Results 191 to 200 of about 855,866 (324)

Identification and Characterization of a Novel Biallelic SLC12A2 Variant Associated With Kilquist Syndrome (OMIM #619080)

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT This study presents the case of a child with multiple congenital anomalies, severe hypotonia, and profound bilateral sensorineural hearing loss. Functional bioenergetic assessments showed no significant mitochondrial respiratory defects, and riboflavin (Rf) status evaluation excluded a deficiency in Rf transporters as a cause of hearing loss ...
Piero Leone, Alessia Nisco, Luciana de Gennaro, Maria Tolomeo, Elisa Lorefice, Giuseppe Petrosillo, Silvia Russo, Donatella De Giovanni, Claudia Rita Catacchio, Francesca Romana Lepri, Mario Ventura, Simonetta Simonetti, Albina Tummolo, Maria Barile   +13 more
wiley   +1 more source

Phylogenetic Analysis of Some Aerococcus-Like Organisms from Clinical Sources: Description of Helcococcus kunzii gen. nov., sp. nov.

, 1993
Mary Collins, Richard R. Facklam, Ubaldina M. Rodrigues, Kathryn L. Ruoff   +3 more
openalex   +1 more source

Phylogenetic Analysis of the Mpox Virus in Sub-Saharan Africa (2022-2024). [PDF]

Biology (Basel)
Ochieng M, Kiboi D, Nasimiyu C, Osoro E, Omoga DCA, Kuja JO.   +5 more
europepmc   +1 more source

A Drosophila model of prion disease and its metabolic changes in the brain

Animal Models and Experimental Medicine, EarlyView.
We developed a Drosophila model for prion disease, and flies were capable of expressing the hamster prion protein (HaPrP) under the control of the GAL4/UAS system. The model exhibited some characteristics of the disease in mammals and displayed alterations in protein, sphingolipid, and carbohydrate metabolism. Preliminary applications have demonstrated
Dongdong Wang, Zhixin Sun, Pei Wen, Mengyang Zhao, Yuheng He, Fengting Gou, Jingjing Wang, Qing Fan, Xueyuan Li, Tianying Ma, Xiaoyu Wang, Wen Li, Sen Chen, Deming Zhao, Lifeng Yang   +14 more
wiley   +1 more source

Phylogenetic analysis of the enigmatic Kalash population in Pakistan. [PDF]

Sci Rep
Shahid I, Javed F, Shehzadi A, Munsif J, Ali Shahid A, Shafique M.   +5 more
europepmc   +1 more source

From WGS to gels: Development and testing of PCR primers targeting toxic Digitalis in support of food safety

Applications in Plant Sciences, EarlyView.
Abstract Premise This study capitalized on a library of single‐nucleotide polymorphisms created via whole genome sequencing (WGS) to develop and test a PCR assay for detecting toxic Digitalis species in food products. Complex foods can be difficult to analyze, but safeguarding consumer well‐being and public health necessitates that products regulated ...
Elizabeth Sage Hunter, Sydnee Fo, Robert Literman, Richard H. Uva, Jennifer L. Wolny, Sara M. Handy   +5 more
wiley   +1 more source

Phylogenetic Analysis and Comparative Genomics of Purine Riboswitch Distribution in Prokaryotes

Evolutionary Bioinformatics, 2012
Payal Singh, Supratim Sengupta
doaj  

Molecular Phylogenetic Analysis of Nitrobacter spp.

, 1994
S. ORSO, Manolo Gouy, Élisabeth Navarro, Philippe Normand   +3 more
openalex   +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

Confirmation of Nosocomial Transmission of Hepatitis C Virus by Phylogenetic Analysis of the NS5-B Region [PDF]

, 1998
Helené Norder, Åsa Bergström, Ingrid Uhnoo, Jöran Aldén, Lars Weiss, Jan Czajkowski, Lars O. Magnius   +6 more
openalex   +1 more source