifying ...
Tao Tu, Khaled Saab, Weida Liu, Zhouqing Fang, Zhuanfen Cheng, Svetolik Spasic, Maja Djurisic, Hiroaki Mohri, Wenlong Ren, Anil Palepu, Juraj Gottweis, Alan Karthikesalingam, Kavita Kulkarni, Annalisa Pawlosky, Devon Bonner, Elijah Kravets, Shruti Marwaha, Hector R. Mendez, Matthew T. Wheeler, Jonathan A. Bernstein, Undiagnosed Diseases Network, Cheng‐Yu Tsai, Chen‐Chi Wu, Konstantina M. Stankovic, Vivek Natarajan, Gary Peltz   +25 more
wiley   +1 more source

Assessment of disease progression in dysferlinopathy: A 1-year cohort study [PDF]

, 2019
ObjectiveTo assess the ability of functional measures to detect disease progression in dysferlinopathy over 6 months and 1 year.MethodsOne hundred ninety-three patients with dysferlinopathy were recruited to the Jain Foundation's International Clinical ...
Praxedes N. S. -A., Cnaan A., Paradas C., Pegoraro E., James M. K., Bello L., Berry K. M., Sakamoto C., Siener C., Mittal P., Hutchence M., Shierbecker J., Vandevelde B., Sanjak M., Ollivier G., Krause S., Canal A., Day J. W., Yajima H., Maron E., Jones K. J., Florence J. M., Rocha C. T., Jacobs M., Bushby K., Harms M., Mendez J. B., Lowes L. P., Carlier P. G., Duong T., Mayhew A. G., Rufibach L. E., Lochmuller H., Bettinson K., Tateishi T., Rose K., Fernandez-Torron R., Lofra R. M., Stojkovic T., Spuler S., Thiele S., Diaz-Manera J., Walter M. C., Hilsden H., Blamire A. M., Gee R., Grieben U., Hogrel J. -Y., Decostre V., Moore U., Sparks S., Semplicini C., Pestronk A., Schreiber-Katz O., Pedrosa-Hernandez I., Feng J., Eagle M., Prugel J., Dewolf B., Montiel-Morillo E., Salort-Campana E., Bharucha-Goebel D. X., Bravver E., Ashida A., Mendell J. R., Straub V., Alfano L., Holsten S., Takeda S., Mori-Yoshimura M.   +69 more
core   +4 more sources

Inhibition of the immunoproteasome modulates innate immunity to ameliorate muscle pathology of dysferlin-deficient BlAJ mice

Cell Death and Disease, 2022
Muscle repair in dysferlinopathies is defective. Although macrophage (Mø)-rich infiltrates are prominent in damaged skeletal muscles of patients with dysferlinopathy, the contribution of the immune system to the disease pathology remains to be fully ...
A. Farini, L. Tripodi, C. Villa, F. Napolitano, F. Strati, D. Molinaro, F. Facciotti, B. Cassani, Y. Torrente   +8 more
doaj   +1 more source

Metabolic dysregulation contributes to the development of dysferlinopathy. [PDF]

Life Sci Alliance
Dysferlin is a transmembrane protein that plays a prominent role in membrane repair of damaged muscle fibers. Accordingly, mutations in the dysferlin gene cause progressive muscular dystrophies, collectively referred to as dysferlinopathies for which no effective treatment exists. Unexpectedly, experimental approaches that successfully restore membrane
Furrer R, Dilbaz S, Steurer SA, Santos G, Karrer-Cardel B, Ritz D, Sinnreich M, Handschin C.   +7 more
europepmc   +3 more sources

Are Muscular Dystrophies Cholesterol‐Handling Diseases? Lessons From HMGCR Variants and Statin‐Associated Myopathies

