Results 31 to 40 of about 5,265,871 (311)

Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach, Sandra Donkervoort, Carola Hedberg‐Oldfors, Giovanni Baranello, Dimah Saade, Precilla D'Souza, Ruchee Patel, Eva Michael, A. Reghan Foley, Diana Bharucha‐Goebel, S. Jin Haugland, Meghan McAnally, Omer Abdul Hamid, Katherine Chao, Ellen F. Macnamara, Alan H. Beggs, Anna Sarkozy, Juliane Mueller, Steven A. Moore, Richard S. Finkel, Cynthia J. Tifft, Francesco Muntoni, Anders Oldfors, Carsten G. Bönnemann   +23 more
wiley   +1 more source

Gene variants associated with pediatric-onset erythromelalgia: Mendelian and rare-variant association analyses

PAIN Reports
. Introduction:. Erythromelalgia is a descriptive term for burning pain and erythema in distal extremities, often worsened by heat and improved by cold.
Matthew C. Yonas, Don Daniel Ocay, Casie A. Genetti, Kimberly Lobo, Melissa Fernandes, Nicole Groussis, Meghan Halpin, Robert T. Wilder, Timothy W. Yu, Charles B. Berde, Catherine A. Brownstein   +10 more
doaj   +1 more source

Acalvaria: Case Report and Review of Literature of a Rare Congenital Malformation [PDF]

Journal of Clinical and Diagnostic Research, 2018
Acalvaria, defined as absent skull bones, is an extremely rare congenital anomaly with only a handful of cases reported in literature. Hypocalvaria is its hypoplastic variant where the skull bones are incompletely formed. Due to such a rare incidence, it
Deeksha Anand Singla, Anand Singla
doaj   +1 more source

Engineering Approaches to Modify Immunomodulatory Functions of Mesenchymal Stromal Cells (MSCs): Tissue Regeneration and Clinical Application

Advanced Science, EarlyView.
Mesenchymal stromal cells (MSCs) show promise for treating immune‐related disorders through immunomodulation and tissue regeneration. This review gives a brief overview of current clinical approval of MSC therapies. It also discussed how bioengineering, including genetic modification, biomaterial delivery, extracellular vesicles, and iPSC‐derived MSCs,
Sichen Yang, Kejia Li, Ning Wang, Zhen Li, Zhiyong Zhang, Rocky S. Tuan, Yangzi Jiang   +6 more
wiley   +1 more source

Carrier‐Free Berberine/Nitidine Chloride Self‐Assembled Nanoparticles Induce Ferroptosis to Overcome Bortezomib Resistance in Multiple Myeloma

Advanced Science, EarlyView.
A schematic illustrating the fabrication process and ferroptosis‐mediated therapeutic mechanism of carrier‐free self‐assembled BBR/NC‐SAPs for overcoming bortezomib resistance in multiple myeloma. ABSTRACT Therapeutic relapse driven by bortezomib resistance represents a formidable clinical barrier in the management of multiple myeloma (MM).
Yiwen Lv, Shuang Liu, Hong Wu, Guiluan Li, Ying Rong, Guangchao Li, Yangmin Zhu, Qi Zhong, Ruiming Ou, Huijuan Shen, Zhi Liu, Jing Huang, Zhenwei Wang, Pei Lin, Qing Zhang, Guopan Yu, Zhao Yin   +16 more
wiley   +1 more source

Zebrafish and cellular models of SELENON-Congenital myopathy exhibit novel embryonic and metabolic phenotypes

Skeletal Muscle
Background SELENON-Congenital Myopathy (SELENON-CM) is a rare congenital myopathy caused by mutations of the SELENON gene characterized by axial muscle weakness and progressive respiratory insufficiency.
Pamela Barraza-Flores, Behzad Moghadaszadeh, Won Lee, Biju Isaac, Liang Sun, Emily T. Hickey, Shira Rockowitz, Piotr Sliz, Alan H. Beggs   +8 more
doaj   +1 more source

Interleukin‐1α Mediates Pancreatic Fibroblast Activation, Regulates Immune Cell Recruitment and Fibrosis in Acute and Chronic Pancreatitis

Advanced Science, EarlyView.
During pancreatitis, IL‐1α is released from necrotic acinar cells. In response to IL‐1α, pancreatic fibroblasts release chemokines and cytokines that regulate the recruitment of immune cells to the damaged organ. Furthermore, IL‐1α primes fibroblasts, resulting in increased tissue fibrosis during chronic pancreatitis.
Hala Mazloum, Shenja Buchholz, Hanna Schifter, Sabine Ameling, Leif Steil, Ben Lewin Becker, Elke Hammer, Georg Homuth, Uwe Völker, Barbara M. Bröker, Lukas Zierke, Frank Ulrich Weiss, Juliane Glaubitz, Matthias Sendler   +13 more
wiley   +1 more source

Nucleic Acid–Based Therapeutics in Orphan Neurological Disorders: Recent Developments

Frontiers in Molecular Biosciences, 2021
The possibility of rational design and the resulting faster and more cost-efficient development cycles of nucleic acid–based therapeutics (NBTs), such as antisense oligonucleotides, siRNAs, and gene therapy vectors, have fueled increased activity in ...
Olga Khorkova, Jane Hsiao, Claes Wahlestedt   +2 more
doaj   +1 more source

Understanding Arthrogryposis Multiplex Congenita (AMC) Across the Lifespan: An Integrative Review of the Adult AMC Registry's Contributions With Lived Experience Partnerships

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT This reflective essay explores how collaborative work between researchers and adults living with Arthrogryposis Multiplex Congenita (AMC) has deepened and broadened our understanding of what it means to live with this rare condition. By intentionally integrating the lived experiences of individuals with AMC into research processes, the ...
Bonita J. Sawatzky, Megan K. MacGillivray, Tracey Schalk, William Bennett Mortenson   +3 more
wiley   +1 more source

The Nuclear Receptor Testicular Receptor 4 Orchestrates Cytoskeletal Organization in a G Protein Subunit Alpha 12/Rho‐Associated Protein Kinase–Dependent Manner to Promote Myofibroblast Differentiation and Tissue Fibrosis in Systemic Sclerosis

Arthritis &Rheumatology, EarlyView.
Objective Members of the superfamily of nuclear receptors have been implicated in inflammatory processes and pathologic tissue remodeling and have emerged as attractive targets for pharmaceutical intervention. However, the role of testicular receptor 4 (TR4; or Nr2c2) in fibroblast activation and rheumatologic diseases has not yet been investigated ...
Yun Zhang, Lichong Shen, Junhui Zheng, Gisela Baur, Dilidaer Yasen, Honglin Zhu, Yi‐Nan Li, Xianyi Meng, Thuong Trinh‐Minh, Tim Filla, Debomita Chakraborty, Andrea‐Hermina Györfi, Christina Bergmann, Adam Reich, Alexander Kreuter, Georg Schett, Jörg H. W. Distler   +16 more
wiley   +1 more source