Results 231 to 240 of about 114,605 (302)

Self‐Reported Health‐Related Quality of Life (HRQoL) in Adults With Urea Cycle Disorders

Journal of Inherited Metabolic Disease, Volume 49, Issue 3, May 2026.
ABSTRACT Multiple studies have assessed Health‐Related Quality of Life (HRQoL) in children with urea cycle disorders (UCDs); investigations in adults with the same disorders are rarer. Understanding the variables that modify self‐reported HRQoL has become increasingly important as novel treatments are developed, with clinically meaningful endpoints ...
Curtis R. Coughlin II, John Barber, Chaya N. Murali, Members of the Urea Cycle Disorders Consortium (UCDC), Nicholas Ah Mew, Matthias R. Baumgartner, Gerald Berry, Susan A Berry, Margo Breilyn, Gregory Enns, Can Ficicioglu, Renata C. Gallagher, Andrea Gropman, Cary O. Harding, Georg Hoffman, Laura Konczal, Christina Lam, Cynthia Le Mons, Shawn E. McCandless, Sandesh CS Nagamani, Roland Posset, Andreas Schulze, Jennifer Seminara, Tamar Stricker, Derek Wong, Greta Wilkening   +25 more
wiley   +1 more source

ParaMask: a new method to identify multicopy genomic regions, corrects major biases in whole-genome sequencing data. [PDF]

Genome Biol
Tjeng B, Arimond M, Bråten Grindeland H, Dalla Libera A, Fulgione A.   +4 more
europepmc   +1 more source

Antenatal Presentation of MRPS22‐Related Mitochondrial Disease Confirmed With Rapid Proteomics

JIMD Reports, Volume 67, Issue 3, May 2026.
ABSTRACT MRPS22‐related mitochondrial disease (MIM#611719) is a rare autosomal recessive disorder caused by defects in the mitochondrial ribosomal protein S22, a component of the small mitoribosomal subunit essential for mitochondrial translation. Of the few reported cases, most present antenatally with a severe phenotype, conveying a poor prognosis ...
Liana N. Semcesen, Megan Ball, Daniella H. Hock, Juliet Kaye, Aimee Woods, Lucas De Jong, MitoMDT Diagnostic Network for Genomics and Omics, David R. Thorburn, Aleksandra Filipovska, Michael T. Ryan, David A. Stroud, Diana Stojanovski, David Coman, Sean Murray, Ryan L. Davis, John Christodoulou, Suzanne C. E. H. Sallevelt, Roula Ghaoui, Cas Simons, Stefan J. Siira, Shanti Balasubramaniam, Alison G. Compton, Daniel G. MacArthur, Nicole J. Lake, Drago Bratkovic, Joy Lee, Maina Kava, Amanda Samarasinghe, Yoni Elbaum, Catherine Atthow, Pauline McGrath, Tegan Stait, Rocio Rius, Liana N. Semcesen, Megan Ball, Daniella Hock, Luke E. Formosa, Ellenore M. Martin, Madeleine Harris, John Christodoulou, David R. Thorburn, Alison G. Compton, David A. Stroud, Jan Liebelt   +43 more
wiley   +1 more source

Nonclassical MHC‐I Molecules: Emerging Therapeutic Targets in Next‐Generation Immunotherapy

MedComm, Volume 7, Issue 5, May 2026.
Immunotherapies dependent on classical MHC‐I molecules face significant challenges, including extreme polymorphism and frequent downregulation in pathological conditions. This review discusses how nonclassical MHC‐I molecules (HLA‐E, HLA‐F, HLA‐G, CD1, MR1) may potentially circumvent these limitations through restricted genetic diversity, stable ...
Wanlin He, Andrew J. McMichael
wiley   +1 more source

Gene dosage and protein valency impact phase separation and fungal cell fate. [PDF]

PLoS Genet
Ganser C, He P, Frazer C, Krysan DJ, Bennett RJ.   +4 more
europepmc   +1 more source

Diagnostic Yield of Sequencing for Prenatal Diagnosis of Fetal Structural Anomalies: An Updated Systematic Review

Prenatal Diagnosis, Volume 46, Issue 5-6, Page 756-770, May 2026.
ABSTRACT The clinical utility of sequencing in prenatal diagnosis is known, but diagnostic yield varies widely depending on clinical indication. Here we update an earlier systematic review reporting the diagnostic yield of prenatal sequencing in structurally abnormal fetuses, with particular focus on factors affecting diagnostic yield.
Karen Mei Xian Lim, Alexander Gibbs, Elizabeth Scotchman, Graeme Smith, Lyn S. Chitty, Natalie J. Chandler   +5 more
wiley   +1 more source

Identification of a Novel Rice Chromosomal Translocation Line that Could Cause the Heterozygote Semi-Sterility and be Overcome by Genomic Duplication. [PDF]

Rice (N Y)
Deng R, You H, Ge Q, Wu J, Cheng Z, Zhu L, Yu H, Chen L, Shahid MQ, Lu Z, Liu X.   +10 more
europepmc   +1 more source

Genetic Characterization of the Arabian Horse Population in Tunisia Using Microsatellites. [PDF]

Life (Basel)
Jlassi M, Dhifalli I, Ouled Ahmed H, Lasfar F, El Gtari M, Jemmali B.   +5 more
europepmc   +1 more source

Gene polymorphisms and occurrence of type 2 diabetes in a Gabonese population. [PDF]

Int J Biochem Mol Biol
Mbang Bengone AS, Nikiema-Ndong R, Batou AS, Nnegue Edzo E, Da Dari F, Ovono Abessolo F.   +5 more
europepmc   +1 more source

Fishing for novel HDAC inhibitor compounds to treat Duchenne muscular dystrophy. [PDF]

Mol Ther Nucleic Acids
English KG, Alexander MS.
europepmc   +1 more source