JCSM Communications, Volume 9, Issue 1, January/June 2026.
ABSTRACT Background Muscular dystrophies (MD) are a genetically diverse group of muscle disorders, many of which arise from mutations in genes encoding components of the sarcolemma dystrophin‐associated glycoprotein complex (DGC). Despite their notorious heterogeneity, MDs consistently lead to chronic myofiber weakening, necrosis and loss of muscle ...
Yejin Kang, Pascal Bernatchez
wiley   +1 more source

Gene co-expression network analysis of dysferlinopathy: Altered cellular processes and functional prediction of TOR1AIP1 a novel muscular dystrophy gene [PDF]

, 2017
Dysferlinopathy, caused by a dysferlin gene mutation, is a clinically heterogeneous autosomal recessive muscle disease characterized by progressive muscle degeneration.
Cali-Daylan, Ayse Ece, Dincer, Pervin
core   +1 more source

EFFECT OF STRUCTURED EXERCISE REGIMEN ON QUALITY OF LIFE, BALANCE AND STRENGTH ON A PATIENT WITH MIYOSHI MYOPATHY – A CASE REPORT

International Journal of Physiotherapy, 2020
Background: Dysferlinopathy is an autosomal recessive disease seen in adolescence or young adulthood. Miyoshi Myopathy is characterized by weakness and wasting of posterior compartment leg muscles rather than the anterior compartment and distal upper ...
Abhishek Taklekar, Akhil Samson, Tushar Palekar   +2 more
doaj   +1 more source

Muscle MRI Contributes to the Differential Diagnosis Between Distal Myopathies and Distal Hereditary Motor Neuropathies

European Journal of Neurology, Volume 33, Issue 1, January 2026.
This study assesses muscle MRI features for the differential diagnosis of patients with distal myopathies and distal hereditary motor neuropathies (dHMNs). A reticular pattern of fat infiltration, together with diffuse and marked involvement of intrinsic foot muscles, emerged as characteristic of dHMNs.
María Payá, Sofía Portela, Rafael Sivera, Marina Frasquet, Fernando Más‐Estellés, Pilar Martí, Inmaculada Azorín, Karolina Aragon‐Gawinska, María Tárrega, Herminia Argente‐Escrig, Juan F. Vázquez‐Costa, Roger Vilchez, Juan J. Vilchez, Teresa Sevilla, Nuria Muelas   +14 more
wiley   +1 more source

Disease duration and disability in dysfeRlinopathy can be described by muscle imaging using heatmaps and random forests [PDF]

, 2019
© 2018 Wiley Periodicals, Inc.Introduction: The manner in which imaging patterns change over the disease course and with increasing disability in dysferlinopathy is not fully understood.
Ángel Sánchez‐Montáñez, Jorge A. Bevilacqua, Garrido, Cristián, Irene Pulido‐Valdeolivas, Suazo, Lionel, Bevilacqua, Jorge A., Cristián Garrido, Susana Quijano‐Roy, Gómez-Andrés, David, Lionel Suazo, Quijano-Roy, Susana, David Gómez‐Andrés, Francina Munell, Pulido-Valdeolivas, Irene, Sánchez-Montáñez, Ángel, Jorge Díaz, Díaz, Jorge, Munell, Francina   +17 more
core   +1 more source

Interplay of Mitochondrial Dynamics, Nutrition, and Vitamins: Evidence From Experimental and Human Studies With Implications for Women’s Health

Oxidative Medicine and Cellular Longevity, Volume 2026, Issue 1, 2026.
Background Nutrition is a key modifiable factor supporting mitochondrial health and is essential for ovarian function and women’s health across the life course. From menarche to menopause, mitochondrial efficiency underpins physiological balance. The menopausal transition is particularly critical, as hormonal and neuroendocrine changes are associated ...
Kunjal Kiran Pai, Shambhavi Shetye, Rakshith Patil, Shravya Acharya, Kishan S. Kulal, Ajeetkumar Patil, Saritha U. Kamath, Anna M. Giudetti   +7 more
wiley   +1 more source