Results 171 to 180 of about 879,135 (289)

Newly identified human aminoacyl‐tRNA synthetase complex interacting multifunctional protein 2 (AIMP2) loss‐of‐function mutations cause neurodevelopmental defects linked to cell death in a zebrafish model

The FEBS Journal, EarlyView.
Human AIMP2 mutations lead to severe neurodevelopmental defects and brain atrophy. Using patient‐derived fibroblasts from two individuals, we show decreased AIMP2 protein levels and overall protein synthesis. In a zebrafish loss‐of‐function model, the lack of AIMP2 leads to an increase in cell death and results in smaller brains.
Patrick Mullen, Shenela Lakhani, Joshua Appelbaum, DéJenaé See, Pryce Patterson, Collin M. MacLeod, Alexandra George, Reza Maroofian, Margaret E. Ross, Christopher Francklyn, Alicia M. Ebert   +10 more
wiley   +1 more source

Clinical challenges of an Xp21 contiguous gene deletion syndrome in a newborn and 15 months of follow-up - case report. [PDF]

Front Endocrinol (Lausanne)
Frulenko I, Ostrowska I, Patalan M, Bertoli-Avella A, León NY, Pinto A, Bauer P, Leśniak A, Katuszonek D, Glińska M, Modrzejewska M, Śmigiel R, Giżewska M.   +12 more
europepmc   +1 more source

Late Recognition of Suspected Ehlers-Danlos Syndrome After Recurrent Small-Bowel Perforations: A Case Report. [PDF]

J Gen Fam Med
ABSTRACT Background Ehlers‐Danlos syndrome (EDS) may be overlooked when gastrointestinal and musculoskeletal findings are assessed separately. Case Presentation An older woman with two previous small‐bowel perforations had bilateral congenital hip dislocation, recurrent shoulder dislocations, skin hyperextensibility, and muscularis propria thinning in ...
Horiguchi N, Hisanaga E, Sato H, Yoshida K, Kimura A, Ito A, Horita M, Suzuki A, Kawai-Kowase K.   +8 more
europepmc   +2 more sources

Hypercapnia Induces Mitochondrial Adaptations and Alters Glutamine Metabolism to Drive a Distinct Metabolic Phenotype in Monocytes

Immunology &Cell Biology, EarlyView.
Elevated CO2 (hypercapnia) is a feature of serious lung diseases, for example COPD and contributes to poor patient prognosis through modulation of immune cell function. Here we employ state‐of‐the art metabolomic and isotope tracing approaches to reveal CO2‐dependent mitochondrial alterations linked to suppressed ATP, proline and glutamate levels in ...
Ben Reddan, David E. Phelan, Xiaofei Yin, Lorraine Brennan, Martina Wallace, Eoin P. Cummins   +5 more
wiley   +1 more source

Large phenotypic variability with severe respiratory involvement in <i>MEGF10</i>-related myopathies: Description of three cases. [PDF]

J Neuromuscul Dis
Pennisi A, Caramizaru A, Severa G, Sternberg D, Dumitrescu A, Metay C, Biancalana V, Carlier RY, Quijano-Roy S, Malfatti E, Dobrescu A.   +10 more
europepmc   +1 more source

Ageing in Adults With Mild and Moderate Intellectual Disabilities in Brazil: A Biopsychosocial Comparison of Individuals With and Without Down Syndrome

Journal of Intellectual Disability Research, EarlyView.
ABSTRACT Objectives The objective of this study is to investigate functional, cognitive, physical and nutritional outcomes in adults with intellectual disabilities (IDs), comparing individuals with and without Down syndrome from São Paulo, Brazil, and to evaluate the associations of group, degree of disability, age and sex with these outcomes ...
Leila Regina de Castro, Rita de Cassia Ernandes, Erika Christina Gouveia e Silva, Luciana Mascarenhas Fonseca, José Maria Montiel, Angelica Castilho Alonso   +5 more
wiley   +1 more source

Late diagnosis of RAPSN mutation-associated congenital myasthenic syndrome with obstructive sleep apnea in a 5-year-old girl. [PDF]

BMC Pediatr
Kurian GS, Frio TR, Ruchonnet-Métrailler I, Fluss J.   +3 more
europepmc   +1 more source

Expanding the Clinical Spectrum of DHX30‐Related Neurodevelopmental Disorder: A Case Report and a Scoping Review

Journal of Intellectual Disability Research, EarlyView.
ABSTRACT Background Whole exome sequencing (WES) has improved diagnostic rates for neurodevelopmental disorders (NDDs) while introducing challenges in novel variant interpretation. DHX30‐related NDD (DHX30‐NDD) is a recently described condition with an evolving phenotypic spectrum.
Nattaporn Tassanakijpanich, Areerat Hnoonual, Oradawan Plong‐On, Pornprot Limprasert   +3 more
wiley   +1 more source

Between myopathy and mortality: Challenges in the diagnosis of <i>PLOD1</i>-related kyphoscoliotic Ehlers-Danlos syndrome. [PDF]

J Neuromuscul Dis
Vill K, Brunet T, Brugger M, Wagner M, Baumann M, Schatz U, Pechmann A, Hannibal I, Tacke M, Giunta C, Wohlgemuth W, Wildgruber M, Müller-Felber W, Blaschek A, Rohrbach M, Huf V.   +15 more
europepmc   +1 more source

Orofacial Myofunctional Therapy for Feeding and Swallowing in Children From Four to 12 Years: What Does the Evidence Show? A Systematic Review

Journal of Oral Rehabilitation, EarlyView.
This systematic review evaluated the effectiveness of orofacial myofunctional therapy (OMT) for improving feeding and swallowing outcomes in children aged 4–12 years. Searches of four databases identified 17 studies, all reporting positive feeding and/or swallowing outcomes, including improved eating and swallowing skills, orofacial muscle function and
Danielle Carey, Robyn Merkel‐Walsh, Phoebe Burrage, Melissa Hadlow, Ghidaa Hasan A. Alrehaily, Raymond J. Tseng, Sharon Smart   +6 more
wiley   +1 more source