Results 241 to 250 of about 213,484 (340)

Intestinal Atresia in PPP1R12A‐Related Urogenital and Brain Malformation Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT PPP1R12A‐related urogenital and brain malformation syndrome (UBMS) is a newly described disorder characterized by congenital anomalies primarily involving the urogenital system and the brain. We describe a preterm female neonate with multiple congenital anomalies, including type IIIb jejunal atresia, incomplete intestinal rotation, imperforate
Adriana Gomes, Sanjana Karamcheti, Álvaro Martín Rodriguez, Anna‐Kaisa Niemi, Lynne M. Bird   +4 more
wiley   +1 more source

Inhibition of the minor spliceosome restricts the growth of a broad spectrum of cancers. [PDF]

EMBO Rep
Doggett K, Morgan KJ, Olthof AM, Mieruszynski S, Williams BB, Garnham AL, Milevskiy MJG, Whitehead L, Coates J, Buchert M, O'Donoghue RJJ, Hall TE, Putoczki TL, Ernst M, Sutherland KD, Kanadia RN, Heath JK.   +16 more
europepmc   +1 more source

Genomics Review of Selective RET Inhibitors Sensitivity in Thyroid Cancer Clinical Trials

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT RET gene is a driver of thyroid cancer (TC) tumorigenesis. The incidence of TC has increased worldwide in the last few decades, both in medullary and follicular‐derived subtypes. Several drugs, including multikinase and selective inhibitors, have been explored.
Sara Gil‐Bernabé, Lucía García‐DeLaFuente, Alejandro García‐Álvarez, Ginesa García‐Rostán, Jaume Capdevila, Jorge Hernando   +5 more
wiley   +1 more source

An Alternative Self-Splicing Intron Lifecycle Revealed by Dynamic Intron Turnover in Epichloë Endophyte Mitochondrial Genomes. [PDF]

Mol Biol Evol
Chan J, Truglio M, Schardl CL, Cox MP, Young CA, Ganley ARD.   +5 more
europepmc   +1 more source

Sequence comparison of the rDNA introns from six different species ofTetrahymena

, 1985
Henrik Nielsen, Jan Engberg
openalex   +2 more sources

Human monoamine oxidase A and B genes exhibit identical exon-intron organization. [PDF]

, 1991
Joseph Grimsby, Kevin Chen, L J Wang, N C Lan, Jason C.H. Shih   +4 more
openalex   +1 more source

Biallelic Variants in the DARS2 Gene as a Novel Cause of Axonal Charcot–Marie–Tooth Disease

Annals of Neurology, EarlyView.
Objective Charcot–Marie–Tooth (CMT) disease is a heterogeneous group of genetic neuropathies, with >90 genes identified. Several aminoacyl‐tRNA synthetases have been linked to CMT. DARS2, encoding the mitochondrial aspartyl‐tRNA synthetase, has been typically associated with leukoencephalopathy with brainstem and spinal cord involvement and lactate ...
Berta Estévez‐Arias, Siiri Sarv, Nathalie Bonello‐Palot, Laura Carrera‐García, Carlos Ortez, Jesica Expósito‐Escudero, Delia Yubero, Jordi Muchart, Emilien Delmont, Eve Õiglane‐Shlik, Teele Meren, Sanna Puusepp, Ülle Murumets, Gajja S. Salomons, Bjarne Udd, Liis Väli, Lara Cantarero, Carsten G. Bönnemann, Andrés Nascimento, Santiago Ramón‐Maiques, Katrin Õunap, Janet Hoenicka, Daniel Natera‐de Benito, Francesc Palau   +23 more
wiley   +1 more source

The biological and evolutionary consequences of competition between DNA sequences that benefit the cell and DNA sequences that benefit themselves. [PDF]

Nucleic Acids Res
Bendich AJ, Rogers SO.
europepmc   +1 more source

Advancing phylogenomics in Amaranthaceae sensu stricto: Development and application of a new nuclear target enrichment bait set

Applications in Plant Sciences, EarlyView.
Abstract Premise Current phylogenies of Amaranthaceae sensu stricto (s.s.) are inadequately sampled and resolved to reflect the entire evolutionary history of the lineage, which is likely complex due to at least three whole‐genome duplication events, occasionally followed by subsequent additional polyploidization events and rapid diversification of ...
Tina Kiedaisch, Gudrun Kadereit, Anže Žerdoner Čalasan, Diego F. Morales‐Briones   +3 more
wiley   +1 more source

Uncovering the role of mitochondrial genome in pathogenicity and drug resistance in pathogenic fungi. [PDF]

Front Cell Infect Microbiol
Ni Y, Gao X.
europepmc   +1 more source