Results 131 to 140 of about 100,877 (263)

Terminal 4q duplication and extended 10q deletion in a preterm infant with linear growth restriction: transcriptomic evidence of disrupted developmental and metabolic pathways. [PDF]

Front Pediatr
Töpfer ET, Zähringer M, Baumgartner MK, Garbe AC, Dunstheimer D, Shoukier M, Karachun O, Walden U, Daumer-Haas C, Frühwald MC, Conrad ML, Fincke VE, Johann PD, Fahlbusch FB.   +13 more
europepmc   +1 more source

Adaptive Genomic Divergence Across Altitudes in Capsella bursa‐pastoris

Biological Diversity, EarlyView.
Genomic divergence was observed between high‐altitude and low‐altitude populations of Capsella bursa‐pastoris in China, consistent with an important role of ecological factors. Candidate adaptive loci associated with enhanced energy metabolism, photoprotection, and growth plasticity under altitudinal stress were identified.
Lu Liu, Jia Li, Xin Liu, Xue‐Jun Ge, Hui‐Run Huang   +4 more
wiley   +1 more source

Roles of insulin-like growth factor 1 receptor in growth regulation in 15q26 deletion and duplication syndrome. [PDF]

Biomed Rep
Yu K, Xu X, Liu B, Zhang K, Lu Y, Dong X, Wang L, Cheng G, Wang J, Lu W, Wu B, Wang H, Luo F, Zhou W, Yang L.   +14 more
europepmc   +1 more source

Fungal Antimicrobial Resistance: Mechanisms, Drivers, and Global Clinical Burden

ChemFoodChem, EarlyView.
ABSTRACT Fungal antimicrobial resistance (AMR) is a growing concern for world health caused by an increase in multidrug‐resistant infections, an increase in environmental reservoirs, and the ineffectiveness of current antifungal treatments. Fungal infections continue to be largely excluded from AMR initiatives while causing over 1.6 million deaths ...
Bikash Baral
wiley   +1 more source

Clinical Functional Assignment of TPMT and NUDT15 Alleles by the Clinical Pharmacogenetics Implementation Consortium Pharmacogene Curation Expert Panel

Clinical Pharmacology &Therapeutics, EarlyView.
The Clinical Pharmacogenetics Implementation Consortium (CPIC) TPMT/NUDT15 Pharmacogene Curation Expert Panel (PCEP) conducted a comprehensive review of clinical, laboratory, and computational evidence to determine the clinical function assignments for TPMT and NUDT15 star alleles.
Bailey M. Tibben, Maud Maillard, Victoria M. Pratt, Ann M. Moyer, Debbie M. Figueroa, Michelle Whirl‐Carrillo, Andrea Gaedigk, Gabriele Stocco, Matthias Schwab, Kelly E. Caudle, Jun J. Yang   +10 more
wiley   +1 more source

Structural Variant and Repeat Expansion Findings Identified by Optical Genome Mapping in Complex Autism Spectrum Disorder With Concomitant Neurodevelopmental Disorders. [PDF]

Hum Mutat
Mutlu MB, Öğütlü ÖBG, Öz Ö, Duymuş F, Seyhan S, Tokaç AGB, Tezcan E, Öğütlü H, Demiryılmaz F, Silahtarlıoğlu N, Bilgil K, Elma S, Erdoğan M, Gümüş H, Kumandaş S, Kılıçaslan F.   +15 more
europepmc   +1 more source

Role of SoxE transcription factors in development and disease

Developmental Dynamics, EarlyView.
Abstract Sox8, Sox9, and Sox10 arose by multiple rounds of genome duplications from a single SoxE gene in ancestral vertebrates. In this review, we will briefly discuss the molecular structure and function of SoxE transcription factors and their evolutionary origin. We will then discuss their expression, function, and developmental disorders.
Merin Lawrence, Gerhard Schlosser
wiley   +1 more source

Genome sequencing-based CNV analysis in an infant with concurrent partial trisomies 9p and 12p due to maternal translocation: A case report. [PDF]

Medicine (Baltimore)
Azher Z, Alsabban M, Ali LA, Naffadi H, Ekram S, Obaid R.   +5 more
europepmc   +1 more source

Differential sensitivity to SHH signaling and neural crest‐mediated Gas1 expression regulate jaw size during development and evolution

Developmental Dynamics, EarlyView.
Abstract Background Developmental control of jaw size is crucial to prevent birth defects and facilitate evolutionary adaptation. We have shown that jaw size is established by neural crest mesenchyme (NCM), which are progenitor cells that migrate into the mandibular primordia and produce the jaws.
Zuzana Vavrušová, Daniel B. Chu, An Nguyen, Yeniko Ta, Jennifer L. Fish, Richard A. Schneider   +5 more
wiley   +1 more source

Molecular cytogenetic mapping of Secale strictum introgressions in a perennial tetraploid rye and its diploid progenitor. [PDF]

PLoS One
Hamad AA, Makai D, Sági L, Tarnawa Á, Sepsi A, Polgári D.   +5 more
europepmc   +1 more source