Results 101 to 110 of about 116,027 (330)

New Treatments in Spinal Muscular Atrophy: Positive Results and New Challenges

Journal of Clinical Medicine, 2020
Spinal muscular atrophy (SMA) is one of the most common autosomal recessive diseases with progressive weakness of skeletal and respiratory muscles, leading to significant disability.
S. Messina, M. Sframeli
semanticscholar   +1 more source

Cis‐ and Trans‐Regulatory Factors Independently Shape Phenotypic Heterogeneity of Retinitis Pigmentosa

Advanced Science, EarlyView.
A zebrafish model carrying an identical human RHO S334X allele reveals two independent genetic layers shaping retinitis pigmentosa (RP) severity: a protective 3‐bp cis‐regulatory insertion that attenuates transgene expression, and a dominant trans‐acting modifier that restores a severe phenotype.
Cong Cui, Kotone Nakagawa, Takumi Tateno, Ayaka Dan, Dexin Meng, Yoshihiro Omori, Soma Tomihara, Suzuri Okamoto, Shigeru Sato, Motokazu Tsujikawa   +9 more
wiley   +1 more source

The impact of neurological impairment and tone on hip joint development

Journal of Children's Orthopaedics
Purpose: The purpose of this study was to define how different force environments by neuromuscular diagnosis (hypertonic versus hypotonic) impact the growth and morphology of the proximal femoral and acetabular regions relative to typically developing ...
Sadettin Ciftci, Luiz Carlos Almeida da Silva, Jason J Howard, Michael Wade Shrader, Freeman Miller   +4 more
doaj   +1 more source

Tracking of [14C]Polystyrene Nanoplastics in Pregnant Mice

Advanced Science, EarlyView.
This study investigates [14C]polystyrene nanoplastic ([14C]PS) translocation in late‐stage pregnant mice after intranasal (0.5 mg of [14C]PS on GD12, GD14, and GD16, n = 6) and intravenous administration (1.5 mg of [14C]PS on GD16, n = 6). 14C‐radiolabel allows quantitative tracking of unmodified polystyrene nanoplastics.
Olga Khaybullina, Pallavi Sarkhel, Outi M. Keinänen   +2 more
wiley   +1 more source

Spinal Muscular Atrophy and Arthrogryposis

Pediatric Neurology Briefs, 1997
Four infants with neurogenic arthrogryposis who died of respiratory failure before 1 month of age had DNA testing of autopsy specimens for SMNT gene deletion in a study at the Children’s Hospital of Philadelphia, PA, and the Children’s Hospital at ...
J Gordon Millichap
doaj   +1 more source

Congenital muscular dystrophy: from muscle to brain. [PDF]

, 2016
Congenital muscular dystrophies (CMDs) are a wide group of muscular disorders that manifest with very early onset of muscular weakness, sometime associated to severe brain involvement.The histologic pattern of muscle anomalies is typical of dystrophic ...
Corsello G, Falsaperla R, Parano E, Pavone P, Praticò AD, Rizzo R, Ruggieri M, Vitaliti G   +7 more
core   +1 more source

AI‐Assisted IoT‐Enabled ECG Monitoring: Integrating Foundational and Generative AI Tools for Sustainable Smart Healthcare—Recent Trends

AI &Innovation, EarlyView.
ABSTRACT The rapid evolution of the Internet of Things (IoT) has significantly advanced the field of electrocardiogram (ECG) monitoring, enabling real‐time, remote, and patient‐centric cardiac care. This paper presents a comprehensive survey of AI assisted IoT‐based ECG monitoring systems, focusing on the integration of emerging technologies such as ...
Amrita Choudhury, Kandarpa Kumar Sarma, Lachit Dutta   +2 more
wiley   +1 more source

Casting Light on Mechanical Properties of Lower and Upper Extremity Muscles in Children with Spinal Muscular Atrophy and Healthy Peers

Archives of Health Science and Research
Objective: This study aimed to compare the mechanical properties of upper and lower extremities between children with spinal muscular atrophy types 1 and 2 and healthy peers.
Seval KUTLUTÜRK-YIKILMAZ, Tülay ÇEVİK-SALDIRAN, Özgül ÖZTÜRK, Sedat ÖKTEM   +3 more
doaj   +1 more source

Hsp70 and Hsp40 inhibit an inter-domain interaction necessary for transcriptional activity in the androgen receptor. [PDF]

, 2019
Molecular chaperones such as Hsp40 and Hsp70 hold the androgen receptor (AR) in an inactive conformation. They are released in the presence of androgens, enabling transactivation and causing the receptor to become aggregation-prone.
Banduseela, Varuna C, Brun-Heath, Isabelle, Chiesa, Giulio, Di Sanza, Claudio, Eftekharzadeh, Bahareh, Felli, Isabella C, García, Jesús, Gestwicki, Jason E, Giorgetti, Elisa, Lieberman, Andrew P, Marin-Argany, Marta, Martínez-Cristóbal, Paula, Nath, Samir R, Nebreda, Ángel R, Pierattelli, Roberta, Rauch, Jennifer N, Salvatella, Xavier, Schwarz, Daniel MC, Shao, Hao, Yu, Zhigang   +19 more
core   +2 more sources

m.10010T>C Mitochondrial Disease: A Case Report With Hypoparathyroidism and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Mitochondria are essential intracellular organelles that play a critical role in cellular metabolism, including the regulation of intracellular calcium signaling. Advances in genomic sequencing have facilitated the identification of rare pathogenic mitochondrial DNA (mtDNA) genetic variants in patients with unexplained endocrine disorders.
Jacob Mohr, Anja Lisbeth Frederiksen, Morten Duno, Anne Pernille Hermann, Trine Maxel Juul, Simone Rask Nielsen   +5 more
wiley   +1 more source