Results 81 to 90 of about 2,287 (160)

Implementing a Tiered Genetic Testing Strategy for Muscular Dystrophies in Morocco: From Targeted Assays to Exome Sequencing

Molecular Genetics &Genomic Medicine, Volume 14, Issue 3, March 2026.
Targeted routine testing combined with NGS approaches enabled effective genetic diagnosis of muscular dystrophies in Moroccan patients, with nearly half of cases resolved by first‐line testing and additional diagnoses obtained through targeted sequencing and whole‐exome sequencing.
Yasmina Rahmuni, Ilham Ratbi, Jaber Lyahyai, Imane Cherkaoui Jaouad, Ourayna Batta, Aziza Sbiti, Maryem Sahli, Omar Askander, Zineb Rchiad, Abdelaziz Sefiani   +9 more
wiley   +1 more source

Proteinfehlfaltung als Ursache der Muskeldystrophie Dysferlinopathie: Das Mausmodell Dysf-MMex38 [PDF]

, 2018
Ziel der Arbeit war die Charakterisierung des neu generierten MMex38-Mausmodells. Dieses stellt das erste Tiermodell für die Gliedergürtelmuskeldystrophie Dysferlinopathie dar, bei der die Erkrankung durch eine Missense-Mutation und Proteinfehlfaltung ...
Heidt, Leonie Victoria
core   +1 more source

Clinical and Genomic Evaluation of 207 Genetic Myopathies in the Indian Subcontinent

Frontiers in Neurology, 2020
Objective: Inherited myopathies comprise more than 200 different individually rare disease-subtypes, but when combined together they have a high prevalence of 1 in 6,000 individuals across the world.
Samya Chakravorty, Samya Chakravorty, Samya Chakravorty, Samya Chakravorty, Babi Ramesh Reddy Nallamilli, Satish Vasant Khadilkar, Satish Vasant Khadilkar, Satish Vasant Khadilkar, Madhu Bala Singla, Madhu Bala Singla, Madhu Bala Singla, Ashish Bhutada, Rashna Dastur, Pradnya Satish Gaitonde, Laura E Rufibach, Logan Gloster, Logan Gloster, Madhuri Hegde, Madhuri Hegde   +18 more
doaj   +1 more source

Membralin Assembles a MAN1B1–VCP Complex to Target Foreign Glycoproteins from the Endoplasmic Reticulum to Lysosomes for Degradation

Advanced Science, Volume 13, Issue 9, 13 February 2026.
This study identifies Membralin as an ER‐phagy receptor that recruits MAN1B1 and VCP to form a selective ERLAD complex. By sensing dense N‐glycan clusters on viral fusion glycoproteins, this ubiquitin‐independent pathway directs SARS‐CoV‐2 spike, Ebola GP, influenza HA, and HIV‐1 Env to lysosomal degradation, thereby limiting viral infectivity ...
Jing Zhang, Xiaoran Lu, Sunan Li, Tao Wang, Iqbal Ahmad, Yong‐Hui Zheng   +5 more
wiley   +1 more source

Extracellular Particles Derived From Mesenchymal Stromal Cells Reduce Pseudomonas aeruginosa Lung Infection and Inflammation in Mice

Journal of Extracellular Biology, Volume 5, Issue 2, February 2026.
ABSTRACT The World Health Organization and the U.S. Centre for Disease Control and Prevention have reported that antibiotic‐resistant infections with Pseudomonas aeruginosa present a significant health risk worldwide. In the genetic disease Cystic Fibrosis (CF), chronic antibiotic‐resistant Pseudomonas lung infections and persistent inflammation remain
Sharanya Sarkar, Roxanna Barnaby, Zachary Faber, Lily Taub, Carolyn Roche, Lily A. Charpentier, Thomas H. Hampton, Brad Vietje, Douglas J. Taatjes, Byoung‐Kyu Cho, Young Ah Goo, Matthew J. Wargo, Daniel J. Weiss, Tracey L. Bonfield, Thomas J. Kelley, Bruce A. Stanton   +15 more
wiley   +1 more source

