Results 81 to 90 of about 35,422 (230)

Nkx2-5 and Sarcospan genetically interact in the development of the muscular ventricular septum of the heart [PDF]

, 2017
The muscular ventricular septum separates the flow of oxygenated and de-oxygenated blood in air-breathing vertebrates. Defects within it, termed muscular ventricular septal defects (VSDs), are common, yet less is known about how they arise than rarer ...
Chen, Iuan-bor D, Cochran, Rebecca S, Cormier, DePorres, Danzo, Megan T, Hutchinson, Alayna K, Jay, Patrick Y, Panzer, Adam A, Regmi, Suk D, Salm, Diana, Schulkey, Claire E, Wilson, David B, Winston, Julia B   +11 more
core   +2 more sources

Melatonin and the Dental Pulp: A Scoping Review

International Endodontic Journal, EarlyView.
ABSTRACT Background In general medicine, melatonin is known to enhance wound healing and promote stem cell differentiation. Its potential relevance in endodontics, however, remains underexplored. Objectives This scoping review aimed to systematically assess the available evidence on the effects of melatonin (a) on dental pulp tissue and (b) on human ...
Jasmin Schäfer, Konrad Kleszczynski, Edgar Schäfer   +2 more
wiley   +1 more source

Brain MRI Findings in Congenital Muscular Dystrophy

Pediatric Neurology Briefs, 2006
Brain magnetic resonance imaging (MRI) findings in 13 patients with congenital muscular dystrophy (MDCIC) and Fukutin-related protein (FKRP) gene mutations were retrospectively reviewed in a study at Hammersmith Hospital, London, UK, and European centers.
J Gordon Millichap
doaj   +1 more source

Techniques for subretinal injections in animals

Veterinary Ophthalmology, Volume 28, Issue 2, Page 506-518, March 2025.
Abstract Subretinal injections are not commonly performed during clinical treatment of animals but are frequently used in laboratory animal models to assess therapeutic efficacy and safety of gene and cell therapy products. Veterinary ophthalmologists are often employed to perform the injections in the laboratory animal setting, due to knowledge of ...
Ryan F. Boyd, Simon M. Petersen‐Jones
wiley   +1 more source

Severe CMD with Novel Mutation in Lamin A/C Gene

Pediatric Neurology Briefs, 2010
Researchers at Queen Fabiola Children’s University Hospital, Brussels, Belgium, report a 7-year-old Belgian boy with a 5 months-onset congenital muscular dystrophy and laminopathy caused by a de novo heterozygous LMNA gene mutation.
J Gordon Millichap
doaj   +1 more source

Cellular and molecular mechanisms underlying muscular dystrophy [PDF]

, 2014
The muscular dystrophies are a group of heterogeneous genetic diseases characterized by progressive degeneration and weakness of skeletal muscle. Since the discovery of the first muscular dystrophy gene encoding dystrophin, a large number of genes have ...
Kunkel, Louis M., Rahimov, Fedik
core   +1 more source

A multi‐omics investigation of sarcopenia and frailty: Integrating genomic, epigenomic and telomere length data

Experimental Physiology, EarlyView.
Abstract Sarcopenia and frailty are complex geriatric syndromes influenced by a combination of genetic and environmental factors. Recent studies suggest that specific genetic variants, DNA methylation patterns and shortened telomeres are associated with age‐related diseases and might contribute to the development of both sarcopenia and frailty. In this
Valentina Ginevičienė, Erinija Pranckevičienė, Alina Urnikytė, Laura Jurkūnaitė, Kristijona Gutauskaitė, Rūta Dadelienė, Justina Kilaitė, Ieva Eglė Jamontaitė, Asta Mastavičiūtė, Ildus I. Ahmetov, Vidmantas Alekna   +10 more
wiley   +1 more source

Cardiac Complications of Fukuyama-Type Congenital Muscular Dystrophy

Pediatric Neurology Briefs, 2006
The course of left ventricular function was evaluated using M-mode and Doppler echocardiography in 34 patients with Fukuyama-type congenital muscular dystrophy (FCMD), in a study at the Tokyo Women’s Medical University, Tokyo, Japan.
J Gordon Millichap
doaj   +1 more source

Unveiling Immune System Perturbations in Early Development Through Zebrafish Models of NADHX Repair Deficiency

Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.
ABSTRACT The vital cofactors NADH and NADPH are prone to hydration, forming hydroxylated redox‐inactive derivatives (NADHX and NADPHX) in cells. These damaged metabolites are repaired by two highly conserved enzymes, an NAD(P)HX dehydratase (NAXD) and an NAD(P)HX epimerase (NAXE).
Myrto Patraskaki, Najmesadat Seyedkatouli, Lisa Schlicker, Marc O. Warmoes, Maria Lorena Cordero‐Maldonado, Ursula Heins‐Marroquin, Carole L. Linster   +6 more
wiley   +1 more source

Efficacy of Gene Therapy Is Dependent on Disease Progression in Dystrophic Mice with Mutations in the FKRP Gene

Molecular Therapy: Methods & Clinical Development, 2017
Loss-of-function mutations in the Fukutin-related protein (FKRP) gene cause limb-girdle muscular dystrophy type 2I (LGMD2I) and other forms of congenital muscular dystrophy-dystroglycanopathy that are associated with glycosylation defects in the α ...
Charles Harvey Vannoy, Will Xiao, Peijuan Lu, Xiao Xiao, Qi Long Lu   +4 more
doaj   +1 more source