American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Genetic modifiers of Duchenne muscular dystrophy (DMD) that alter disease severity or response to therapy have been reported using natural history or registry data sets of older corticosteroid‐treated patients. We tested associations of genetic modifiers on motor function outcomes in young (4 to < 7 years) steroid naïve clinical trial ...
Utkarsh J. Dang +16 more
wiley +1 more source
Comparative Assessment of Statistical and Thermodynamic Prediction Methods for Solvate Formation: A Case Study with Curcumin and Its Derivatives. [PDF]
Cryst Growth DesTicona-Chambi J +3 more
europepmc +1 more source
Delayed Recognition of Maternal G6PD Heterozygous Status Across Prenatal and Newborn Care Interfaces
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Glucose‐6‐phosphate dehydrogenase (G6PD) deficiency is the most common red blood cell enzymatic disorder worldwide. Although many heterozygotes are asymptomatic, affected neonates have an increased risk for hyperbilirubinemia and related complications.
Mona M. Makhamreh +5 more
wiley +1 more source
Evolutionary-based remodeling of ABA receptors reveals the structural basis of hormone perception and regulation. [PDF]
Proc Natl Acad Sci U S ARivera-Moreno M +4 more
europepmc +1 more source
L‐Cysteine and N‐Acetylcysteine Supplementation Improves Clinical Outcome in a Patient With COXPD10
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT MTO1 is a nuclear gene that encodes a mitochondrial protein essential for modifying mitochondrial transfer RNAs (tRNAs) and stabilizing codon‐anticodon interactions to ensure accurate and efficient mitochondrial protein synthesis and oxidative phosphorylation.
Nishitha R. Pillai +5 more
wiley +1 more source
Enhancing Stability of Cu/ZnO Catalysts in the CO<sub>2</sub> Hydrogenation to Methanol by the Addition of MoO<sub>3</sub> and ReO<sub>3</sub> Promoters. [PDF]
Nanomaterials (Basel)Soriano Rodríguez J +5 more
europepmc +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT CHARGE syndrome is a rare congenital disorder primarily attributed to heterozygous pathogenic variants of the CHD7 gene. Most pathogenic CHD7 variants are loss‐of‐function (LoF) variants, whereas the interpretation of missense variants remains challenging in the absence of functional evidence for their pathogenicity.
Takashi Okuno +8 more
wiley +1 more source
Facile preparation of cobalt-oxide nanostructures with enriched cobalt(ii) ion surface using <i>Solanum melongena</i> for energy application. [PDF]
RSC AdvLaghari AJ +10 more
europepmc +1 more source
Severe Headbanging Responsive to Levodopa in a Child With FOXP1 Syndrome
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT We report a 9‐year‐old female with FOXP1 syndrome due to a de novo in‐frame deletion in the FOXP1 gene. The child has a severe neurodevelopmental disorder including global developmental delay and autism spectrum disorder. At age 2, she developed severe headbanging, which was progressive and did not respond to multidisciplinary, behavioral ...
Pamela Veale +2 more
wiley +1 more source