Results 101 to 110 of about 306,770 (339)

Multi‐Tissue Omics Analysis Uncovers Translational Regulation Underlying Complex Traits in Pigs

open access: yesAdvanced Science, EarlyView.
Integrated multi‐omics across pig breeds and tissues reveals key principles of post‐transcriptional translational regulation and their contribution to trait formation. A gene network framework integrating transcriptomic and translatomic data is developed and applied to elucidate the genetic basis of meat production, offering new insights into mammalian
Chao Wang   +13 more
wiley   +1 more source

Insulin lipohypertrophy: A non-fatal dermatological complication of diabetes mellitus reflecting poor glycemic control

open access: yesSaudi Journal of Medicine and Medical Sciences, 2013
Lipohypertrophy has been a recognized complication of insulin therapy. Despite improvements in insulin purity and the introduction of recombinant human insulin, its prevalence has remained high particularly in those with a poor glycemic control ...
Ishrat H Dar   +2 more
doaj   +1 more source

Genetic modifiers of ambulation in the cooperative international Neuromuscular Research Group Duchenne natural history study [PDF]

open access: yes, 2015
OBJECTIVE: We studied the effects of LTBP4 and SPP1 polymorphisms on age at loss of ambulation (LoA) in a multiethnic Duchenne muscular dystrophy (DMD) cohort.
Andreone, Luz   +13 more
core   +1 more source

Psychiatric Comorbidities and Treatment Modalities in Children With Osteogenesis Imperfecta: A Systematic Review of Mental Health

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT To evaluate the prevalence of psychiatric signs and symptoms and describe psychotherapeutic and psychopharmacological interventions among children with osteogenesis imperfecta (OI). PRISMA guidelines were followed, and the study was registered in PROSPERO (CRD42024588284). Studies (n = 1419) were identified across five databases.
Julia M. Morales   +13 more
wiley   +1 more source

The famine of 1946-1947 from Moldova in official documents and testimonies of survivors

open access: yesTyragetia, 2020
The famine of 1946-1947 was one of the most dramatic and secreted episodes in the history of the Moldavian SSR. All information on the scale of this social calamity has been classified.
Elena Postică
doaj  

Skeletal muscle heat shock protein 70: Diverse functions and therapeutic potential for wasting disorders

open access: yesFrontiers in Physiology, 2013
The stress-inducible 70-kDa heat shock protein (HSP70) is a highly conserved protein with diverse intracellular and extracellular functions. In skeletal muscle, HSP70 is rapidly induced in response to both non-damaging and damaging stress stimuli ...
Sarah M Senf
doaj   +1 more source

Co‐Opting MBNL‐Dependent Alternative Splicing Cassette Exons to Control Gene Therapy in Myotonic Dystrophy

open access: yesAnnals of Neurology, EarlyView.
Objective Myotonic dystrophy type 1 (DM1) is a highly variable, multisystemic genetic disorder caused by a CTG repeat expansion in the 3′ untranslated region of DMPK. Toxicity is exerted by repeat‐containing DMPK transcripts that sequester muscleblind‐like (MBNL) proteins and lead to deleterious yet predictable changes in alternative splicing.
Samuel T. Carrell   +3 more
wiley   +1 more source

"Of Mice and Measures": A Project to Improve How We Advance Duchenne Muscular Dystrophy Therapies to the Clinic [PDF]

open access: yes, 2018
A new line of dystrophic mdx mice on the DBA/2J (D2) background has emerged as a candidate to study the efficacy of therapeutic approaches for Duchenne muscular dystrophy (DMD). These mice harbor genetic polymorphisms that appear to increase the severity
Aartsma-Rus, A.   +29 more
core   +3 more sources

Incidence and Prevalence of Congenital Myopathies ‐ A Population‐Based Study From Western Sweden

open access: yesAnnals of Neurology, EarlyView.
Objective Congenital myopathies are a group of rare genetic muscle disorders. Previous studies have estimated point prevalences which only include surviving individuals. Our aim was to perform an epidemiological study with strict inclusion criteria, using modern diagnostic technology to present both incidences and prevalences, and to describe the ...
Eva Michael   +5 more
wiley   +1 more source

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

open access: yesFEBS Open Bio
Heterogeneous nuclear ribonucleoproteins (hnRNPs) bind to RNA, regulating gene expression and splicing. HnRNP L contributes to muscle development and the pathogenesis of myotonic dystrophy.
Hannah R. Littel   +8 more
doaj   +1 more source

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