Results 81 to 90 of about 2,741 (208)

Adeno‐associated viral vector gene therapy: Challenges for the paediatric hepatologist

Journal of Pediatric Gastroenterology and Nutrition, Volume 79, Issue 3, Page 485-494, September 2024.
Abstract Hepatoxicity associated with recombinant adeno‐associated virus gene therapy is being increasingly encountered by hepatologists in tertiary and quaternary referral units due to the recent increase of these therapies for neuromuscular and haematological disorders.
Barath Jagadisan, Anil Dhawan
wiley   +1 more source

Loss of phosphatase activity in myotubularin-related protein 2 is associated with Charcot-Marie-Tooth disease type 4B1 [PDF]

, 2017
Mutations in the gene encoding myotubularin-related protein 2 (MTMR2) are responsible for autosomal recessive Charcot-Marie-Tooth disease type 4B1 (CMT4B1), a severe hereditary motor and sensory neuropathy characterized by focally folded myelin sheaths ...
Berger, Philipp, Bonneick, Sonja, Suter, Ueli, Willi, Susan, Wymann, Matthias   +4 more
core  

Current developments of gene therapy in human diseases

MedComm, Volume 5, Issue 9, September 2024.
Gene therapy has seen remarkable advancements in recent decades, demonstrating its immense potential in treating a wide range of genetic and acquired diseases. Several AAV gene therapy products have been introduced to the market, addressing various conditions.
Fanfei Liu, Ruiting Li, Zilin Zhu, Yang Yang, Fang Lu   +4 more
wiley   +1 more source

Differential physiological roles for BIN1 isoforms in skeletal muscle development, function and regeneration

Disease Models & Mechanisms, 2020
Skeletal muscle development and regeneration are tightly regulated processes. How the intracellular organization of muscle fibers is achieved during these steps is unclear. Here, we focus on the cellular and physiological roles of amphiphysin 2 (BIN1), a
Ivana Prokic, Belinda S. Cowling, Candice Kutchukian, Christine Kretz, Hichem Tasfaout, Vincent Gache, Josiane Hergueux, Olivia Wendling, Arnaud Ferry, Anne Toussaint, Christos Gavriilidis, Vasugi Nattarayan, Catherine Koch, Jeanne Lainé, Roy Combe, Laurent Tiret, Vincent Jacquemond, Fanny Pilot-Storck, Jocelyn Laporte   +18 more
doaj   +1 more source

Population‐based prevalence of congenital defects in a routine sentinel site‐based surveillance system in the Western Cape, South Africa

Birth Defects Research, Volume 116, Issue 8, August 2024.
Abstract Background Lack of data on the burden and scope of congenital disorders (CDs) in South Africa undermines resource allocation and limits the ability to detect signals from potentially teratogenic pregnancy exposures. Methods We used routine electronic data in the Western Cape Pregnancy Exposure Registry (PER) to determine the overall and ...
Emma Kalk, Alexa Heekes, Diane Lavies, Lizel Jacobs, Careni Spencer, Alison Boutall, Ayesha Osman, Chantal Stewart, Mary‐Ann Davies, Anika van Niekerk, Karen Fieggen, Andrew Boulle, Ushma Mehta   +12 more
wiley   +1 more source

Myotubular myopathy and the neuromuscular junction: a novel therapeutic approach from mouse models

Disease Models & Mechanisms, 2012
SUMMARY Myotubular myopathy (MTM) is a severe congenital muscle disease characterized by profound weakness, early respiratory failure and premature lethality. MTM is defined by muscle biopsy findings that include centralized nuclei and disorganization of
James J. Dowling, Romain Joubert, Sean E. Low, Ashley N. Durban, Nadia Messaddeq, Xingli Li, Ashley N. Dulin-Smith, Andrew D. Snyder, Morgan L. Marshall, Jordan T. Marshall, Alan H. Beggs, Anna Buj-Bello, Christopher R. Pierson   +12 more
doaj   +1 more source

Genetic screen in Drosophila muscle identifies autophagy-mediated T-tubule remodeling and a Rab2 role in autophagy. [PDF]

, 2017
Transverse (T)-tubules make-up a specialized network of tubulated muscle cell membranes involved in excitation-contraction coupling for power of contraction. Little is known about how T-tubules maintain highly organized structures and contacts throughout
Fujita, Naonobu, Fukuda, Mitsunori, Groulx, Jean-Francois, Huang, Wilson, Jean, Steve, Kiger, Amy A, Koyama-Honda, Ikuko, Kuchitsu, Yoshihiko, Lin, Tzu-Han, Mizushima, Noboru, Nguyen, Jen   +10 more
core   +2 more sources

Core myopathy in two siblings with a biallelic variant in the CACNA1S gene—A case series study

Clinical Case Reports, Volume 12, Issue 8, August 2024.
Key Clinical Message Homozygous variants of Calcium Voltage‐Gated Channel Subunit Alpha1 S (CACNA1S) gene mutation were previously identified as causes of periodic paralysis and congenital early‐onset myopathy, while it could be manifested as a late‐onset congenital core myopathy.
Tara Khoeini, Ariana Kariminejad, Yalda Nilipour, Armin Ariaei, Hossein Najmabadi, Mojtaba Arabshahi, Mehrshid Faraji Zonooz, Bahram Haghi Ashtiani   +7 more
wiley   +1 more source

Centronuclear myopathy: histopathological aspects in ten patients with chilfhood onset Miopatia centronuclear: aspectos histopatológicos em dez pacientes com a forma clínica de início na infância

Arquivos de Neuro-Psiquiatria, 1998
Centronuclear myopathy is a rare congenital myopathy. According to the period of onset of signs and symptoms and the degree of muscular involvement three clinical forms are distinguished: severe neonatal; childhood onset; and adult onset.
EDMAR ZANOTELI, ACARY SOUZA BULLE OLIVEIRA, BEATRIZ HITOMI KIYOMOTO, BENY SCHMIDT, ALBERTO ALAIN GABBAI   +4 more
doaj   +1 more source

The Cyclohedron Test for Finding Periodic Genes in Time Course Expression Studies [PDF]

, 2007
The problem of finding periodically expressed genes from time course microarray experiments is at the center of numerous efforts to identify the molecular components of biological clocks. We present a new approach to this problem based on the cyclohedron
Morton, Jason, Pachter, Lior, Shiu, Anne, Sturmfels, Bernd   +3 more
core   +5 more sources