Results 71 to 80 of about 61,700 (266)

Biomarkers of Sarcopenia: Current Status and Future Perspectives

AGING MEDICINE, EarlyView.
In this review, we summarize the various biomarkers discovered in recent years, including biochemical, imaging, and physical testing markers. We analyze their advantages and disadvantages and propose potential ways to improve the diagnostic accuracy of biomarkers, as well as future research directions.
Bijin Luo, Wenhan Li, Yi Zhang, Mengchen Liu, Kemeng Zhang, Sui Huang, Ping He   +6 more
wiley   +1 more source

De Novo Complex Genomic Rearrangement Spanning 2q31.1 in a Proband With Congenital Malformations: Genotype–Phenotype Correlation and Development of a CGR Detection Pipeline

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The 2q31 region is commonly associated with pathogenic alleles of the HOXD cluster leading to various clinical phenotypes related to skeletal development. We present a proband with tetralogy of Fallot and multiple congenital anomalies. Genomic variant screening including an in‐house CGR detection pipeline pairing genome sequencing (GS ...
Katherine Helle, Jesse D. Bengtsson, Mira Gandhi, Christopher M. Grochowski, Ming Yin Lun, Neha Sudhir, Shalini N. Jhangiani, Fritz J. Sedlazeck, Seema R. Lalani, Neil A. Hanchard, Claudia M. B. Carvalho   +10 more
wiley   +1 more source

A fatal case of Nocardia otitidiscaviarum pulmonary infection and brain abscess: taxonomic characterization by molecular techniques

Annals of Clinical Microbiology and Antimicrobials, 2009
We report on a rare case of pulmonary Nocardiosis and brain abscess caused by Nocardia otitidiscaviarum in an elderly woman with chronic obstructive pulmonary disease.
Aranaz Carlos, Melon Ovidio, Manteca Angel, del Mar Garcia-Suarez Maria, Pelaez Ana, Cimadevilla Rafael, Mendez Francisco, Vazquez Fernando   +7 more
doaj   +1 more source

Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy, Jesse Richards, Brooke R. Sweeney, Seema Kumar, Katie E. Queen, Joshua Zaritsky, Carl H. Cramer, Elias I. Traboulsi, Brittni A. Scruggs, Erica E. Davis, Ekaterina Keifer, Emma McGibbon, Timothy Ogden, Bendert De Graaf, Tonia Hymers, Elizabeth Forsythe, Philip Beales   +16 more
wiley   +1 more source

One‐step generation of heritable mitochondrial DNA multiplex‐engineered rats using DddA‐derived cytosine base editor

Animal Models and Experimental Medicine, EarlyView.
We established that mixed DdCBE microinjection is an efficient, heritable, and precise strategy for generating multiplex mtDNA mutant rats. This advancement significantly expands the utility of DdCBEs for mitochondrial disease modeling, providing a robust platform for exploring the pathogenic mechanisms of complex mtDNA mutations and developing ...
Xu Zhang, Keru Li, Lei Tan, Wei Chen, Shan Gao, Chenyang Liu, Shuo Pan, Jiayue He, Ning Liu, Gefan Wan, Wei Dong, Weining Kong, Bin Shen, Xiaolong Qi, Yuanwu Ma   +14 more
wiley   +1 more source

Genetic polymorphism of β-Lactoglobulin gene in indigenous Nigerian goat breeds [PDF]

Journal of Agricultural Sciences (Belgrade), 2019
Polymorphism at the β-Lactoglobulin (β-LG) gene of three Nigerian goat breeds, namely: the West African Dwarf, Sahel and Red Sokoto goats, was investigated using the Polymerase Chain Reaction-Random Fragment Length Polymorphism (PCR-RFLP) method.
Ezewud Anthony E., Abubakar Rukayyat G., Egena Acheneje S.S., Alabi John O.   +3 more
doaj  

Equine models in translational medicine: A comparative approach to human health

Animal Models and Experimental Medicine, EarlyView.
This diagram summarizes and contrasts rodent and equine models, outlining their strengths, limitations, and applications. Horses offer naturally occurring diseases, genetic and physiological similarities to humans, and suitability for longitudinal and clinical‐scale studies.
Shayan Boozarjomehri Amnieh, Katarzyna Ropka‐Molik   +1 more
wiley   +1 more source

Leveraging target enrichment and genome skimming (Hyb‐Seq) of herbarium collections to unlock timber DNA barcoding

Applications in Plant Sciences, EarlyView.
Abstract Premise DNA barcoding for timber species identification requires comprehensive reference datasets, informative DNA barcodes, and cost‐effective protocols. We developed a workflow leveraging Hyb‐Seq (target capture sequencing and genome skimming) to address these challenges, and we tested it on four genera from the mahogany family (Meliaceae ...
Sidonie Bellot, Dyana Ndiade Bourobou, Camila Quintero‐Berns, Laszlo Csiba, Peter Gasson, Barrett McBride, Bhely Angoboy Ilondea, Gaël U. D. Bouka, Emmanuel Ebanyenle, Cynel Gwenael Moundounga, Martin Ricker, Philomena Yarwoah, Guy Herman Zanguim Tchoutezou, Janvier Lisingo, Victor Deklerck   +14 more
wiley   +1 more source

Origin, evolution and biogeographic dynamics of the European rabbit (Oryctolagus cuniculus) in Southwestern Europe

The Anatomical Record, EarlyView.
Abstract The Pleistocene is a key period for understanding the evolutionary history and palaeobiogeography of the European rabbit (Oryctolagus cuniculus). The species was first documented in southeastern Iberia at the beginning of the Middle Pleistocene and appears to have rapidly spread throughout Southwestern Europe, where it was found in numerous ...
Maxime Pelletier
wiley   +1 more source

Genetic Association Analysis of Dopamine DRD3 Ser9Gly Polymorphism and Schizophrenia in Malay Population [PDF]

Iranian Journal of Public Health, 2011
"nBackground: Molecular components of the dopamine receptor (DRD3) play an important role in the pathophysiology of schizophrenia (SCZ). Previous studies have demonstrated an association between the DRD3 Ser9Gly polymorphism and SCZ but the results ...
SF Tee, PY Tang, HC Loh
doaj   +2 more sources