Mutational spectrum of autosomal recessive limb-girdle muscular dystrophies in a cohort of 112 Iranian patients and reporting of a possible founder effect

Orphanet Journal of Rare Diseases, 2020
Background Limb-girdle muscular dystrophies are a group of genetically heterogeneous diseases that are inherited in both autosomal dominant (LGMDD) and autosomal recessive forms (LGMDR), the latter is more common especially in populations with high ...
Marzieh Mojbafan, Reza Bahmani, Samira Dabbagh Bagheri, Zohreh Sharifi, Sirous Zeinali   +4 more
doaj   +1 more source

Mutational spectrum and phenotypic variability of Duchenne muscular dystrophy and related disorders in a Bangladeshi population

Scientific Reports, 2023
Duchenne muscular dystrophy (DMD) is a severe rare neuromuscular disorder caused by mutations in the X-linked dystrophin gene. Several mutations have been identified, yet the full mutational spectrum, and their phenotypic consequences, will require ...
Shaoli Sarker, Tamannyat Binte Eshaque, Anjana Soorajkumar, Nasna Nassir, Binte Zehra, Shayla Imam Kanta, Md Atikur Rahaman, Amirul Islam, Shimu Akter, Mohammad Kawsar Ali, Rabeya Akter Mim, K. M. Furkan Uddin, Mohammod Shah Jahan Chowdhury, Nusrat Shams, Md. Abdul Baqui, Elaine T. Lim, Hosneara Akter, Marc Woodbury-Smith, Mohammed Uddin   +18 more
doaj   +1 more source

Spatial analysis of HPV‐associated cervical intraepithelial neoplastic tissues demonstrate distinct immune signatures associated with cervical cancer progression

The Journal of Pathology, Volume 268, Issue 2, Page 200-214, February 2026.
Abstract Cervical cancer remains the fourth most common cancer affecting women worldwide, and incidences of other HPV‐related cancers continue to rise. For the development of effective prevention strategies in high‐risk patients, we aimed to better understand the roles of inflammatory pathways and the tumour microenvironment as the main driver of ...
Gianna Pavilion, Hani Vu, Zherui Xiong, Thi Viet Trinh Dang, Blake O'Brien, Michael Walsh, Andrew Causer, Janin Chandra, Quan Nguyen, Ian H Frazer   +9 more
wiley   +1 more source

Identification of a novel heterozygous DYSF variant in a large family with a dominantly-inherited dysferlinopathy

, 2022
\ua9 2022 British Neuropathological Society. Aims: Dysferlinopathy is an autosomal recessive muscular dystrophy, caused by bi-allelic variants in the gene encoding dysferlin (DYSF).
Trajanoski D, Hayhurst H, Guglieri M, Barresi R, Davis MR, Schaefer AM, Botero Gomez A, Johnsen R, Lamont PJ, Ravenscroft G, Laing NG, Moore U, Straub V, Folland C   +13 more
core  

The impact of Hnrnpl deficiency on transcriptional patterns of developing muscle cells

FEBS Open Bio, Volume 16, Issue 1, Page 178-198, January 2026.
We performed nanopore whole‐transcriptome sequencing comparing RNA from Hnrnpl‐knockdown versus control C2C12 myoblasts to investigate the contributions of Hnrnpl to muscle development. Our results indicate that Hnrnpl regulates the expression of genes involved with Notch signaling and skeletal muscle, particularly splicing patterns of specific muscle ...
Hannah R. Littel, Mekala Gunasekaran, Audrey L. Daugherty, Natalya M. Wells, Johnnie Turner, Christine C. Bruels, Christina A. Pacak, Isabelle Draper, Peter B. Kang   +8 more
wiley   +1 more source