[HTML][HTML] Pan-neuroblastoma analysis reveals age-and signature-associated driver alterations

SW Brady, Y Liu, X Ma, AM Gout, K Hagiwara… - Nature …, 2020 - nature.com
Neuroblastoma is a pediatric malignancy with heterogeneous clinical outcomes. To better
understand neuroblastoma pathogenesis, here we analyze whole-genome, whole-exome …

[HTML][HTML] A novel imaging method (FIM-ID) reveals that myofibrillogenesis plays a major role in the mechanically induced growth of skeletal muscle

KW Jorgenson, JE Hibbert, RKA Sayed, AN Lange… - Elife, 2024 - elifesciences.org
An increase in mechanical loading, such as that which occurs during resistance exercise,
induces radial growth of muscle fibers (ie an increase in cross-sectional area). Muscle fibers …

[HTML][HTML] Differential expression of myogenic and calcium signaling-related genes in broilers affected with white striping

CMM Marciano, AMG Ibelli, JAP Marchesi… - Frontiers in …, 2021 - frontiersin.org
White Striping (WS) has been one of the main issues in poultry production in the last years
since it affects meat quality. Studies have been conducted to understand WS and other …

[HTML][HTML] Combining gene mutation with expression of candidate genes to improve diagnosis of Escobar syndrome

D Najjar, A Chikhaoui, S Zarrouk, S Azouz, W Kamoun… - Genes, 2022 - mdpi.com
Escobar syndrome is a rare, autosomal recessive disorder that affects the musculoskeletal
system and the skin. Mutations in the CHRNG and TPM2 genes are associated with this …

Disoriented collagen fibers and disorganized, fibrotic orbicularis oris muscle fiber with mitochondrial myopathy in non-syndromic cleft lip

RAM Noor, NSM Shah, AAM Zin, WAW Sulaiman… - Archives of Oral …, 2022 - Elsevier
Objective This study aims to explore and compare the histopathology of upper cleft lip tissue
in order to identify the abnormalities and orientation of muscle and collagen fibers in patients …

[PDF][PDF] Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathy

HH Wong, SH Seet, M Maier, A Gurel… - The American Journal of …, 2021 - cell.com
Human C2orf69 is an evolutionarily conserved gene whose function is unknown. Here, we
report eight unrelated families from which 20 children presented with a fatal syndrome …

[PDF][PDF] Aspectos anatomopatológicos e genéticos de casos fatais de calcinose sistêmica em equinos

GC Serena - 2023 - lume.ufrgs.br
A calcinose sistêmica em equinos é uma doença rara, de fisiopatologia não completamente
elucidada, com curso geralmente letal e lesões histopatológicas caracterizadas por …

A novel homozygous variant of RYR1 p.Ala3072Asp in a neonate with dusty core disease: A new entity with clinicopathological implications

BL Gaspar - Neuropathology, 2020 - Wiley Online Library
Dusty core disease (DuCD) is a recently described form of congenital myopathy with
clinicopathological implications. The presence of “dusty core fibers” is the defining …

[PDF][PDF] Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen storage-associated mitochondriopathy

NA Akarsu, S Maurer-Stroh, A Cetinkaya… - STAR - core.ac.uk
Human C2orf69 is an evolutionarily conserved gene whose function is unknown. Here, we
report eight unrelated families from which 20 children presented with a fatal syndrome …

[PDF][PDF] Nurten A. Akarsu, 3 Sebastian Maurer-Stroh, 14 Arda Cetinkaya, 3 Aida Bertoli-Avella, 36

AS Mathuru, L Ho, FA Bard, B Reversade - STAR, 2021 - researchgate.net
Human C2orf69 is an evolutionarily conserved gene whose function is unknown. Here, we
report eight unrelated families from which 20 children presented with a fatal syndrome …